13 citations
,
August 2022 in “Nanomaterials” This study reported that a novel trilayer electrospinning wound dressing can improve the wound microenvironment and accelerate repair in abdominal wall defects by facilitating directional biofluid transport and reducing inflammation.
77 citations
,
February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
8 citations
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April 2024 in “Psychoneuroendocrinology” January 2026 in “JCEM Case Reports” This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.
July 2023 in “Clinical, cosmetic and investigational dermatology” This case report described a 32-year-old woman with plica neuropathica who was diagnosed with schizophrenia after initially seeking dermatological care for her severely matted hair, illustrating a rare presentation of schizophrenia and the importance of considering psychiatric conditions in such cases.
October 2020 in “The American journal of gastroenterology” This case study reports a previously undescribed cause of drug-induced autoimmune hepatitis triggered by para-aminobenzoic acid (PABA), emphasizing the need for caution with this supplement.
4 citations
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August 2006 in “The Journal of Dermatology” This case report describes the first known association of hypertrichosis lanuginosa acquisita with autoimmune hepatitis, expanding the list of conditions linked to this rare disorder.
January 2023 in “Skin appendage disorders” This article describes two cases of plica neuropathica, a rare hair condition involving severe matting, and discusses possible contributing factors and diagnosis methods while reporting no new scientific results.
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.
39 citations
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January 2008 in “World Journal of Gastroenterology” This report documents the first known case of acute inflammatory demyelinating polyneuropathy potentially linked to pegylated interferon-alpha 2a in a woman undergoing treatment for chronic hepatitis C.
April 2020 in “Journal of the Endocrine Society” This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.
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.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.
13 citations
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February 2024 in “Clinical Cosmetic and Investigational Dermatology” This study demonstrated that intradermal treatment with a medical device using Polynucleotides High Purification Technology (PN HPT) significantly improved skin surface, firmness, pigmentation, and radiance in 30 Asian subjects, with benefits lasting up to six months and no adverse events reported.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
2 citations
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February 2000 in “International Journal of Dermatology” This article presents four case reports of men with porphyria cutanea tarda and hepatitis C, highlighting associations with polysubstance abuse, primarily alcohol.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” This case report found that a patient with cutaneous polyarteritis nodosa experienced rare and severe manifestations, including digital gangrene and a breast ulcer, requiring aggressive treatment and resulting in below-knee amputation.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
January 2025 in “Case Reports in Medicine” In this case study, a diagnosis of HAIR-AN syndrome, a rare form of polycystic ovarian syndrome, was made in a 17-year-old female with hyperandrogenism, insulin resistance, and acanthosis nigricans, but genetic screening revealed no significant mutations linked to her symptoms.
January 2016 in “프로그램북(구 초록집)” This study found that the revised BASP classification for pattern hair loss, which addresses certain limitations of the original, could serve as an alternative option despite a decrease in clinical accuracy and ease of use.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
October 2018 in “The American journal of gastroenterology” This case study highlights the importance of early detection and management of pembrolizumab-induced hepatitis, suggesting that early steroid treatment could potentially prevent severe complications.
This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
24 citations
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January 2004 in “The scientific world journal/TheScientificWorldjournal” This study found that HAIR-AN syndrome is prevalent among young women, and a multifaceted treatment approach effectively reduces symptom severity and prevents further consequences.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
2 citations
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June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
49 citations
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January 2010 in “International Journal of Pediatric Endocrinology” This review covers the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to P450c21, but it reports no new clinical results.