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1

Muzumdar, Hiren, e Raanan Arens. "Central Alveolar Hypoventilation Syndromes". Sleep Medicine Clinics 3, n.º 4 (dezembro de 2008): 601–15. http://dx.doi.org/10.1016/j.jsmc.2008.08.006.

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2

Seriff, Nathan S. "ALVEOLAR HYPOVENTILATION WITH NORMAL LUNGS: THE SYNDROME OF PRIMARY OR CENTRAL ALVEOLAR HYPOVENTILATION *". Annals of the New York Academy of Sciences 121, n.º 3 (16 de dezembro de 2006): 691–705. http://dx.doi.org/10.1111/j.1749-6632.1965.tb14238.x.

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3

Milerad, J., H. Lagercrantz e O. Lofgren. "Alveolar hypoventilation treated with medroxyprogesterone." Archives of Disease in Childhood 60, n.º 2 (1 de fevereiro de 1985): 150–55. http://dx.doi.org/10.1136/adc.60.2.150.

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4

Guilleminault, Christian, Riccardo Stoohs, Hartmut Schneider, Thomas Podszus, J. Herman Peter e Peter von Wichert. "Central Alveolar Hypoventilation and Sleep". Chest 96, n.º 5 (novembro de 1989): 1210–12. http://dx.doi.org/10.1378/chest.96.5.1210.

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5

Kim, Heakyung, e John R. Bach. "Central alveolar hypoventilation in neurosarcoidosis". Archives of Physical Medicine and Rehabilitation 79, n.º 11 (novembro de 1998): 1467–68. http://dx.doi.org/10.1016/s0003-9993(98)90245-3.

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6

HIDA, Wataru. "Novel Aspects of Primary Alveolar Hypoventilation". Internal Medicine 40, n.º 6 (2001): 463–64. http://dx.doi.org/10.2169/internalmedicine.40.463.

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7

AlOtair, Hadil, Abdulaziz Alzeer, Mohammed Abdou e Shaden Qasrawi. "Unusual case of central alveolar hypoventilation". Saudi Medical Journal 39, n.º 3 (12 de março de 2018): 305–10. http://dx.doi.org/10.15537/smj.2018.3.210803.

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8

Ji, Ki-Hwan. "The Need for Titration With Polysomnography of Noninvasive Positive Pressure Ventilation in a Patient With Hypoventilation Syndrome With Kyphoscoliosis". Sleep Medicine Research 13, n.º 1 (30 de junho de 2022): 59–62. http://dx.doi.org/10.17241/smr.2022.01256.

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Attended noninvasive positive airway pressure (PAP) with polysomnography (PSG) is recommended for determining the level of ventilatory support and bilevel PAP required for patients with chronic alveolar hypoventilation syndromes. We present a case of a 24-year-old male with kyphoscoliosis who presented with dyspnea. The patient was diagnosed with chronic alveolar hypoventilation and had bilevel PAP titrated by referring to tidal volume and arterial gas analysis during the day. After further titration with PSG there was stable ventilation during non-rapid eye movement sleep but unstable on entering rapid eye movement sleep.
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9

Rojanapairat, Oragun, Abigail Beggs, Melisa Chang e Aaron Thomas. "1235 REM Sleep Associated Hypoventilation". Sleep 43, Supplement_1 (abril de 2020): A471. http://dx.doi.org/10.1093/sleep/zsaa056.1229.

