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1.
Hand Surg Rehabil ; 39(3): 159-166, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32278932

RESUMO

The emergence of the COVID-19 pandemic has severely affected medical treatment protocols throughout the world. While the pandemic does not affect hand surgeons at first glance, they have a role to play. The purpose of this study was to describe the different measures that have been put in place in response to the COVID-19 pandemic by hand surgeons throughout the world. The survey comprised 47 surgeons working in 34 countries who responded to an online questionnaire. We found that the protocols varied in terms of visitors, health professionals in the operating room, patient waiting areas, wards and emergency rooms. Based on these preliminary findings, an international consensus on hand surgery practices for the current viral pandemic, and future ones, needs to be built rapidly.


Assuntos
Infecções por Coronavirus/prevenção & controle , Mãos/cirurgia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Padrões de Prática Médica/organização & administração , Prática Profissional/organização & administração , COVID-19 , Infecções por Coronavirus/transmissão , Pesquisas sobre Atenção à Saúde , Humanos , Internacionalidade , Internet , Pneumonia Viral/transmissão , Padrões de Prática Médica/normas , Prática Profissional/normas
2.
Hand Surg Rehabil ; 38(5): 302-306, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31398489

RESUMO

External fixators are an effective treatment option for comminuted or unstable phalangeal fractures. We developed a new linked-wire type of external fixator (the Ichi-Fixator) for finger phalangeal fractures, which enables fine adjustment of the fixation under fluoroscopy guidance either in a static way or with distraction through small screws inside the fixator. This technique was designed to improve on the stability and rigidity of conventional percutaneous Kirchner wire fixation. We assessed the effectiveness of the fixator through 12 cases of open or percutaneous fixation in comminuted or unstable phalangeal fractures. All patients were examined for postoperative complications, functional recovery, pain on visual analog scale (VAS), and the Quick Disabilities of the Arm, Shoulder, and Hand (QuickDASH) score at the final follow-up visit. Patients could perform all routine activities with normal grip strength and a full range of hand motion without pain after treatment. This treatment, which reduces the postoperative discomfort and may allow an immediate return to work, will clearly boost patient satisfaction. Linked-wire type external fixation enhances the security of fixation, facilitates postoperative mobilization, and may allow an immediate return to work.


Assuntos
Fixadores Externos , Falanges dos Dedos da Mão/cirurgia , Fraturas Cominutivas/cirurgia , Adolescente , Adulto , Avaliação da Deficiência , Desenho de Equipamento , Feminino , Falanges dos Dedos da Mão/lesões , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recuperação de Função Fisiológica , Escala Visual Analógica , Adulto Jovem
3.
J Hand Surg Eur Vol ; 42(2): 165-169, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27474502

RESUMO

The goal of this study was to establish a reproducible protocol to measure active extension strength in the index finger. The secondary objectives consisted in correlating the independent or associated index extension strength to the other fingers force of contraction of the extensor indicis propius with hand dominance. The population studied consisted of 24 healthy volunteers, including 19 women and 20 right-handed individuals. The independent and dependent index extension strength in each hand was measured three times with a dynamometer by three examiners at Day 0 and again at Day 7. Intra and inter-examiner reproducibility were, respectively, >0.90 and >0.75 in all cases. The independent extension strength was lower than the dependent one. There was no difference between the independent index extension strength on the dominant and non-dominant sides. The same was true for the dependent strength. Our results show that our protocol is reproducible in measuring independent and dependent index extension strength. Dominance did not come into account. LEVEL OF EVIDENCE: II.


Assuntos
Dedos , Força Muscular/fisiologia , Adulto , Protocolos Clínicos , Feminino , Lateralidade Funcional/fisiologia , Humanos , Masculino , Músculo Esquelético/fisiologia , Estudos Prospectivos , Amplitude de Movimento Articular/fisiologia , Valores de Referência , Reprodutibilidade dos Testes
5.
Hand Surg Rehabil ; 35S: S80-S85, 2016 12.
Artigo em Francês | MEDLINE | ID: mdl-27890217

RESUMO

Minimally invasive plate osteosynthesis (MIPO) has been used in recent years to treat fractures of the distal radius with volar locking plates. Its advantages are the preservation of the pronator quadratus and good esthetics. The MIPO technique was described originally with two incisions: one distal transverse or longitudinal incision and one proximal longitudinal incision. The trend is now to use a single longitudinal incision less than 20mm long. Functional and radiological outcomes are comparable to those of conventional techniques. The MIPO technique is indicated for extra-articular and intra-articular fractures. Arthroscopy may be used concurrently in the latter case. When the distal radius fracture is associated with a proximal shaft fracture, a double incision is needed to introduce a longer plate. The relative contraindications of the MIPO technique are comminuted intra-articular fractures in osteoporotic elderly patients. If reduction is problematic, a larger incision can easily be made.


