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Journal articles on the topic 'Collins Report'

Author: Grafiati

Published: 4 June 2021

Last updated: 11 February 2022

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1

Morshed, Tarannum, Fonindro Nath Paul, R. N. Sarker, Shahara Haque, and Sadia Sultana. "Treacher Collins Syndrome : A Case Report." Chattagram Maa-O-Shishu Hospital Medical College Journal 13, no. 2 (December 1, 2014): 70–74. http://dx.doi.org/10.3329/cmoshmcj.v13i2.21074.

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Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after Edward Treacher Collins (1862-1932), the English surgeon and ophthalmologist, who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), Conducting hearing loss, under developed zygoma, drooping part of lateral lower eyelids, and malformed or absent ears. This article describes clinical and radiological features of TCS in a 07 yr old female child who had reported to the department of Dentistry and Radiology with the complaint of forwardly placed upper anterior teeth and hearing loss. Also pathogenesis, prenatal diagnosis, differential diagnosis, management and preventive aspects are discussed.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i2.21074

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2

Thoppil, Jacob Anton, Manish Kumar Tailor, Yogesh Aseri, Digvijay Singh Rawat, Singh B. K, and Verma P. C. "TREACHER COLLINS SYNDROME: A CASE REPORT." Journal of Evidence Based Medicine and Healthcare 3, no. 86 (October 27, 2016): 4719–22. http://dx.doi.org/10.18410/jebmh/2016/994.

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3

Pattanshetty, Smita, Vijayalakshmi S. Kotrashetti, Ramakant Nayak, and Jagadish Hosmani. "Treacher Collins syndrome - A case report." Journal of Medicine, Radiology, Pathology and Surgery 5, no. 3 (2018): 15–17. http://dx.doi.org/10.15713/ins.jmrps.131.

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4

Saoud, Aïda, Basma Taïbi, Aymane El Farouki, Latifa Chat, Siham El Haddad, and Nazik Allali. "Treacher Collins syndrome: A case report." International Journal of Case Reports and Images 11 (2020): 1. http://dx.doi.org/10.5348/101180z01as2020cr.

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5

Mohan, R. P. S., S. Verma, N. Agarwal, and U. Singh. "Treacher Collins syndrome: a case report." Case Reports 2013, may24 1 (May 24, 2013): bcr2013009341. http://dx.doi.org/10.1136/bcr-2013-009341.

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6

Hasegawa, Kensaku, Taizo Taguchi, Makiko Tanaka, Aya Nosaka, Takema Sakoda, and Hiroya Kitano. "A Case Report of Treacher Collins Syndrome." Practica Oto-Rhino-Laryngologica 98, no. 10 (2005): 763–68. http://dx.doi.org/10.5631/jibirin.98.763.

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7

Sarkar, Phani Kumar, Pradip Sarkar, Umakanta Acharjee, Montu Chakma, and Chiranjit Noatia. "TREACHER COLLINS SYNDROME: A RARE CASE REPORT." Journal of Evolution of Medical and Dental Sciences 3, no. 9 (February 25, 2014): 2131–34. http://dx.doi.org/10.14260/jemds/2014/2115.

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8

Sumbh, ShwetaGangotri, Jaishree Pagare, and Bharat Sumbh. "Treacher collins syndrome - Report of a classical case." Journal of Cleft Lip Palate and Craniofacial Anomalies 4, no. 1 (2017): 69. http://dx.doi.org/10.4103/2348-2125.205412.

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9

Dubey, AK, and RK Gupta. "Treacher Collins Syndrome : A Report on Two Cases." Medical Journal Armed Forces India 58, no. 3 (July 2002): 267–68. http://dx.doi.org/10.1016/s0377-1237(02)80148-4.

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10

De Amorim Lisboa Neto, José, Maria Eduarda Camelo Calado, Williamina Oliveira Dias Pinto, and João Augusto Vianna Goulart-Filho. "Familial Treacher Collins Syndrome: Report of 3 Cases." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 126, no. 3 (September 2018): e111. http://dx.doi.org/10.1016/j.oooo.2018.02.392.

