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Introduction: Transdermal laser is an option for varicous veins treatment, yet it may be painful. In this study, we will present a technique for performing tumescent anesthesia associated to transdermal laser (TTL) to reduce pain during treatment., Objective: The study compares pain during treatment of telangiectasias in lower limb with and without tumescent anesthesia to offer a less painful procedure., Methods: 50 CEAP C1 patients with bilateral telangiectasias on thighs underwent transdermal laser treatment, using tumescent anesthesia on one side and standard technique on the other. Pain was assessed via the Visual Analogue Scale. The outcomes were compared with Student's t-test. Significance was set at p < .05., Results: Laser treatment without tumescent anesthesia resulted in a VAS pain score of 7.9, versus 0.0 with anesthesia, showing a significant statistical difference., Conclusion: Tumescent anesthesia and transdermal laser (TTL) is capable of reducing pain in laser treatment of telangiectasias and reticular veins., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: To verify the prevalence and factors associated with Non-Alcoholic Fatty Liver Disease (NAFLD) among women with Polycystic Ovary Syndrome (PCOS)., Methods: A cross-sectional study was conducted with 53 patients with PCOS. The diagnosis of PCOS followed the Rotterdam criteria. The diagnosis of NAFLD was made through US showing hepatic steatosis, excluding significant alcohol consumption and chronic liver disease. The following variables were compared between the groups of women with and without NAFLD: age, race, anthropometric data, blood pressure levels, liver enzymes, glycemic and lipid profiles, total testosterone, presence of hirsutism, and metabolic syndrome (MS). Variables were compared between the groups using T-test, Mann-Whitney, and Chi-square tests., Results: Among 53 patients with PCOS, 50.9% had NAFLD. The NAFLD group had higher weight (p=0.003), BMI (p=0.001), waist circumference (p≤0.001), fasting glucose (p=0.021), HbA1C% (p=0.028), triglycerides (p=0.023), AST (p=0.004), ALT (p=0.001), higher prevalence of MS (p=0.004), and lower levels of HDL cholesterol (p=0.043). The other variables did not differ between the groups. Both groups were predominantly of caucasian race, and there was no significant difference in age., Conclusion: The prevalence of NAFLD among patients with PCOS was 50.9%. Metabolic and hepatic enzyme abnormalities were more prevalent in this group compared to the group without the disease. Obesity tripled the prevalence of NAFLD., Competing Interests: Conflicts to interest: none to declare., (© 2024. Federação Brasileira de Ginecologia e Obstetrícia. All rights reserved.)

We aimed to present a case of two mesocolonic hydatid cysts that mimicked the presentation of peritoneal pseudomyxoma. Hydatidosis is a zoonotic parasitic infection caused by the cestode Echinococcus spp., whose larval stage affects various organs. The present case describes a 40-year-old male patient who presented with severe lower abdominal pain and was diagnosed with acute appendicitis. The patient underwent an appendectomy and was later referred to an oncology surgery clinic because of imaging findings suggestive of peritoneal pseudomyxoma or carcinomatosis. A video-assisted laparoscopic procedure revealed two cysts and microscopic findings confirmed hydatid cysts. The patient was from a hydatidosis-endemic region of southern Brazil. This case highlights the diagnostic challenges and the need for a multidisciplinary approach and careful histopathological analysis in patients with complex abdominal conditions. This also demonstrates the importance of disseminating knowledge about this condition and its management., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Inc.)

Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is one of the most common hereditary peripheral neuropathies caused by duplication of 1.5 Mb genome region including PMP22 gene. We aimed to correct the duplication in human CMT1A patient-derived iPS cells (CMT1A-iPSCs) by genome editing and intended to analyze the effect on Schwann cells differentiated from CMT1A-iPSCs., Methods: We designed multiple gRNAs targeting a unique sequence present at two sites that sandwich only a single copy of duplicated peripheral myelin protein 22 (PMP22) genes, and selected one of them (gRNA3) from screening their efficiencies by T7E1 mismatch detection assay. AAV2-hSaCas9-gRNAedit was generated by subcloning gRNA3 into pX601-AAV-CMV plasmid, and the genome editing AAV vector was infected to CMT1A-iPSCs or CMT1A-iPSC-derived Schwann cell precursors. The effect of the genome editing AAV vector on myelination was evaluated by co-immunostaining of myelin basic protein (MBP), a marker of mature myelin, and microtubule-associated protein  2(MAP2), a marker of neurites or by electron microscopy., Results: Here we show that infection of CMT1A-iPS cells (iPSCs) with AAV2-hSaCas9-gRNAedit expressing both hSaCas9 and gRNA targeting the tandem repeat sequence decreased PMP22 gene duplication by 20-40%. Infection of CMT1A-iPSC-derived Schwann cell precursors with AAV2-hSaCas9-gRNAedit normalized PMP22 mRNA and PMP22 protein expression levels, and also ameliorated increased apoptosis and impaired myelination in CMT1A-iPSC-derived Schwann cells., Conclusions: In vivo transfer of AAV2-hSaCas9-gRNAedit to peripheral nerves could be a potential therapeutic modality for CMT1A patient after careful examinations of toxicity including off-target mutations., (© 2023. The Author(s).)

DNA damage and repair is a critical domain of many neurodegenerative diseases. In this study, we focused on RpA1, a candidate key molecule in polyQ disease pathologies, and tested the therapeutic effect of adeno-associated virus (AAV) vector expressing RpA1 on mutant Ataxin-1 knock-in (Atxn1-KI) mice. We found significant effects on motor functions, normalized DNA damage markers (γH2AX and 53BP1), and improved Purkinje cell morphology; effects that lasted for 50 weeks following AAV-RpA1 infection. In addition, we confirmed that AAV-RpA1 indirectly recovered multiple cellular functions such as RNA splicing, transcription and cell cycle as well as abnormal morphology of dendrite and dendritic spine of Purkinje cells in Atxn1-KI mice. All these results suggested a possibility of gene therapy with RpA1 for SCA1.

We identified drug seeds for treating Huntington's disease (HD) by combining in vitro single molecule fluorescence spectroscopy, in silico molecular docking simulations, and in vivo fly and mouse HD models to screen for inhibitors of abnormal interactions between mutant Htt and physiological Ku70, an essential DNA damage repair protein in neurons whose function is known to be impaired by mutant Htt. From 19,468 and 3,010,321 chemicals in actual and virtual libraries, fifty-six chemicals were selected from combined in vitro-in silico screens; six of these were further confirmed to have an in vivo effect on lifespan in a fly HD model, and two chemicals exerted an in vivo effect on the lifespan, body weight and motor function in a mouse HD model. Two oligopeptides, hepta-histidine (7H) and Angiotensin III, rescued the morphological abnormalities of primary neurons differentiated from iPS cells of human HD patients. For these selected drug seeds, we proposed a possible common structure. Unexpectedly, the selected chemicals enhanced rather than inhibited Htt aggregation, as indicated by dynamic light scattering analysis. Taken together, these integrated screens revealed a new pathway for the molecular targeted therapy of HD.