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.
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research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Proceedings of the Ninth World Congress for Hair Research 2015
The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.
research Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-Year-Old Female
The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
research Reconsidering PCOS Etiology, Diagnosis, Clinical Subgroups, and Subgroup-Specific Treatments
Different types of PCOS need specific diagnosis methods and treatments.
research Tackling Underrepresentation to Aid Understanding of Parkinson’s Disease: Progress and Further Opportunities
Increasing research diversity is key for better understanding and treating Parkinson's Disease.
research Protein Profiling of Forehead Epidermal Corneocytes Distinguishes Frontal Fibrosing From Androgenetic Alopecia
Protein profiling of forehead skin can help distinguish between frontal fibrosing alopecia and androgenetic alopecia.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Poikiloderma, Hyperpigmentation, Alopecia, Hypohidrosis, Malformed Bones, Lymphedema of the Legs and Decreased Cortisol Level: A New Entity?
A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Roles of Tumor Suppressors in Regulating Tumor-Associated Inflammation
Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
research Careless Talk Costs Lives: Fibroblast Growth Factor Receptor Signalling and the Consequences of Pathway Malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Keratin Function and Regulation in Tissue Homeostasis and Pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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 A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Whole Genome Sequencing Analysis of Alpaca Suggests TRPV3 as a Candidate Gene for the Suri Phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Animal Models of Alopecia
The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
research Alopecia in Women Submitted to Childhood X-Ray Epilation for Tinea Capitis Treatment
Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.
research Hair and Nail Relationship: A Comparative Study
Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
research Why Are Men With Premature Alopecia at Higher Risk of Benign Prostatic Hyperplasia? And What About Prostate Cancer?
Men with early hair loss may have a higher risk of enlarged prostate and possibly prostate cancer due to shared hormonal factors.