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1
Bal, Milva Orquidea <1967>. "Futuro endocrinologico a lungo termine della pubertà precoce trattata e non trattata." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/148/1/TESI_BAL.pdf.
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2
Bal, Milva Orquidea <1967>. "Futuro endocrinologico a lungo termine della pubertà precoce trattata e non trattata." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/148/.
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3
Gennari, Monia <1972>. "Analisi del gene PRKA1A in una famiglia affetta da Carney Complex." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/149/1/tesiDottoratoGennari.pdf.
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4
Gennari, Monia <1972>. "Analisi del gene PRKA1A in una famiglia affetta da Carney Complex." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/149/.
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5
Strocchi, Simona <1972>. "Valutazione clinica, laboratoristica e strumentale della pubertà in 171 pazienti con sindrome di Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/150/1/Tesi_Strocchi_Simona.pdf.
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6
Strocchi, Simona <1972>. "Valutazione clinica, laboratoristica e strumentale della pubertà in 171 pazienti con sindrome di Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/150/.
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7
Corsini, Ilaria <1971>. "Valutazione funzionalità respiratoria nei soggetti obesi durante la pubertà." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/525/1/corsini.pdf.
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8
Corsini, Ilaria <1971>. "Valutazione funzionalità respiratoria nei soggetti obesi durante la pubertà." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/525/.
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9
Menabò, Soara <1978>. "Studio molecolare in pazienti con iperplasia surrenale congenita." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/584/1/Menab%C3%B2.pdf.
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10
Menabò, Soara <1978>. "Studio molecolare in pazienti con iperplasia surrenale congenita." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/584/.
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11
Nicoletti, Annalisa <1974>. "Analisi genetica nella sindrome di Ullrich-Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/585/1/nicoletti.pdf.
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12
Nicoletti, Annalisa <1974>. "Analisi genetica nella sindrome di Ullrich-Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/585/.
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13
Capretti, Maria Grazia <1964>. "Trasmissione post-natale del citomegalovirus attraverso il latte materno al neonato VLBW." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/969/1/Tesi_Capretti_Maria_Grazia.pdf.
Full textAbstract:
Introduction
Postnatal human cytomegalovirus (CMV) infection is usually asymptomatic in term babies, while
preterm infants are more susceptible to symptomatic CMV infection. Breastfeeding plays a
dominant role in the epidemiology of transmission of postnatal CMV infection, but the risk factors
of symptomatic CMV infection in preterm infants are unknown.
Patients and Methods
Between December 2003 and August 2006, eighty Very Low Birth Weight (VLBW) preterm
infants (gestational age ≤ 32 weeks and birth weight < 1500 g), admitted to the Neonatal Intensive
Care Unit of St Orsola-Malpighi General Hospital, Bologna were recruited. All of them were
breastfed for at least one month.
During the first week of life, serological test for CMV was performed on maternal blood.
Furthermore, urinary CMV culture was performed in all the infants in order to exclude a congenital
CMV infection.
Urine samples from each infant were collected and processed for CMV culture once a week. Once
every 15 days a blood sample was taken from each infant to evaluate the complete blood count, the
hepatic function and the C reactive protein. In addition, samples of fresh breast milk were processed
weekly for CMV culture. A genetic analysis of virus variant was performed in the urine of the
infected infants and in their mother’s milk to confirm the origin of infection.
Results
We evaluated 80 VLBW infants and their 68 mothers. Fifty-three mothers (78%) were positive for
CMV IgG antibodies, and 15 (22%) were seronegative.
In the seronegative group, CMV was never isolated in breast milk, and none of the 18 infants
developed viruria; in the seropositive group, CMV was isolated in 21 out of 53 (40%) mother’s
milk.
CMV was detected in the urine samples of 9 out of 26 (35%) preterm infants, who were born from
21 virolactia positive mothers. Six of these infants had clinically asymptomatic CMV infection,
while 3 showed a sepsis-like illness with bradycardia, tachypnea and repeated desaturations. Eight
out of nine infants showed abnormal hematologic values.
The detection of neutropenia was strictly related to CMV infection (8/9 infected infants vs 17/53
non infected infants, P<.005), such as the detection of an increase in conjugated bilirubin (3/9
infected infants vs 2/53 non infected infants, P<.05). The degree of neutropenia was not different
between the two groups (infected/non infected).
The use of hemoderivatives (plasma and/or IgM–enriched immunoglobulin) in order to treat a
suspected/certain infection in newborn with GE< 28 ws was seen as protective against CMV
infection (1/4 infected infants vs 18/20 non infected infants [GE<28 ws]; P<.05).
Furthermore, bronchopulmonary dysplasia (defined both as oxygen-dependency at 30 days of life
and 36 ws of postmenstrual age) correlated with symptomatic infection (3/3 symptomatic vs 0/6
asymptomatic: P<.05).
Conclusion
Our data suggest that CMV infection transmitted to preterm newborn through human milk is always
asymptomatic when newborns are clinically stable. Otherwise, the infection can worsen a preexisting
disease such as bronchopulmonary dysplasia.
Human milk offers many nutritional and psychological advantages to preterm newborns: according
to our data, there’s no reason to contraindicate it neither to pasteurize the milk of all the mothers of
preterm infants who are CMV seropositive.
14
Capretti, Maria Grazia <1964>. "Trasmissione post-natale del citomegalovirus attraverso il latte materno al neonato VLBW." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/969/.
Full textAbstract:
Introduction
Postnatal human cytomegalovirus (CMV) infection is usually asymptomatic in term babies, while
preterm infants are more susceptible to symptomatic CMV infection. Breastfeeding plays a
dominant role in the epidemiology of transmission of postnatal CMV infection, but the risk factors
of symptomatic CMV infection in preterm infants are unknown.
Patients and Methods
Between December 2003 and August 2006, eighty Very Low Birth Weight (VLBW) preterm
infants (gestational age ≤ 32 weeks and birth weight < 1500 g), admitted to the Neonatal Intensive
Care Unit of St Orsola-Malpighi General Hospital, Bologna were recruited. All of them were
breastfed for at least one month.
During the first week of life, serological test for CMV was performed on maternal blood.
Furthermore, urinary CMV culture was performed in all the infants in order to exclude a congenital
CMV infection.
Urine samples from each infant were collected and processed for CMV culture once a week. Once
every 15 days a blood sample was taken from each infant to evaluate the complete blood count, the
hepatic function and the C reactive protein. In addition, samples of fresh breast milk were processed
weekly for CMV culture. A genetic analysis of virus variant was performed in the urine of the
infected infants and in their mother’s milk to confirm the origin of infection.
Results
We evaluated 80 VLBW infants and their 68 mothers. Fifty-three mothers (78%) were positive for
CMV IgG antibodies, and 15 (22%) were seronegative.
In the seronegative group, CMV was never isolated in breast milk, and none of the 18 infants
developed viruria; in the seropositive group, CMV was isolated in 21 out of 53 (40%) mother’s
milk.
CMV was detected in the urine samples of 9 out of 26 (35%) preterm infants, who were born from
21 virolactia positive mothers. Six of these infants had clinically asymptomatic CMV infection,
while 3 showed a sepsis-like illness with bradycardia, tachypnea and repeated desaturations. Eight
out of nine infants showed abnormal hematologic values.
The detection of neutropenia was strictly related to CMV infection (8/9 infected infants vs 17/53
non infected infants, P<.005), such as the detection of an increase in conjugated bilirubin (3/9
infected infants vs 2/53 non infected infants, P<.05). The degree of neutropenia was not different
between the two groups (infected/non infected).
The use of hemoderivatives (plasma and/or IgM–enriched immunoglobulin) in order to treat a
suspected/certain infection in newborn with GE< 28 ws was seen as protective against CMV
infection (1/4 infected infants vs 18/20 non infected infants [GE<28 ws]; P<.05).
Furthermore, bronchopulmonary dysplasia (defined both as oxygen-dependency at 30 days of life
and 36 ws of postmenstrual age) correlated with symptomatic infection (3/3 symptomatic vs 0/6
asymptomatic: P<.05).
Conclusion
Our data suggest that CMV infection transmitted to preterm newborn through human milk is always
asymptomatic when newborns are clinically stable. Otherwise, the infection can worsen a preexisting
disease such as bronchopulmonary dysplasia.
Human milk offers many nutritional and psychological advantages to preterm newborns: according
to our data, there’s no reason to contraindicate it neither to pasteurize the milk of all the mothers of
preterm infants who are CMV seropositive.
15
Ragni, Luca <1968>. "Le cardiomiopatie nell'infanzia: quadri eziologici ed evolutivi nei primi anni di vita." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/971/1/Tesi_Ragni_Luca.pdf.
Full textAbstract:
Premessa: nell’aprile 2006, l’American Heart Association ha approvato la nuova
definizione e classificazione delle cardiomiopatie (B. J. Maron e coll. 2006),
riconoscendole come un eterogeneo gruppo di malattie associate a disfunzione
meccanica e/o elettrica riconducibili ad un ampia variabilità di cause. La
distinzione tra le varie forme si basa non più sui processi etiopatogenetici che ne
sono alla base, ma sulla modalità di presentazione clinica della malattia. Si
distinguono così le forme primarie, a prevalente od esclusivo interessamento
cardiaco, dalle forme secondarie in cui la cardiomiopatia rientra nell’ambito di un
disordine sistemico dove sono evidenziabili anche disturbi extracardiaci. La nostra
attenzione è, nel presente studio, focalizzata sull’analisi delle cardiomiopatie
diagnosticate nei primi anni di vita in cui si registra una più alta incidenza di
forme secondarie rispetto all’adulto, riservando un particolare riguardo verso
quelle forme associate a disordini metabolici. Nello specifico, il nostro obiettivo è
quello di sottolineare l’influenza di una diagnosi precoce sull’evoluzione della
malattia.
Materiali e metodi: abbiamo eseguito uno studio descrittivo in base ad un’analisi
retrospettiva di tutti i pazienti giunti all’osservazione del Centro di Cardiologia e
Cardiochirurgia Pediatrica e dell’ Età Evolutiva del Policlinico S. Orsola-
Malpighi di Bologna, dal 1990 al 2006, con diagnosi di cardiomiopatia riscontrata
nei primi due anni di vita. Complessivamente sono stati studiati 40 pazienti di cui
20 con cardiomiopatia ipertrofica, 18 con cardiomiopatia dilatativa e 2 con
cardiomiopatia restrittiva con un’età media alla diagnosi di 4,5 mesi (range:0-24
mesi). Per i pazienti descritti a partire dal 2002, 23 in totale, sono state eseguite le
seguenti indagini metaboliche: emogasanalisi, dosaggio della carnitina,
metabolismo degli acidi grassi liberi (pre e post pasto), aminoacidemia
quantitativa (pre e post pasto), acidi organici, mucopolisaccaridi ed oligosaccaridi
urinari, acilcarnitine. Gli stessi pazienti sono stati inoltre sottoposti a prelievo
bioptico di muscolo scheletrico per l’analisi ultrastrutturale, e per l’analisi
dell’attività enzimatica della catena respiratoria mitocondriale. Nella stessa seduta
veniva effettuata la biopsia cutanea per l’eventuale valutazione di deficit
enzimatici nei fibroblasti.
