Results 231 to 240 of about 111,118 (342)

Am J Med Genet A

Background:Choanal atresia and stenosis are common causes of congenital nasal obstruction, but their epidemiology is poorly understood. Compared to bilateral choanal atresia/stenosis, unilateral choanal atresia/stenosis is generally diagnosed later and ...

core  

Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and rapid clinical improvement.
Julien Neveu, Mathilde Butori, Anne Spraul, Charlotte Hinault‐Boyer, Mourad Naïmi   +4 more
wiley   +1 more source

Congenital microtia-atresia in Iran: a case report. [PDF]

J Med Case Rep
Shiravani M, Alipour M, Mortajez AR, Naeimi S.   +3 more
europepmc   +1 more source

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy, A. Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy   +5 more
wiley   +1 more source

Congenital Type III Lip Sinus with Palatine Bone Cleft. [PDF]

J Indian Assoc Pediatr Surg
Kumari R, Gautam G, Singh P, Priyadarshi M, Chaurasia S, Verma PK, Basu S.   +6 more
europepmc   +1 more source

Non‐invasive biomarkers in biliary atresia: A scoping review of fibrosis assessment, translational readiness and clinical implementation gaps

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Biomarkers are positioned by their highest developmental stage. Most biomarkers remain in exploratory phases, with serum MMP‐7 and elastography showing the greatest translational maturity. This highlights the primary challenge is the transition from biomarker discovery to clinical implementation.
Elizabeth Brits, Stephen Brown, Lezelle Botes, Michael Pienaar   +3 more
wiley   +1 more source

Living Donor Liver Transplantation in Pediatric Situs Inversus: A Case Series and Systematic Review. [PDF]

Pediatr Transplant
Fernandez MF, Ali N, Rumbo C, Gupta P, LaRusso K, Yazigi N, Kaltenmeier C, Guerra JF, Montes LA, Ekong U, Kroemer A, Garcia-Hervas D, Khan K, Genyk Y, Matsumoto C, Trentadue J, Ramisch D, Barros-Schelotto P, Fishbein T, Gondolesi GE.   +19 more
europepmc   +1 more source

Permanent Cardiac Pacing in Children: A 30‐Year Follow‐Up Retrospective Study in a Single Pediatric Asian Center

Journal of Arrhythmia, Volume 42, Issue 5, October 2026.
This 30‐year retrospective study of pediatric permanent pacing found acceptable long‐term device complication rates, with epicardial leads used predominantly. Pacing‐induced cardiomyopathy occurred only in children with congenital heart disease, highlighting the need for individualized pacing strategies in this cohort and long‐term echocardiographic ...
Jiahui Charmaine Chan, Dyan Zhewei Zhang, Koh Zhi Xuan, Sreekanthan Sundararaghavan, Jonathan Tze Liang Choo, Kah Leng Ho, Eric Tien Siang Lim, Ju Le Tan, Nurhafizah Binte Abdul Aziz, Wan Ting Chan, Monika Kotecha, Jan Hau Lee, Teng Hong Tan   +12 more
wiley   +1 more source

Successful surgical intervention and management of biliary atresia in a 4-month-old infant: a case report. [PDF]

Int J Surg Case Rep
Shafiqi M, Yama M.
europepmc   +1 more source

Partitioned Internal Auditory Canal: Association With Cochlear Aperture Anomalies

The Laryngoscope, Volume 136, Issue 10, Page 4416-4423, October 2026.
Partitioned internal auditory canal (IAC), defined by a bony septum separating the facial nerve from the cochleovestibular nerve, occurs significantly more often in ears with stenotic or atretic cochlear aperture. ABSTRACT Objective To investigate the association between partitioned internal auditory canal (IAC) and other inner ear abnormalities ...
Levent Sennaroğlu, Emel Tahir
wiley   +1 more source