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Brachioradialis tendon transfer and palmaris longus tendon graft for thumb avulsion:A case report and review of literature

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World Journal of Clinical Cases 2025年第4期13卷 48-55页

作者： Pierre Curings sonia ramos-Pascual Kinga Michalewska Nicolas Gibert Lionel Erhard Mo Saffarini AlexisNogier Department of Hand Surgery Clinique TrenelSainte-Colombe 69560France Medical Research ReSurg SANyon 1260VaudSwitzerland Department of Hand Surgery Hand and Upper Limb Surgical InstituteVilleurbanne 69100France Department of Orthopaedics Clinique TrenelSainte-Colombe 69560France

BACKGROUND Thumb replantation following complete traumatic avulsion requires complex techniques to restore function,especially in cases of avulsion at the level of the metacarpophalangeal joint(MCP I)and avulsion of the flexor pollicis longus(FPL)at the musculotendinous *** treatments include direct tendon suture or tendon transfer,most commonly from the ring *** optimize function and avoid donor finger complications,we performed thumb replantation with flexion restoration using brachioradialis(BR)tendon transfer with palmaris longus(PL)tendon *** SUMMARY A 20-year-old left-handed male was admitted for a complete traumatic left thumb amputation following an accident while sliding from the top of a *** patient presented with skin and bone avulsion at the MCP I,avulsion of the FPL tendon at the musculotendinous junction(zone 5),avulsion of the extensor pollicis longus tendon(zone T3),and avulsion of the thumb’s collateral arteries and *** patient was treated with two stage thumb *** first intervention consisted of thumb replantation with MCP I arthrodesis,resection of avulsed FPL tendon and implantation of a silicone tendon *** second intervention consisted of PL tendon graft and BR tendon ***-up at 10 months showed good outcomes with active interphalangeal flexion of 70°,grip strength of 45 kg,key pinch strength of 15 kg and two-point discrimination threshold of 4 *** Flexion restoration after complete thumb amputation with FPL avulsion at the musculotendinous junction can be achieved using BR tendon transfer with PL tendon graft.

关键词： Brachioradialis tendon transfer Flexor pollicis longus Palmaris longus tendon graft Replantation Thumb amputation Thumb avulsion Case report

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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

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Open Journal of Genetics 2018年第4期8卷 91-100页

作者： Filipa Ferreira Ines Leal David Sousa Teresa Costa Conceicao Mota Ana Marta Gomes Daniela Lopes Maria do Carmo Macario Isabel Tavares Helena Pinto Joao Paulo Oliveira Rita Magrico Celia Carmona sonia ramos Raquel Neiva Ana Marcao Laura Vilarinho Newborn Screening Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Centro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Centro Hospitalar Universitario do Porto PortoPortugal Centro Hospitalar Vila Nova de Gaia EspinhoPortugal Centro Hospitalar Universitario de Coimbra CHUCCoimbraPortugal Servico de Genetica Medica Centro Hospitalar de Sao JoaoPortoPortugal Unidade de Genetica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de Investigacao e Inovacao em Saude PortoPortugal Servico de Nefrologia do Hospital Garcia de Orta AlmadaPortugal Research and Development Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22;45.5%), and other five were compound heterozygous for this variant (15/22;68.2%). The other mutations found were p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21delGACT (p.T7FfsX7;1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

关键词： Cystinosis CTNS Gene Mutational Spectrum Kidney Failure 57-kb Deletion

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Genome-based nutrition:An intervention strategy for the prevention and treatment of obesity and nonalcoholic steatohepatitis

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World Journal of Gastroenterology 2015年第12期21卷 3449-3461页

作者： sonia Roman Claudia Ojeda-Granados Omar ramos-Lopez Arturo Panduro Department of Molecular Biology in Medicine Civil Hospital of Guadalajara "Fray Antonio Alcalde"GuadalajaraJalisco Mexico and Health Sciences Center University of Guadalajara

Obesity and nonalcoholic steatohepatitis are increasing in westernized countries, regardless of their geographiclocation. In Latin America, most countries, including Mexico, have a heterogeneous admixture genome with Amerindian, European and African ancestries. However, certain high allelic frequencies of several nutrientrelated polymorphisms may have been achieved by past gene-nutrient interactions. Such interactions may have promoted the positive selection of variants adapted to regional food sources. At present, the unbalanced diet composition of the Mexicans has led the country to a 70% prevalence rate of overweightness and obesity due to substantial changes in food habits, among other factors. International guidelines and intervention strategies may not be adequate for all populations worldwide because they do not consider disparities in genetic and environmental factors, and thus there is a need for differential prevention and management strategies. Here, we provide the rationale for an intervention strategy for the prevention and management of obesity-related diseases such as nonalcoholic steatohepatitis based on a regionalized genome-based diet. The components required to design such a diet should focus on the specific ancestry of each population around the world and the convenience of consuming traditional ethnic food.

