research Triple-Negative Sjogren’s Syndrome and Recurrent Pneumothorax: An Uncommon Presentation of Autoimmune Disease
Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
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research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research S100A6: molecular function and biomarker role
S100A6 is important for cell functions and can help diagnose and treat diseases.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Tinea Capitis Due to Trichophyton soudanense
A 6-year-old girl in the U.S. had a rare scalp infection caused by *Trichophyton soudanense*.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research A Case of Premature Hair Graying Treated with Ferrous Sulfate
Iron supplements can restore normal hair color in cases of premature graying linked to iron deficiency.
research Central centrifugal cicatricial alopecia
CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Altered resting-state activity in seasonal affective disorder
People with Seasonal Affective Disorder have different brain activity in certain areas when resting.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplements effectively treat acrodermatitis enteropathica.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research New Drugs: Eculizumab
Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
research Permanent diffuse alopecia after haematopoietic stem cell transplantation in childhood
Some children who had stem cell transplants developed permanent hair loss, especially when treated with a drug called busulphan.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Immune Thrombocytopenia as the Initial Manifestation of Pediatric Systemic Lupus Erythematosus: Case Reports
A child with low platelets and anemia was later found to have lupus.
research SAHA syndrome: female androgenetic alopecia and hirsutism.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with NUDT15 minor variant: A case report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
research Adult Onset Still Disease
High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
research S100A6 Protein—Expression and Function in Norm and Pathology
S100A6 protein is linked to disease progression, especially in cancers.
research Systemic lupus erythematosus and diabetic mellitus is it single or two entity(es)
SLE and DM can coexist but are rare and need careful evaluation.