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11

Katsuno, Masahiro, Kazuo Matsui, Hideki Takemura, Dai Nagase, and Tetsuaki Kubota. "Treacher Collins Syndrome with Conductive Deafness; Two Case Report." Practica oto-rhino-laryngologica. Suppl. 2002, Supplement109 (2002): 29–35. http://dx.doi.org/10.5631/jibirinsuppl1986.2002.supplement109_29.

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12

Ravichandra Sekhar, Kotha. "TREACHER COLLINS SYNDROME: CASE REPORT AND REVIEW OF LITERATURE." Annals and essences of dentistry 2, no. 4 (September 14, 2010): 41–44. http://dx.doi.org/10.5368/aedj.2010.2.4.41-44.pdf.

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13

Chowdhury, Md Shahnewaz, Md Mohsinuzzaman Chowdhury, and Gulshan Ara Chowdhury. "Anaesthetic management of a case of Treacher - Collins syndrome." Journal of the Bangladesh Society of Anaesthesiologists 23, no. 2 (March 2, 2014): 72–75. http://dx.doi.org/10.3329/jbsa.v23i2.18178.

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Treacher-Collins syndrome (TCS) is a rare congenital disease known to be associated with a difficult airway and represents some of the most hazardous and difficult challenges that anaesthetists may encounter during their entire practice of anesthesia. Successful anaesthetic management of a case with Treacher-Collins syndrome posted for laparoscopic cholecystectomy under general anaesthesia is presented in this report. DOI: http://dx.doi.org/10.3329/jbsa.v23i2.18178 Journal of BSA, 2009; 23(2): 72-75

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14

Ulusal, S., H. Gürkan, Ü. Vatansever, K. Kürkçü, H. Tozkir, and Ba Acunaş. "A CASE OF TREACHER COLLINS SYNDROME." Balkan Journal of Medical Genetics 16, no. 2 (December 1, 2013): 77–80. http://dx.doi.org/10.2478/bjmg-2013-0036.

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ABSTRACT Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation

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15

Standring, Susan, and Michael Larvin. "Anatomy teaching: the cruellest cut – a progress report." Bulletin of the Royal College of Surgeons of England 93, no. 1 (January 1, 2011): 16–18. http://dx.doi.org/10.1308/003588411x546456.

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A high-level round-table discussion, jointly sponsored by the College and the Anatomical Society and chaired by Richard Collins, College Vice-president, was held at the College in October 2010. The main purpose of the meeting was to determine what progress if any had been made in achieving the outcomes of Anatomy teaching – the cruellest cut of all, a conference held at the College in 2007.

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16

Kumar, Tarun, Neha Arora, AjaypalSingh Kataria, and Dheeraj Sharma. "Treacher Collins syndrome: A case report and review of literature." SRM Journal of Research in Dental Sciences 7, no. 2 (2016): 128. http://dx.doi.org/10.4103/0976-433x.182659.

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17

Kumar, Tarun, Gagan Puri, Aravinda Konidena, and Neha Arora. "Treacher Collins syndrome: A case report and review of literature." Journal of Indian Academy of Oral Medicine and Radiology 27, no. 3 (2015): 488. http://dx.doi.org/10.4103/0972-1363.170476.

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18

Almis, Habip, and Cengiz Yakinci. "Treacher Collins Syndrome and Three Dimension Computerized Tomography: Case Report." Journal of Turgut Ozal Medical Center 19, no. 4 (December 15, 2012): 286–88. http://dx.doi.org/10.7247/jtomc.19.4.16.

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19

Kocabalkan, Oya, Gürsel Leblebicioĝlu, Yücel Erk, and Ayhan Enacar. "Repeated mandibular lengthening in Treacher Collins syndrome: a case report." International Journal of Oral and Maxillofacial Surgery 24, no. 6 (December 1995): 406–8. http://dx.doi.org/10.1016/s0901-5027(05)80468-0.

