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Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.
BMC Oral Health
May 2024
School of Dentistry, The University of Jordan, As-Salt, Jordan.
Background: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique challenge for oral healthcare professionals because of the associated comorbidities.
Case Report: Here we describe a new case of PTHS in a 13-year-old girl with particular emphasis on oro-dental findings and oral healthcare management.
Difficult airway management in a patient with a thin mandible.
J Dent Anesth Pain Med
December 2016
Department of Dental Anesthesia and Pain Medicine, Pusan National University Dental Hospital, Dental Research Institute, Yangsan, Korea.
A 47-year-old woman was referred for surgical treatment of osteomyelitis of the mandible. She had already undergone three previous surgeries. Pre-anesthetic airway evaluation predicted a difficult airway, due to the thin, retro-positioned mandible, tongue, and atrophic changes in the lips and soft tissue.
View Article and Find Full Text PDFAnaesthetic Management of a Patient with Brugada Syndrome.
Turk J Anaesthesiol Reanim
April 2016
Clinic of Anaesthesiology, Bozyaka Training and Research Hospital, İzmir, Turkey.
Brugada Syndrome is a condition with an undetermined aetiology and a tendency for malignant arrhythmias, an electrocardiographic pattern of a right bundle branch block with persistent ST segment elevation in the right precordial leads (V1-V3) and no association with structural heart disease. We aimed to discuss the anaesthetic management of an asymptomatic 35-year-old patient with Brugada syndrome who had been diagnosed during the pre-anaesthetic assessment because of the family history of the early sudden cardiac death of his mother. As a result, we believe that detailed patient history and careful examination of laboratory tests and electrocardiography are crucial for early diagnosis of some diseases and for successful anaesthetic management.
View Article and Find Full Text PDFCareful pre-anesthetic evaluation leading to a successful anesthetic management of an undiagnosed Duchenne muscular dystrophy child.
Hippokratia
January 2015
Department of Anaesthesiology, Democritus University of Thrace, University General Hospital of Alexandroupolis, Greece.
Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection.
Saudi J Anaesth
October 2013
Department of Anesthesiology, PGIMER, Chandigarh, India.
Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation. We describe the anesthetic management of a patient with Marfan syndrome with severe aortic root dilation, who required major surgery like cholecystectomy with partial liver resection under general anesthesia. A 47-year-old female presented to pre-anesthetic clinic for cholecystectomy with partial hepatic resection for gall bladder carcinoma.
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