research Five Cluster Classifications of Long COVID and Their Background Factors: A Cross-Sectional Study in Japan
The study identified five types of long COVID symptoms and suggests tailored management strategies for each.
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research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Clinical, Histopathological and Immunological Characteristics of Exfoliative Cutaneous Lupus Erythematosus in 25 German Short-Haired Pointers
A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
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 Clinical and Microscopic Features of Generalized Discoid Lupus Erythematosus in Dogs (10 Cases)
Dogs with generalized discoid lupus erythematosus have similar symptoms to humans and need continuous treatment.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Diagnosis of Hyperandrogenism: Clinical Criteria
The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research The Annual Changes of Clinical Manifestation of Androgenetic Alopecia Clinic in Korean Males and Females: An Outpatient-Based Study
AGA increased yearly, type I most common, and family history and seborrheic dermatitis often linked.
research Rotterdam Criteria–Based Diagnostic Subtype Is Not a Strong Predictor of Cutaneous Phenotype in Patients With Polycystic Ovary Syndrome: A Cross-Sectional Study
The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Thyroid Disorder Among Lean and Obese Polycystic Ovary Syndrome Phenotypes
Women with PCOS, especially if they are obese, are more likely to have an underactive thyroid than women without PCOS.
research Introduction to Innovations in the Immunology and Clinical Science of Alopecia Areata
New research is helping develop better treatments for alopecia areata.
research Unusual Patterns of Presentation of Frontal Fibrosing Alopecia: A Clinical and Trichoscopic Analysis of 98 Patients
Trichoscopy helps diagnose frontal fibrosing alopecia, even with unusual patterns.
research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Reliability of Histopathology for the Early Recognition of Fibrosis in Traction Alopecia: Correlation with Clinical Severity
Histopathology is not reliable for detecting early fibrosis in traction alopecia or for showing how severe it is.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Is There Any Association Between Clinical and Biochemical Hyperandrogenism in Women With Female Pattern Hair Loss?
Clinical signs of hyperandrogenism are related to female pattern hair loss severity, but biochemical markers are not.
research Association of Insulin Resistance with Polycystic Ovary Syndrome Phenotypes and Patients’ Characteristics: A Cross-Sectional Study in Iran
Most women with PCOS have insulin resistance, especially those with phenotype B.
research Intermediate Hair Follicles from Patients with Female Pattern Hair Loss Are Associated with Nutrient Insufficiency and a Quiescent Metabolic Phenotype
Nutritional supplements may help improve hair growth in female pattern hair loss.
research Clinical Characterization and Treatment Response of Folliculitis Decalvans Lichen Planopilaris Phenotypic Spectrum: A Retrospective Series of 31 Patients
This type of hair loss is probably often missed and treatments reducing inflammation might work well.
research Monitoring of Clinical Signs in Goats with Transmissible Spongiform Encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Alopecia Areata Incognita: Clinical Characteristics and Use of the Sinclair Shedding Scale
The Sinclair Shedding Scale is effective for diagnosing Alopecia Areata Incognita and monitoring treatment success.
research Adams–Oliver Syndrome: New Evidence in Variable Expressivity
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Identification of Drug-Disease Associations Using Information of Molecular Structures and Clinical Symptoms via Deep Convolutional Neural Network
A new model can predict drug-disease links well, helping drug research.