Assuntos
Placas Ósseas , Fixação Interna de Fraturas/métodos , Fraturas do Rádio/cirurgia , Contraindicações de Procedimentos , Fraturas Cominutivas , Humanos , Fraturas Intra-Articulares/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos , Resultado do Tratamento
6.
Orthop Traumatol Surg Res ; 101(8): 983-6, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26545943

RESUMO

Bone remodeling commonly occurred after fracture and curettage benign bone tumor. A lot of previous articles reported "internal" trabecular bone remodeling. There were no previous clinical reports about "external" cortical bone remodeling. We present here 2 clinical cases of "external" bone remodeling after injectable calcium-phosphate in benign bone tumor in the hand. In two cases of benign bone tumor, we performed complete removal of the tumor and immediate filling of the metacarpal bone with injectable calcium-phosphate cement Arexbone(®) from the mechanical viewpoint. With respect to the shape of the calcium-phosphate, by using an injection-type, calcium-phosphate is adhered uniformly to the bone cortex by injecting, remodeling has been promoted. After 5 and 8years, both cases were no recurrences, and the shape of the metacarpal looked close to the contralateral side. These findings supposed to be concerned with potential self-healing and self-protection mechanism in human body.


Assuntos
Cimentos Ósseos , Neoplasias Ósseas/cirurgia , Remodelação Óssea , Fosfatos de Cálcio/administração & dosagem , Adulto , Osso e Ossos , Cálcio , Curetagem , Feminino , Mãos , Humanos , Masculino , Ossos Metacarpais , Pessoa de Meia-Idade , Recidiva Local de Neoplasia
7.
Chir Main ; 34(6): 307-11, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26603368

RESUMO

In 2011, we reported good results after a mean follow-up of 14 months for a series of 25 patients who underwent thumb carpometacarpal osteoarthritis surgery in which a poly-L-lactic acid implant was interposed arthroscopically. The aim of this study was to evaluate the outcomes after a longer follow-up. The new series consisted of 26 patients, whose average age was 60 years, operated with arthroscopy for the interposition of an implant made of poly-L-lactic acid in 12 cases and tendon interposition in 14 cases. After an average follow-up of 20 months, the pain assessed with a visual analog scale was on average 6.61/10 before surgery and 6.03/10 after, the QuickDASH score was 56.36/100 before and 53.65/100 after, grip strength was 15.34kg before and 12.8kg after, pinch strength was 3.7kg before and 2.18kg after, Kapandji thumb opposition score was 8.96/10 before and 8.26/10 after. The radiological stage did not change. We noted one case of type 1 complex regional pain syndrome and 12 poor results, 11 of which were reoperated by trapeziectomy. Given our results and the lack of published studies with a high level of evidence, the value of isolated arthroscopy with interposition in the surgical treatment of thumb carpometacarpal osteoarthritis remains to be demonstrated.


Assuntos
Artroplastia de Substituição , Artroscopia/métodos , Articulações Carpometacarpais/cirurgia , Osteoartrite/cirurgia , Polegar/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Avaliação da Deficiência , Feminino , Seguimentos , Força da Mão , Humanos , Prótese Articular , Ácido Láctico , Masculino , Pessoa de Meia-Idade , Poliésteres , Polímeros , Estudos Retrospectivos , Tendões/cirurgia , Escala Visual Analógica
8.
Orthop Traumatol Surg Res ; 101(8): 969-71, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26498881

RESUMO

We report a case of 74-year-old man in whom a unicompartmental isoelastic resurfacing prosthesis was used to reconstruct the distal radius after en-bloc resection of a malignant tumor. Thirty-nine months after the operation, on a visual analogic scale, pain score was 0/10 and range of motion was 25° of flexion, 5° of extension, 70° of pronation, 45° of supination, 20° of radial deviation, and 30° of ulnar deviation. The Quick DASH functional score was 72.72/100. With radiographic finding, the prosthesis was well-aligned, with no evidence of loosening but with slightly implant conflict with the lunate. This case report indicates that unicompartmental isoelastic resurfacing prosthesis seems a simple and reliable technique for distal radius reconstruction after en-bloc resection of malignant tumor.