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20

Dunn, P. M. "Dr. Robert Collins (1801-1868) and his Rotunda obstetric report." Archives of Disease in Childhood - Fetal and Neonatal Edition 71, no. 1 (July 1994): F67—F68. http://dx.doi.org/10.1136/fn.71.1.f67.

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21

Hazrati, Ezatollah. "Repeated mandibular lengthening in Treacher Collins syndrome: A case report." Plastic & Reconstructive Surgery 99, no. 7 (June 1997): 2124. http://dx.doi.org/10.1097/00006534-199706000-00088.

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22

Nandeibam, Premita Devi, Abhinav Kumar, Parag Narayana Kisave, Shalini Yurembam, and Bharati Lisam. "A Case Report of Treacher Collins Syndrome; an Unusual Case." International Journal of Medical Science 5, no. 6 (June 25, 2018): 22–26. http://dx.doi.org/10.14445/23939117/ijms-v5i6p105.

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23

Collins, Rhonda. "COVID-19: Nurses have responded, now it is time to support them as we move forward." Healthcare Management Forum 33, no. 5 (August 20, 2020): 190–94. http://dx.doi.org/10.1177/0840470420953297.

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The inspiration for The American Nurse Project, Dr. Rhonda Collins, DNP, RN, FAAN, is Chief Nursing Officer for Vocera Communications. Every year around Nurses Week, Dr. Collins publishes a report examining important issues that impact the nursing profession worldwide. Her 2020 CNO report looks at many of the challenges impacting nurses before, during, and after COVID-19—highlighting the mental anguish and physical burdens that COVID-19 has placed on nurses and other frontline healthcare workers as they put themselves in harm’s way to protect others. Dr. Collins examines the foundation of cognitive science and outlines a three-point strategy to guide hospital and nurse leaders moving forward as they strive to support staff members: lightening clinicians’ cognitive load by addressing the difference between documentation and communication, relieving the burden of adapting to multiple systems by giving clinicians control over how they communicate, and providing clinicians with clear, contextual, just-in-time information—using software to enhance workflow, not distract from it. During these unprecedented times, health leaders can honour nurses by providing them with the tools to help strengthen resiliency and healing from this crisis.

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24

Saini, Chesta, Kishore Rajurkar, and Rizul Saini. "Familial treacher collins syndrome- from an obstetrician’s view." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 10, no. 3 (February 24, 2021): 1185. http://dx.doi.org/10.18203/2320-1770.ijrcog20210757.

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A number of genetic syndromes have been identified and can be diagnosed antenatally using ultrasonography signifying the importance of antenatal care. We report a rare case of familial treacher collins syndrome diagnosed postnatally that shows difficulties faced by an obstetrician to safely manage such cases.

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25

GARZIA, ISABELLA. "FRAGMENTATION FUNCTIONS AT BABAR." International Journal of Modern Physics: Conference Series 25 (January 2014): 1460044. http://dx.doi.org/10.1142/s2010194514600441.

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Inclusive hadron production cross section in e+e- annihilation shed light on fundamental questions of hadronization and fragmentation processes. We present measurements of inclusive spectra of charged pions, kaons, and protons (antiprotons) produced in e+e- collisions at the center-of-mass energy of 10.54 GeV, and tests of QCD predictions and hadronization models. We also report the results on the measurement of the azimuthal modulation induced by the Collins effect in inclusive production of charged pion pairs e+e- → ππX, where the two pions are produced in opposite hemispheres. These data allows the determination of the polarized Collins fragmentation functions.

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26

Adkins, J. Kevin, and James L. Drachenberg. "Azimuthal Single-Spin Asymmetries of Charged Pions in Jets in s = 200 GeV p↑p Collisions at STAR." International Journal of Modern Physics: Conference Series 40 (January 2016): 1660040. http://dx.doi.org/10.1142/s2010194516600405.

