Results 21 to 30 of about 10,890 (132)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

A novel central line securement vest reduces line trauma and improves quality of life in patients with intestinal failure

open access: yesJPGN Reports, Volume 7, Issue 3, Page 416-421, August 2026.
Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz   +6 more
wiley   +1 more source

Prenatal Magnetic Resonance Imaging Assessment of Fetal Airway Dimensions: Establishing an Anthropometric Database

open access: yesPrenatal Diagnosis, Volume 46, Issue 9, Page 1330-1338, August 2026.
ABSTRACT Objective Fetal airway anomalies can severely impair breathing at birth, potentially causing brain injury or death. Thus, early prenatal diagnosis is essential. While MRI is the most effective imaging modality for evaluating fetal airways, normative MRI data remain scarce.
Juliette Houssin   +4 more
wiley   +1 more source

Acute pneumopericardium following abdominal surgery in a young dog with previously undiagnosed congenital peritoneopericardial diaphragmatic hernia

open access: yesVeterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract A 5‐month‐old, entire, male labradoodle presented with acute respiratory distress following surgical repair of a congenital ventral abdominal wall defect performed earlier the same day. On admission, the dog was lethargic, tachypnoeic and tachycardic with normal peripheral pulses and muffled heart sounds.
Sarah Miliaux   +2 more
wiley   +1 more source

Renal Phosphate Reabsorption in Humans Depends on at Least Three Distinct Transporters Unlike in Mice

open access: yesActa Physiologica, Volume 242, Issue 8, August 2026.
ABSTRACT Aim Kidney excretion of phosphate is the gatekeeper of systemic phosphate homeostasis as evident from inborn and acquired diseases. Renal phosphate transporters are a promising target for phosphate‐lowering drugs, but molecular details of human kidney phosphate handling are largely unknown.
Ashley L. Fernandes   +10 more
wiley   +1 more source

CONGENITAL DIAPHRAGMATIC HERNIA

open access: yesAnnals of Surgery, 1923
Posterolateral congenital diaphragmatic hernia (Bochdalek's hernia, CDH) that presents in the neonatal period is often manifest as life-threatening respiratory distress due to mechanical compression of the cardiopulmonary system by herniated viscera. Most patients can be supported through surgical reduction and repair with standard neonatal techniques.
J F, Connors, W T, Robinson
openaire   +3 more sources

Living Donor Liver Transplantation in Pediatric Situs Inversus: A Case Series and Systematic Review

open access: yesPediatric Transplantation, Volume 30, Issue 8, August 2026.
ABSTRACT Liver transplantation (LT) in patients with situs inversus (S‐I) is rare and technically challenging. The literature on such cases, particularly in pediatric populations, remains limited. Here, we report the surgical considerations and outcomes of two pediatric recipients with situs inversus abdominalis who underwent liver transplantation for ...
Maria F. Fernandez   +19 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Management of Congenital Diaphragmatic Hernia [PDF]

open access: yesMedical Journal Armed Forces India, 2006
Dear Editor, This is with reference to the “Radiological Quiz” published in MJAFI 2005;61:50 & 78. The authors mention that immediate action required in congenital diaphragmatic hernia, is inserting a feeding tube in stomach, stopping feeds and operating the patient as an emergency.
openaire   +2 more sources

Congenital diaphragmatic hernia

open access: yes, 2021
Boonthai, Ampaipan, Losty, Paul D
openaire   +1 more source

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