research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Relationships between hair-follicle afferent axons and glycine-immunoreactive profiles in cat spinal dorsal horn
Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Clinical case of delayed diagnosis of celiac enteropathy
The patient was diagnosed with celiac disease after a long delay, showing the need for better awareness and earlier detection.
research Epitopes, avidity and IgG subclasses of tyrosine hydroxylase autoantibodies in vitiligo and alopecia areata patients
TH antibodies in vitiligo and AA patients recognize the same protein parts.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Concurrent hepatitis B and autoimmune hepatitis a rare presentation of acute liver failure: a case report
A young woman recovered well from rare simultaneous Hepatitis B and autoimmune hepatitis after treatment.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Pityriasis amiantacea following bone marrow transplant.
A woman developed a hair disorder after a bone marrow transplant, which improved with treatment.
research Clinico-Therapeutics of Hypothyrodism in a Labrador dog
The Labrador dog fully recovered from hypothyroidism after 3 months of treatment.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research [Sodium valproate-induced kinky hair].
A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
research 2‐Deoxy‐d ‐glucose enhances tonic inhibition through the neurosteroid‐mediated activation of extrasynaptic GABA A receptors
2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
research Comprehensive characterization of keratin extracted from patients with androgenetic alopecia and healthy individuals through multimolecular spectroscopy and structural analysis
Keratin in people with androgenetic alopecia shows specific changes that could help develop new treatments.
research SAT-LB82 Myxedema as Presenting Feature of Profound Primary Hypothyroidism in a Toddler
A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty
Primary amenorrhea and delayed puberty in females can be diagnosed and managed effectively.
research A case of secondary diabetes mellitus associated with chronic arsenic toxicity
Chronic arsenic toxicity can cause diabetes and may not improve even with treatment.
research P.1.g.012 Neurocognition in patients with bipolar type I disorder in remission: relation between vitamin B12 and folic acid
research Concomitant acute alopecia and profound bone marrow suppression: An unusual manifestation of azathioprine toxicity
Stopping azathioprine improved hair loss and bone marrow issues.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
research Letters to the Editor
A gluten-free diet resolved a girl's symptoms, revealing undiagnosed Coeliac disease as the cause.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Image 4_Associations between ionomic profile and metabolic abnormalities in a murine model of sodium sulfide induced alopecia areata.tif
Targeting specific metabolic and ionic pathways may improve alopecia areata treatment.
research Plasma Androgens in Children and Adolescents
Normal androgen levels need ACTH, and different mechanisms control adrenarche and gonadarche.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.