research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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750-780 / 1000+ results research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Constipation With AMA and ANA Positivity as an Atypical Manifestation of Celiac Disease: A Case Report
A strict gluten-free diet can improve liver issues in celiac disease.
research Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin: A case report
Chemotherapy with docetaxel and cisplatin can cause severe low potassium, requiring careful monitoring and treatment.
research Hibiscus rosa sinensis Linn. Petals Modulates Glycogen Metabolism and Glucose Homeostasis Signalling Pathway in Streptozotocin-Induced Experimental Diabetes
Hibiscus petals helped control blood sugar and improve liver and pancreas health in diabetic rats.
research Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders
A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
research Pathophysiology of Insulin Resistance and Related Skin Diseases ( Review Article)
Insulin resistance can lead to skin problems like acne and psoriasis.
research Acanthosis nigricans, insulin resistance and cutaneous virilism
Patients with acanthosis nigricans often have insulin resistance and signs of increased male hormones, but treatment targeting these male hormones is generally ineffective.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Cachexia and graft-vs.-host-disease-type skin changes in keratin promoter-driven TNF alpha transgenic mice.
TNF alpha in skin cells causes weight loss, hair and fat issues, and skin inflammation in mice.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse
Copper therapy improved health and enzyme activity in mice with copper deficiency.
research Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b
A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.
research Baricitinib as a treatment for myasthenia gravis: A case report
Baricitinib successfully treated myasthenia gravis and alopecia in a patient.
research Increased Incidence and Risk of Hair Loss with Glucagon-like Peptide 1 Receptor Agonists: A Real-World Multicentre Cohort Study
GLP-1RA therapy may increase the risk of hair loss.
research Placental mRNA expression of Neurokinin B is increased in PCOS pregnancies with female offspring.
Neurokinin B levels are higher in the placentas of women with PCOS who have female babies.
research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research A woman with headaches and blurred vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research PEG-Immobilized Keratin for Protein Drug Sequestration and pH-Mediated Delivery
PEG and keratin scaffolds can effectively deliver protein drugs by controlling release based on pH levels.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Wnt/β-catenin signaling activator restores hair regeneration suppressed by diabetes mellitus
Wnt/β-catenin activators can help regrow hair lost due to diabetes.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research P576 Kerion: a nasty scalp infection
Kerion is a rare but serious scalp infection that needs proper treatment.
research Risk of Alopecia Areata with Glucagon-Like Peptide-1 Receptor Agonists for Weight Loss
GLP-1 agonists may increase the risk of hair loss.
research Testosterone (T) secreting tumor or insulin resistance? metformin (M) as a diagnostic (Dx) and therapeutic (Rx) trial
Metformin can help diagnose and treat high testosterone levels in women, often due to insulin resistance rather than a tumor.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Pigmentary Puzzle: A Rare Case of Hyperpigmented Cutaneous Sarcoidosis
Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.