Risultati: l’età media alla diagnosi era di 132 giorni (range: 0-540 giorni) per le
cardiomiopatie ipertrofiche, 90 giorni per le dilatative (range: 0-210 giorni)
mentre le 2 bambine con cardiomiopatia restrittiva avevano 18 e 24 mesi al
momento della diagnosi. Le indagini metaboliche eseguite sui 23 pazienti ci
hanno permesso di individuare 5 bambini con malattia metabolica (di cui 2 deficit
severi della catena respiratoria mitocondriale, 1 con insufficienza della β-
ossidazione per alterazione delle acilcarnitine , 1 con sindrome di Barth e 1 con
malattia di Pompe) e un caso di cardiomiopatia dilatativa associata a rachitismo
carenziale. Di questi, 4 sono deceduti e uno è stato perduto al follow-up mentre la
forma associata a rachitismo ha mostrato un netto miglioramento della
funzionalità cardiaca dopo appropriata terapia con vitamina D e calcio. In tutti la
malattia era stata diagnosticata entro l’anno di vita. Ciò concorda con gli studi
documentati in letteratura che associano le malattie metaboliche ad un esordio
precoce e ad una prognosi infausta.
Da un punto di vista morfologico, un’evoluzione severa si associava alla forma
dilatativa, ed in particolare a quella con aspetto non compaction del ventricolo
sinistro, rispetto alla ipertrofica e, tra le ipertrofiche, alle forme con ostruzione
all’efflusso ventricolare.
Conclusioni: in accordo con quanto riscontrato in letteratura, abbiamo visto come
le cardiomiopatie associate a forme secondarie, ed in particolare a disordini
metabolici, sono di più frequente riscontro nella prima infanzia rispetto alle età
successive e, per questo, l’esordio molto precoce di una cardiomiopatia deve
essere sempre sospettata come l’espressione di una malattia sistemica. Abbiamo
osservato, inoltre, una stretta correlazione tra l’età del bambino alla diagnosi e
l’evoluzione della cardiomiopatia, registrando un peggioramento della prognosi in
funzione della precocità della manifestazione clinica. In particolare la diagnosi
eseguita in epoca prenatale si associava, nella maggior parte dei casi, ad
un’evoluzione severa, comportandosi come una variabile indipendente da altri
fattori prognostici. Riteniamo, quindi, opportuno sottoporre tutti i bambini con
diagnosi di cardiomiopatia effettuata nei primi anni di vita ad uno screening
metabolico completo volto ad individuare quelle forme per le quali sia possibile
intraprendere una terapia specifica o, al contrario, escludere disordini che possano
controindicare, o meno, l’esecuzione di un trapianto cardiaco qualora se ne
presenti la necessità clinica.
16
Ragni, Luca <1968>. "Le cardiomiopatie nell'infanzia: quadri eziologici ed evolutivi nei primi anni di vita." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/971/.
Full textAbstract:
Premessa: nell’aprile 2006, l’American Heart Association ha approvato la nuova
definizione e classificazione delle cardiomiopatie (B. J. Maron e coll. 2006),
riconoscendole come un eterogeneo gruppo di malattie associate a disfunzione
meccanica e/o elettrica riconducibili ad un ampia variabilità di cause. La
distinzione tra le varie forme si basa non più sui processi etiopatogenetici che ne
sono alla base, ma sulla modalità di presentazione clinica della malattia. Si
distinguono così le forme primarie, a prevalente od esclusivo interessamento
cardiaco, dalle forme secondarie in cui la cardiomiopatia rientra nell’ambito di un
disordine sistemico dove sono evidenziabili anche disturbi extracardiaci. La nostra
attenzione è, nel presente studio, focalizzata sull’analisi delle cardiomiopatie
diagnosticate nei primi anni di vita in cui si registra una più alta incidenza di
forme secondarie rispetto all’adulto, riservando un particolare riguardo verso
quelle forme associate a disordini metabolici. Nello specifico, il nostro obiettivo è
quello di sottolineare l’influenza di una diagnosi precoce sull’evoluzione della
malattia.
Materiali e metodi: abbiamo eseguito uno studio descrittivo in base ad un’analisi
retrospettiva di tutti i pazienti giunti all’osservazione del Centro di Cardiologia e
Cardiochirurgia Pediatrica e dell’ Età Evolutiva del Policlinico S. Orsola-
Malpighi di Bologna, dal 1990 al 2006, con diagnosi di cardiomiopatia riscontrata
nei primi due anni di vita. Complessivamente sono stati studiati 40 pazienti di cui
20 con cardiomiopatia ipertrofica, 18 con cardiomiopatia dilatativa e 2 con
cardiomiopatia restrittiva con un’età media alla diagnosi di 4,5 mesi (range:0-24
mesi). Per i pazienti descritti a partire dal 2002, 23 in totale, sono state eseguite le
seguenti indagini metaboliche: emogasanalisi, dosaggio della carnitina,
metabolismo degli acidi grassi liberi (pre e post pasto), aminoacidemia
quantitativa (pre e post pasto), acidi organici, mucopolisaccaridi ed oligosaccaridi
urinari, acilcarnitine. Gli stessi pazienti sono stati inoltre sottoposti a prelievo
bioptico di muscolo scheletrico per l’analisi ultrastrutturale, e per l’analisi
dell’attività enzimatica della catena respiratoria mitocondriale. Nella stessa seduta
veniva effettuata la biopsia cutanea per l’eventuale valutazione di deficit
enzimatici nei fibroblasti.
Risultati: l’età media alla diagnosi era di 132 giorni (range: 0-540 giorni) per le
cardiomiopatie ipertrofiche, 90 giorni per le dilatative (range: 0-210 giorni)
mentre le 2 bambine con cardiomiopatia restrittiva avevano 18 e 24 mesi al
momento della diagnosi. Le indagini metaboliche eseguite sui 23 pazienti ci
hanno permesso di individuare 5 bambini con malattia metabolica (di cui 2 deficit
severi della catena respiratoria mitocondriale, 1 con insufficienza della β-
ossidazione per alterazione delle acilcarnitine , 1 con sindrome di Barth e 1 con
malattia di Pompe) e un caso di cardiomiopatia dilatativa associata a rachitismo
carenziale. Di questi, 4 sono deceduti e uno è stato perduto al follow-up mentre la
forma associata a rachitismo ha mostrato un netto miglioramento della
funzionalità cardiaca dopo appropriata terapia con vitamina D e calcio. In tutti la
malattia era stata diagnosticata entro l’anno di vita. Ciò concorda con gli studi
documentati in letteratura che associano le malattie metaboliche ad un esordio
precoce e ad una prognosi infausta.
Da un punto di vista morfologico, un’evoluzione severa si associava alla forma
dilatativa, ed in particolare a quella con aspetto non compaction del ventricolo
sinistro, rispetto alla ipertrofica e, tra le ipertrofiche, alle forme con ostruzione
all’efflusso ventricolare.
Conclusioni: in accordo con quanto riscontrato in letteratura, abbiamo visto come
le cardiomiopatie associate a forme secondarie, ed in particolare a disordini
metabolici, sono di più frequente riscontro nella prima infanzia rispetto alle età
successive e, per questo, l’esordio molto precoce di una cardiomiopatia deve
essere sempre sospettata come l’espressione di una malattia sistemica. Abbiamo
osservato, inoltre, una stretta correlazione tra l’età del bambino alla diagnosi e
l’evoluzione della cardiomiopatia, registrando un peggioramento della prognosi in
funzione della precocità della manifestazione clinica. In particolare la diagnosi
eseguita in epoca prenatale si associava, nella maggior parte dei casi, ad
un’evoluzione severa, comportandosi come una variabile indipendente da altri
fattori prognostici. Riteniamo, quindi, opportuno sottoporre tutti i bambini con
diagnosi di cardiomiopatia effettuata nei primi anni di vita ad uno screening
metabolico completo volto ad individuare quelle forme per le quali sia possibile
intraprendere una terapia specifica o, al contrario, escludere disordini che possano
controindicare, o meno, l’esecuzione di un trapianto cardiaco qualora se ne
presenti la necessità clinica.
17
Venturi, Valentina <1970>. "Significato prognostico dell'ecografia cerebrale nei neonati con infezione congenita da citomegalovirus." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/972/1/Tesi_Venturi_Valentina.pdf.
Full textAbstract:
Background: Congenital cytomegalovirus (CMV) infection may lead to cerebral injury and neurodevelopmental delay. Cranial computed tomography (CT) is currently the standard imaging technique for predicting the outcome of CMV infected patients. Ultrasound (US) is a safe means to assess the extent of cerebral injury due to CMV infection in neonates, and unlike CT, is readily available at the bedside.
Aim: To report the accuracy of US in predicting neurodevelopmental and sensorineural outcome in patients with congenital CMV infection.
Study design: 57 newborns with congenital CMV infection underwent brain US and were followed prospectively for motor skills, developmental quotient and hearing function.
Results: An abnormal US was found in 12/57 newborns. At least one sequela (Developmental Quotient < 85, motor delay, sensorineural hearing loss) was present in 10/11 surviving children with abnormal US (1 patient died in the neonatal period) vs 3/45 newborns with normal US (OR for death or poor outcome: 154, CI 17.3-1219.6, p<0.001, positive predictive value 91.7%, negative predictive value 93.3%).
Conclusion: A good correlation is shown between ultrasound abnormalities and the prediction of outcome, suggesting that US may be used to study and follow CMV infected neonates. Our findings await confirmation in a larger population.
18
Venturi, Valentina <1970>. "Significato prognostico dell'ecografia cerebrale nei neonati con infezione congenita da citomegalovirus." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/972/.
Full textAbstract:
Background: Congenital cytomegalovirus (CMV) infection may lead to cerebral injury and neurodevelopmental delay. Cranial computed tomography (CT) is currently the standard imaging technique for predicting the outcome of CMV infected patients. Ultrasound (US) is a safe means to assess the extent of cerebral injury due to CMV infection in neonates, and unlike CT, is readily available at the bedside.
Aim: To report the accuracy of US in predicting neurodevelopmental and sensorineural outcome in patients with congenital CMV infection.
Study design: 57 newborns with congenital CMV infection underwent brain US and were followed prospectively for motor skills, developmental quotient and hearing function.
Results: An abnormal US was found in 12/57 newborns. At least one sequela (Developmental Quotient < 85, motor delay, sensorineural hearing loss) was present in 10/11 surviving children with abnormal US (1 patient died in the neonatal period) vs 3/45 newborns with normal US (OR for death or poor outcome: 154, CI 17.3-1219.6, p<0.001, positive predictive value 91.7%, negative predictive value 93.3%).
