Steatocystoma Multiplex

Last update 01 Nov 2024

Basic Info

Synonyms

Cyst, Multiple Sebaceous, Cysts, Multiple Sebaceous, Hereditary epidermal polycystic disease

+ [22]

Introduction

A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex.

100 Clinical Results associated with Steatocystoma Multiplex

100 Translational Medicine associated with Steatocystoma Multiplex

0 Patents (Medical) associated with Steatocystoma Multiplex

910

Literatures (Medical) associated with Steatocystoma Multiplex

01 Nov 2024·Journal Français d'Ophtalmologie

Multiple eyelid epidermal inclusion cysts

Article

Author: Berhuni, M ; Berhuni, M.

01 Oct 2024·Journal of Clinical Neuroscience

Innovative solutions? Belzutifan therapy for hemangioblastomas in Von Hippel-Lindau disease: A systematic review and single-arm meta-analysis

Review

Author: Dias Polverini, Allan ; Fim Andreão, Filipi ; Camerotte, Raphael ; Bertani, Raphael ; Vieira Nogueira, Bernardo ; Canto Gomes, Gisele Lúcia ; Pari Mitre, Lucas ; Ferreira, Márcio Yuri ; Palavani, Lucca B ; Coelho Nogueira de Castro, Wilson ; Batista, Sávio ; Fabrini Paleare, Luis F ; Oliveira, Leonardo B

BACKGROUNDVon Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder that predisposes patients to develop multiple cysts and tumors, such as hemangioblastomas (HBs) and clear cell renal cell carcinoma (ccRCC), due to mutations in the VHL tumor suppressor gene. While treatment of HBs varies based on their characteristics and has improved patient survival, it still involves high morbidity and mortality, leading to ongoing debates and studies to refine therapy strategies. Recent developments include the emergence of Belzutifan, a novel inhibitor targeting hypoxia-inducible factor 2α (HIF-2α), which has shown promising results in ongoing trials, particularly for patients not immediately requiring surgery.METHODSThis systematic review and meta-analysis aimed to comprehensively evaluate the efficacy and safety of Belzutifan for treating HBs associated with VHL disease. Search was conducted across Medline, Embase, Cochrane, and Web of Science databases. Statistical Analysis was performed, with proportions and 95 % confidence intervals. Statistical analyses were carried out using R Studio.RESULTSTen studies were selected, comprising 553 patients. The population mean age was 40 (24-65), and 50 % of the population was formed by males. In terms of proportion, 6 analyses were performed: Disease Stability of 31 % [95 %CI:14 %-47 %; I2 = 2 %]; Disease Progression of 2 %[95 %CI:0 %-9 %; I2 = 0 %]; Partial Response of 75 % [95 %CI:54 %-96 %; I2 = 58 %]. Complete response of 1 % [95 %CI:0 %-7 %; I2 = 0 %];and Side effects, anemia 81 % rate [95 % CI:54 %-100 %; I2 = 94 %], and fatigue rate of 79 % [95 % CI:54 %-100 %;I2 = 94 %].CONCLUSIONResults indicate that Belzutifan effectively stabilizes disease, reduces tumor progression, and achieves significant therapeutic responses, although side effects like anemia and fatigue were noted.

01 Aug 2024·Bioelectrochemistry

Label-Free detection of Poly-Cystic Ovarian Syndrome using a highly conductive 2-D rGO/MoS2/PANI nanocomposite based immunosensor

Article

Author: Ghosh, Sumanta ; Mohan, Keerthana ; Kapusetti, Govinda ; Velyutham, Ravichandiran ; Sarath Babu, Srivalliputtur ; Hari Gupta, Gourang

Polycystic ovarian syndrome (PCOS) is an endocrinal disorder characterized by multiple tiny cysts, amenorrhea, dysmenorrhea, hirsutism, and infertility. The current diagnostic tools comprise of expensive, time-consuming ultrasonography to serological test, which have low patient compliance. To address these limitations, we have developed a highly sensitive, cost effective and ultrafast immunosensor for the diagnosis of PCOS. Herein, we have fabricated a 2-D electro conductive composites of reduced Graphene oxide (rGO), Molybdenum disulfide (MoS₂), and Polyaniline (PANI) as electrode material. Furthermore, for detecting an early and non-cyclic biomarker of PCOS, i.e. anti-Mullerian hormone (AMH). We utilize the specific antigen-antibody mechanism, in which monoclonal Anti-AMH antibodies were covalently immobilized using EDC-NHS chemistry on electrode. The developed biosensor was physicochemical and electrochemically characterized to demonstrate its efficiency. Further we have investigated the biosensor's performance with Cyclic Voltammetry, Differential Pulse Voltammetry, and Electrochemical Impedance Spectroscopy. We have validated that under the optimized condition the immunosensor exhibits higher sensitivity with a LOD of ∼ 2.0 ng/mL with a linear range up to 100 ng/mL. Furthermore, this immunosensor works efficiently with a lower sample volume (>5 μL), which provides a sensitive, reproducible, low-cost, rapid analysis to detect AMH level in PCOS diagnosis.

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