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Single spin asymmetry measurements ([Formula: see text]) of the azimuthal distribution of charged pions inside jets produced in transversely polarized proton collisions are sensitive to the transversity distribution and the Collins fragmentation function. The STAR Detector at the Relativistic Heavy Ion Collider is well suited for these types of measurements as it is capable of full jet reconstruction and charged pion identification in the mid-rapidity region ([Formula: see text][Formula: see text][Formula: see text][Formula: see text]). We report here the first observation of Collins [Formula: see text] asymmetries in [Formula: see text] GeV [Formula: see text] collisions.

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27

Sharma, Reena, Brahmadeo Sharma, Meenu Babber, Sonali Singh, and Gunjan Jain. "Treacher Collins syndrome: A case report and review of ophthalmic features." Taiwan Journal of Ophthalmology 6, no. 4 (December 2016): 206–9. http://dx.doi.org/10.1016/j.tjo.2016.07.002.

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28

Choi, Yoon Seok, Young Ha Lee, and Yong-Dae Kim. "Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report." Ear, Nose & Throat Journal 98, no. 10 (April 8, 2019): 625–26. http://dx.doi.org/10.1177/0145561319840545.

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29

Renju, Raj, BalagopalR Varma, SureshJ Kumar, and Parvathy Kumaran. "Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature." Contemporary Clinical Dentistry 5, no. 4 (2014): 532. http://dx.doi.org/10.4103/0976-237x.142826.

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30

H.D, Dr Rashmi, Dr Manjula R, Dr Meera Balasubramanyam, and Dr Varsha Dr Aditi. "Airway management in a case of Treacher Collins Syndrome-A case report." IOSR Journal of Dental and Medical Sciences 13, no. 9 (2014): 55–58. http://dx.doi.org/10.9790/0853-13965558.

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31

Magalhães, Marina H. C. G., Cristiane Barbosa da Silveira, Carla Ruffeil Moreira, and Marcelo Gusmão Paraíso Cavalcanti. "Clinical and imaging correlations of Treacher Collins syndrome: Report of two cases." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 103, no. 6 (June 2007): 836–42. http://dx.doi.org/10.1016/j.tripleo.2006.04.011.

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32

Alva, Priyadharshini, Shishir Ram Shetty, Subhas Babu G, and Anaya Madiyal. "Treacher Collins syndrome - a report of two cases with review of literature." El Mednifico Journal 2, no. 4 (January 6, 2015): 428. http://dx.doi.org/10.18035/emj.v2i4.208.

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33

Marques-Pires, R., and H. Trindade. "The airway approach to a neonate with Treacher Collins syndrome – Case report." Revista Española de Anestesiología y Reanimación 64, no. 4 (April 2017): 233–36. http://dx.doi.org/10.1016/j.redar.2016.10.003.

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34

Kim, Young Ju, Hyo Seok Kang, Dong Ho Park, Han-Young Kim, and Taehyeng Jung. "Airway management in a patient with Treacher Collins syndrome - A case report -." Korean Journal of Anesthesiology 57, no. 5 (2009): 637. http://dx.doi.org/10.4097/kjae.2009.57.5.637.

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35

de Oliveira Lira Ortega, Adriana, Liete Maria Liarte Figueiredo Zwir, Ana Lídia Ciamponi, Antônio Sérgio Guimarães, and Luis Garcia Alonso. "Radiological Findings and Dynamic Aspects of Stomatognathic Structures in Treacher Collins Syndrome: Clinical Case Report." Cleft Palate-Craniofacial Journal 44, no. 6 (November 2007): 678–82. http://dx.doi.org/10.1597/06-116.1.

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Treacher Collins syndrome usually affects bilateral and symmetric structures that include the orbits, mandible, and ears. The purpose of this report is to describe a clinical case of the syndrome, focusing on the anatomy of the temporomandibular joint, which was assessed using the computed tomography method. Clinical examination included evaluation of mandibular dynamics, investigation of temporomandibular dysfunction, and measurement of bite force. Significant morphological and functional alterations were observed but without significant documented clinical consequences.