Conclusion: A good correlation is shown between ultrasound abnormalities and the prediction of outcome, suggesting that US may be used to study and follow CMV infected neonates. Our findings await confirmation in a larger population.
19
Baronio, Federico <1972>. "Il craniofaringioma nel bambino e nell'adolescente. Luci ed ombre durante il follow-up." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2131/1/baronio_federico_tesi.pdf.
Full textAbstract:
Introduction. Craniopharyngioma (CF) is a malformation of the hypothalamicpituitary region and it is the most common nonglial cerebral tumor in children with an high overall survival rate. In some case severe endocrinologic and metabolic sequelae may occur during follow up. 50% of patients (pts), in particular those with radical removal of suprasellar lesions, develop intractable hyperphagia and morbid obesity, with dyslypidemia and high cardiovascular risk. We studied the auxological and metabolic features of a series of 29 patients (18 males) treated at a mean age of 7,6 years, followed up in our Centre from 1973 to 2008 with a mean follow up of 8,3 years. Patients features at the onset. 62% of pts showed as first symptoms of disease visual impairment and neurological disturbancies (headache); 34% growth arrest; 24% signs of raised intracranial pressure and 7% diabetes insipidus.
Diagnosis. Diagnosis of CF was reached finally by TC or MRI scans which showed endo-suprasellar lesion in 23 cases and endosellar tumour in 6 cases.
Treatment and outcome. 25/29 pts underwent surgical removal of CF (19 by transcranial approach and 6 by endoscopic surgery); 4 pts underwent stereotactic surgery as first line therapy. 3 pts underwent local irradiation with yttrium-90, 5 pts post surgery radiotherapy. 45% of pts needed more than one treatment procedure.
Results. After CF treatment all patients suffered from 3 or more pituitary hormone deficiencies and diabetes insipidus. They underwent promptly substitutive therapy with corticosteroids, l-thyroxine and desmopressin. In 28/29 pts we found growth hormone (GH) deficiency. 20/28 pts started GH substitutive therapy and 15 pts reached final height(FH) near target height(TH). 8 pts were not GH treated for good
growth velocity, even without GH, or for tumour residual. They reached in 2 cases FH over TH showing the already known phenomenon of growth without GH. 38% of patients showed BMI SDS >2 SDS at last assessment, in particular pts not GH treated (BMI 2,5 SDS) are more obese than GH treated (BMI 1,2 SDS). Lipid panel of 16 examined pts showed significative differencies among GH treated (9 pts) and not treated (7 pts) with better profile in GH treated ones for Total Cholesterol/C-HDL and C-LDL/C-HDL. We examined intima media thickness of common carotid arteries in 11 pts. 3/4 not GH treated pts showed ultrasonographic abnormalities: calcifications in 2 and plaque in 1 case. Of them 1 pt was only 12,6 years old and already showed hypothalamic obesity with hyperphagia, high HOMA index and dyslipidemia. In the GH treated group (7) we found calcifications in 1 case
and a plaque in another one. GH therapy was started in the young pt with carotid calcifications, with good improvement within 6 months of treatment. 5/29 pts showed hypothalamic obesity, related to hypothalamic damage (type of surgical treatment, endo-suprasellar primitive lesion, recurrences). 48% of patients recurred during follow up ( mean time from treatment: 3 years) and underwent, in some cases up to 4 transcranial surgical treatments. GH seems not to increase
recurrence rate since 40% of GH treated recurred vs 66,6% of not GH treated pts.
Discussion. Our data show the extereme difficulties that occur during follow up of craniopharyngioma treated patients. GH therapy should be offered to all patients even
with good growth velocity after CF treatment, to avoid dislypidemia and reduce cardiovascular risk. The optimal therapy is not completely understood and whether gross tumor removal or partial surgery is the best option remains to be decided only on one patient tumour features and hypothalamic involvement. In conclusion the gold standard treatment of CF remains complete tumour removal, when feasible, or partial resection to preserve hypothalamic function in endosuprasellar large neoplasms.
20
Baronio, Federico <1972>. "Il craniofaringioma nel bambino e nell'adolescente. Luci ed ombre durante il follow-up." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2131/.
Full textAbstract:
Introduction. Craniopharyngioma (CF) is a malformation of the hypothalamicpituitary region and it is the most common nonglial cerebral tumor in children with an high overall survival rate. In some case severe endocrinologic and metabolic sequelae may occur during follow up. 50% of patients (pts), in particular those with radical removal of suprasellar lesions, develop intractable hyperphagia and morbid obesity, with dyslypidemia and high cardiovascular risk. We studied the auxological and metabolic features of a series of 29 patients (18 males) treated at a mean age of 7,6 years, followed up in our Centre from 1973 to 2008 with a mean follow up of 8,3 years. Patients features at the onset. 62% of pts showed as first symptoms of disease visual impairment and neurological disturbancies (headache); 34% growth arrest; 24% signs of raised intracranial pressure and 7% diabetes insipidus.
Diagnosis. Diagnosis of CF was reached finally by TC or MRI scans which showed endo-suprasellar lesion in 23 cases and endosellar tumour in 6 cases.
Treatment and outcome. 25/29 pts underwent surgical removal of CF (19 by transcranial approach and 6 by endoscopic surgery); 4 pts underwent stereotactic surgery as first line therapy. 3 pts underwent local irradiation with yttrium-90, 5 pts post surgery radiotherapy. 45% of pts needed more than one treatment procedure.
Results. After CF treatment all patients suffered from 3 or more pituitary hormone deficiencies and diabetes insipidus. They underwent promptly substitutive therapy with corticosteroids, l-thyroxine and desmopressin. In 28/29 pts we found growth hormone (GH) deficiency. 20/28 pts started GH substitutive therapy and 15 pts reached final height(FH) near target height(TH). 8 pts were not GH treated for good
growth velocity, even without GH, or for tumour residual. They reached in 2 cases FH over TH showing the already known phenomenon of growth without GH. 38% of patients showed BMI SDS >2 SDS at last assessment, in particular pts not GH treated (BMI 2,5 SDS) are more obese than GH treated (BMI 1,2 SDS). Lipid panel of 16 examined pts showed significative differencies among GH treated (9 pts) and not treated (7 pts) with better profile in GH treated ones for Total Cholesterol/C-HDL and C-LDL/C-HDL. We examined intima media thickness of common carotid arteries in 11 pts. 3/4 not GH treated pts showed ultrasonographic abnormalities: calcifications in 2 and plaque in 1 case. Of them 1 pt was only 12,6 years old and already showed hypothalamic obesity with hyperphagia, high HOMA index and dyslipidemia. In the GH treated group (7) we found calcifications in 1 case
and a plaque in another one. GH therapy was started in the young pt with carotid calcifications, with good improvement within 6 months of treatment. 5/29 pts showed hypothalamic obesity, related to hypothalamic damage (type of surgical treatment, endo-suprasellar primitive lesion, recurrences). 48% of patients recurred during follow up ( mean time from treatment: 3 years) and underwent, in some cases up to 4 transcranial surgical treatments. GH seems not to increase
recurrence rate since 40% of GH treated recurred vs 66,6% of not GH treated pts.
Discussion. Our data show the extereme difficulties that occur during follow up of craniopharyngioma treated patients. GH therapy should be offered to all patients even
with good growth velocity after CF treatment, to avoid dislypidemia and reduce cardiovascular risk. The optimal therapy is not completely understood and whether gross tumor removal or partial surgery is the best option remains to be decided only on one patient tumour features and hypothalamic involvement. In conclusion the gold standard treatment of CF remains complete tumour removal, when feasible, or partial resection to preserve hypothalamic function in endosuprasellar large neoplasms.
21
Gualdi, Silvia <1975>. "Apnea e reflusso gastroesofageo nel neonato pretermine." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2132/1/Gualdi_Silvia_Tesi.pdf.
Full textAbstract:
Objective: To document the existence of a relationship between apnea of prematurity (AOP) and gastroesophageal reflux (GER) in preterm infants.
Setting: One Neonatal Intensive Care Unit
Patients: Twenty-six preterm infants (gestational age<32 weeks) with recurrent apneas.
Intervention: Simultaneous and synchronized recording of polysomnography and pH-impedance monitoring (pH-MII). Polysomnography detects and characterizes apneas, by recording of breathing movement, nasal airflow, electrocardiogram, pulse oximeter saturation. pH-MII is the state-of-theart methodology for GER detection in preterm newborns.
Main outcome measures: Relationship between AOP and GER, which were considered temporally related if both started within 30 seconds of each other.
Results: One-hundred-fifty-four apneas out of 1136 were temporally related to GER. The frequency of apnea during the one-minute time around the onset of GER was significantly higher than the one detected in the GER-free period (p=0.03). Furthermore, the frequency of apnea in the
30 seconds after GER (GER-triggered apneas) was greater than that detected in the 30 seconds before (p=0.01). A great inter-individual variability was documented in the proportion of GERtriggered apneas. A strong correlation between total number of apneas and the difference between
apneas detected 30 seconds after and before GER was found (p=0.034).
Conclusions: Our data show that a variable rate of apneas can be triggered by GER in very preterm infant. Further studies are needed to recognise clinical features which identify those patients who are more susceptible to GER-triggered apneas.
22
Gualdi, Silvia <1975>. "Apnea e reflusso gastroesofageo nel neonato pretermine." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2132/.
Full textAbstract:
Objective: To document the existence of a relationship between apnea of prematurity (AOP) and gastroesophageal reflux (GER) in preterm infants.
Setting: One Neonatal Intensive Care Unit
Patients: Twenty-six preterm infants (gestational age<32 weeks) with recurrent apneas.
Intervention: Simultaneous and synchronized recording of polysomnography and pH-impedance monitoring (pH-MII). Polysomnography detects and characterizes apneas, by recording of breathing movement, nasal airflow, electrocardiogram, pulse oximeter saturation. pH-MII is the state-of-theart methodology for GER detection in preterm newborns.
Main outcome measures: Relationship between AOP and GER, which were considered temporally related if both started within 30 seconds of each other.
Results: One-hundred-fifty-four apneas out of 1136 were temporally related to GER. The frequency of apnea during the one-minute time around the onset of GER was significantly higher than the one detected in the GER-free period (p=0.03). Furthermore, the frequency of apnea in the
30 seconds after GER (GER-triggered apneas) was greater than that detected in the 30 seconds before (p=0.01). A great inter-individual variability was documented in the proportion of GERtriggered apneas. A strong correlation between total number of apneas and the difference between
apneas detected 30 seconds after and before GER was found (p=0.034).
Conclusions: Our data show that a variable rate of apneas can be triggered by GER in very preterm infant. Further studies are needed to recognise clinical features which identify those patients who are more susceptible to GER-triggered apneas.
