research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research IMMUNOLOGICAL AND SOME BIOLOGICAL BIOMARKERS INVESTIGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
No single biomarker is reliable enough for diagnosing and assessing SLE.
research Structural abnormalities of the hair shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Microbial harmony in female reproductive health: exploring the impact of intestinal flora on ovarian function and disease pathogenesis
Gut bacteria affect female reproductive health and may help diagnose and treat related diseases.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research CURRENT PROSPECTIVE IN THE MANAGEMENT OF DEPRESSION USING OFF LABELLED DRUGS AND ADVANCED DRUGS
New medications are improving depression treatment, emphasizing accurate diagnosis and chronic care.
research Polycystic ovary syndrome
PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Polycystic Ovarian Syndrome in Female players
PCOS is common, affects fertility, and needs early diagnosis and lifestyle changes for management.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research The polycystic ovary syndrome: a position statement from the European Society of Endocrinology
The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Differential Expression of miR-93 and miR-21 in Granulosa Cells and Follicular Fluid of Polycystic Ovary Syndrome Associating with Different Phenotypes
The study found that certain microRNAs are higher in the cells and lower in the fluid of women with a specific type of polycystic ovary syndrome, and one microRNA could potentially help diagnose the condition.
research The pediatric origins of polycystic ovary syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research Reporting on Adverse Clinical Events
The FDA warned about safety issues with remdesivir and tofacitinib, finasteride is linked to suicidality, potent topical corticosteroids increase osteoporosis risk, henna can cause hemolysis in G6PD deficiency, chemotherapeutic agents can cause adverse reactions, drug interactions are common in cancer patients, ketamine can reduce at-risk drinking, high dose of anticholinergics increases dementia risk in Parkinson's patients, and prenatal exposure to second-generation antipsychotics increases pregnancy complications.
research Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity
PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
research Polycystic ovary syndrome
Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Polycystic Ovary Syndrome
Women with PCOS-related infertility can often conceive with treatments like clomiphene and metformin, but managing pregnancy complications is important.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research The Potential of Hair Matrix for Biomarker Analysis in Schizophrenia
Hair analysis could help diagnose and treat schizophrenia more effectively.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant
The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
research Recommendations from the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome
The 2023 guideline for PCOS suggests using updated diagnostic criteria, assessing related health risks, and recommends lifestyle changes and specific treatments for symptoms and fertility issues.
research The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.