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36

Smith, Francis, Peter Fowler, and Pamela Ellis. "Long-term treatment outcomes from a patient’s perspective with Treacher Collins syndrome." BMJ Case Reports 14, no. 5 (May 2021): e241351. http://dx.doi.org/10.1136/bcr-2020-241351.

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The management of patients with Treacher Collins Syndrome (TCS) is complex and involves many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients, MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of TCS, the management of these patients and provides a unique perspective from one of the coauthors who has TCS and reports on his treatment experiences and long-term treatment outcomes. By having a better understanding of the impact of TCS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies in particular an increased awareness of the psychosocial challenges they endure.

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37

Shetty, Sowmya B., and Raghavendra Pidamale. "Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids." International Journal of Clinical Pediatric Dentistry 4, no. 3 (2011): 235–39. http://dx.doi.org/10.5005/jp-journals-10005-1116.

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38

Beygo, J., K. Buiting, S. Seland, H. J. Lüdecke, U. Hehr, C. Lich, B. Prager, D. R. Lohmann, and D. Wieczorek. "First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome." Molecular Syndromology 2, no. 2 (2011): 53–59. http://dx.doi.org/10.1159/000335545.

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39

Hirata, Eunice Sizue, Rosa Inês Costa Pereira, Gentil Alves Filho, and Angélica de Fátima Assunção Braga. "Hyperkalemia by Euro-Collins Solution in Anesthesia for Renal Transplantation: A Case Report." Brazilian Journal of Anesthesiology (English Edition) 63, no. 5 (September 2013): 429–32. http://dx.doi.org/10.1016/j.bjane.2013.10.001.

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40

Rasch, Deborah K., Frederick Browder, Marjory Barr, and Donald Greer. "Anaesthesia for Treacher Collins and Pierre Robin syndromes: A report of three cases." Canadian Anaesthetists’ Society Journal 33, no. 3 (May 1986): 364–70. http://dx.doi.org/10.1007/bf03010751.

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41

Oya, Soichi, Takamitsu Fujimaki, Akio Asai, and Takaaki Kirino. "Recurrence of Infantile Supratentorial Ependymoma after 23-Year Remission following Surgical Removal and Radiation Therapy." Tumori Journal 87, no. 2 (March 2001): 104–8. http://dx.doi.org/10.1177/030089160108700208.

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We report on a patient with ependymoma who had a recurrence after long-term remission. The patient developed frontoparietal ependymoma at the age of one year and ten months. The tumor was radically removed and postoperative radiation therapy was performed. A calcified area adjacent to the area of surgical removal remained unchanged until the patient was 18 years old. The patient was healthy except for mild hemiparesis until an MRI scan performed when he was 25 years old showed regrowth of the tumor. The patient underwent surgery with additional radiation therapy and was discharged. The 23-year interval until tumor recurrence in this case is far beyond the so-called risk period of “Collins’ law”. Immunohistochemical study with MIB-1 and anti-p53 antibody showed a high proliferative potential of the primary and recurrent tumors and possible p53 mutation in the primary tumor. This is the first report to describe the detailed clinical course and histological features of a recurrent infantile ependymoma that progressed after Collins’ risk period. It seems that follow-up of ependymoma patients after initial treatment should be performed regularly for a longer period in cases showing radiological evidence of a residual lesion.

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42

Cosme, R., and S. Dharmapuri. "Reconceptualilzing agitation in autism as primary affective dysregulation: Case report and literature review of use of quetiapine in a patient with Treacher–Collins syndrome and autism." European Psychiatry 41, S1 (April 2017): S434. http://dx.doi.org/10.1016/j.eurpsy.2017.01.422.