23
Soffritti, Silvia <1974>. "Valutazione del danno ipossico-ischemico cerebrale nel neonato a termine mediante spettroscopia di risonanza magnetica ed elettroencefalogramma ad integrazione di ampiezza dopo trattamento ipotermico: studio caso-controllo." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2134/1/tesi_dottorato_soffritti.pdf.
Full text
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Soffritti, Silvia <1974>. "Valutazione del danno ipossico-ischemico cerebrale nel neonato a termine mediante spettroscopia di risonanza magnetica ed elettroencefalogramma ad integrazione di ampiezza dopo trattamento ipotermico: studio caso-controllo." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2134/.
Full text
25
Paoletti, Vittoria <1973>. "Validazione e applicazioni cliniche della metodica NIRA (Near Infrared Reflectance Analysis) per la valutazione del contenuto nutrizionale del latte materno in terapia intensiva neonatale." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2202/1/Paoletti_Vittoria_Tesi.pdf.
Full textAbstract:
Phase 1: To validate Near-Infrared Reflectance Analysis (NIRA) as a fast, reliable and suitable method for routine evaluation of human milk’s nitrogen and fat content.
Phase 2: To determine whether fat content, protein content and osmolality of HM before and after fortification may affect gastroesophageal reflux (GER) in symptomatic preterm infants.
Patients and Methods: Phase 1: 124 samples of expressed human milk (55 from preterm mothers and 69 from term
mothers) were used to validate NIRA against traditional methods (Gerber method for fat and Kjeldhal method for nitrogen).
Phase 2: GER was evaluated in 17 symptomatic preterm newborns fed naïve and fortified HM by combined pH/intraluminal-impedance monitoring (pH-MII). HM fat and protein content was analysed by a Near-Infrared-Reflectance-Analysis (NIRA). HM osmolality was tested before and
after fortification. GER indexes measured before and after fortification were compared, and were also related with HM fat and protein content and osmolality before and after fortification.
Results: Phase 1:
· A strong agreement was found between traditional methods’ and NIRA’s results (expressed as g/100 g of milk), both for fat and nitrogen content in term (mean fat content: NIRA=2.76; Gerber=2.76; mean nitrogen content: NIRA=1.88; Kjeldhal =1.92) and preterm (mean fat content: NIRA=3.56; Kjeldhal=3.52; mean nitrogen content: NIRA=1.91; Kjeldhal =1.89) mother’s milk.
· Nitrogen content of the milk samples, measured by NIRA, ranged from 1.18 to 2.71 g/100 g of milk in preterm milk and from 1.48 to 2.47 in term milk; fat content ranged from 1.27 to 6.23 g/100 g of milk in preterm milk and from 1.01 to 6.01 g/100 g of milk in term milk.
Phase 2:
· An inverse correlation was found between naïve HM protein content and acid reflux index
(RIpH: p=0.041, rho=-0.501).
· After fortification, osmolality often exceeded the values recommended for infant feeds;
furthermore, a statistically significant (p<.05) increase in non acid reflux indexes was observed.
Conclusions: NIRA can be used as a fast, reliable and suitable tool for routine monitoring of macronutrient content of human milk. Protein content of naïve HM may influence acid GER in preterm infants. A standard fortification of HM may worsen non acid GER indexes and, due to the extreme variability in HM composition, may overcome both recommended protein intake and HM osmolality. Thus, an individualized fortification, based on the analysis of the composition of naïve HM, could optimize both nutrient intake and feeding tolerance.
26
Paoletti, Vittoria <1973>. "Validazione e applicazioni cliniche della metodica NIRA (Near Infrared Reflectance Analysis) per la valutazione del contenuto nutrizionale del latte materno in terapia intensiva neonatale." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/2202/.
Full textAbstract:
Phase 1: To validate Near-Infrared Reflectance Analysis (NIRA) as a fast, reliable and suitable method for routine evaluation of human milk’s nitrogen and fat content.
Phase 2: To determine whether fat content, protein content and osmolality of HM before and after fortification may affect gastroesophageal reflux (GER) in symptomatic preterm infants.
Patients and Methods: Phase 1: 124 samples of expressed human milk (55 from preterm mothers and 69 from term
mothers) were used to validate NIRA against traditional methods (Gerber method for fat and Kjeldhal method for nitrogen).
Phase 2: GER was evaluated in 17 symptomatic preterm newborns fed naïve and fortified HM by combined pH/intraluminal-impedance monitoring (pH-MII). HM fat and protein content was analysed by a Near-Infrared-Reflectance-Analysis (NIRA). HM osmolality was tested before and
after fortification. GER indexes measured before and after fortification were compared, and were also related with HM fat and protein content and osmolality before and after fortification.
Results: Phase 1:
· A strong agreement was found between traditional methods’ and NIRA’s results (expressed as g/100 g of milk), both for fat and nitrogen content in term (mean fat content: NIRA=2.76; Gerber=2.76; mean nitrogen content: NIRA=1.88; Kjeldhal =1.92) and preterm (mean fat content: NIRA=3.56; Kjeldhal=3.52; mean nitrogen content: NIRA=1.91; Kjeldhal =1.89) mother’s milk.
· Nitrogen content of the milk samples, measured by NIRA, ranged from 1.18 to 2.71 g/100 g of milk in preterm milk and from 1.48 to 2.47 in term milk; fat content ranged from 1.27 to 6.23 g/100 g of milk in preterm milk and from 1.01 to 6.01 g/100 g of milk in term milk.
Phase 2:
· An inverse correlation was found between naïve HM protein content and acid reflux index
(RIpH: p=0.041, rho=-0.501).
· After fortification, osmolality often exceeded the values recommended for infant feeds;
furthermore, a statistically significant (p<.05) increase in non acid reflux indexes was observed.
Conclusions: NIRA can be used as a fast, reliable and suitable tool for routine monitoring of macronutrient content of human milk. Protein content of naïve HM may influence acid GER in preterm infants. A standard fortification of HM may worsen non acid GER indexes and, due to the extreme variability in HM composition, may overcome both recommended protein intake and HM osmolality. Thus, an individualized fortification, based on the analysis of the composition of naïve HM, could optimize both nutrient intake and feeding tolerance.
27
Marvulli, Lucia <1975>. "Le risorse del latte umano e il suo trattamento (il contenuto del DHA nel latte materno pre e post pastorizzazione Holder)." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2496/1/Marvulli_Lucia_tesi.pdf.
Full text
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Marvulli, Lucia <1975>. "Le risorse del latte umano e il suo trattamento (il contenuto del DHA nel latte materno pre e post pastorizzazione Holder)." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2496/.
Full text
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Barbieri, Eveline <1973>. "Mechanisms of p53-mediated apoptosis in neuroblastoma." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2527/1/barbieri_eveline_tesi.pdf.
Full text
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Barbieri, Eveline <1973>. "Mechanisms of p53-mediated apoptosis in neuroblastoma." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2527/.
Full text
31
Fabi, Marianna <1974>. "Outcome respiratorio a lungo termine nei soggetti affetti da cardiopatia congenita sottoposti ad intervento cardiochirurgico." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2908/1/fabi_marianna_tesi.pdf.
Full textAbstract:
Introduction: In the last years cardiac surgery for congenital heart disease (CHD) reduced dramatically mortality modifying prognosis, but, at the same time, increased morbidity in this patient population. Respiratory and cardiovascular systems are strictly anatomically and functionally connected, so that alterations of pulmonary hemodynamic conditions modify respiratory function. While very short-term alterations of respiratory mechanics after surgery were investigated by many authors, not as much works focused on long-term changes. In these subjects rest respiratory function may be limited by several factor: CHD itself (fetal pulmonary perfusion influences vascular and alveolar development), extracorporeal circulation (CEC), thoracotomy and/or sternotomy, rib and sternal contusions, pleural adhesions and pleural fibrosis, secondary to surgical injury. Moreover inflammatory cascade, triggered by CEC, can cause endothelial damage and compromise gas exchange. Aims: The project was conceived to 1) determine severity of respiratory functional impairement in different CHD undergone to surgical correction/palliation; 2) identify the most and the least CHD involved by pulmonary impairement; 3) find a correlation between a specific hemodynamic condition and functional anomaly, and 4) between rest respiratory function and cardiopulmonary exercise test. Materials and methods: We studied 113 subjects with CHD undergone to surgery, and distinguished by group in accord to pulmonary blood flow (group 0: 28 pts with normal pulmonary flow; group 1: 22 pts with increased flow; group 2: 43 pts with decreased flow; group 3: 20 pts with total cavo-pulmonary anastomosis-TCPC) followed by the Pediatric Cardiology and Cardiac Surgery Unit, and we compare them to 37 age- and sex-matched healthy subjects. In Pediatric Pulmonology Unit all pts performed respiratory function tests (static and dynamic volumes, flow/volume curve, airway resistances-raw- and conductance-gaw-, lung diffusion of CO-DLCO- and DLCO/alveolar volume), and CHD pts the same day had cardiopulmonary test. They all were examined and had allergological tests, and respiratory medical history. Results: restrictive pattern (measured on total lung capacity-TLC- and vital capacity-VC) was in all CHD groups, and up to 45% in group 2 and 3. Comparing all groups, we found a significant difference in TLC between healthy and group 2 (p=0.001) and 3 (p=0.004), and in VC between group 2 and healthy (p=0.001) and group 1(p=0.034). Inspiratory capacity (IC) was decreased in group 2 related to healthy (p<0.001) and group 1 (p=0.037). We showed a direct correlation between TLC and VC with age at surgery (p=0.01) and inverse with number of surgical interventions (p=0.03). Reduced FEV1/FVC ratio, Gaw and increased Raw were mostly present in group 3. DLCO was impaired in all groups, but up to 80% in group 3 and 50% in group 2; when corrected for alveolar volume (DLCO/VA) reduction persisted in group 3 (20%), 2 (6.2%) and 0 (7.1%). Exercise test was impaired in all groups: VO2max and VE markedly reduced in all but especially in group 3, and VE/VCO2 slope, marker of ventilatory response to exercise, is increased (<36) in 62.5% of group 3, where other pts had anyway value>32. Comparing group 3 and 2, the most involved categories, we found difference in VO2max and VE/VCO2 slope (respectively p=0.02 and p<0.0001). We evidenced correlation between rest and exercise tests, especially in group 0 (between VO2max and FVC, FEV1, VC, IC; inverse relation between VE/VCO2slope and FVC, FEV1 and VC), but also in group 1 (VO2max and IC), group 2 (VO2max and FVC and FEV1); never in group 3. Discussion: According with literature, we found a frequent impairment of rest pulmonary function in all groups, but especially in group 2 and 3. Restrictive pattern was the most frequent alteration probably due to compromised pulmonary (vascular and alveolar) development secondary to hypoperfusion in fetal and pre-surgery (and pre-TCPC)life. Parenchymal fibrosis, pleural adhesions and thoracic deformities can add further limitation, as showed by the correlation between group 3 and number of surgical intervention. Exercise tests were limited, particularly in group 3 (complex anatomy and lost of chronotropic response), and we found correlations between rest and exercise tests in all but group 3. We speculate that in this patients hemodynamic exceeds respiratory contribution, though markedly decreased.
