research Pathophysiology of the Behçet's Disease
Behçet's Disease may be caused by genetic and environmental factors leading to abnormal immune responses, and stress management and new treatments could improve patient outcomes.
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research Differential impact of environmental factors on systemic and localized autoimmunity
Environmental factors like diet and vitamin levels, especially Vitamin D, can affect autoimmune diseases differently, with lifestyle changes potentially improving outcomes.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Bone Metabolism in Patients with Hidradenitis Suppurativa: A Case-control Study
People with hidradenitis suppurativa often have lower vitamin D levels, weaker hip bones, and altered bone metabolism markers.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Risk of ovarian hyperstimulation syndrome in infertile patients with PCOS treated by HP HMG
Treating PCOS patients with HP HMG significantly raises the risk of ovarian hyperstimulation syndrome, needing careful dose management.
research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
research Hypersensitivity reactions to anticoagulant drugs: diagnosis and management options
Allergic reactions to blood thinners are rare but can be serious, requiring careful testing and alternative treatments.
research Hypersensitivity Reactions to Anticoagulant Drugs
Allergic reactions to blood thinners are rare but can be serious, requiring careful management and alternative treatments.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research The role of high serum uric acid levels in androgenic and non-androgenic polycystic ovarian syndrome patients
High uric acid levels are more common in PCOS patients, especially those with androgenic PCOS, and are linked with increased cardiovascular risk and other metabolic issues.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research Prehyperuricemia: New Milestone in Metabolic Disorders
The article concludes that early diagnosis and lifestyle changes can prevent complications from high uric acid levels.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Evaluation of Serum Homocysteine, High-Sensitivity CRP, and RBC Folate in Patients with Alopecia Areata
Patients with alopecia areata have lower RBC folate levels, especially in severe cases.
research S2926 Hepatic Steatosis and Acute Liver Injury in Chronic Arsenic Exposure
Chronic arsenic exposure can cause liver damage and other health issues.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism*
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
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 Estrogen-Androgen Imbalance in Patients with Hirsutism and Amenorrhea
Low estrogen and high testosterone may cause excessive hair growth in women.
research An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.