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Abstract Introduction Hypoventilation is a spectrum of respiratory disorders that is frequently found in patients with chronic obstructive pulmonary disease, restrictive lung disease (eg obesity, neuromuscular, severe interstitial lung disease, and chest wall disease), chronic sedative use, and hypothyroidism. Rapid eye movement (REM) sleep hypoventilation may be the first manifestation of hypoventilation prior to development of non-REM sleep hypoventilation and eventual awake alveolar hypoventilation. We present a case of hypoventilation during REM sleep with mild restriction on pulmonary function testing, prior to the development of obesity hypoventilation syndrome (OHS). Report of Case 68-year-old male with past medical history of diastolic heart failure, class Ill obesity (BMI 46), hypertension, chronic kidney disease lllb, and diabetes mellitus underwent split night polysomnography for evaluation of snoring, witnessed apneas and excessive daytime sleepiness. The study was significant for an apnea hypopnea index of 105/hour, and REM sleep sustained desaturation to a nadir of 72% without apneas or hypopneas, suspicious for hypoventilation. The derangements during REM sleep did not correct during PAP titration despite CPAP and supplemental oxygen. End tidal capnography was not available for the study. Follow up PFT demonstrated normal spirometry, mild restrictive lung volumes, ERV 27%, and severely depressed DLCO which corrected for alveolar volume. Daytime arterial blood gas did not reveal hypercapnia or hypoxemia (7.37/39/78/23). He underwent successful nocturnal titration with average volume assured pressure support with the final settings of IPAP 24-30, EPAP 20, VT 560 (8 ml/kg IBW), rate of 12 breaths per minute and no supplemental oxygen. Conclusion This patient demonstrates REM sleep hypoventilation without overt OHS during all stages of sleep, which likely would progress to OHS over time. OHS is associated with increased rates of chronic heart failure, pulmonary hypertension, hospitalizations for respiratory failure, and mortality. Early recognition and treatment are important in improving morbidity and mortality.
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10

Hou, Linle, Jonathan Stoll, Lauren Pioppo, Jack Xu e Wajahat Khan. "Transient Acquired Hypoventilation Syndrome Secondary to Uncal Herniation Is Successfully Treated with Bilevel Noninvasive Positive Pressure Ventilation". Case Reports in Critical Care 2018 (17 de dezembro de 2018): 1–3. http://dx.doi.org/10.1155/2018/7013916.

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Background.To describe an unusual presentation of acquired hypoventilation syndrome treated successfully with noninvasive positive pressure ventilation.Case Presentation.We report a case report of a 48-year-old male who presented to the emergency room for recurrent syncope. He was found to have a ventricular colloid cyst causing uncal herniation. The patient was noted to be intermittently apneic and bradypnic. Transient hypoventilation was successfully treated with noninvasive positive pressure ventilation and the patient made a full neurological recovery following transcallosal resection of the colloid cyst. Subsequently, the hypoventilation resolved.Conclusion.With prompt surgical intervention, full neurological recovery is possible after cerebral uncal herniation. In rare circumstances, this can result in transient alveolar hypoventilation. Bilevel noninvasive positive pressure ventilation can be used to successfully manage the hypoventilation.
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11

FUNADA, Yasuhiro, Yoshihiro NISHIMURA, Kohei KAMEMURA, Takeo NAKAJIMA, Takaaki TSUCHIYA, Teruaki NISHIUMA, Yoshikazu KOTANI, Yoshio YAMANAKA, Yoshio OHNISHI e Mitsuhiro YOKOYAMA. "Familial Adult Onset Primary Alveolar Hypoventilation Syndrome." Internal Medicine 40, n.º 6 (2001): 526–31. http://dx.doi.org/10.2169/internalmedicine.40.526.

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12

Doblas, A., M. Herrera, J. Venegas, R. Barba, M. Rodriguez e E. Barrot. "Successful diaphragmatic pacing for idiopathic alveolar hypoventilation". Intensive Care Medicine 16, n.º 7 (julho de 1990): 469–71. http://dx.doi.org/10.1007/bf01711230.

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13

KAWATA, Akihiro, Masakazu SUGA, Kazuhito MIYAMOTO, Kazuhiko HIROSE e Hitoshi TANABE. "Rigid Spine Syndrome and Nocturnal Alveolar Hypoventilation." Internal Medicine 32, n.º 8 (1993): 638–40. http://dx.doi.org/10.2169/internalmedicine.32.638.

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14

HARA, Johsuke, Masaki FUJIMURA, Shigeharu MYOU, Yoshitaka ORIBE, Shiho FURUSHO, Masahide YAMAZAKI e Shinji NAKAO. "Primary Alveolar Hypoventilation Syndrome Complicated with Antiphospholipid Syndrome". Internal Medicine 44, n.º 9 (2005): 987–89. http://dx.doi.org/10.2169/internalmedicine.44.987.