32
Fabi, Marianna <1974>. "Outcome respiratorio a lungo termine nei soggetti affetti da cardiopatia congenita sottoposti ad intervento cardiochirurgico." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2908/.
Full textAbstract:
Introduction: In the last years cardiac surgery for congenital heart disease (CHD) reduced dramatically mortality modifying prognosis, but, at the same time, increased morbidity in this patient population. Respiratory and cardiovascular systems are strictly anatomically and functionally connected, so that alterations of pulmonary hemodynamic conditions modify respiratory function. While very short-term alterations of respiratory mechanics after surgery were investigated by many authors, not as much works focused on long-term changes. In these subjects rest respiratory function may be limited by several factor: CHD itself (fetal pulmonary perfusion influences vascular and alveolar development), extracorporeal circulation (CEC), thoracotomy and/or sternotomy, rib and sternal contusions, pleural adhesions and pleural fibrosis, secondary to surgical injury. Moreover inflammatory cascade, triggered by CEC, can cause endothelial damage and compromise gas exchange. Aims: The project was conceived to 1) determine severity of respiratory functional impairement in different CHD undergone to surgical correction/palliation; 2) identify the most and the least CHD involved by pulmonary impairement; 3) find a correlation between a specific hemodynamic condition and functional anomaly, and 4) between rest respiratory function and cardiopulmonary exercise test. Materials and methods: We studied 113 subjects with CHD undergone to surgery, and distinguished by group in accord to pulmonary blood flow (group 0: 28 pts with normal pulmonary flow; group 1: 22 pts with increased flow; group 2: 43 pts with decreased flow; group 3: 20 pts with total cavo-pulmonary anastomosis-TCPC) followed by the Pediatric Cardiology and Cardiac Surgery Unit, and we compare them to 37 age- and sex-matched healthy subjects. In Pediatric Pulmonology Unit all pts performed respiratory function tests (static and dynamic volumes, flow/volume curve, airway resistances-raw- and conductance-gaw-, lung diffusion of CO-DLCO- and DLCO/alveolar volume), and CHD pts the same day had cardiopulmonary test. They all were examined and had allergological tests, and respiratory medical history. Results: restrictive pattern (measured on total lung capacity-TLC- and vital capacity-VC) was in all CHD groups, and up to 45% in group 2 and 3. Comparing all groups, we found a significant difference in TLC between healthy and group 2 (p=0.001) and 3 (p=0.004), and in VC between group 2 and healthy (p=0.001) and group 1(p=0.034). Inspiratory capacity (IC) was decreased in group 2 related to healthy (p<0.001) and group 1 (p=0.037). We showed a direct correlation between TLC and VC with age at surgery (p=0.01) and inverse with number of surgical interventions (p=0.03). Reduced FEV1/FVC ratio, Gaw and increased Raw were mostly present in group 3. DLCO was impaired in all groups, but up to 80% in group 3 and 50% in group 2; when corrected for alveolar volume (DLCO/VA) reduction persisted in group 3 (20%), 2 (6.2%) and 0 (7.1%). Exercise test was impaired in all groups: VO2max and VE markedly reduced in all but especially in group 3, and VE/VCO2 slope, marker of ventilatory response to exercise, is increased (<36) in 62.5% of group 3, where other pts had anyway value>32. Comparing group 3 and 2, the most involved categories, we found difference in VO2max and VE/VCO2 slope (respectively p=0.02 and p<0.0001). We evidenced correlation between rest and exercise tests, especially in group 0 (between VO2max and FVC, FEV1, VC, IC; inverse relation between VE/VCO2slope and FVC, FEV1 and VC), but also in group 1 (VO2max and IC), group 2 (VO2max and FVC and FEV1); never in group 3. Discussion: According with literature, we found a frequent impairment of rest pulmonary function in all groups, but especially in group 2 and 3. Restrictive pattern was the most frequent alteration probably due to compromised pulmonary (vascular and alveolar) development secondary to hypoperfusion in fetal and pre-surgery (and pre-TCPC)life. Parenchymal fibrosis, pleural adhesions and thoracic deformities can add further limitation, as showed by the correlation between group 3 and number of surgical intervention. Exercise tests were limited, particularly in group 3 (complex anatomy and lost of chronotropic response), and we found correlations between rest and exercise tests in all but group 3. We speculate that in this patients hemodynamic exceeds respiratory contribution, though markedly decreased.
33
Capelli, Marilù <1974>. "Sindrome di Down e fattori di rischio nel declino neurocognitivo." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2917/1/Capelli_Maril%C3%B9_tesi.pdf.
Full textAbstract:
Down syndrome (DS) or Trisomy 21, occurring in 1/700 and 1/1000 livebirths, is the most common genetic disorder, characterized by a third copy of the human chromosome 21 (Hsa21).
DS is associated with various defects, including congenital heart diseases, craniofacial abnormalities, immune system dysfunction, mental retardation (MR), learning and memory deficiency. The phenotypic features in DS are a direct consequence of overexpression of genes located within the triplicated region on Hsa21.
In addition to developmental brain abnormalities and disabilities, people with DS by the age of 30-40 have a greatly increased risk of early-onset of Alzheimer’s disease (AD) and an apparent tendency toward premature aging. Many of the immunological anomalies in DS can be enclosed in the spectrum of multiple signs of early senescence.
People with DS have an increased vulnerability to oxidative damage and many factors, including amyloid beta protein (Abeta), genotype ApoE4, oxidative stress, mutations in mitochondrial DNA (mtDNA), impairment of antioxidant enzymes, accelerated neuronal cell apoptosis, are related to neuronal degeneration and early aging in DS.
SUBJECTS and METHODS: Since 2007 a population of 50 adolescents and adults with DS, 26 males and 24 females (sex-ratio: M/F = 1.08), has been evaluated for the presence of neurological features, biomarkers and genetic factors correlated with neuronal degeneration and premature aging. The control group was determined by the mother and the siblings of the patients. A neuropsychiatric evaluation was obtained from all patients. The levels of thyroid antibodies (antiTg and antiTPO) and of some biochemical markers of oxidative stress, including homocysteine (tHcy), uric acid, cobalamin, folate were measured. All patients, the mother and the siblings were genotyped for ApoE gene.
RESULTS: 40% of patients, with a mild prevalence of females aged between 19 and 30 years, showed increased levels of antiTg and antiTPO. The levels of tHcy were normal in 52% patients and mildly increased in 40%; hyperomocysteinemia was associated with normal levels of thyroid antibodies in 75% of patients (p<0.005). The levels of uric acid were elevated in 26%.
Our study showed a prevalence of severe MR in patients aged between 1-18 years and over 30 years. Only 3 patients, 2 females and one male, over 30 years of age, showed dementia.
According to the literature, the rate of Down left-handers was high (25%) compared to the rest of population and the laterality was associated with increased levels of thyroid antibodies (70%). 21.5% of patients were ApoE4 positive (ApoE4+) with a mean/severe MR.
CONCLUSIONS: Until now no biochemical evidence of oxidative damage and no deficiency or alteration of antioxidant function in our patients with DS were found. mtDNA sequencing could show some mutations age-related and associated with oxidative damage and neurocognitive decline in the early aging of DS. The final aim is found predictive markers of early-onset dementia and a target strategy for the prevention and the treatment of diseases caused by oxidative stress.
REFERENCES:
1) Rachidi M, Lopes C: “Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.” - Eur J Paediatr Neurol. May;12(3):168-82 (2008).
2) Lott IT, Head E: “Down syndrome and Alzheimer's disease: a link between development and aging.” - Ment Retard Dev Disabil Res Rev, 7(3):172-8 (2001).
3) Lee HC, Wei YH: “Oxidative Stress, Mitochondrial DNA Mutation, and Apoptosis in Aging.” - Exp Biol Med (Maywood), May;232(5):592-606 (2007).
34
Capelli, Marilù <1974>. "Sindrome di Down e fattori di rischio nel declino neurocognitivo." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/2917/.
Full textAbstract:
Down syndrome (DS) or Trisomy 21, occurring in 1/700 and 1/1000 livebirths, is the most common genetic disorder, characterized by a third copy of the human chromosome 21 (Hsa21).
DS is associated with various defects, including congenital heart diseases, craniofacial abnormalities, immune system dysfunction, mental retardation (MR), learning and memory deficiency. The phenotypic features in DS are a direct consequence of overexpression of genes located within the triplicated region on Hsa21.
In addition to developmental brain abnormalities and disabilities, people with DS by the age of 30-40 have a greatly increased risk of early-onset of Alzheimer’s disease (AD) and an apparent tendency toward premature aging. Many of the immunological anomalies in DS can be enclosed in the spectrum of multiple signs of early senescence.
People with DS have an increased vulnerability to oxidative damage and many factors, including amyloid beta protein (Abeta), genotype ApoE4, oxidative stress, mutations in mitochondrial DNA (mtDNA), impairment of antioxidant enzymes, accelerated neuronal cell apoptosis, are related to neuronal degeneration and early aging in DS.
SUBJECTS and METHODS: Since 2007 a population of 50 adolescents and adults with DS, 26 males and 24 females (sex-ratio: M/F = 1.08), has been evaluated for the presence of neurological features, biomarkers and genetic factors correlated with neuronal degeneration and premature aging. The control group was determined by the mother and the siblings of the patients. A neuropsychiatric evaluation was obtained from all patients. The levels of thyroid antibodies (antiTg and antiTPO) and of some biochemical markers of oxidative stress, including homocysteine (tHcy), uric acid, cobalamin, folate were measured. All patients, the mother and the siblings were genotyped for ApoE gene.
RESULTS: 40% of patients, with a mild prevalence of females aged between 19 and 30 years, showed increased levels of antiTg and antiTPO. The levels of tHcy were normal in 52% patients and mildly increased in 40%; hyperomocysteinemia was associated with normal levels of thyroid antibodies in 75% of patients (p<0.005). The levels of uric acid were elevated in 26%.
Our study showed a prevalence of severe MR in patients aged between 1-18 years and over 30 years. Only 3 patients, 2 females and one male, over 30 years of age, showed dementia.
According to the literature, the rate of Down left-handers was high (25%) compared to the rest of population and the laterality was associated with increased levels of thyroid antibodies (70%). 21.5% of patients were ApoE4 positive (ApoE4+) with a mean/severe MR.
CONCLUSIONS: Until now no biochemical evidence of oxidative damage and no deficiency or alteration of antioxidant function in our patients with DS were found. mtDNA sequencing could show some mutations age-related and associated with oxidative damage and neurocognitive decline in the early aging of DS. The final aim is found predictive markers of early-onset dementia and a target strategy for the prevention and the treatment of diseases caused by oxidative stress.
