Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.

This review analyzes the mnemonic MY PCOS, exploring diagnosis and treatment strategies for the metabolic, cosmetic, and reproductive complications of polycystic ovary syndrome, without reporting new clinical findings.

This study found that the cocrystal of mycophenolic acid with isonicotinamide significantly improved solubility and dissolution rate, while two other cocrystals showed decreased performance in these areas.

This study found that Merkel cell carcinoma recurrence risk peaks within the first two years after diagnosis and varies significantly by stage, with immune suppression, age, and male sex also influencing risk.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.

This study found that a mitoxantrone, vincristine, and prednisolone regimen effectively treated recurrent breast cancer with a 70% response rate, though it was associated with significant myelosuppression.

This study reported the development of new pyrazole-based MPC inhibitors that effectively inhibit mitochondrial pyruvate transport, showing potential as therapeutic candidates for conditions like metabolic dysfunction-associated steatohepatitis without activating PPARγ.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.

This study found a strong dose-related increase in the risk of intracranial meningiomas associated with high doses of cyproterone acetate, with some reduction in risk after stopping the treatment.

This study explored using large language models to automatically identify monkeypox cases from electronic medical records, finding that models based on DeepSeek features performed better than traditional methods, with logistic regression showing high accuracy in detecting key symptoms like fever and rash.

This study observed that MIRV improved gastrointestinal symptoms and other quality of life measures in patients with platinum-resistant ovarian cancer compared to chemotherapy.

This review examines androgen status in male and female obesity and its influence on the metabolic syndrome, but reports no new clinical results.

This study concluded that intramuscular administration of medium-dose cyproterone acetate with oral ethinylestradiol is highly effective in managing hirsutism, showing better response rates than high-dose oral treatment.

This pilot study employed in-vivo multiphoton microscopy to visualize pigment-producing melanocytes in vitiligo patients, aiming to enhance understanding of treatment impacts and potentially improve transplantation therapies.

This study found that novel MPC inhibitor analogues with specific chemical modifications promoted significant hair growth in shaved mice when applied topically.

In this study, Mononuclear Cells provided site-specific protection against chemotherapy-induced alopecia in rats treated with Ara-C, but not with CTX or VP-16, while PRP showed no protective effect.

This case report details the first observed instance of congenital erythropoietic porphyria in Armenia, where standard treatments did not stop symptom progression in a 22-year-old man, prompting consideration of stem cell transplant.

This review explores the potential diagnostic and therapeutic applications of extracellular vesicles in treating various skin conditions but reports no new clinical study results.

This study highlights the importance of dermoscopic examinations in accurately diagnosing skin cancer, which can be mistaken for benign seborrheic keratosis, emphasizing the need for trained interpretation to avoid missing malignant lesions.

In this study, researchers presented cases of cellular neurothekeoma in three male family members with early-onset in infancy, suggesting a potential genetic component and inheritance pattern, which deviates from the typical presentation seen mostly in women between 20–30 years.

This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.

This review discusses the multifunctional role of PKM2 in promoting cardiac repair and regeneration, highlighting its potential as a therapeutic target in cardiovascular medicine, but reports no new experimental results.

This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.