research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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research Planar Cell Polarity-Dependent and Independent Functions in the Emergence of Tissue-Scale Hair Follicle Patterns
Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.
research Leucaena Leucocephala: A Nutritional Profile
Leucaena leucocephala is nutritious but needs careful processing to remove toxins.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research HIV Infection Mimicking Autoimmune Disorder
A girl with symptoms like an autoimmune disorder actually had HIV and a fungal infection, which was hard to diagnose and treat, leading to her death.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Wnt/β-Catenin and ERK Pathway Activation: The Possible Mechanism of Various LED Light Regulating the Proliferation of Human Outer Root Sheath Cells
LED light helps human hair root cells grow and move by activating certain cell pathways.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Peripheral Arterial Disease: Diagnosis And Management
PAD is common but often missed, needing lifestyle changes and medication for better outcomes.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Peripheral Arterial Disease: Diagnosis and Management
Early recognition and treatment of Peripheral Arterial Disease is crucial to improve survival and health outcomes.
research Difficult and Rare Forms of Acne
The document talks about hard-to-treat and rare acne types, their connection with other health issues, the importance of correct diagnosis, and the challenges in managing them.
research A Vitamin to Consider: Refractory Hypercalcemia from Vitamin A Toxicity
Vitamin A toxicity can cause serious health issues like hypercalcemia and is often overlooked.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Conventional Histopathology and New Technologies in Cutaneous Mucinoses: Old Diagnostic Criteria and New Therapeutic Perspectives
New technologies show potential for better understanding and treating skin conditions with abnormal mucin, but more research is needed for clinical use.
research Hypercalcemia-Induced Altered Mental Status as the Primary Manifestation of Classic Hodgkin Lymphoma
An 87-year-old man showed unusual signs of Hodgkin lymphoma, primarily high calcium levels, which improved after treatment and revealed the disease.
research Defining the Cellular Environment in the Organ of Corti Following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea
The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
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 Synaptic-Like Vesicles and Candidate Transduction Channels in Mechanosensory Terminals
SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Immune-Mediated Coombs Negative Intravascular Hemolysis in Systemic Lupus Erythematosus
A woman with lupus had blood cell destruction, treated successfully with medication.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Bilaterally Symmetrical Alopecia With Reticulated Hyperpigmentation
A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
research Evo Devo of the Vertebrate Integument
The skin systems of jawed vertebrates evolved diverse appendages like hair and scales from a common structure over 420 million years ago.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.