REFERENCES:
1) Rachidi M, Lopes C: “Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.” - Eur J Paediatr Neurol. May;12(3):168-82 (2008).
2) Lott IT, Head E: “Down syndrome and Alzheimer's disease: a link between development and aging.” - Ment Retard Dev Disabil Res Rev, 7(3):172-8 (2001).
3) Lee HC, Wei YH: “Oxidative Stress, Mitochondrial DNA Mutation, and Apoptosis in Aging.” - Exp Biol Med (Maywood), May;232(5):592-606 (2007).
35
Sponza, Giorgio <1968>. "Studio di Mutazioni Geniche e Variazioni Copy-Number implicate nel deficit combinato degli Ormoni Ipofisari(CPHD)." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/3052/1/Sponza_Giorgio_tesi.pdf.
Full textAbstract:
La crescita normale di un individuo è il risultato dell’azione coordinata di molteplici ormoni e recettori codificati da geni e a tal proposito, discreto interesse è stato dato ai geni tipici dell’asse del GH. Tuttavia altri geni, più a monte di questi e responsabili dello sviluppo dell’ipofisi contribuiscono alla crescita normale o patologica. Alcuni geni studiati sono POU1F1, PROP1, LHX3, LHX4, HESX1, SOX3 e svariate loro mutazioni sono state identificate come causa di panipopituarismo (CPHD=Combined Pituitary Hormone Deficiency). In realtà la ricerca genetica non spiega ancora molte anomalie ipofisarie e molte mutazioni devono ancora essere identificate. Uno degli scopi del dottorato, svoltosi nel laboratorio di Genetica molecolare di Pediatria, è stata l’identificazione di mutazioni geniche da un gruppo di pazienti CPHD considerando in particolare i geni POU1F1, LHX3, SOX3, non ancora messi a punto presso il laboratorio. L’approccio sperimentale si è basato sulle seguenti fasi: prelievo delle informazioni di sequenza da GeneBank, progettazione di primers per amplificare le porzioni esoniche, messa a punto delle fasi della PCR e del sequenziamento, analisi della sequenza e confronto con le informazioni di sequenza depositate allo scopo di rintracciare eventuali mutazioni o varianti. La bassa percentuale di mutazioni in questi geni non ha permesso finora di rintracciare mutazioni nelle porzioni esoniche salvo che in un soggetto, nell’esone 6 di LHX3b (nuova mutazione, recessiva eterozigote, c.1248A>G implicata nella mutazione p.T377A della sequenza proteica). Un metodo di screening di questa mutazione impiegando l’enzima di restrizione SacII è stato usato, senza rilevare nessun altra occorrenza dell’allele mutato in 53 soggetti di controllo. Oltre alla messa a punto del sequenziamento e di alcune tecniche di analisi di singoli SNP o piccoli INDELs per i 3 geni, la ricerca svolta è stata orientata all’impiego di metodi di rilevamento di riarrangiamenti genetici comportanti ampie delezioni e/o variazioni del copy-number di esoni/interi geni detto MLPA (Multiplex Ligation-dependent Probe Amplification) e progettato da MRC-Holland. Il sequenziamento infatti non permette di rilevare tali alterazioni quando sono ampie ed in eterozigosi. Per esempio, in un’ampia delezione in eterozigosi, l’intervallo delimitato dai primers usati per la PCR può non includere totalmente la porzione interessata da delezione su un cromosoma cosicché la PCR ed il sequnziamento si basano solo sulle informazioni dell’altro cromosoma non deleto. Un vantaggio della tecnica MLPA, è l’analisi contemporanea di una quarantina di siti posti su svariati geni. Questa metodo tuttavia può essere affetto da un certo margine di errore spesso dipendente dalla qualità del DNA e dovrebbe essere affiancato e validato da altre tecniche più impegnativa dal punto di vista sperimentale ma più solide, per esempio la Real Time PCR detta anche PCR quantitativa (qPCR). In laboratorio, grazie all’MLPA si è verificata la condizione di delezione eterozigote di un paziente “storico” per il gene GH1 e la stessa mutazione è stata rilevata anche con la qPCR usando lo strumento Corbett Rotor Gene 6000 (Explera). Invece un’analisi solo con la qPCR di variazioni del copy-number (CNV) per SOX3 in pazienti maschili non ha ancora evidenziato anomalie. Entrambe le tecniche hanno aspetti interessanti, il miglior approccio al momento sembra un’analisi iniziale di pazienti con l’MLPA, seguita dalla verifica di un eventuale esito anomalo impiegando la real-time PCR.
36
Sponza, Giorgio <1968>. "Studio di Mutazioni Geniche e Variazioni Copy-Number implicate nel deficit combinato degli Ormoni Ipofisari(CPHD)." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/3052/.
Full textAbstract:
La crescita normale di un individuo è il risultato dell’azione coordinata di molteplici ormoni e recettori codificati da geni e a tal proposito, discreto interesse è stato dato ai geni tipici dell’asse del GH. Tuttavia altri geni, più a monte di questi e responsabili dello sviluppo dell’ipofisi contribuiscono alla crescita normale o patologica. Alcuni geni studiati sono POU1F1, PROP1, LHX3, LHX4, HESX1, SOX3 e svariate loro mutazioni sono state identificate come causa di panipopituarismo (CPHD=Combined Pituitary Hormone Deficiency). In realtà la ricerca genetica non spiega ancora molte anomalie ipofisarie e molte mutazioni devono ancora essere identificate. Uno degli scopi del dottorato, svoltosi nel laboratorio di Genetica molecolare di Pediatria, è stata l’identificazione di mutazioni geniche da un gruppo di pazienti CPHD considerando in particolare i geni POU1F1, LHX3, SOX3, non ancora messi a punto presso il laboratorio. L’approccio sperimentale si è basato sulle seguenti fasi: prelievo delle informazioni di sequenza da GeneBank, progettazione di primers per amplificare le porzioni esoniche, messa a punto delle fasi della PCR e del sequenziamento, analisi della sequenza e confronto con le informazioni di sequenza depositate allo scopo di rintracciare eventuali mutazioni o varianti. La bassa percentuale di mutazioni in questi geni non ha permesso finora di rintracciare mutazioni nelle porzioni esoniche salvo che in un soggetto, nell’esone 6 di LHX3b (nuova mutazione, recessiva eterozigote, c.1248A>G implicata nella mutazione p.T377A della sequenza proteica). Un metodo di screening di questa mutazione impiegando l’enzima di restrizione SacII è stato usato, senza rilevare nessun altra occorrenza dell’allele mutato in 53 soggetti di controllo. Oltre alla messa a punto del sequenziamento e di alcune tecniche di analisi di singoli SNP o piccoli INDELs per i 3 geni, la ricerca svolta è stata orientata all’impiego di metodi di rilevamento di riarrangiamenti genetici comportanti ampie delezioni e/o variazioni del copy-number di esoni/interi geni detto MLPA (Multiplex Ligation-dependent Probe Amplification) e progettato da MRC-Holland. Il sequenziamento infatti non permette di rilevare tali alterazioni quando sono ampie ed in eterozigosi. Per esempio, in un’ampia delezione in eterozigosi, l’intervallo delimitato dai primers usati per la PCR può non includere totalmente la porzione interessata da delezione su un cromosoma cosicché la PCR ed il sequnziamento si basano solo sulle informazioni dell’altro cromosoma non deleto. Un vantaggio della tecnica MLPA, è l’analisi contemporanea di una quarantina di siti posti su svariati geni. Questa metodo tuttavia può essere affetto da un certo margine di errore spesso dipendente dalla qualità del DNA e dovrebbe essere affiancato e validato da altre tecniche più impegnativa dal punto di vista sperimentale ma più solide, per esempio la Real Time PCR detta anche PCR quantitativa (qPCR). In laboratorio, grazie all’MLPA si è verificata la condizione di delezione eterozigote di un paziente “storico” per il gene GH1 e la stessa mutazione è stata rilevata anche con la qPCR usando lo strumento Corbett Rotor Gene 6000 (Explera). Invece un’analisi solo con la qPCR di variazioni del copy-number (CNV) per SOX3 in pazienti maschili non ha ancora evidenziato anomalie. Entrambe le tecniche hanno aspetti interessanti, il miglior approccio al momento sembra un’analisi iniziale di pazienti con l’MLPA, seguita dalla verifica di un eventuale esito anomalo impiegando la real-time PCR.
37
Locatelli, Chiara <1977>. "NGAL urinaria come marker di acute kidney injury in very low birth weight infants." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3696/1/locatelli_chiara_tesi.pdf.
Full text
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Locatelli, Chiara <1977>. "NGAL urinaria come marker di acute kidney injury in very low birth weight infants." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3696/.
Full text
39
Bucci, Micaela <1975>. "Timing per l'inserimento in lista dei pazienti affetti da fibrosi cistica che necessitano di trapianto polmonare: casistica di un centro regionale di riferimento." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3822/1/bucci_micaela_tesi.pdf.
Full textAbstract:
Timing of waiting list entrance for patients with cystic fibrosis in need of pulmonary transplant: the experience of a regional referral centre
Objective: Evaluation of parameters that can predict a rapid decay of general conditions of patients affected by Cystic Fibrosis (CF) with no specific criteria to be candidate to pulmonary transplant.
Material and methods: Fifteen patients with CF who died for complications and 8 who underwent lung transplantation in the 2000-2010 decade, were enrolled. Clinical data 2 years before the event (body max index, FEV1%, number of EV antibiotic treatments per year, colonization with Methicillin-resistant Staphylococcus aureus (MRSA), pseudomonas aeruginosa mucosus, burkholderia cepacia, pulmonary allergic aspergilosis) were compared among the 2 groups.
Results: Mean FEV1% was significantly higher and mean number of antibiotic treatment was lower in deceased than in the transplanted patients (p<0.002 and p<0.001 respectively). Although in patients who died there were no including criteria to enter the transplant list 2 years before the exitus, suggestive findings such as low BMI (17.3), high incidence of hepatic pathology (33.3%), diabetes (50%), and infections with MRSA infection (25%), Pseudomonas aeruginosa (83.3%) and burkholderia cepacia (8.3%) were found with no statistical difference with transplanted patients, suggesting those patients were at risk of severe prognosis. In patients who died, females were double than males.
Conclusion: While evaluating patients with CF, negative prognostic factors such as the ones investigated in this study, should be considered to select individuals with high mortality risk who need stricter therapeutical approach and follow up. Inclusion of those patients in the transplant waiting list should be taken into account.
40
Bucci, Micaela <1975>. "Timing per l'inserimento in lista dei pazienti affetti da fibrosi cistica che necessitano di trapianto polmonare: casistica di un centro regionale di riferimento." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3822/.
Full textAbstract:
Timing of waiting list entrance for patients with cystic fibrosis in need of pulmonary transplant: the experience of a regional referral centre
Objective: Evaluation of parameters that can predict a rapid decay of general conditions of patients affected by Cystic Fibrosis (CF) with no specific criteria to be candidate to pulmonary transplant.
