research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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630-660 / 1000+ resultsresearch Understanding, recognizing, and managing toxicities of targeted anticancer therapies
Targeted anticancer therapies can cause severe side effects similar to traditional chemotherapy, but with different types.
research UK guidelines on the management of iron deficiency in pregnancy
Early detection and treatment of iron deficiency in pregnancy are crucial for maternal and infant health.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No single treatment is clearly effective for central serous chorioretinopathy.
research Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
research A complete guide to human microbiomes: Body niches, transmission, development, dysbiosis, and restoration
Modern lifestyles harm beneficial microbes, affecting health.
research Prostate Cancer Early Detection, Version 2.2015
The guidelines aim to find treatable prostate cancer early while avoiding unnecessary tests and treatments.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Treatment of tinea capitis – a critical appraisal
Griseofulvin is the best treatment for tinea capitis in children, but more research is needed on other treatments and safety.
research Proteolysis‐Targeting Chimera (PROTAC): Current Applications and Future Directions
PROTACs offer new ways to treat hard-to-target diseases, with promising drugs for cancer in advanced trials.
research Game Changers: Blockbuster Small-Molecule Drugs Approved by the FDA in 2024
In 2024, the FDA approved 27 innovative small-molecule drugs, with many offering significant treatment improvements.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research Imaging to study solid tumour origin and progression: lessons from research and clinical oncology
Biomedical imaging has greatly improved understanding and treatment of solid tumors.
research Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Association between Mesenchymal Stem Cells and COVID-19 Therapy: Systematic Review and Current Trends
Using mesenchymal stem cells or their exosomes is safe for COVID-19 patients and helps improve lung healing and oxygen levels.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research A Current Diagnostic and Therapeutic Challenge: Tinea Capitis
Early recognition and treatment of tinea capitis are crucial to prevent severe scalp issues and prolonged therapy.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Trailing the Path to Preventive Oncology
Preventing cancer involves lifestyle changes, vaccinations, early screening, and understanding cancer's molecular basis.
research Hirsutism-A Comprehensive Update of Embryology, Aetiopathogenesis and Therapeutic Approach
The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
research Clinical Applications of Extracellular Vesicles: Promises and Pitfalls
Extracellular vesicles show promise for medical use but face challenges in standardization and safety.
research Extracellular Vesicles in Alzheimer’s Disease: Dual Roles in Pathogenesis, Promising Avenues for Diagnosis and Therapy
Extracellular vesicles can worsen Alzheimer's but also offer potential for diagnosis and treatment.
research Molecular Diagnostics and Control of Zoonotic Dermatophytosis: First Detection of Trichophyton indotineae in a Dog in Africa
Accurate diagnosis and effective treatment are crucial to manage and prevent the spread of skin fungal infections in animals.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.