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This case report describes the successful use of low dose quetiapine in the treatment of agitation in a patient with Treacher–Collins syndrome (TCS) and suspected autistic spectrum disorder (ASD). Results from this case report found better efficacy in controlling symptoms of agitation in ASD utilizing lower doses of quetiapine. TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature. There are reports of mandibulofacial dysostosis associated with co-morbid developmental delay that are similar but distinct from TCS, however these reports do not comment on the treatment of agitation in this patient population. The results described in this case report demonstrate a reduction of agitation with low dose quetiapine, and offers support for the reconceptualization of agitation in ASD as a primary affective dysregulation which is also in line with evidence from the extant literature regarding the neurobiologic basis of aggression.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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43

Rai, Shalu, Kuber Tyagi, Deepankar Misra, Mansi Khatri, and Prerna Jain. "Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report." MAMC Journal of Medical Sciences 4, no. 2 (2018): 96. http://dx.doi.org/10.4103/mamcjms.mamcjms_59_17.

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44

Andrade, Eduardo C., Vanier S. Júnior, Ana L. S. Didoni, Priscila Z. Freitas, Araken F. Carneiro, and Fabiana R. Yoshimoto. "Treacher Collins syndrome with choanal atresia: a case report and review of disease features." Brazilian Journal of Otorhinolaryngology 71, no. 1 (January 2005): 107–10. http://dx.doi.org/10.1016/s1808-8694(15)31296-9.

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45

Delmondes, Erikson De Luna, Lucas Tavares Cruz de Albuquerque, and Lilianny Medeiros Pereira. "NEUROREHABILITATION WITH PADOVAN METHOD IN A NEWBORN WITH TREACHER COLLINS SYNDROME: A CASE REPORT." Amadeus International Multidisciplinary Journal 3, no. 5 (November 5, 2018): 1–7. http://dx.doi.org/10.14295/aimj.v3i5.41.

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Treacher Collins Syndrome (TCS) is an autosomal dominant disorder that leads to congenital craniofacial malformation, and may then be assisted by the Padovan Method® for neurological rehabilitation. That being said, the aim of this article is to report the functional improvements obtained by a patient with TCS who underwent the Padovan Method®. The child was born on november 26th of 2014, cesarean delivery, 37 weeks, Apgar 9/10, weighted 3625g, PC = 35cm, C = 49CM, presenting mild respiratory discomfort, absence of suction and the presence of syndromic facies, which is characteristic of TCS with retrognathism, oblique palpebral cleft downward divergent strabismus on left, pointed ears with cleft lobes, narrow auditory canal, malar hypoplasia and narrow palate. Padovan therapy was initiated at the 6th day of life, from orofacial, vestibular, ocular and motor exercises that seek to recapitulate the neuroevolutionary phases of human development with the purpose of propitiating a motor and neurological maturation of the central nervous system (CNS) and the correction of its possible failures. The child presented suction on the second day of therapy and on the fifth day was discharged from the hospital with good suction to the breast. The patient was followed up on an outpatient office and was given physiotherapy and speech therapy. The patient no longer received the Padovan Method® because at that time it was not available outside the hospital. Upon returning to childcare at age of 3, a good motor coordination performance was noticed, also speaking few loose words, but with good interaction and understanding. Therefore, due to the lack of standard behavior in neonatal neurological rehabilitation, considering the concepts of neuroplasticity andknowing the importance of early intervention, the Padovan Method® is shown as an alternative in the CNS reorganization in patients with TCS.

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46

Martirosyan, Nikolay L., Daniel D. Cavalcanti, M. Yashar S. Kalani, Peter H. Maughan, and Nicholas Theodore. "Aplasia of the Anterior Arch of Atlas Associated With Multiple Congenital Disorders: Case Report." Neurosurgery 69, no. 6 (June 24, 2011): E1317—E1320. http://dx.doi.org/10.1227/neu.0b013e31822a9ab1.