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15

Martin, Thomas J., e Mark H. Sanders. "Chronic Alveolar Hypoventilation: A Review for the Clinician". Sleep 18, n.º 8 (outubro de 1995): 617–34. http://dx.doi.org/10.1093/sleep/18.8.617.

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16

Roncoroni, Aquiles J., Guillermo C. Montiel e Guillermo B. Semeniuk. "Bilateral Carotid Body Paraganglioma and Central Alveolar Hypoventilation". Respiration 60, n.º 4 (1993): 243–46. http://dx.doi.org/10.1159/000196208.

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17

Bach, John R., e Augusta S. Alba. "Management of Chronic Alveolar Hypoventilation by Nasal Ventilation". Chest 97, n.º 1 (janeiro de 1990): 52–57. http://dx.doi.org/10.1378/chest.97.1.52.

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18

Larrosa-Barrero, R., W. I. Girón Matute, A. Manrique Mutiozábal, A. Hernández Voth e J. Sayas Catalán. "Central alveolar hypoventilation due to progressive multifocal leukoencephalopathy". Pulmonology 24, n.º 1 (janeiro de 2018): 54–56. http://dx.doi.org/10.1016/j.pulmoe.2017.12.002.

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19

Lee, David K. P., Gary W. Wahl, Andrew J. Swinburne e Anthony J. Fedullo. "Recurrent Acoustic Neuroma Presenting as Central Alveolar Hypoventilation". Chest 105, n.º 3 (março de 1994): 949–50. http://dx.doi.org/10.1378/chest.105.3.949.

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20

Nielson, Dennis W., e Philip G. Black. "Mask ventilation in congenital central alveolar hypoventilation syndrome". Pediatric Pulmonology 9, n.º 1 (1990): 44–45. http://dx.doi.org/10.1002/ppul.1950090110.

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21

Briones Claudett, Killen, e Michelle Grunauer. "Unusual case of central alveolar hypoventilation. Lessons learned from ventilatory management of patients with alveolar hypoventilation in critical care conditions". Saudi Medical Journal 39, n.º 5 (1 de maio de 2018): 534–35. http://dx.doi.org/10.15537/smj.2018.5.22633.

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22

Shah, Neeraj M., Sonia Shrimanker e Georgios Kaltsakas. "Defining obesity hypoventilation syndrome". Breathe 17, n.º 3 (setembro de 2021): 210089. http://dx.doi.org/10.1183/20734735.0089-2021.

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With increasing prevalence of obesity, the substantial contribution of obesity hypoventilation syndrome (OHS) to morbidity and mortality is likely to increase. It is therefore crucial that the condition has a clear definition to allow timely identification of patients. OHS was first described as “Pickwickian syndrome” in the 1950s; in subsequent decades, case reports did not clearly delineate between patients suffering from OHS and those suffering from obstructive sleep apnoea. In 1999, the American Academy of Sleep Medicine published a guideline that delineated the cause of daytime hypercapnia as either predominantly upper airway or predominantly hypoventilation. This was the first formal definition of OHS as the presence of daytime alveolar hypoventilation (arterial carbon dioxide tension >45 mmHg) in patients with body mass index >30 kg·m−2 in the absence of other causes of hypoventilation. This definition is reflected in the most recent guidelines published on OHS. Recent developments in defining OHS include proposed classification systems of severity and demonstrating the value of using serum bicarbonate to exclude OHS in patients with a low index of suspicion.Educational aimsTo provide an overview of the historical basis of the definition of obesity hypoventilation syndrome.To explain the rationale for the current definition of obesity hypoventilation syndrome.To demonstrate areas that need further investigation in defining obesity hypoventilation syndrome.
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23

Shah, Neeraj M., Sonia Shrimanker e Georgios Kaltsakas. "Defining obesity hypoventilation syndrome". Breathe 17, n.º 3 (setembro de 2021): 210089. http://dx.doi.org/10.1183/20734735.0089-2021.

