September 2024 in “Dermatologica Sinica” This article describes a 10-month-old female with congenital smooth muscle hamartoma, highlighting the importance of differential diagnosis in congenital skin lesions due to potential malignancy risks.
December 2022 in “Archives of Clinical Trials” In this case series study, mild ovarian hyperstimulation syndrome was reported in only one out of 118 PCOS patients receiving highly purified HMG injections for IVF treatment.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
7 citations
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February 2025 in “Stem Cell Research & Therapy” In a study using a mouse model, HF-MSCs were reported to enhance ovarian function in cyclophosphamide-induced premature ovarian failure more effectively than HU-MSCs, potentially by preventing ferroptosis in granulosa cells via the KEAP1/NRF2/HO-1 pathway.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
May 2020 in “International journal of dermatology and venereology” This study introduces the term "hair matrix cyst" for a cyst with both pilomatricoma and epidermal cyst characteristics, highlighting its potential for misdiagnosis among similar skin conditions.
8 citations
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September 2016 in “Pediatric dermatology” This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
1 citations
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July 2021 in “Acta dermatovenerologica Croatica” This case report describes regression of hidradenitis suppurativa lesions in two patients after 16 weeks of adalimumab treatment.
September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.
September 2019 in “Journal of Investigative Dermatology” This study found that the clinical severity of hidradenitis suppurativa, evaluated through Hurley staging, VAS, PGA, and SAHS, significantly affects patients' work absenteeism and presenteeism, with presenteeism being more prevalent.
3 citations
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December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
2 citations
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January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
4 citations
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February 2022 in “PeerJ” This study found that hair follicle mesenchymal stem cells improved liver function and pathology in a mouse model of liver cirrhosis, potentially by inhibiting the TGF-β/Smad pathway and reducing hepatic stellate cell activation.
This study showed that exosomes from hyaluronic acid-primed induced mesenchymal stem cells promote hair growth by enhancing proliferation and migration of hair follicle dermal papilla cells and modulating key growth factors and signaling pathways, potentially counteracting the effects of DHT-induced hair loss.
August 2022 in “JAAD case reports” This case report describes a 36-year-old woman with hidradenitis suppurativa whose condition progressed to rapidly fatal squamous cell carcinoma, highlighting the potential for aggressive tumor development linked to specific protein markers.
11 citations
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January 2009 in “World Journal of Gastroenterology” This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.
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.
February 2026 in “Frontiers in Medicine” This study suggests that combining LMWHA solution and HCO might improve mild to moderate urinary incontinence in women with GSM, potentially offering benefits over HA therapy alone, but further research is needed.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
2 citations
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March 2021 in “Journal of Cosmetic Dermatology” This study found that human umbilical cord-derived mesenchymal stromal cell-conditioned media was safe and positively affected hair regeneration in 86.6% of participants in a pilot study.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
3 citations
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January 2021 in “Oxidative Medicine and Cellular Longevity” In this study, Nrf-2-expressing hair follicle mesenchymal stem cells showed the most significant therapeutic effect in a rat model of ulcerative colitis, suggesting a new potential treatment for the disease.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” 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.
August 2021 in “Research Square (Research Square)” In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
In this study, human umbilical cord mesenchymal stem cell-derived exosomes were found to promote the growth of human hair dermal papilla cells, partly by enhancing AKT-dependent signaling pathways, suggesting a potential role in treating hair loss.