Assuntos
Adenocarcinoma/cirurgia , Neoplasias Ósseas/cirurgia , Próteses e Implantes , Rádio (Anatomia)/cirurgia , Articulação do Punho/fisiopatologia , Articulação do Punho/cirurgia , Adenocarcinoma/secundário , Idoso , Artralgia/etiologia , Neoplasias Ósseas/secundário , Seguimentos , Humanos , Masculino , Neoplasias , Medição da Dor , Pronação , Fraturas do Rádio/cirurgia , Amplitude de Movimento Articular , Procedimentos de Cirurgia Plástica , Supinação , Escala Visual Analógica
9.
Chir Main ; 34(5): 251-5, 2015 Oct.
Artigo em Francês | MEDLINE | ID: mdl-26411282

RESUMO

The aim of this work was to identify the websites of the members of the French Society for Hand Surgery, examine the container and the content, and propose a common code of ethics. The census of Websites of the French Society for Hand Surgery Internet members was obtained through a survey questionnaire with 17 items online on the mode of exercise of the surgeon and the website itself. Forty-six out of 568 members of the SFCM responded to the questionnaire: 9 junior members, 6 associate members and 31 full members. A total of 12.5 % had the HONcode certification. They included educational materials for patients in 80.95 % of non-urgent conditions, and 68.42 % of emergency. Answers to questions about attendance and the cost of maintenance of websites were unusable. It would be interesting to create a specific code of ethics for hand surgery, free, certified by the SFCM, in partnership with the High Authority in Health (HAS, in French).


Assuntos
Mãos/cirurgia , Internet , Ortopedia , Sociedades Médicas , França , Humanos , Internet/estatística & dados numéricos , Inquéritos e Questionários
10.
Chir Main ; 34(4): 186-92, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26159579

RESUMO

The mechanical properties of nerve guide tubes must be taken into consideration when they are being developed. We previously reported the feasibility of using 50:50 tubes in a canine 40mm peroneal nerve defect model, where 50:50 represents the proportion of poly(L-lactic) acid (PLLA) and polyglycolic acid (PGA). The aim of the current study was to show that 50:50 tubes have suitable mechanical properties for repairing long nerve defects. Four types of nerve guide tubes made with PLLA to PGA fiber ratios of 100:0 (i.e. 100% PLLA) (100:0 tube), 50:50 (50:50 tube), 10:90 (10:90 tube), and 0:100 (0:100 tube) were designed and created using a tubular braiding machine. Their mechanical properties were examined in vitro (up to 16 weeks). In compression testing, 50:50 tubes had the highest normalized force value, followed in order by the 100:0, 10:90, and 0:100 tubes up to 8 weeks after immersion. From the point of view of biomechanics and bioresorbability, out of the 4 tube types tested, 50:50 tubes appeared to have the optimal mechanical properties for longer nerve defects.


Assuntos
Implantes Absorvíveis , Materiais Biocompatíveis , Nervos Periféricos/cirurgia , Fenômenos Biomecânicos , Teste de Materiais , Procedimentos Neurocirúrgicos/instrumentação , Procedimentos Neurocirúrgicos/métodos , Ácido Poliglicólico , Desenho de Prótese
11.
Lett Appl Microbiol ; 61(3): 267-73, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26031479

