Results 141 to 150 of about 269,697 (252)

A case report of non‐syndromic colonic ganglioneuroma in a patient with juvenile polyposis

JPGN Reports, EarlyView.
Abstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Holly Coffey, Kshitij Arora, Matthew J. Giefer   +2 more
wiley   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Carrier frequency of autosomal recessive monogenic disorders in the peruvian population. [PDF]

Front Genet
Abarca Barriga HH, Vásquez-Sotomayor FDM, Punil Luciano R.   +2 more
europepmc   +1 more source

Reversal of surgical biliary diversion with ileal bile acid transport inhibitors: A new chapter in progressive familiar intrahepatic cholestasis type 1 management?

JPGN Reports, EarlyView.
Abstract Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1) is a multisystem disorder. Although liver transplant (LT) resolves the hepatic disease, post‐LT complications may occur, including severe enteropathy and graft steatosis caused by impaired bile acids handling by the native intestine.
Teresa Botelho, Giulia Jannone, Roberto Tambucci, Catherine de Magnee, Isabelle Scheers, Etienne Sokal, Xavier Stephenne   +6 more
wiley   +1 more source

Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy. [PDF]

J Hum Immun
Puel A, Casanova JL, Béziat V.
europepmc   +1 more source

Long‐Term Clinical Response After Low‐Dose and Short‐Duration Cemiplimab Therapy in a Patient With Xeroderma Pigmentosum in Nepal

JEADV Clinical Practice, EarlyView.
Capsule Summary Xeroderma pigmentosum (XP) is associated with a high risk of multiple and aggressive cutaneous squamous cell carcinomas (CSCCs). The immune checkpoint inhibitor cemiplimab has been approved in advanced, unresectable, and/or metastatic CSCCs.
Sudip Parajuli, Arnab Panta, Sabina Bhandari, Anne Grange, Florent Grange, Upama Paudel   +5 more
wiley   +1 more source

Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia. [PDF]

Clin Genet
Almannai M, Alhanshani AA, Bakur K, Alkuraya FS.   +3 more
europepmc   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Further Support for Association of <i>DAND5</i> with Autosomal Recessive Laterality Disorders. [PDF]

Genes (Basel)
Chorin O, Bolkier Y, Katz U, Salem Y, Anikster Y, Shalva N, Barel O, Giladi M, Semo-Oz R, Ben-Ruby D, Lev-Hochberg S, Ityel H, Greenbaum L, Vivante A, Rein-Rothschild A, Pode-Shakked B.   +15 more
europepmc   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source