research Drug Eruptions in Dermatology
Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.
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240-270 / 1000+ results research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Heterozygous 21-Hydroxylase Deficiency as a Cause of Hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Non-Scarring Alopecia in Females: A Comprehensive Review
Non-scarring alopecia in females affects emotional well-being and requires accurate diagnosis and personalized treatment.
research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Alopecia Totalis in an Infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research A 9-Month-Old Infant with Severe Scalp Dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Cutaneous Lupus Erythematosus: A Comprehensive Review
The document concludes that skin biopsies, genetic and environmental factors, and specific treatments are important in managing cutaneous lupus erythematosus.
research Pediatric Systemic Lupus Erythematosus: More Than a Positive Antinuclear Antibody
Pediatric systemic lupus erythematosus is a severe autoimmune disease in children requiring early diagnosis and comprehensive management.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Familial Frontal Fibrosing Alopecia: A Cross-Sectional Study of 20 Cases from Nine Families
Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Introductory Chapter: Hair Loss
The document explains the causes, types, diagnosis, and treatments of hair loss, and its psychological impact, especially on women.
research A Rare Case of Cardiocutaneous Syndrome in a Young Child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Adult Onset Isolated Hypogonadotropic Hypogonadism: A Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research Contents
The document concludes that there have been significant advances in the treatment and diagnosis of various skin conditions.
research Polycystic Ovary Syndrome: Comprehensive Overview and Diagnostic Criteria
PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
research Temporal Triangular Alopecia and a Review of 52 Past Cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research HLA-B27 Antigen in Women With Ankylosing Spondylitis
Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Understanding Androgenetic Alopecia: Continuing Medical Education
The document concludes that androgenetic alopecia is common, has a genetic link, and can be diagnosed and treated with medications like finasteride and minoxidil.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed As Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Dissociative Disorders in Childhood Sexual Abuse Victims
Passiflora incarnata may help with anxiety but has risks and drug interactions.
There's a genetic link between Fragile X Syndrome and Autism Spectrum Disorder.
6.7% of urine cultures showed hospital-acquired urinary tract infections.
Children used screens more during COVID-19, causing various health complaints.
Autism Spectrum Disorder is often underdiagnosed in females.
Dissociative disorders in childhood sexual abuse victims are more common in males.
Most pregnant teenagers are not dissatisfied with their body image but worry about weight.
Diagnosing tuberculosis after knee surgery is challenging due to non-specific symptoms.
Post-COVID-19 syndrome is more common in older, severely affected patients.
Psychiatrists should be part of pain management teams due to the psychological aspects of pain.