research Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Immune-Mediated Diseases of the Central Nervous System
The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
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.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Relationship Between Androgenic Alopecia and White Matter Hyperintensities in Apparently Healthy Subjects
Hair loss can indicate brain aging and potential small vessel disease, but more research is needed to understand the clinical impact.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Consequences of Steroid-5α-Reductase Deficiency and Inhibition in Vertebrates
Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Analysis of Androgen Receptor Expression and Activity in the Mouse Brain
Androgen receptors in the mouse brain may explain cognitive and mood changes in prostate cancer treatment.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Polycystic Ovary Syndrome, Insulin Resistance, and Obesity: Navigating the Pathophysiologic Labyrinth
Insulin resistance and obesity are key factors in the development and worsening of polycystic ovary syndrome, and lifestyle changes are important for managing it.
research Sex Differences in Opioid-Mediated Effects: Role of Androgens
Men and women react differently to opioids, with hormones potentially influencing these differences.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research The Neurobiology of Sexual Function
Testosterone is important for men's sexual function, may help some women's sexual desire, while other hormones and neurotransmitters also play complex roles in sexual behavior.
research Stem Cells and the Circadian Clock
The circadian clock influences the behavior and regeneration of stem cells in the body.
research Post-Finasteride Syndrome and Post-SSRI Sexual Dysfunction: Two Sides of the Same Coin?
PFS and PSSD are similar conditions with persistent sexual dysfunction after stopping medication.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Pathophysiological Mechanisms Implicated in Postpartum Depression
Postpartum depression is linked to changes in brain chemicals, inflammation, stress, and certain genes, and can potentially be identified by markers like specific steroids, serotonin levels, and vitamin D levels.
research Neurosteroidogenesis Today: Novel Targets for Neuroactive Steroid Synthesis and Action and Their Relevance for Translational Research
New targets for making and using brain-synthesized steroids could lead to better treatments for brain disorders and alcoholism.
research Physiopathological Role of the Enzymatic Complex 5α-Reductase and 3α/β-Hydroxysteroid Oxidoreductase in the Generation of Progesterone and Testosterone Neuroactive Metabolites
The enzymes 5α-reductase and 3α/β-hydroxysteroid oxidoreductase help create brain-active substances from progesterone and testosterone, which could be used for treatment, but more research is needed to ensure their safety and effectiveness.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Kisspeptin and LH Pulsatile Temporal Coupling in PCOS Patients
Women with regular menstrual cycles and PCOS have linked kisspeptin and LH hormone patterns, unlike those with irregular cycles.
research Melatonin
Melatonin may help with sleep issues, depression, and cancer, but more research is needed.
research Manifestation of Hyperandrogenism in the Continuous Light Exposure-Induced PCOS Rat Model
Continuous light exposure in rats leads to PCOS-like symptoms and suggests sleep habits might affect the disorder's development.