19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
9 citations
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March 1968 in “The BMJ” In their 1957 study, Neuman and Neuman suggested that magnesium deficiency may inhibit the ion exchange process required for calcium ions to enter extracellular fluid, potentially affecting calcium mobilization.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
November 2022 in “Journal of Investigative Dermatology” This study found that in mouse melanocytes, the cytoplasmic dynein complex component Dynlt3 is necessary for proper melanosome transport, acidity regulation, and effective transfer to keratinocytes, linking it to skin pigmentation processes.
December 2025 in “Cell Communication and Signaling” This study discovered that minoxidil affects hematopoiesis by downregulating wnt4, leading to suppression of hematopoietic stem and progenitor cells and alleviating MDS-like symptoms in zebrafish and mice, with hematologic safety achieved at optimized doses.
5 citations
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January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
February 2026 in “Scientific Reports” This preclinical study found that Mesenchymal Stem Cell-derived Conditioned Media formulations were safe and effective in rat and mouse models for treating chemotherapy- and radiation-induced oral mucositis, demonstrating improved tissue regeneration and healing, most notably at higher concentrations.
May 2021 in “Medicina internă” This case report highlights a 31-year-old male with Adult Onset Still Disease, whose symptoms, including high fever, responded only to pulse-therapy with Methylprednisolone after failing to improve with usual treatments.
16 citations
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April 2006 in “Pediatrics International” This study reported that high-dose mizoribin therapy may be effective and safe for managing steroid-dependent pediatric systemic lupus erythematosus but requires monitoring of serum uric acid levels due to potential side effects.
7 citations
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February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
2 citations
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June 1983 in “Proc., Annu. Meet., Air Pollut. Control Assoc.; (United States)” This case study reports that ingestion of topical minoxidil, used for hair loss, can cause severe circulatory shock and acute pulmonary edema, necessitating immediate medical intervention with fluids and vasopressors.
19 citations
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December 2021 in “Stem Cell Research & Therapy” This study found that Muse cells, when injected subcutaneously, alleviated symptoms of atopic dermatitis in mice, suggesting potential for treating inflammatory skin conditions.
36 citations
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March 2002 in “Journal of Biological Chemistry” Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
28 citations
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July 2015 in “American Journal of Clinical Dermatology” This study found a higher prevalence of metabolic syndrome in patients with lichen planus, especially those with mucosal involvement, which is associated with increased cardiovascular and diabetes risk.
This case report describes a 40-year-old man with four autoimmune diseases leading to MAS, and suggests an additional classification category for MAS including autoimmune hypothyroidism, alopecia universalis, celiac disease, and immune thrombocytopenic purpura.
10 citations
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August 2020 in “Drug metabolism and drug interactions” This case series found that patients with the NUDT15 415C>T variant experienced severe azathioprine toxicity, suggesting genotype-based dosing could reduce adverse effects.
April 2025 in “JAAD reviews.” This review provides an overview of skin manifestations associated with substance use disorder but reports no new clinical findings; the authors emphasize the importance of dermatological evaluation and multidisciplinary care in managing these cases.
January 2002 in “대한피부과학회지” This study analyzed clinical manifestations in 18 dermatomyositis patients, noting that all exhibited skin rash and variable symptoms like itching and muscle weakness, with treatment involving prednisolone and hydroxychloroquine.
December 2023 in “International Journal of Dermatology” This study found an increased risk of asthma and allergic rhinitis in individuals with hidradenitis suppurativa.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
April 2015 in “Journal of Nutritional Therapeutics” This study found that a more liberal intake of restricted amino acids in patients with methylmalonic acidemia resulted in improved growth and fewer illness episodes.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
3 citations
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October 2022 in “Nano Letters” This study found that a microneedle patch using manganese thiophosphite showed greater hair regrowth potential compared to minoxidil, even with less frequent application, for treating androgenetic alopecia.
November 2021 in “Permskij medicinskij žurnal” This study found that women with menstrual dysfunction showed higher rates of magnesium, iron, and vitamin D deficiencies compared to women with normal menstrual function.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
6 citations
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April 2019 in “Advances in Pharmacology and Pharmacy” This study found that methanol extract of Mimosa pudica showed dose-dependent sedative effects in mice, suggesting its potential for developing new sedative and anti-anxiety medications.
June 2025 in “Journal of Drug Delivery Science and Technology” A dissolving microneedle patch with dutasteride offers effective, long-lasting hair loss treatment with fewer side effects.