RESUMO

UNLABELLED: Enterohemorrhagic Escherichia coli O157 (O157) strains can be classified in clades by single nucleotide polymorphisms (SNPs), but this analysis requires significant laboratory effort. As the distribution of insertion sequence (IS) 629 insertions has been reported to be biased among different clades, O157 isolates can be putatively classified in clades by comparison with an IS629 distribution database. A database of the IS629 distribution in O157 strains isolated in Chiba Prefecture and their classification in clades was determined by SNP analysis and IS-printing, an easy and quick analytical tool for IS629 in the O157 genome. The IS629 distribution in O157 strains isolated in Fukuoka and Yamagata Prefectures was determined by IS-printing. These strains were putatively classified in clades by Relative Likelihood calculations that compared the IS-printing data and the IS629 distribution database. Concordance Ratios were calculated, which compared the number of strains putatively classified in a clade by Relative Likelihood to the number of strains classified in that clade by SNP analysis. For the Fukuoka and Yamagata strains, the Concordance Ratios for clades 3, 6 and 8 were 97-100%, for clade 7 about 88%, and for clades 2 and 12 over 90%. In conclusion, O157 clade 2, 3, 6, 7, 8 and 12 strains could be putatively classified by IS-printing. SIGNIFICANCE AND IMPACT OF THE STUDY: This study demonstrated that enterohemorrhagic E. coli O157 (O157) strains could be putatively classified in clades using an IS-printing system. IS-printing was previously developed as a relatively quick and easy tool for analysis of insertion sequence 629 in the O157 genome. Since most local government public health institutes in Japan carry out IS-printing for early detection of O157 outbreaks, these data should be useful for putative classification of O157 strains in each area.


Assuntos
Elementos de DNA Transponíveis/genética , Infecções por Escherichia coli/epidemiologia , Escherichia coli O157/classificação , Surtos de Doenças/prevenção & controle , Escherichia coli O157/genética , Escherichia coli O157/isolamento & purificação , Humanos , Japão , Reação em Cadeia da Polimerase Multiplex/métodos , Polimorfismo de Nucleotídeo Único
12.
Chir Main ; 34(3): 105-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25960060

RESUMO

The goal of this study was to compare the advantages and disadvantages of horizontal versus vertical traction by reviewing a small series of metacarpophalangeal (MCP) joint arthroscopy in the fingers other than the thumb. Our series included eight patients operated with traction placed along the axis of the operated finger. In four cases, traction was applied horizontally and in the other four, it was applied vertically. Arthroscopy was performed using dorsomedial and dorsoradial portals. The fluoroscopy unit was placed either vertically or horizontally as required. The average duration of patient set-up was 17.75min in the horizontal traction group and 32min in the vertical traction group. The average tourniquet time was 56.75min in the horizontal traction group and 71min in the vertical traction group. Horizontal traction required an additional procedure that can potentially compromise surgical asepsis. Vertical traction was less comfortable for the surgeon and horizontal placement of the fluoroscope increased the risk of compromised asepsis. Overall, arthroscopy of the MCP joint of the fingers other than the thumb is an easy technique, indicated for trauma-related and chronic lesions, which may be best performed with horizontal traction.


Assuntos
Artroscopia , Articulação Metacarpofalângica/cirurgia , Tração/métodos , Adolescente , Adulto , Fluoroscopia , Humanos , Cuidados Intraoperatórios , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Torniquetes , Adulto Jovem
13.
Chir Main ; 34(3): 109-12, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25964220

RESUMO

Online learning (or eLearning) is in constant evolution in medicine. An analytical survey of the websites of eight academic societies and medical schools was carried out. These sites were evaluated against parameters that define the quality of an eLearning website, as well as the shareable content object reference model (SCORM) technical standards. All studied platforms were maintained by a webmaster and regularly updated. Only two platforms had teleconference opportunities, five had courses in PDF format, and four allowed online testing. Based on SCORM standards, only four platforms allowed direct access without a password. The content of all platforms was adaptable, interoperable and reusable. But their sustainability was difficult to assess. In parallel, we developed the first eLearning platform to be used as part of a university diploma in microsurgery in France. The platform was evaluated by students enrolled this diploma program. A satisfaction survey and platform evaluation showed that students were generally satisfied and had used the platform for microsurgery education, especially the seven students living abroad. ELearning for microsurgery allows the content to be continuously updated, makes for fewer classroom visits, provides easy remote access, and especially better training time management and cost savings in terms of travel and accommodations.


