Results 61 to 70 of about 45,305 (223)
JPGN Reports, EarlyView.Abstract Pancreatic and biliary tract injuries from blunt abdominal trauma are rare in children. Common bile duct (CBD) strictures secondary to pancreatic trauma are even more uncommon, and management traditionally involves surgery. We report a 9‐year‐old boy who developed a severe distal intrapancreatic CBD stricture after blunt pancreatic trauma ...
Alexis M. Woida +2 more
wiley +1 more source
Clinical and imaging features of malignant infantile osteopetrosis
The Turkish Journal of Pediatrics, 2017 Human osteopetrosis is a rare genetic disorder caused by osteoclast failure. It encompasses a group of highly heterogeneous forms, ranged widely in severity.
Miniar Tfifha +8 more
doaj +1 more source
Preleukemia: hematological disorders prior to onset of leukemia [PDF]
, 1975 Published data on Japanese leukemia patients with a preleukemic hematological disorder were assessed. The reexamined cases were from the "Japona Centra Revuo Medicina" reported during the period from 1952 to 1971.
Hiraki, Kiyoshi +5 more
core +1 more source
JPGN Reports, EarlyView.Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon +10 more
wiley +1 more source
Gaucher's disease: report of 11 cases with review of literature
The Pan African Medical Journal, 2015 Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to
Laila Essabar +5 more
doaj +1 more source
Extreme Peripheral Blood Plasmacytosis Mimicking Plasma Cell Leukemia as a Presenting Feature of Angioimmunoblastic T-Cell Lymphoma (AITL). [PDF]
, 2019 Angioimmunoblastic T-cell lymphoma (AITL) is one of four major subtypes of nodal peripheral T cell lymphoma, characterized by its cell of origin, the follicular helper T-cell (TFH).
Alpdogan, Onder +7 more
core +1 more source
Late cutaneous schistosomiasis representing an isolated skin manifestation of Schistosoma mansoni infection [PDF]
, 2000 Ectopic late cutaneous schistosomiasis is usually preceded or accompanied by visceral schistosomiasis infection. Our patient presented the very rare case of late cutaneous schistosomiasis as an isolated skin manifestation.
Kick, G. +2 more
core +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Liver transplantation for type IV glycogen storage disease [PDF]
, 1991 TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis +17 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup +4 more
wiley +1 more source