Material and methods: Fifteen patients with CF who died for complications and 8 who underwent lung transplantation in the 2000-2010 decade, were enrolled. Clinical data 2 years before the event (body max index, FEV1%, number of EV antibiotic treatments per year, colonization with Methicillin-resistant Staphylococcus aureus (MRSA), pseudomonas aeruginosa mucosus, burkholderia cepacia, pulmonary allergic aspergilosis) were compared among the 2 groups.
Results: Mean FEV1% was significantly higher and mean number of antibiotic treatment was lower in deceased than in the transplanted patients (p<0.002 and p<0.001 respectively). Although in patients who died there were no including criteria to enter the transplant list 2 years before the exitus, suggestive findings such as low BMI (17.3), high incidence of hepatic pathology (33.3%), diabetes (50%), and infections with MRSA infection (25%), Pseudomonas aeruginosa (83.3%) and burkholderia cepacia (8.3%) were found with no statistical difference with transplanted patients, suggesting those patients were at risk of severe prognosis. In patients who died, females were double than males.
Conclusion: While evaluating patients with CF, negative prognostic factors such as the ones investigated in this study, should be considered to select individuals with high mortality risk who need stricter therapeutical approach and follow up. Inclusion of those patients in the transplant waiting list should be taken into account.
41
Forti, Sara <1972>. "Studio della funzionalità respiratoria in soggetti con sindrome di Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3829/1/forti_sara_tesi.pdf.
Full textAbstract:
The aim of this study is to evaluate the pulmonary function in subjects with diagnosis of Turner Syndrome, in charge at the Syndromology Ward of the Paediatric Clinic of S.Orsola-Malpighi hospital. There are very few datas about lung function in patients with Turner syndrome’s genotype and phenotype in medical literature.
Since the thorax of these subjects have peculiar anatomic shape (as “shield” or “overturned triangle”), we presupposed that these subjects could have also a peculiar respiratory function.
Moreover we look for the possibility of correlation between pulmonary function and estroprogestinic replacement therapy and/or growth hormone (GH) replacement therapy.
Material and methods:
we studied 48 patients, with diagnosis of Turner Syndrome; they all made spirometry voluntarily and, when capable, also plethismografy.
Results:
- the parametres of pulmonary function are a little higher of the predicted values for age and sex but they are a little lower if they're corrected for each patient’s ideal high and weight: so we can conclude that in Turner Syndrme subjects pulmonary function is normal;
-there’s not a statistically significant correlation between pulmonary function and GH therapy;
-there’s not a statistically significant correlation between GH therapy’s length and pulmonary function except for Total Lung Capacity which increases with the number of years of GH therapy;
- there’s not a statistically significant correlation between pulmonary function and estroprogestinic replacement herapy.
42
Forti, Sara <1972>. "Studio della funzionalità respiratoria in soggetti con sindrome di Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3829/.
Full textAbstract:
The aim of this study is to evaluate the pulmonary function in subjects with diagnosis of Turner Syndrome, in charge at the Syndromology Ward of the Paediatric Clinic of S.Orsola-Malpighi hospital. There are very few datas about lung function in patients with Turner syndrome’s genotype and phenotype in medical literature.
Since the thorax of these subjects have peculiar anatomic shape (as “shield” or “overturned triangle”), we presupposed that these subjects could have also a peculiar respiratory function.
Moreover we look for the possibility of correlation between pulmonary function and estroprogestinic replacement therapy and/or growth hormone (GH) replacement therapy.
Material and methods:
we studied 48 patients, with diagnosis of Turner Syndrome; they all made spirometry voluntarily and, when capable, also plethismografy.
Results:
- the parametres of pulmonary function are a little higher of the predicted values for age and sex but they are a little lower if they're corrected for each patient’s ideal high and weight: so we can conclude that in Turner Syndrme subjects pulmonary function is normal;
-there’s not a statistically significant correlation between pulmonary function and GH therapy;
-there’s not a statistically significant correlation between GH therapy’s length and pulmonary function except for Total Lung Capacity which increases with the number of years of GH therapy;
- there’s not a statistically significant correlation between pulmonary function and estroprogestinic replacement herapy.
43
Maranella, Eugenia <1977>. "Predittori precoci di outcome neurologico nei neonati affetti da Encefalopatia Ipossico-Ischemica sottoposti a trattamento ipotermico. Studio combinato Elettroencefalogramma ad integrazione di ampiezza e Spettroscopia nel vicino infrarosso." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4325/1/Tesi_dottorato_Maranella.pdf.
Full textAbstract:
Background: Brain cooling (BC) represents the elective treatment in asphyxiated newborns. Amplitude Integrated Electroencephalography (aEEG) and Near Infrared Spectroscopy (NIRS) monitoring may help to evaluate changes in cerebral electrical activity and cerebral hemodynamics during hypothermia.
Objectives: To evaluate the prognostic value of aEEG time course and NIRS data in asphyxiated cooled infants.
Methods: 12 term neonates admitted to our NICU with moderate-severe Hypoxic-Ischemic Encephalopathy (HIE) underwent selective BC. aEEG and NIRS monitoring were started as soon as possible and maintained during the whole hypothermic treatment. Follow-up was scheduled at regular intervals; adverse outcome was defined as death, cerebral palsy (CP) or global quotient < 88.7 at Griffiths’ Scale.
Results: 2/12 infants died, 2 developed CP, 1 was normal at 6 months of age and then lost at follow-up and 7 showed a normal outcome at least at 1 year of age. The aEEG background pattern at 24 hours of life was abnormal in 10 newborns; only 4 of them developed an adverse outcome, whereas the 2 infants with a normal aEEG developed normally. In infants with adverse outcome NIRS showed a higher Tissue Oxygenation Index (TOI) than those with normal outcome (80.0±10.5% vs 66.9±7.0%, p=0.057; 79.7±9.4% vs 67.1±7.9%, p=0.034; 80.2±8.8% vs 71.6±5.9%, p=0.069 at 6, 12 and 24 hours of life, respectively).
Conclusions: The aEEG background pattern at 24 hours of life loses its positive predictive value after BC implementation; TOI could be useful to predict early on infants that may benefit from other innovative therapies.
44
Maranella, Eugenia <1977>. "Predittori precoci di outcome neurologico nei neonati affetti da Encefalopatia Ipossico-Ischemica sottoposti a trattamento ipotermico. Studio combinato Elettroencefalogramma ad integrazione di ampiezza e Spettroscopia nel vicino infrarosso." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4325/.
Full textAbstract:
Background: Brain cooling (BC) represents the elective treatment in asphyxiated newborns. Amplitude Integrated Electroencephalography (aEEG) and Near Infrared Spectroscopy (NIRS) monitoring may help to evaluate changes in cerebral electrical activity and cerebral hemodynamics during hypothermia.
Objectives: To evaluate the prognostic value of aEEG time course and NIRS data in asphyxiated cooled infants.
Methods: 12 term neonates admitted to our NICU with moderate-severe Hypoxic-Ischemic Encephalopathy (HIE) underwent selective BC. aEEG and NIRS monitoring were started as soon as possible and maintained during the whole hypothermic treatment. Follow-up was scheduled at regular intervals; adverse outcome was defined as death, cerebral palsy (CP) or global quotient < 88.7 at Griffiths’ Scale.
Results: 2/12 infants died, 2 developed CP, 1 was normal at 6 months of age and then lost at follow-up and 7 showed a normal outcome at least at 1 year of age. The aEEG background pattern at 24 hours of life was abnormal in 10 newborns; only 4 of them developed an adverse outcome, whereas the 2 infants with a normal aEEG developed normally. In infants with adverse outcome NIRS showed a higher Tissue Oxygenation Index (TOI) than those with normal outcome (80.0±10.5% vs 66.9±7.0%, p=0.057; 79.7±9.4% vs 67.1±7.9%, p=0.034; 80.2±8.8% vs 71.6±5.9%, p=0.069 at 6, 12 and 24 hours of life, respectively).
Conclusions: The aEEG background pattern at 24 hours of life loses its positive predictive value after BC implementation; TOI could be useful to predict early on infants that may benefit from other innovative therapies.
45
Bettocchi, Ilaria <1976>. "New approach in the diagnosis and therapy of hyperphenylalaninemia." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4593/1/Bettocchi_Ilaria_tesi.pdf.
Full textAbstract:
Background. Phenylketonuria is the most prevalent inborn error of aminoacid metabolism. Is an autosomal recessive disorder. It results from mutations in the phenylalanine hydroxilase (PAH) gene. Phenotypes can vary from mild hyperphenylalaninemia to a severe phenylketonuria wich, if untreated, results in severe mental retardation. Thanks to neonatal screening programmes, early detection and promp dietetic intervention (phenylalanine restricted diet lifelong) has allowed to avoid neurocognitive complications. Recently, a new therapy is become widely used: the oral supplementation with the PAH cofactor (BH4), wich can alleviate the diet burden. Genotype-phenotype correlation is a reliable tool to predict metabolic phenotype in order to establish a better tailored diet and to assess the potential responsiveness to BH4 therapy.
Aim Molecular analysis of the PAH gene, evaluation of genotype-phenotype correlation and prediction of BH4 responsiveness in a group of HPA patients living in Emilia Romagna.
Patients and methods. We studied 48 patients affected by PAH deficiency in regular follow-up to our Metabolic Centre. We performed the molecular analysis of these patients using genomic DNA extracted from peripheral blood samples
Results. We obtained a full genotipic characterization of 46 patients. We found 87 mutant alleles and 35 different mutations, being the most frequent IVS10-11 G>A (19.3%), R261Q (9.1%), R158Q (9.1%), R408Q (6.8%) and A403V (5.7%), including 2 new ones (L287, N223Y) ever described previously.
Notably, we found 15 mutations already identified in BH4-responsive patients, according to the literature. We found 42 different genotipic combinations, most of them in single patients and involving a BH4-responsive mutation.
Conclusion. BH4 responsiveness is shown by a consistent number of PAH deficient hyperphenylalaninemic patients. This treatment, combined with a less restricted diet or as monotherapy, can reduce nutritional complications and improve the quality of life of these patients.
46
Bettocchi, Ilaria <1976>. "New approach in the diagnosis and therapy of hyperphenylalaninemia." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4593/.
Full textAbstract:
Background. Phenylketonuria is the most prevalent inborn error of aminoacid metabolism. Is an autosomal recessive disorder. It results from mutations in the phenylalanine hydroxilase (PAH) gene. Phenotypes can vary from mild hyperphenylalaninemia to a severe phenylketonuria wich, if untreated, results in severe mental retardation. Thanks to neonatal screening programmes, early detection and promp dietetic intervention (phenylalanine restricted diet lifelong) has allowed to avoid neurocognitive complications. Recently, a new therapy is become widely used: the oral supplementation with the PAH cofactor (BH4), wich can alleviate the diet burden. Genotype-phenotype correlation is a reliable tool to predict metabolic phenotype in order to establish a better tailored diet and to assess the potential responsiveness to BH4 therapy.
