Results 111 to 120 of about 620,878 (264)

Unmasking the Culprit of Profound Hyponatremia in an Infant

open access: yesCase Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Infants with severe hyponatremia (Na < 120) and an abdominal mass require an astute clinical evaluation and often represent a medical emergency. We report a case of a 2‐month‐old White female, born full term, presenting with a two‐day history of decreased oral intake and urinary output, who was found to have severe hyponatremia with notable abdominal ...
Bayan Matarneh   +3 more
wiley   +1 more source

Carcinoma of the Colon in an Adult with Intestinal Malrotation

open access: yesCase Reports in Surgery, 2013
Colon cancer is the third most common cancer in the USA. Intestinal malrotation diagnosed in adulthood was, until recently, a very rare phenomenon. While patients may present with intestinal obstruction or abdominal pain, the diagnosis is now often made ...
Michael Donaire   +4 more
doaj   +1 more source

Assessment of plasma microRNAs in congenital intestinal malrotation

open access: yesMolecular Medicine Reports, 2020
Intestinal malrotation in newborns often requires urgent surgical treatment, especially in the presence of volvulus. Therefore, early-stage diagnosis is critical.
Xiurui Lv   +5 more
semanticscholar   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome

open access: yesNeurogastroenterology &Motility, Volume 37, Issue 12, December 2025.
Ganglion cells immunohistochemically labeled with pan‐neuronal marker HuC/D in sections from ileum. Note the different number of stained cells in the myenteric plexus. A, control subject, B, patient with SOX10 mutation (hypoganglionosis) C, patient with EDN3 mutation (aganlionosis). Both patients diagnosed with Waardenburg syndrome type 4 including gut
Björn Ersson   +3 more
wiley   +1 more source

Tessier number 30 clefts with congenital heart defects [PDF]

open access: yes, 2015
Introduction: Midline cleft of mandible, classified as Tessier 30 clefts is extremely rare, with less than 100 reported cases in the latest studies. Variations in severity and associated malformations have been reported before. Case Presentation: In this
Aminolsharieh Najaf, S.   +4 more
core   +1 more source

A case report of adult congenital intestinal malrotation

open access: yesFrontiers in Gastroenterology
Congenital intestinal malrotation is a rare congenital digestive tract anomaly, primarily due to the failure of the intestines to rotate and fix properly within the peritoneal cavity during fetal development.
Yu Gao   +3 more
doaj   +1 more source

Intestinal Malrotation in Children: Experience of a Tertiary Care Hospital in a Developing Country

open access: yesJanaki Medical College Journal of Medical Science, 2020
Background and Objectives: Intestinal malrotation is a congenital disorder resulting from abnormal rotation of the intestine during fetal development.
C. Emeka
semanticscholar   +1 more source

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