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With increasing prevalence of obesity, the substantial contribution of obesity hypoventilation syndrome (OHS) to morbidity and mortality is likely to increase. It is therefore crucial that the condition has a clear definition to allow timely identification of patients. OHS was first described as “Pickwickian syndrome” in the 1950s; in subsequent decades, case reports did not clearly delineate between patients suffering from OHS and those suffering from obstructive sleep apnoea. In 1999, the American Academy of Sleep Medicine published a guideline that delineated the cause of daytime hypercapnia as either predominantly upper airway or predominantly hypoventilation. This was the first formal definition of OHS as the presence of daytime alveolar hypoventilation (arterial carbon dioxide tension >45 mmHg) in patients with body mass index >30 kg·m−2 in the absence of other causes of hypoventilation. This definition is reflected in the most recent guidelines published on OHS. Recent developments in defining OHS include proposed classification systems of severity and demonstrating the value of using serum bicarbonate to exclude OHS in patients with a low index of suspicion.Educational aimsTo provide an overview of the historical basis of the definition of obesity hypoventilation syndrome.To explain the rationale for the current definition of obesity hypoventilation syndrome.To demonstrate areas that need further investigation in defining obesity hypoventilation syndrome.
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24

Frolov, Artem V., Sargylana A. Ermolaeva e Igor A. Manichev. "Hypoventilation Yoga Exercises: Effects on Respiratory Metabolism". Bulletin of Rehabilitation Medicine 20, n.º 5 (31 de outubro de 2021): 73–80. http://dx.doi.org/10.38025/2078-1962-2021-20-5-73-80.

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Aim. Assessment of changes in respiratory metabolism and parameters of external respiration during hypoventilation yoga exercises. Material and methods. 22 experienced volunteers (18 men and 4 women, mean age 42.95 ± 8.14 years) performed yoga breathing exercises with a frequency of 3 times per minute, 1.5 times per minute, 1 time per minute, as well as free breathing for 2 minutes. Respiratory rate (RR), minute ventilation (MV), tidal volume (TV), partial pressure of CO2 in expired air at the end of exhalation (PetCO2), percentage of O2 in expired air (FeO2) and hemoglobin saturation (SpO2) were recorded. Results and discussion. The breathing regimen with RR = 3 times / min is hyperventilating, accompanied by a statistically significant increase in respiratory minute volume (RMV) and a decrease in PetCO2; hemoglobin saturation indices are not changed. Breathing with a frequency of 1.5 times/min is accompanied by a statistically significant decrease in RMV compared to the rest state, as well as an increase in PetCO2 and a decrease in FeO2, that is, it is hypoventilating, although there is a certain heterogeneity within this subgroup depending on the recruited tidal volume. Indicators of hemoglobin saturation with a given breathing mode do not change. The breathing regimen with RR = 1 time / min is accompanied by a statistically significant decrease in the RMV, an increase in PetCO2 and a decrease in FeO2; the average values of hemoglobin saturation do not change, but the minimum saturation values (observed once during each respiratory cycle) are statistically significantly lower than at the rest state. These results suggest that hypoventilating yoga exercises may have a positive effect on cerebral blood flow and cerebrovascular reactivity. Conclusion. Performing yoga breathing exercises at the respiration rate of 1.5 and 1 times per minute is accompanied by statistically significant hypoventilation, alveolar hypercapnia and hypoxia.
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25

Masa, Juan F., Jean-Louis Pépin, Jean-Christian Borel, Babak Mokhlesi, Patrick B. Murphy e Maria Ángeles Sánchez-Quiroga. "Obesity hypoventilation syndrome". European Respiratory Review 28, n.º 151 (14 de março de 2019): 180097. http://dx.doi.org/10.1183/16000617.0097-2018.