Assuntos
Instrução por Computador , Educação a Distância , Microcirurgia/educação , Currículo , Educação de Graduação em Medicina , França , Humanos , Internet , Marrocos , Interface Usuário-Computador
14.
J Hand Surg Eur Vol ; 40(1): 42-50, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25311936

RESUMO

Acute traumatic lesions of the base of the first metacarpal are frequent and their consequences can affect the opposition of the thumb. They usually occur after trauma in compression along the axis of the thumb in flexion. Restoring the anatomy and biomechanics of the trapeziometacarpal joint is essential when treating these injuries, hence why surgical treatment is usually indicated. We distinguish trapeziometacarpal dislocations, small-fragment and large-fragment Bennett's fractures, articular three-fragment Rolando and comminutive fractures and extra-articular fractures of the base of the first metacarpal. All carry the risk of narrowing of the first web. Recent studies have described poor results with conservative treatment. Surgical techniques are varied: percutaneous surgery, open surgery and arthroscopic surgery. The techniques of osteosynthesis are various: locking plates, and direct or indirect screw fixation or pinning. The prognosis depends on the quality of the restoration of the mobility of the trapeziometacarpal joint.


Assuntos
Articulações Carpometacarpais/lesões , Fixação de Fratura , Fraturas Intra-Articulares/cirurgia , Luxações Articulares/cirurgia , Ossos Metacarpais/lesões , Polegar/lesões , Humanos , Fraturas Intra-Articulares/diagnóstico , Fraturas Intra-Articulares/etiologia , Luxações Articulares/diagnóstico , Luxações Articulares/etiologia
15.
Chir Main ; 33(6): 379-83, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25458467

RESUMO

The aim of this study was to establish the feasibility of microsurgical end-to-side vascular anastomosis with a multiclamp adjustable vascular clamp prototype in an inert experimental model. Our method consisted of performing an end-to-side microsurgical anastomosis with 10/0 suture on a 2-mm diameter segment. In group 1, the end-to-side segment was held in place by a double clamp and a single end clamp. In group 2, the segment was held in place with a single multiclamp adjustable clamp. The average time for performing the anastomosis was shorter in group 2. The average number of sutures was the same in both groups. No leak was found and permeability was always positive in both groups. Our results show that performing end-to-side anastomosis with a multiclamp adjustable vascular clamp is feasible in an inert experimental model. Feasibility in a live animal model has to be demonstrated before clinical use.


Assuntos
Anastomose Cirúrgica/instrumentação , Microcirurgia/instrumentação , Modelos Biológicos , Procedimentos Cirúrgicos Vasculares/instrumentação , Anastomose Cirúrgica/métodos , Vasos Sanguíneos , Estudos de Viabilidade , Humanos
16.
J Appl Microbiol ; 117(4): 1191-7, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25047966

RESUMO

AIMS: The genetic differences of enterohaemorrhagic Escherichia coli O157 (O157) strains isolated from humans in three widely-separated areas in Japan were analysed to provide information on possible geographic aspects of O157 pathogenicity. METHODS AND RESULTS: Epidemiologically unlinked O157 strains were isolated in Chiba (300 strains), Fukuoka (260 strains) and Yamagata (81 strains) prefectures. These strains were classified in clades by single nucleotide polymorphism in seven loci and lineage-specific polymorphism assay-6, and differences between the strains in each clade were compared by population genetic analyses using the IS-printing system. Analysis of the clades from the three areas showed linkage disequilibrium of the strains in each clade. Comparison of the genetic differences of strains from the three areas in each clade, from calculated ΦPT values, indicated that the strains in each clade were the same population in all three areas, except possibly the clade 12 strains. CONCLUSIONS: Population genetics analyses confirmed that the distribution of O157 strains in the clades isolated in three areas in Japan were similar and stable. SIGNIFICANCE AND IMPACT OF THE STUDY: The pathogenicity of O157 strains infecting humans was comparable due to the similar, stable geographic distribution of O157 clades.


