research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
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research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Precision Dermatology: A Review of Molecular Biomarkers and Personalized Therapies
Personalized medicine in dermatology uses molecular biomarkers to improve diagnosis and treatment but needs further advancements for practical use.
research Pan-cancer analysis of microRNA expression profiles highlights microRNAs enriched in normal body cells as effective suppressors of multiple tumor types: A study based on TCGA database
Certain microRNAs found in normal cells can effectively suppress various cancers.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research Contents
The document concludes that there have been significant advances in the treatment and diagnosis of various skin conditions.
research Extracellular vesicles in age-related diseases: disease pathogenesis, intervention, and biomarker
Extracellular vesicles can both worsen and help treat age-related diseases and are useful for early diagnosis.
research Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis
Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
research Transcriptome profiling of whisker follicles in methamphetamine self-administered rats
Methamphetamine affects gene expression in rat whisker follicles, with key genes linked to addiction.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Besnoitiosis in donkeys: an emerging parasitic disease of equids in Italy
Besnoitiosis, a parasitic disease, has been found in donkeys in Italy and may be more common in Europe than previously thought.
research Recent advances in the genetics of alopecia areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Identification of Trichophyton rubrum by Nested PCR Analysis from Paraffin Embedded Specimen in Trichophytia Profunda Acuta of the Glabrous Skin
Nested PCR can reliably identify fungal infections when traditional methods fail.
research Androgen receptor: A promising therapeutic target in breast cancer
The androgen receptor is a promising target for breast cancer treatment, especially in triple-negative cases, but more research is needed for personalized therapies.
research COVID-19 and andrology: Recommendations of the French-speaking society of andrology (Société d’Andrologie de langue Française SALF)
Wait 3 months after COVID-19 before trying assisted reproduction and further research is needed on COVID-19's effects on male hormones and fertility.
research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research LC-MS/MS improves screening towards 21-hydroxylase deficiency
LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
research Raising awareness of Demodex mites: a neglected cause of skin disease
Awareness and better treatment of Demodex mites can improve health and quality of life.
research THE POTENTIAL OF AI TO ENHANCE MEDICAL EDUCATION: OPPORTUNITIES, CHALLENGES, AND ETHICAL CONSIDERATIONS
AI can greatly improve medical education by personalizing learning and enhancing skills, but challenges like cost, training, and ethics need addressing.
research Chinese Experts Consensus on the Management of Uncommon Dermatophytosis
Experts created guidelines to better diagnose and treat uncommon fungal skin infections.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Advances in the Molecular Pathogenesis and Targeted Therapy of Psoriasis
New targeted therapies for psoriasis show promise but face challenges like side effects and treatment resistance.