March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
197 citations
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June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
23 citations
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June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
2 citations
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December 2011 in “Annales de Dermatologie et de Vénéréologie” 2011 dermatological research found new skin aging markers, hair loss causes, skin defense mechanisms, and potential for new treatments.
1 citations
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January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human skin melanocytes with low mutation burdens are smaller, less dendritic, and exhibit stem-like features, often residing in UV-protected hair follicles, suggesting their role in replenishing sun-damaged epidermis.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
This study found that neonatal administration of finasteride reduced sensitivity to alcohol's motor-stimulating effects and increased preference for novelty and initial alcohol consumption in rats, suggesting a role in alcohol vulnerability.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
June 2024 in “BioSCIENCE” This study reviewed the use of microinfusion of microparticles (MMP®) with methotrexate for treating alopecia frontal fibrosante and found it reduced symptoms associated with the condition and improved specific scalp measurements, showing that the technique is safe and well-tolerated.
January 2023 in “Brazilian Journals Editora eBooks” People with cleft lip and palate often have respiratory problems.
January 2023 in “Brazilian Journals Editora eBooks” The document concludes that Passiflora incarnata could help with anxiety, telemedicine might improve heart failure care, screen time for kids has increased, pregnant teens in Brazil are mostly okay with their body image, rare tuberculosis infection can occur after knee surgery, older and severely ill people are more likely to have long COVID-19 symptoms, HPLC might diagnose more diabetes cases, and psychiatrists should be involved in pain management.
January 2023 in “Brazilian Journals Editora eBooks” Surgery to fix a broken upper arm bone can sometimes lead to nerve damage.
January 2023 in “Brazilian Journals Editora eBooks” 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.
January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
6 citations
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August 2020 in “JCRPE” This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.
June 2023 in “SPIRE - Sciences Po Institutional REpository” This study suggests that extracellular vesicles from prostate cancer cells could aid in identifying tumor heterogeneity and serve as biomarkers, while also playing a role in SARS-CoV-2 infection in nasopharyngeal mucus.
This study found that the nutraceutical product DERM decreased the pro-inflammatory cytokine IL-6 in mesenchymal stem cells under in vitro conditions.
1 citations
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January 2023 in “Brazilian Journals Editora eBooks” Children's screen time increased during the pandemic, causing various health issues.
January 2023 in “Brazilian Journals Editora eBooks” Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.
January 2023 in “Brazilian Journals Editora eBooks” Passiflora incarnata may help with anxiety and sleep issues but has side effects; teleconsultation for heart failure can improve quality of life; increased screen time for children during the pandemic led to more clinical complaints; older and severely affected COVID-19 patients are more likely to have long-term symptoms.
January 2023 in “Brazilian Journals Editora eBooks” Nursing staff's mental health was affected during the COVID-19 pandemic.
January 2023 in “Brazilian Journals Editora eBooks” Pharmacists play a key role in managing the use of anxiety medications and ensuring patients use them correctly.
January 2023 in “Brazilian Journals Editora eBooks” The document concludes that Passiflora incarnata may help with anxiety, healthcare workers need mental support, common bacteria cause hospital UTIs, telehealth for heart failure needs research, kids' screen time has increased, pregnant teens are mostly okay with their body image, diagnosing post-surgery tuberculosis is hard, older and severely ill people are more likely to have long COVID symptoms, and psychiatrists should be part of pain management teams.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
In this study, a very low-calorie ketogenic diet significantly improved metabolic and hormonal profiles in obese men, but did not significantly enhance most semen parameters except for sperm motility.
1 citations
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September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
October 2023 in “Open Repository of the University of Porto (University of Porto)” Pharmacists play a crucial role in patient care and optimizing treatment outcomes.