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Obesity hypoventilation syndrome (OHS) is defined as a combination of obesity (body mass index ≥30 kg·m−2), daytime hypercapnia (arterial carbon dioxide tension ≥45 mmHg) and sleep disordered breathing, after ruling out other disorders that may cause alveolar hypoventilation. OHS prevalence has been estimated to be ∼0.4% of the adult population. OHS is typically diagnosed during an episode of acute-on-chronic hypercapnic respiratory failure or when symptoms lead to pulmonary or sleep consultation in stable conditions. The diagnosis is firmly established after arterial blood gases and a sleep study. The presence of daytime hypercapnia is explained by several co-existing mechanisms such as obesity-related changes in the respiratory system, alterations in respiratory drive and breathing abnormalities during sleep. The most frequent comorbidities are metabolic and cardiovascular, mainly heart failure, coronary disease and pulmonary hypertension. Both continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) improve clinical symptoms, quality of life, gas exchange, and sleep disordered breathing. CPAP is considered the first-line treatment modality for OHS phenotype with concomitant severe obstructive sleep apnoea, whereas NIV is preferred in the minority of OHS patients with hypoventilation during sleep with no or milder forms of obstructive sleep apnoea (approximately <30% of OHS patients). Acute-on-chronic hypercapnic respiratory failure is habitually treated with NIV. Appropriate management of comorbidities including medications and rehabilitation programmes are key issues for improving prognosis.
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26

NUNES, MAGDA LAHORGUE, MAURÍCIO A. G. FRIENDRICH e LUIZ FERNANDO LOCH. "Association of misoprostol, moebius syndrome and congenital central alveolar hypoventilation: case report". Arquivos de Neuro-Psiquiatria 57, n.º 1 (março de 1999): 88–91. http://dx.doi.org/10.1590/s0004-282x1999000100017.

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We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.
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27

Dellborg, C., J. Olofson, B. Midgren, O. Caro, B.-E. Skoogh e M. Sullivan. "Quality of life in patients with chronic alveolar hypoventilation". European Respiratory Journal 19, n.º 1 (janeiro de 2002): 113–20. http://dx.doi.org/10.1183/09031936.02.00211902.

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28

Sforza, E., V. Colamaria e E. Lugaresi. "Neurofibromatosis associated with central alveolar hypoventilation syndrome during sleep". Acta Paediatrica 83, n.º 7 (julho de 1994): 794–96. http://dx.doi.org/10.1111/j.1651-2227.1994.tb13145.x.

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29

Schlenker, E. H., e J. A. Burbach. "The dystrophic hamster: an animal model of alveolar hypoventilation". Journal of Applied Physiology 71, n.º 5 (1 de novembro de 1991): 1655–62. http://dx.doi.org/10.1152/jappl.1991.71.5.1655.

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The BIO 14.6 dystrophic hamster (DH) is a genetically determined animal model of alveolar hypoventilation (AH) that exhibits a ventilatory control pattern of compensation and then decompensation similar to that in progressive forms of muscular dystrophy and nonprogressive congenital myopathies in humans. Possible causes of AH in the DH include respiratory muscle weakness, ventilation-to-perfusion inequalities, and an inadequate drive to breathe. Histochemical and contractile abnormalities of the diaphragm, reduced lung surface area available for gas exchange, abnormal pulmonary microvascular reactivity to hypoxia, altered levels of neurochemicals, and abnormal cellular regulation of calcium are among the specific factors that may contribute to the development of AH. The potential role of hypothyroidism in the development of AH is reviewed because many hypothyroid patients exhibit AH and other ventilatory dysfunctions, hypothyroidism is present in human patients and animals with muscular dystrophy, and thyroid status is known to influence lung architecture, myocyte function, and neural activity. Additional studies linking neurohormonal signals, transcellular signal processing, and control of ventilation in the DH may help us understand the etiology of AH in human disease.
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30

Diambomba, Yenge, Catherine Jobin e Bruno Piedboeuf. "Central Alveolar Hypoventilation in Congenital Hypothyroidism : A Case Report". Pediatric Research 45, n.º 4, Part 2 of 2 (abril de 1999): 301A. http://dx.doi.org/10.1203/00006450-199904020-01788.