关键词： Latin America Mexico Gene-nutrient interactions Ev

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Genetic, metabolic and environmental factors involved in the development of liver cirrhosis in Mexico

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World Journal of Gastroenterology 2015年第41期21卷 11552-11566页

作者： Omar ramos-Lopez Erika Martinez-Lopez sonia Roman Nora A Fierro Arturo Panduro Department of Molecular Biology in Medicine Civil Hospital of Guadalajara "Fray Antonio Alcalde" Guadalajara Jalisco Mexico and Health Sciences Center University of Guadalajara

Liver cirrhosis(LC) is a chronic illness caused by inflammatory responses and progressive fibrosis. Globally, the most common causes of chronic liver disease include persistent alcohol abuse, followed by viral hepatitis infections and nonalcoholic fatty liver disease. However, regardless of the etiological factors, the susceptibility and degree of liver damage may be influenced by genetic polymorphisms that are associated with distinct ethnic and cultural backgrounds. Consequently, metabolic genes are influenced by variable environmental lifestyle factors, such as diet, physical inactivity, and emotional stress, which are associated with regional differences among populations. This Topic Highlight will focus on the genetic and environmental factors that may influence the metabolism of alcohol and nutrients in the setting of distinct etiologies of liver disease. The interaction between genes and environment in the current-day admixed population, Mestizo and Native Mexican, will be described. Additionally, genes involved in immune regulation, insulin sensitivity, oxidative stress and extracellular matrix deposition may modulate the degree of severity. In conclusion, LC is a complex disease. The onset, progression, and clinical outcome of LC among the Mexican population are influenced by specific genetic and environmental factors. Among these are an admixed genome with a heterogenic distribution of European, Amerindian and African ancestry; a high score of alcohol consumption; viral infections; a hepatopathogenic diet; and a high prevalence of obesity. The variance in risk factors among populations suggests that intervention strategies directed towards the prevention and management of LC should be tailored according to such population-based features.

关键词： Genomic medicine Polymorphisms Viral hepatitis Obe

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CD36 genetic variation, fat intake and liver fibrosis in chronic hepatitis C virus infection

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World Journal of Hepatology 2016年第25期8卷 1067-1074页

作者： Omar ramos-Lopez sonia Roman Erika Martinez-Lopez Nora A Fierro Karina Gonzalez-Aldaco Alexis Jose-Abrego Arturo Panduro Department of Molecular Biology in Medicine Civil Hospital of Guadalajara "Fray Antonio Alcalde" Health Sciences University Center University of Guadalajara

AIM To analyze the association of the CD36 polymorphism(rs1761667) with dietary intake and liver fibrosis(LF) in chronic hepatitis C(CHC) patients. METHODS In this study, 73 patients with CHC were recruited. The CD36 genotype(G > A) was determined by a TaqM an real-time PCR system. Dietary assessment was carried out using a three-day food record to register the daily intake of macronutrients. Serum lipids and liver enzymes were measured by a dry chemistry assay. LF evaluated by transient elastography(Fibroscan~)and APRI score was classified as mild LF(F1-F2) and advanced LF(F3-F4).RESULTS Overall, the CD36 genotypic frequencies were AA(30.1%), AG(54.8%), and GG(15.1%), whereas the allelic A and G frequencies were 57.5% and 42.5%, respectively. CHC patients who were carriers of the CD36 AA genotype had a higher intake of calories attributable to total fat and saturated fatty acids than those with the non-AA genotypes. Additionally, aspartate aminotransferase(AST) serum values were higher in AA genotype carriers compared to non-AA carriers(91.7 IU/L vs 69.8 IU/L, P = 0.02). Moreover, the AA genotype was associated with an increase of 30.23 IU/L of AST(β = 30.23, 95%CI: 9.0-51.46, P = 0.006). Likewise, the AA genotype was associated with advanced LF compared to the AG(OR = 3.60, 95%CI: 1.16-11.15, P = 0.02) or AG + GG genotypes(OR = 3.52, 95%CI: 1.18-10.45, P = 0.02).CONCLUSION This study suggests that the CD36(rs1761667) AA genotype is associated with higher fat intake and more instances of advanced LF in CHC patients.

关键词： Hepatitis C virus infection CD36 receptor Lipids Liver fibrosis Mexico

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Structural Factors of Annonaceous Acetogenins and Their Semisynthetic Analogues Related with the Toxicity on Spodoptera frugiperda

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Journal of Agricultural Chemistry and Environment 2015年第2期4卷 56-61页

作者： Lilian Di Toto Blessing Florencia Budeguer Juan ramos Alicia Bardón sonia Diaz Margarita Brovetto Gustavo Seoane Adriana Neske Instituto de Química Orgánica Facultad de Bioquímica Química y Farmacia Universidad Nacional de Tucumán Ayacucho Argentina Instituto de Química Física Facultad de Bioquímica Química y Farmacia Universidad Nacional de Tucumán Ayacucho Argentina INQUINOA-CONICET Tucumán Argentina Dpto de Química Orgánica Fac de Química UdelaR Montevideo Uruguay

Toxic and nutritional effects of annonaceous acetogenins and their semisynthetic analogues on Spodoptera frugiperda were evaluated. Structural modification of the natural ACG, blocking the OH flanking THF with MOM, allowed us to suggest the mode of action of ACG in the membrane. Our study emphasizes the role of the flanking OH and acetyl groups of THF with the membrane hydrophilic polar head groups. They are essential structural factors in the ACG that facilitate the intermolecular interaction that dehydrates the membrane and makes it potentially toxic against Spodoptera frugiperda.

关键词： Annonaceous Acetogenins Polyphagous Lepidopteran Toxicity Nutritional Alterations

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