Results 51 to 60 of about 321,023 (289)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Melanocytic neuroectodermal tumor of infancy: A plethora of airway nightmares!

Journal of Anaesthesiology Clinical Pharmacology
Melanocytic neuroectodermal tumor of infancy (MNTI) is a rare, benign neoplasm involving the jaw. It is characterized by a high rate of recurrence and locally aggressive enlargement. This condition often leads to facial asymmetry and difficulty in airway
K Anjaleekrishna, Dalim Kumar Baidya, Heena Garg, Ajoy Roy Choudhury   +3 more
doaj   +1 more source

Comparison of Actual Body Weight, Ideal Body Weight and Age for Selection of Appropriate I-gel Size in Paediatric Patients: A Randomised Controlled Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Manufacturer’s guidelines for I-gel advocate size selection of the device based on patient’s Actual Body Weight (ABW). However, this may not be suitable for children because of the wide range of weight for each device and the variation in ...
Vandna Arora, Gayatri Kumra, Preeti Gehlaut, Sanjay Johar, Nancy Rathee, Jessica Sinhmar   +5 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Paediatric Airway Reconstruction: A Preliminary Study [PDF]

, 2008
To set the foundation for developing a centre for airway reconstruction, we performed a retrospective database review of patients operated at a tertiary-care university hospital.
ZAINAB BINTI AWANG NGAH
core   +1 more source

Endotracheal Tube: A Shield yet Not a Safeguard during Paediatric Upper Gastrointestinal Endoscopy

Airway
This case report discusses a 1-year-old child with extrahepatic portal vein obstruction who underwent oesophagoduodenoscopy (OGD) for upper gastrointestinal bleeding under general anaesthesia.
Aditi Awasthi, Sekar Loganathan, Satyen Parida, Srinivasan Ramachandran   +3 more
doaj   +1 more source

Paediatrics: how to manage obstructive sleep apnoea syndrome

Drugs in Context, 2021
Obstructive sleep apnoea syndrome (OSAS) is defined as the intermittent reduction or cessation of airflow due to partial or complete obstruction of the upper airway during sleep.
Theresa NH Leung, James WCH Cheng, Anthony KC Chan   +2 more
doaj   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Fiberoptic Intubation Using LMATM as A Conduit and Cook® Airway Catheter as An Exchanger in A Case of Tessier 7 Facial Cleft Syndrome

Indian Journal of Anaesthesia, 2009
Any anaesthesiologist handling a paediatric airway must have a detailed understanding of the differences in airway anatomy, signs and symptoms of airway compromise and common paediatric airway abnormalities.
D Dasgupta, Anand Jain, Vaibhavi Baxi, A Parab, A Budhakar   +4 more
doaj  

Relationship between Helicobacter pylori Adenotonsillar Colonization and Frequency of Adenotonsillitis in Children

Balkan Medical Journal, 2013
Background: There are insufficient data in the literature on the presence of Helicobacter pylori in tonsil and adenoid tissue of patients with only airway obstruction. This study examined the presence of H.
Oğuz Güçlü, Kazım Tekin, Ozan Barutçu, Fevzi Sefa Dereköy, Alper Akçalı, Müşerref Tatman Otkun, Erkan Melih Şahin   +6 more
doaj   +1 more source