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31

Heckmann, Josef G., e Stefan Ernst. "Central Alveolar Hypoventilation (Ondine's Curse) Caused by Megadolichobasilar Artery". Journal of Stroke and Cerebrovascular Diseases 23, n.º 2 (fevereiro de 2014): 390–92. http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2013.02.003.

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32

Ferrandière, Martine, Eric Hazouard, Jean Ayoub, Marc Laffon, John Gage, Colette Mercier e Jacques Fusciardi. "Non-invasive ventilation corrects alveolar hypoventilation during spinal anesthesia". Canadian Journal of Anesthesia/Journal canadien d'anesthésie 53, n.º 4 (abril de 2006): 404–8. http://dx.doi.org/10.1007/bf03022508.

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33

Takeda, Shin-ichi, Yoshitaka Fujii, Hisayoshi Kawahara, Kazuya Nakahara e Hikaru Matsuda. "Central Alveolar Hypoventilation Syndrome (Ondine's Curse) With Gastroesophageal Reflux". Chest 110, n.º 3 (setembro de 1996): 850–52. http://dx.doi.org/10.1378/chest.110.3.850.

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34

Olbrich, H., D. Zerbin, H. Wiesemann e G. Hullmann. "Auditory Brainstem Response (ABR) in Congenital Central Alveolar Hypoventilation". Neuropediatrics 18, n.º 01 (fevereiro de 1987): 51–53. http://dx.doi.org/10.1055/s-2008-1052436.

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35

Burwell, C. Sidney, Eugene D. Robin, Robert D. Whaley e Albert G. Bickelmann. "Extreme Obesity Associated with Alveolar Hypoventilation - A Pickwickian Syndrome*". Obesity Research 2, n.º 4 (julho de 1994): 390–97. http://dx.doi.org/10.1002/j.1550-8528.1994.tb00084.x.

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36

Karabasheva, M. B., N. M. Danilov, O. V. Sagaydak, D. I. Darensky, V. K. Lazutkina e I. E. Chazova. "Pulmonary hypertension in a patient with kyphoscoliotic heart disease". Siberian Medical Journal 34, n.º 3 (4 de novembro de 2019): 172–78. http://dx.doi.org/10.29001/2073-8552-2019-34-3-172-178.

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Kyphoscoliosis is a combined spinal deformation, which leads to a decrease in the volume of ‘working’ lung tissue with the development of alveolar hypoventilation and hypoxic vasoconstriction of the pulmonary arteries. These changes in a small percentage of cases lead to increases in pulmonary artery pressure and pulmonary vascular resistance. The pathogenesis of pulmonary hypertension in kyphoscoliosis shows resemblance to pulmonary hypertension in the setting of obstructive sleep apnea or hypoventilation in the presence of obesity. Patients with already present pulmonary hypertension may theoretically be candidates for standard pathogenetic therapy, but there is currently no evidence of the effectiveness of this treatment.
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37

Vanderlinden, R. Graham, Stanley W. Epstein, Robert H. Hyland, Harley S. Smythe e Loren D. Vanderlinden. "Management of Chronic Ventilatory Insufficiency with Electrical Diaphragm Pacing". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 15, n.º 1 (fevereiro de 1988): 63–67. http://dx.doi.org/10.1017/s0317167100027219.

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ABSTRACT:We have had experience with diaphragm pacing in 24 patients at the Toronto Western Hospital. Fourteen patients have undergone bilateral implants to treat chronic ventilatory insufficiency (CVI) caused by traumatic tetraplegia at the C1/2 level (eight patients), neurogenic apnea (five) and one case of neonatal apnea. Unilateral stimulators for nocturnal pacing have been implanted in five patients with central alveolar hypoventilation (sleep apnea) and five patients who suffered CVI resulting from various etiologies. Of the patients who were ventilatory dependent, 80% were successfully weaned and in the entire series, 58% of the patients are living. Diaphragm pacing was successful in 67%, partially successful in 8% and ineffective in 25%. The major complications were: death by pneumonia, failure of the radio receivers, and infection. Diaphragm pacing is the treatment of choice for patients who are ventilator dependent and tetraplegic from upper cervical trauma or in some cases of neurogenic apnea; it may be life saving for patients who suffer central alveolar hypoventilation.
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38

Pimenta, M., V. Saddi, G. Thambipillay, A. Teng, G. Blecher e B. Martin. "P091 Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series". SLEEP Advances 3, Supplement_1 (1 de outubro de 2022): A59. http://dx.doi.org/10.1093/sleepadvances/zpac029.161.