Aim Molecular analysis of the PAH gene, evaluation of genotype-phenotype correlation and prediction of BH4 responsiveness in a group of HPA patients living in Emilia Romagna.
Patients and methods. We studied 48 patients affected by PAH deficiency in regular follow-up to our Metabolic Centre. We performed the molecular analysis of these patients using genomic DNA extracted from peripheral blood samples
Results. We obtained a full genotipic characterization of 46 patients. We found 87 mutant alleles and 35 different mutations, being the most frequent IVS10-11 G>A (19.3%), R261Q (9.1%), R158Q (9.1%), R408Q (6.8%) and A403V (5.7%), including 2 new ones (L287, N223Y) ever described previously.
Notably, we found 15 mutations already identified in BH4-responsive patients, according to the literature. We found 42 different genotipic combinations, most of them in single patients and involving a BH4-responsive mutation.
Conclusion. BH4 responsiveness is shown by a consistent number of PAH deficient hyperphenylalaninemic patients. This treatment, combined with a less restricted diet or as monotherapy, can reduce nutritional complications and improve the quality of life of these patients.
47
Mencarelli, Francesca <1976>. "Studio della funzione cardiaca e della massa ventricolare sinistra mediante ecocardiografia convenzionale e tissue doppler imaging in una popolazione pediatrica con malattia renale cronica in terapia conservativa e sostitutiva." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4617/1/mencarelli_francesca_tesi.pdf.
Full textAbstract:
Background: Cardiovascular disease (CVD) is a common cause of morbidity and mortality in childhood chronic kidney disease (CKD). Left ventricular hypertrophy (LVH) is known to be one of the earliest events in CVD development. Left ventricular diastolic function (DF) is thought to be also impaired in children with CKD. Tissue Doppler imaging (TDI) provide an accurate measure of DF and is less load dependent than conventional ECHO.
Aim: To evaluate the LV mass and the DF in a population of children with CKD.
Methods: 37 patients, median age: 10.4 (3.3-19.8); underlying renal disease: hypo/dysplasia (N=28), nephronophthisis (N=4), Alport (N=2), ARPKD (N=3), were analyzed. Thirty-eight percent of the patients were on stage 1-2 of CKD, 38% on stage 3, 16% on stage 4. Three patients were on dialysis. The most frequent factors related to CVD in CKD have been studied. LVH has been defined as a left ventricular mass index (LVMI) more than 35.7 g/h2,7.
Results: Twenty-five patients (81%) had a LVH. LVMI and diastolic function index (E’/A’) were significantly related to the glomerular filtration rate (p<0.003 and p<0.004). Moreover the LVMI was correlated with the phosphorus and the hemoglobin level (p<0.0001 and p<0.004). LVH was present since the first stages of CKD (58% of patients were on stages 1-2). Early-diastolic myocardial velocity was reduced in 73% of our patients.
We didn’t find any correlation between LVH and systemic hypertension.
Conclusion: ECHO evaluation with TDI is suggested also in children prior to dialysis and with a normal blood pressure. If LVH is diagnosed, a periodic follow-up is necessary with the treatment of the modifiable risk factors (hypertension, disturbances of calcium, phosphorus and PTH, anemia ).
48
Mencarelli, Francesca <1976>. "Studio della funzione cardiaca e della massa ventricolare sinistra mediante ecocardiografia convenzionale e tissue doppler imaging in una popolazione pediatrica con malattia renale cronica in terapia conservativa e sostitutiva." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4617/.
Full textAbstract:
Background: Cardiovascular disease (CVD) is a common cause of morbidity and mortality in childhood chronic kidney disease (CKD). Left ventricular hypertrophy (LVH) is known to be one of the earliest events in CVD development. Left ventricular diastolic function (DF) is thought to be also impaired in children with CKD. Tissue Doppler imaging (TDI) provide an accurate measure of DF and is less load dependent than conventional ECHO.
Aim: To evaluate the LV mass and the DF in a population of children with CKD.
Methods: 37 patients, median age: 10.4 (3.3-19.8); underlying renal disease: hypo/dysplasia (N=28), nephronophthisis (N=4), Alport (N=2), ARPKD (N=3), were analyzed. Thirty-eight percent of the patients were on stage 1-2 of CKD, 38% on stage 3, 16% on stage 4. Three patients were on dialysis. The most frequent factors related to CVD in CKD have been studied. LVH has been defined as a left ventricular mass index (LVMI) more than 35.7 g/h2,7.
Results: Twenty-five patients (81%) had a LVH. LVMI and diastolic function index (E’/A’) were significantly related to the glomerular filtration rate (p<0.003 and p<0.004). Moreover the LVMI was correlated with the phosphorus and the hemoglobin level (p<0.0001 and p<0.004). LVH was present since the first stages of CKD (58% of patients were on stages 1-2). Early-diastolic myocardial velocity was reduced in 73% of our patients.
We didn’t find any correlation between LVH and systemic hypertension.
Conclusion: ECHO evaluation with TDI is suggested also in children prior to dialysis and with a normal blood pressure. If LVH is diagnosed, a periodic follow-up is necessary with the treatment of the modifiable risk factors (hypertension, disturbances of calcium, phosphorus and PTH, anemia ).
49
Vandini, Silvia <1978>. "Valutazione della funzione renale nei nati pretermine alla nascita e a medio termine." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2013. http://amsdottorato.unibo.it/5470/1/Vandini_Silvia_tesi.pdf.
Full textAbstract:
La nascita pretermine determina un’alterazione dei normali processi di maturazione dei vari organi ed apparati che durante la gravidanza fisiologica si completano durante le 38-40 settimane di vita intrauterina. Queste alterazioni sono alla base della mortalità e morbilità perinatale che condiziona la prognosi a breve termine di questa popolazione, ma possono determinare anche sequele a medio e lungo termine.
E’ stato ampiamente documentato che la nefrogenesi si completa a 36 settimane di vita intrauterina e pertanto la nascita pretermine altera il decorso fisiologico di tale processo; a questa condizione di immaturità si sovrappongono i fattori patogeni che possono determinare danno renale acuto in epoca neonatale, a cui i pretermine sono in larga misura esposti.
Queste condizioni conducono ad un rischio di alterazioni della funzione renale di entità variabile in età infantile ed adulta.
Nel presente studio è stata studiata la funzione renale in 29 bambini di 2-4 anni di età, precedentemente sottoposti a valutazione della funzione renale alla nascita durante il ricovero in Terapia Intensiva Neonatale.
I dati raccolti hanno mostrato la presenza di alterazioni maggiori (sindrome nefrosica, riduzione di eGFR) in un ridotto numero di soggetti e alterazioni minori ed isolate (proteinuria di lieve entità, riduzione del riassorbimento tubulare del fosforo, pressione arteriosa tra il 90° e il 99° percentile per sesso ed altezza).
L’età di 2-4 anni, alla luce dei risultati ottenuti, può rappresentare un momento utile per effettuare una valutazione di screening di funzione renale in una popolazione a rischio come i pretermine, con lo scopo di individuare i soggetti che richiedano una presa in carico specialistica ed un follow-up a lungo termine.Preterm birth may be associated to an impairment of the development that is completed after 40 weeks of gestation in term newborn. These alterations may lead to perinatal mortality and morbidity that are higher in preterm than in term newborn, and they may also determine short and long term sequelae. It was reported by several authors that nephrogenesis is completed at 36 weeks of gestation; for this reason preterm birth interrupts the physiological course of process; moreover, preterm newborns are exposed to several risk factors for acute kidney injury. These conditions are responsible of an increased risk of renal impairment in children and adults born prematurely. The aim of this study was to investigate renal function in 29 children 2-4 years old born prematurely and previously investigated for renal function in the perinatal period. We observed in the study group both major renal disorders (nephrotic syndrome and decreased eGFR)in a few infants, and mild impairment (mild proteinuria, decreased TRP, systolic blood pressure higher than 90° centile). Our results suggest that infants born prematurely could be screened for renal function in prescholar age to detect subjects requiring a long term follow up for renal function.
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Vandini, Silvia <1978>. "Valutazione della funzione renale nei nati pretermine alla nascita e a medio termine." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2013. http://amsdottorato.unibo.it/5470/.
Full textAbstract:
La nascita pretermine determina un’alterazione dei normali processi di maturazione dei vari organi ed apparati che durante la gravidanza fisiologica si completano durante le 38-40 settimane di vita intrauterina. Queste alterazioni sono alla base della mortalità e morbilità perinatale che condiziona la prognosi a breve termine di questa popolazione, ma possono determinare anche sequele a medio e lungo termine.
E’ stato ampiamente documentato che la nefrogenesi si completa a 36 settimane di vita intrauterina e pertanto la nascita pretermine altera il decorso fisiologico di tale processo; a questa condizione di immaturità si sovrappongono i fattori patogeni che possono determinare danno renale acuto in epoca neonatale, a cui i pretermine sono in larga misura esposti.
Queste condizioni conducono ad un rischio di alterazioni della funzione renale di entità variabile in età infantile ed adulta.
Nel presente studio è stata studiata la funzione renale in 29 bambini di 2-4 anni di età, precedentemente sottoposti a valutazione della funzione renale alla nascita durante il ricovero in Terapia Intensiva Neonatale.
I dati raccolti hanno mostrato la presenza di alterazioni maggiori (sindrome nefrosica, riduzione di eGFR) in un ridotto numero di soggetti e alterazioni minori ed isolate (proteinuria di lieve entità, riduzione del riassorbimento tubulare del fosforo, pressione arteriosa tra il 90° e il 99° percentile per sesso ed altezza).
L’età di 2-4 anni, alla luce dei risultati ottenuti, può rappresentare un momento utile per effettuare una valutazione di screening di funzione renale in una popolazione a rischio come i pretermine, con lo scopo di individuare i soggetti che richiedano una presa in carico specialistica ed un follow-up a lungo termine.Preterm birth may be associated to an impairment of the development that is completed after 40 weeks of gestation in term newborn. These alterations may lead to perinatal mortality and morbidity that are higher in preterm than in term newborn, and they may also determine short and long term sequelae. It was reported by several authors that nephrogenesis is completed at 36 weeks of gestation; for this reason preterm birth interrupts the physiological course of process; moreover, preterm newborns are exposed to several risk factors for acute kidney injury. These conditions are responsible of an increased risk of renal impairment in children and adults born prematurely. The aim of this study was to investigate renal function in 29 children 2-4 years old born prematurely and previously investigated for renal function in the perinatal period. We observed in the study group both major renal disorders (nephrotic syndrome and decreased eGFR)in a few infants, and mild impairment (mild proteinuria, decreased TRP, systolic blood pressure higher than 90° centile). Our results suggest that infants born prematurely could be screened for renal function in prescholar age to detect subjects requiring a long term follow up for renal function.