Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article presents five cases of valproate-induced hyperammonemic encephalopathy in psychiatric patients treated at the authors' clinic and discusses existing literature on this side effect.

This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.

This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.

This case report details the challenging diagnostic journey of a 50-year-old woman with progressive supranuclear palsy, highlighting the disease's complex and variable clinical presentation.

This review found that patients with depression generally have higher hair cortisol concentrations compared to healthy controls, while those with PTSD tend to have lower concentrations.

In this study, combining Polynucleotides High Purification Technology with hyaluronic acid significantly reduced atrophic post-acne scar areas and improved Goodman-Baron scores in a majority of treated patients over six months, reaffirming the approach's beneficial effects in a real-world outpatient setting.

This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

This study found that sexual trauma, particularly occurring between ages 5-7, was significantly associated with blunted hair cortisol levels, revealing a potential critical developmental stage affecting HPA axis function. No significant link was observed between cortisol reactivity and other adverse childhood experiences or stressors.

This study observed that drug-naïve first-episode psychosis patients had higher hair cortisol concentrations than healthy controls, and these concentrations correlated with the severity of psychopathology.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.

This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.

This case report describes a 6 1/2-year-old girl with significant height growth and early pubic hair development.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

This case report highlights a rare instance of diffuse alveolar hemorrhage in a patient with catastrophic antiphospholipid syndrome, emphasizing the importance of early recognition and multidisciplinary management.

In this study, researchers found that the ability of hamster polyomavirus to cause lymphoid tumors in Syrian hamsters may be linked to its association with the tyrosine kinase p59fyn.

This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

This paper discusses the complex relationship between polycystic ovary syndrome (PCOS) and hyperprolactinemia, noting a decrease in prolactin levels following bromocriptine treatment, but reports no new clinical findings.

In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This case study reports an Asian female with congenital adrenal hyperplasia presenting atypically with polymenorrhagia, who showed improvement with oral dexamethasone, despite no change in hirsutism or clitoromegaly.

This case report describes a 29-year-old male with relapsing hepatitis A, a rare complication of acute hepatitis A virus infection, characterized by prolonged elevated liver chemistries and persistent HAV IgM, managed conservatively.

This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.

Hair cortisol concentration partly reflects HPA axis regulation but doesn't capture all its complexities.

In this study, researchers developed a novel delivery system using hyaluronic acid gels to encapsulate Huperzine A for Alzheimer's treatment, achieving extended release over 20 days and significantly improving pathology and behavior in mice, including enhanced memory and reduced neuroinflammation.

This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.

This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.