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Abstract Introduction Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes.The disorder results in ventilatory impairment characterized by alveolar hypoventilation which worsens in sleep and occurs in individuals with otherwise normal pulmonary mechanics.Diagnosis is based on identification of a pathologic variant in the PHOX2B gene in absence of primary pulmonary, cardiac or neuromuscular disease or a causative brainstem lesion. We present five cases from three generations within the same family with varying degrees of phenotypic expression of the PHOX2B gene mutation. Methods The identification of CCHS in the index case after birth prompted evaluation of other family members.Genetic testing and counselling were performed for all family members. All family members with a confirmed diagnosis of CCHS underwent a complete assessment. Discussion We report the unique occurrence of CCHS among five members of a single family in three generations with a varying degree of penetrance and expressivity resulting in diverse clinical manifestations.Early diagnosis and adequate ventilatory management can prevent associated neurologic morbidity and improve long-term outcomes. Providing positive pressure ventilation (PPV) in infants and children with CCHS poses many challenges.Consistency is important as patients with CCHS require lifelong assisted ventilation, at least during sleep, and weaning of ventilation is not advisable.These five cases not only highlight the challenges of managing CCHS, but also the importance of genetic counselling and screening among first-degree relatives and extended family members.
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39

Sivakumar, Keithan, Manveer Garcha, Dev Mehta, Megan C. Leary e Hussam A. Yacoub. "Central Hypoventilation: A Rare Complication of Wallenberg Syndrome". Case Reports in Neurological Medicine 2018 (2018): 1–3. http://dx.doi.org/10.1155/2018/4894820.

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Central alveolar hypoventilation disorders denote conditions resulting from underlying neurologic disorders affecting the sensors, the central controller, or the integration of those signals leading to insufficient ventilation and reduction in partial pressures of oxygen. We report a patient who presented with a left lateral medullary ischemic stroke after aneurysm repair who subsequently developed a rare complication of CAH. Increased awareness of this condition’s clinical manifestations is crucial to make an accurate diagnosis and understand its complications and prognosis.
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40

Ramar, Kannan. "Central Alveolar Hypoventilation and Failure to Wean from the Ventilator". Journal of Clinical Sleep Medicine 05, n.º 06 (15 de dezembro de 2009): 583–85. http://dx.doi.org/10.5664/jcsm.27663.

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41

de Jongste, J. C., E. J. Duiverman, H. J. Neijens e K. F. Kerrebijn. "Primary Alveolar Hypoventilation syndrome in a 10-year old girl". Pediatric Research 19, n.º 10 (outubro de 1985): 1101. http://dx.doi.org/10.1203/00006450-198510000-00192.

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42

DiMarco, Anthony F., Alfred F. Connors e Murray D. Altose. "Management of Chronic Alveolar Hypoventilation with Nasal Positive Pressure Breathing". Chest 92, n.º 5 (novembro de 1987): 952–54. http://dx.doi.org/10.1378/chest.92.5.952.

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43

FLAGEOLE, H., V. ADOLPH, G. DAVIS, J. LABERGE, L. NGUYEN e F. GUTTMAN. "Diaphragmatic pacing in children with congenital central alveolar hypoventilation syndrome+". Surgery 118, n.º 1 (julho de 1995): 25–28. http://dx.doi.org/10.1016/s0039-6060(05)80005-4.

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44

Ono, Seiitsu, Hiroshi Kurisaki, Akira Sakuma e Koichi Nagao. "Myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study". Journal of the Neurological Sciences 128, n.º 2 (fevereiro de 1995): 225–31. http://dx.doi.org/10.1016/0022-510x(94)00244-i.

