Results 221 to 230 of about 363,478 (240)

Neurodevelopmental assessment at 24 months in infants with esophageal atresia: A prospective cohort study

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective To evaluate neurodevelopment at 24 months in infants surgically treated for esophageal atresia (EA), using the ages and stages questionnaire (ASQ), and identify perinatal and early‐life factors associated with developmental delay. Methods Infants with EA were prospectively enrolled in a structured multidisciplinary follow‐up program.
Julia Tagmouti   +8 more
wiley   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

open access: yesJPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno   +7 more
wiley   +1 more source

When protein losing enteropathy persists: A case series of viral and lymphatic‐associated etiologies

open access: yesJPGN Reports, EarlyView.
Abstract Protein‐losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations ...
Natalie Jennings   +7 more
wiley   +1 more source

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

open access: yesJPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton   +6 more
wiley   +1 more source

Risk Factors and Clinical Outcomes of Secondary Infection in Congenital Dacryocystocele. [PDF]

open access: yesOphthalmol Ther
Ren Y   +8 more
europepmc   +1 more source

A Novel Semi‐Quantified Method for Grading Sonographic Severity of Adenomyosis and its Relation With Clinical Symptoms

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Objective To correlate the sonographic severity of adenomyosis, assessed with real‐time ultrasound and a novel semi‐quantified method (XI‐VOCAL counting and categories) with adenomyosis‐associated symptoms. Methods This observational study was conducted in a tertiary referral outpatient clinic.
Lisa M. Trommelen   +5 more
wiley   +1 more source

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