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Abstract BACKGROUND AND IMPORTANCE Congenital clefts and aplasias of the atlas vertebra are rare. A nonfused posterior arch occurs in 4% of the population; in contrast, a nonfused anterior arch occurs in only 0.1%. To the best of our knowledge, this is the first description of the combination of anterior arch aplasia and a cleft of the posterior arch of the atlas associated with Klippel-Feil and Treacher-Collins syndromes and Sprengel deformity. CLINICAL PRESENTATION An 11-year-old girl presented with neck pain and symptoms of myelopathy, including upper- and lower-extremity paresthesia. Computed tomography revealed significant congenital bony anomalies of the cervical spine, with congenital fusion of C2 through C5. There was aplasia of the anterior ring of C1 (A 2.3-cm gap was present within the anterior aspect of the lateral masses). The posterior elements of C3 and C4 were fused, and signs of Sprengel deformity were present. Magnetic resonance imaging revealed effacement of the ventral cerebrospinal fluid space at the craniocervical junction and mild mass effect at the cervicomedullary junction. Flexion and extension views showed abnormal motion at the craniocervical junction. There was no evidence of atlantoaxial instability, basilar invagination, or Chiari malformation. Occipito-C4-scapular fusion was performed to prevent spinal cord injury and further neurological symptoms. Postoperatively, the patient did extremely well, and her preoperative symptoms resolved. CONCLUSION We describe a rare case of aplasia of the anterior arch of the atlas and posterior arch midline cleft in association with Treacher-Collins syndrome, Klippel-Feil syndrome, and Sprengel deformity. The patient's atlantoaxial instability was managed surgically with a unique construct that provided occipito-C4-scapular fusion.

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Taharabaru, Saori, Takehito Sato, and Kimitoshi Nishiwaki. "Difficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening." Anesthesia Progress 68, no. 1 (March 1, 2021): 47–49. http://dx.doi.org/10.2344/anpr-67-04-05.

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Nicolaides-Baraitser syndrome (NCBRS) is a rare congenital genetic disorder characterized by distinctive facial features similar to Treacher Collins syndrome (TCS). We report the first case of successful nasal fiberoptic intubation in a patient with NCBRS with micrognathia and limited mouth opening due to trismus. A 9-year-old girl with NCBRS and dental caries was scheduled to undergo general anesthesia for a dental extraction. Initial attempts at oral intubation using a video laryngoscope were unsuccessful. However, subsequent attempts at nasal intubation using a flexible fiberoptic scope were successful. This report highlights that patients with NCBRS may present with difficult airways to manage and intubate.

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Shmeleva, Elizaveta A., and Ivan A. Arkharov. "Selection of the optimal air liquefaction cycle for liquid air energy storage." MATEC Web of Conferences 324 (2020): 01007. http://dx.doi.org/10.1051/matecconf/202032401007.

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The report analyzes and selects the liquefaction cycle for Liquid Air Energy Storage. The specific liquefaction coefficient and the coefficient of thermodynamic perfection were calculated for the following cycles: the Linde-Hampson cycle, the Claude cycle, the Heylandt Cycle, the Collins cycle, and the cycle with two expanders. The criterion for optimizing cycles is the maximum value of the liquefaction coefficient. The Claude cycle was chosen as the optimal cycle for use in the Liquid Air Energy Storage. Its exergy efficiency was calculated.

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Madiyal, Ananya, SubhasG Babu, Supriya Bhat, Medhini Madi, and Jasmine Kamath. "Diagnosis and treatment of Treacher Collins syndrome: Report of a rare case with literature review." SRM Journal of Research in Dental Sciences 8, no. 4 (2017): 179. http://dx.doi.org/10.4103/srmjrds.srmjrds_37_17.

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Hwang, Do-Won, Kang-Jae Jung, Seung-Yeon Kim, and Jae-Hyung Kim. "Usefulness of Videofluoroscopic Swallow Study in Treacher Collins Syndrome With Cleft Palate: A Case Report." Annals of Rehabilitation Medicine 38, no. 5 (2014): 707. http://dx.doi.org/10.5535/arm.2014.38.5.707.

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