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45

Antic, N., e R. D. McEvoy. "Primary alveolar hypoventilation and response to the respiratory stimulant almitrine". Internal Medicine Journal 32, n.º 12 (dezembro de 2002): 622–24. http://dx.doi.org/10.1046/j.1445-5994.2002.00284.x.

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46

Perren, Andreas, Manuel Fischler e Marco Maggiorini. "A case of central alveolar hypoventilation in medullary thyroid cancer". Swiss Medical Weekly 134, n.º 0708 (21 de fevereiro de 2004): 111. http://dx.doi.org/10.57187/smw.2004.10474.

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47

Tracy, Thomas F. "Diaphragmatic pacing in children with congenital central alveolar hypoventilation syndrome". Journal of Pediatric Surgery 31, n.º 1 (janeiro de 1996): 209. http://dx.doi.org/10.1016/s0022-3468(96)90358-9.

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48

Ng, Boon Hau, Hsueh Jing Low, Nik Nuratiqah Nik Abeed, Nor Safiqah Sharil, Rose Azzlinda Osman e Andrea Yu-Lin Ban. "Acquired Central Alveolar Hypoventilation as a Sequelae of Brainstem Tuberculoma". OALib 11, n.º 10 (2024): 1–6. http://dx.doi.org/10.4236/oalib.1112218.

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49

Saka, Dian Dina Sholihah, e Hermina Novida. "An Indonesian adult with obesity hypoventilation syndrome: a case report". Annals of Medicine & Surgery 85, n.º 5 (11 de abril de 2023): 2169–72. http://dx.doi.org/10.1097/ms9.0000000000000665.

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Introduction and importance: Obesity hypoventilation syndrome (OHS) is an often overlooked and limited case with other conditions that can cause hypoventilation. Case presentation: An Indonesian female, 22 years old, always feels sleepy, has difficulty concentrating and controlling her appetite. The patient had a fever, respiratory rate of 32 ×/min, pulse rate of 115 ×/min, apathy, obesity (BMI =46.6 kg/m2), and she used oxygen therapy with a non-rebreathing mask of 10 l/min (SO2 of 89%). The patients had daytime hypercapnia & alveolar hypoventilation without other causes of hypoventilation. She was likely to have a chronic condition with relatively stable symptoms that had fallen into a state of acute on chronic hypercapnic respiratory failure. The patient used mechanical ventilation and received supportive management. After 19 days of treatment, the patient’s condition improved, and it was recommended to lose weight gradually. In 1-week post hospitalization, the patient experienced a weight loss of 5 kg. Discussion: Mechanical ventilation, supportive management, and decreased body weight of 25–30% gradually have improved prognosis in OHS patients. Bariatric surgery is carried out when the patient cannot lose weight with diet and exercise. Conclusion: OHS management includes oxygen therapy and gradually decreased body weight.
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Khan, Momina, Murtaza Ali Gowa, Ghazala Jamal, Hira Nawaz e Syed Muhammad Aqeel Abidi. "Idiopathic pulmonary haemosiderosis: an unusual case of anaemia with pulmonary involvement". Journal of the Pakistan Medical Association 73, n.º 8 (15 de julho de 2023): 1729–31. http://dx.doi.org/10.47391/jpma.7323.

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Idiopathic pulmonary haemosiderosis is a rare disorder, with recurrent life-threatening alveolar haemorrhages and chronic lung parenchymal changes. It is associated with a triad of haemoptysis, iron deficiency anaemia, and diffuse pulmonary infiltrates. Although most cases are idiopathic, secondary haemosiderosis linked to known diseases has also been observed. Most of the cases remain undiagnosed because the disease is very low on the list of differentials. There is no specified age for the disease. The present study reports on an adolescent female patient who presented with microcytic anaemia and bilateral lung infiltrates to the National Institute of Child Health (NICH), Karachi, a tertiary care hospital. She was diagnosed with Idiopathic pulmonary haemosiderosis after ruling out other possibilities. Keywords: Pulmonary haemosiderosis, Alveolar haemorrhages, Lung disease, Alveolar hypoventilation syndrome.
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