Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2.

Pediatr Blood Cancer

Division of Hematology/Oncology and Blood and Marrow Transplant Program, Children's Hospital of Michigan, Carman and Ann Adams Department of Pediatrics, Barbara Ann Karmanos Cancer Center, Central Michigan University College of Medicine, Detroit, Michigan.

Published: February 2021

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.28592DOI Listing

Publication Analysis

Top Keywords

expanding clinical
4
clinical spectrum
4
spectrum female
4
female x-linked
4
x-linked lymphoproliferative
4
lymphoproliferative syndrome
4
expanding
1
spectrum
1
female
1
x-linked
1

Similar Publications

Background: The armamentarium of medical therapies to treat inflammatory bowel disease (IBD) continues to grow, which has expanded treatment options, particularly after first biologic failure. Currently, there are limited studies investigating the predictive value of first biologic primary non-response (PNR) on subsequent biologic success. Our objective was to determine if PNR to the first biologic for IBD is predictive of response to subsequent biologic therapy.

View Article and Find Full Text PDF

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.

View Article and Find Full Text PDF

Background: The COVID-19 pandemic has caused psychological distress to the population and healthcare workers. Physicians' well-being is essential and contributes significantly to overall health. This study aimed to assess the strain on Polish general practitioners from the effects of the COVID-19 pandemic and to ascertain the potential predictors of their distress.

View Article and Find Full Text PDF

Bacterial proteome microarray technology in biomedical research.

Trends Biotechnol

January 2025

Department of Food Safety/Hygiene and Risk Management, National Cheng Kung University, Tainan, Taiwan; Institute of Basic Medical Sciences, National Cheng Kung University, Tainan, Taiwan. Electronic address:

Bacterial proteome microarrays are high-throughput, adaptable tools that allow the simultaneous investigation of thousands of proteins from various bacterial species. These arrays are used to explore bacterial pathogenicity, pathogen-host interactions, and clinical diseases. Recent advancements have expanded their application to profiling human antibodies, identifying biomarkers for infectious and autoimmune diseases, and studying antimicrobial peptides (AMPs).

View Article and Find Full Text PDF

The public health risks of counterfeit pills.

Lancet Public Health

January 2025

Department of Family Community Medicine, University of California, San Francisco, San Francisco, CA, USA.

Synthetic illicit drugs, such as nitazenes and fentanyls, are becoming commonplace in countries around the world, including in Europe, Australia, and Latin America, which raises concern for overdose crises like those seen in North America. An important dimension of the risk represented by synthetic drugs is the fact that they are increasingly packaged in counterfeit pill form. These pills-often indistinguishable from authentic pharmaceuticals-have substantially widened the scope of populations susceptible to synthetic drug overdose in North America (eg, among adolescents experimenting with pills or tourists from the USA seeking psychoactive medications from pharmacies in Mexico).

View Article and Find Full Text PDF

Want 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!