A new translocation t(1;11;4)(1pter----1p32::11q23----11q13::4p16--- -4qter) was found in the peripheral blood of a patient with congenital acute myeloblastic leukemia (AML). It was concluded that this translocation may represent a new mutation, which caused the leukemia with very high leukocytosis, hepatosplenomegaly, leukemic infiltration of the majority of the organs, and a very poor prognosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00283060 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An atrial septal defect (ASD) is a common congenital heart anomaly that results in irregular blood flow between the systemic and pulmonary circulations due to an opening in the atrial septum. Ostium secondum ASD accounts for a large proportion of these defects and often goes unnoticed during childhood and adolescence. Pulmonary hypertension (PH), affecting a significant number of patients with ostium secondum ASD, is associated with functional limitations, heart failure, and tachyarrhythmias.
View Article and Find Full Text PDFChild Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFSmall Bowel Obstruction Linked to Meckel's Diverticulum: A Rare Case.
Cureus
December 2024
General Surgery, Local Health Unit of Alto Minho, Viana do Castelo, PRT.
Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract, arising from incomplete obliteration of the vitelline duct. MD contains all layers of the intestinal wall and often remains asymptomatic. Gastrointestinal bleeding, bowel obstruction, and acute diverticulitis occur in a few cases.
View Article and Find Full Text PDFPerforated Meckel diverticulitis: Diagnostic challenges and surgical outcomes.
Radiol Case Rep
March 2025
Department of General Surgery, Trauma and Burns Center, University of Tunis El Manar, Ben Arous, Tunisia.
Meckel's diverticulum, a congenital anomaly of the omphalomesenteric duct, is a rare cause of acute abdomen and poses significant diagnostic challenges due to its variable presentation and complications such as perforation. We present the case of a 19-year-old male with a 24-hour history of right iliac fossa pain progressing to generalized abdominal tenderness. Laboratory results showed leukocytosis and elevated C-reactive protein, while CT imaging suggested pneumoperitoneum and an inflamed Meckel diverticulum.
View Article and Find Full Text PDFSplenic Infarctions and Sepsis Secondary to Ceftriaxone-Associated Acute Pancreatitis: A Case of Interdisciplinary Collaboration.
Cureus
December 2024
Department of Medicine, Division of Infectious Disease, University of Illinois at Chicago, Peoria, USA.
The spleen plays a crucial role in filtering aging blood cells and defending against encapsulated microorganisms. While not essential for survival, splenic dysfunction can lead to severe complications, including organ failure, infection, and death. This case study examines a rare presentation of drug-induced splenic septic thrombophlebitis secondary to pancreatitis caused by an adverse reaction to ceftriaxone.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!