research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Syphilis: A great imitator
Syphilis has a wide range of symptoms that can look like other diseases, and if not treated, it can progress to a more serious stage, especially in HIV-positive patients.
research PERAN SUPLEMENTASI VITAMIN D PADA TATA LAKSANA SARKOIDOSIS KUTIS
Vitamin D supplements should be used cautiously in sarcoidosis patients, with regular monitoring to avoid high calcium levels.
research The Case Files
Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
research Impact of Covid-19 on asthmatic patients in Western region in Saudi Arabia
Covid-19 affected asthmatic patients in Western Saudi Arabia.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Decision letter: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research Short Anagen Syndrome in an Indian Woman with its Impact on Quality-of-Life
An Indian woman with Short Anagen Syndrome had very short hair and a lower quality of life.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Post-Acute COVID Syndrome (PACS): Definition, Impact and Management
Clear definitions and strategies are needed to manage long-term COVID-19 symptoms effectively.
research Loose Anagen Hair Syndrome in a Saudi Girl
A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
research SCABIOSIS AND TOXOCARIOSIS IN A LOCAL DOG
The dog recovered well after treatment, showing no skin issues and normal hair growth.
research A comprehensive investigation into the molecular mechanism responsible for selective androgen receptor (SARM) tissue-selectivity
SARMs work differently in tissues due to unique interactions and structures.
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 Selamectin Spot-on: A Cure for Scabies in Rabbits
Selamectin spot-on effectively treats scabies in rabbits.
research Bioactive Compounds from the Roots of Asiasarum heterotropoides
Two compounds from Asiasarum heterotropoides roots show potential as lung cancer treatments without harming normal cells.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research SULFUR TREATMENT FOR SCABIOSIS IN LOCAL PUPPY
Sulfur-based treatments combined with simparica effectively treat scabies in puppies.
research Sarcoidosis in Polo Ponies: Case Study of Argentine-Cross Breeds
Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
research Mange in Rabbits: An Ectoparasitic Disease with a Zoonotic Potential
Mange in rabbits is a serious disease that can spread to humans and is treated with medications and supportive care.
research Isolation ofStaphylococcus simulansfrom Dermatitis in a Captive African Pygmy Hedgehog
Staphylococcus simulans may cause dermatitis in African pygmy hedgehogs.
research Design, Synthesis, and Biological Characterization of Metabolically Stable Selective Androgen Receptor Modulators
Researchers developed new compounds that target the androgen receptor effectively with fewer side effects.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Sarcoptic mange outbreak decimates South American wild camelid populations in San Guillermo National Park, Argentina
Sarcoptic mange nearly wiped out vicuñas and guanacos in an Argentine park.
research Systemic lupus erythematosus (SLE) in the eastern region of Saudi Arabia. A comparative study
SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.