research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
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research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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 A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
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.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Zeb2 recruits HDAC–NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination
Zeb2 is crucial for nerve repair by controlling Schwann cell function.
research Skin diseases in the alpaca (Vicugna pacos): a literature review and retrospective analysis of 68 cases (Cornell University 1997–2006)
Many alpacas have skin diseases, with bacterial infections being the most common.
research Hyperadrenocorticism (Hyperadrenocorticoidism, Hyperadrenocorticalism, Cushing’s Disease, Cushing’s Syndrome)
Treatment can improve survival and symptoms in dogs with Cushing's disease, but outcomes are unpredictable.
research Hair Removal With the 3-msec Alexandrite Laser in Patients With Skin Types IV-VI: Efficacy, Safety, and the Role of Topical Corticosteroids in Preventing Side Effects
The laser effectively removes hair for skin types IV and V but is less effective for type VI.
research Trichostasis Spinulosa
The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
research Trichostasis Spinulosa
The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
research The direct inhibitory effect of dutasteride or finasteride on androgen receptor activity is cell line specific
Dutasteride and finasteride affect different cell types differently.
research Molecular Mechanisms Lead to Sex-Specific COVID-19 Prognosis and Targeted Therapies
Men are more at risk for severe COVID-19 due to biological differences, suggesting the need for targeted treatments.
research Fractional Laser-assisted Hair Regrowth and Microneedling for the Treatment of Alopecia Areata: A Review
Fractional lasers and microneedling, combined with topical agents, could potentially treat Alopecia Areata effectively, but more research is needed due to limited data.
research Why were Sardinians the shortest Europeans? A journey through genes, infections, nutrition, and sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research Bacteria and fungi on the surface and within noninflamed hair follicles of skin biopsy specimens from horses with healthy skin or inflammatory dermatoses
Horses with skin disease have more surface bacteria than healthy horses.
research Intracorneal vacuoles in skin diseases with parakeratotic hyperkeratosis in the dog: a retrospective light‐microscopy study of 111 cases (1973–2000)
Intracorneal vacuoles are common in parakeratotic skin diseases in dogs, especially with more parakeratosis.
research Low serum testosterone is associated with an increased risk of first-time renal calculi in men without testosterone replacement therapy
Low testosterone increases kidney stone risk in men not on testosterone therapy.
research GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)
The improved genome of the African spiny mouse helps study its tissue regeneration.
research Bacterial Skin Diseases
Bacterial skin diseases in camelids are often caused by moisture, trauma, and infections.
research Microscopic anatomy of the skin of the woodchuck (Marmota monax): comparison of woodchuck hepatitis virus-infected and non-infected animals.
WHV infection does not affect woodchuck skin anatomy.
research Biomolecules of Fermented Tropical Fruits and Fermenting Microbes as Regulators of Human Hair Loss, Hair Quality, and Scalp Microbiota
Fermented papaya and mangosteen in hair care products helped prevent hair loss and improve hair thickness.
research The Administration of Ocoxin Increases the Quality of Life of Patients with Advanced Epithelial or Metastatic Ovarian Cancer Undergoing Neoadjuvant Chemotherapy
Ocoxin improves quality of life for advanced ovarian cancer patients on chemotherapy.
research The Use of Human Dermal Papillae Conditioned Medium (HDPCM) on Aplasia Cutis Congenita in Lower Extremity due to Intrauterine Varicella Infection
HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
research Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.