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Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.
Osteoporos Int
January 2025
Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain.
A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.
View Article and Find Full Text PDFSurveillance for variants escaping detection with the Aptima Combo 2 assay in Canada from 2019 to 2021.
Microbiol Spectr
January 2025
National Microbiology Laboratory Branch, Public Health Agency of Canada, Winnipeg, Manitoba, Canada.
Unlabelled: Nucleic acid amplification tests (NAATs) are the method of choice for diagnosis, but these strategies are susceptible to target site mutations. variants escaping detection with the Aptima Combo 2 (AC2) assay on the Hologic Panther instrument from 23S rRNA mutations have been reported in Nordic countries, England, Japan, and the United States. Given the potential for false negative results, this study investigated whether strains of with AC2 target site mutations were present in Canada.
View Article and Find Full Text PDFThe Many Faces of Philadelphia: A Mature T-Cell Lymphoma with Variant Philadelphia-Translocation and Duplication of the Philadelphia Chromosome.
Hematol Rep
January 2025
Department of 1st Internal Medicine, Medical School, University of Pécs, Ifjúság Str. 13, 7624 Pécs, Hungary.
T-cell prolymphocytic leukemia (T-PLL) is a rare mature T-cell lymphoma that is usually associated with poor prognosis and short overall survival. We present a case of a 61-year-old woman presenting with T-PLL and the leukemic cells harboring (-breakpoint cluster region; -ABL protooncogene 1) fusion transcripts as the result of a variant of t(9;22)(q34;q11) called Philadelphia translocation: t(9;22;18)(q34;q11;q21). Sequencing revealed a rare transcript with an exon 6 breakpoint corresponding to e6a2 transcripts, which has thus far been reported in only 26 cases of leukemias.
View Article and Find Full Text PDFPseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.
Fetal Pediatr Pathol
January 2025
Lauren V. Ackerman Laboratory of Surgical Pathology, Department of Pathology and Immunology, St. Louis, MO, USA.
, a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. We present a case of a "healthy" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated.
View Article and Find Full Text PDFCase report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.
Front Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
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