Assuntos
Infecções por Escherichia coli/epidemiologia , Infecções por Escherichia coli/microbiologia , Escherichia coli O157/classificação , Escherichia coli O157/genética , Escherichia coli O157/isolamento & purificação , Escherichia coli O157/patogenicidade , Humanos , Japão/epidemiologia , Filogenia , Polimorfismo de Nucleotídeo Único
17.
J Appl Microbiol ; 111(3): 773-86, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21707882

RESUMO

AIMS: This study evaluated a typing method of O26:H11 enterohaemorrhagic and enteropathogenic Escherichia coli (EHEC and EPEC) based on the variation in genomic location and copy numbers of IS621. METHODS AND RESULTS: Two multiplex PCRs, targeting either the left (5') or right (3') IS/chromosome junction of 12 IS621 insertion sites and one PCR specific of another truncated copy, were developed. Thirty-eight amplification profiles were observed amongst a collection of 69 human and bovine O26:H11 EHEC and EPEC. Seventy-one per cent of the 45 EHEC and EPEC with identical IS621 fingerprints within groups of two, three or four isolates had >85% pulsed field gel electrophoresis (PFGE) profile similarity, including four groups of epidemiologically related EHEC or EPEC, while most of the groups had <85% similarity between each others. Epidemiologically related EHEC from each of three independent outbreaks in Japan and Belgium also exhibited identical IS621 fingerprints and PFGE profiles. CONCLUSIONS: The IS621 fingerprinting and the PFGE are complementary typing assays of EHEC and EPEC; though, the former is less discriminatory. SIGNIFICANCE AND IMPACT OF THE STUDY: The IS621 printing method represents a rapid (24 h) first-line surveillance and typing assay, to compare and trace back O26:H11 EHEC and EPEC during surveys in farms, multiple human cases and outbreaks.


Assuntos
Técnicas de Tipagem Bacteriana/métodos , Impressões Digitais de DNA/métodos , Escherichia coli Êntero-Hemorrágica/classificação , Escherichia coli Enteropatogênica/classificação , Reação em Cadeia da Polimerase Multiplex/métodos , Animais , Bélgica , Bovinos , DNA Bacteriano/genética , Eletroforese em Gel de Campo Pulsado , Escherichia coli Êntero-Hemorrágica/genética , Escherichia coli Êntero-Hemorrágica/isolamento & purificação , Escherichia coli Enteropatogênica/genética , Escherichia coli Enteropatogênica/isolamento & purificação , Humanos , Japão , Antígenos O/genética , Análise de Sequência de DNA
19.
Cell Mol Life Sci ; 65(7-8): 1086-98, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18097636

RESUMO

Obesity is a multifactorial and heterogeneous condition that results from alterations of various genes, each having a partial and additive effect. The inheritance pattern of obesity is thus complex, and environmental factors play an important role in promoting or delaying its development. The identification of susceptibility genes and genetic variants for obesity requires various methodological approaches. Obesity is classified into three main categories on the basis of genetic etiology: monogenic, syndromic, and polygenic obesity. Here we review monogenic and syndromic obesity. We also review the linkage analysis studies followed by the candidate gene approaches and genome-wide association studies. Identification of the underlying genetic causes of obesity will likely provide a basis both for the development of new therapeutic agents and for the personalized prevention of this condition.


Assuntos
Predisposição Genética para Doença , Obesidade/genética , Meio Ambiente , Epistasia Genética , Ligação Genética , Humanos , Obesidade/etiologia , Síndrome
20.
J Med Genet ; 45(1): 22-8, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17766366

RESUMO

BACKGROUND: The aetiology of metabolic syndrome is complex, being determined by the interplay of both genetic and environmental factors. The aim of this study was to identify genetic polymorphisms that confer susceptibility to metabolic syndrome, to allow prediction of genetic risk for this condition. METHODS: The study population comprised 2417 unrelated Japanese subjects (1522 with metabolic syndrome and 895 controls). The genotypes for 44 polymorphisms of 31 candidate genes related to lipid metabolism were determined using a combination of PCR and sequence-specific oligonucleotide probes with suspension array technology. RESULTS: The chi(2) test and subsequent multivariate logistic regression analysis with adjustment for age, sex and smoking status found that the-3A-->G and 553G-->T (Gly185Cys) polymorphisms of APOA5, the 2052T-->C (Val653Val) and 1866C-->T (Asn591Asn) polymorphisms of LDLR, the 13989A-->G (Ile118Val) polymorphism of CYP3A4 and the 1014T-->A polymorphism of C1QTNF5 were significantly (false discovery rate <0.05) associated with the prevalence of metabolic syndrome, with the variant alleles of APOA5 and C1QTNF5 representing risk factors for and those of LDLR and CYP3A4 being protective against this condition. Serum levels of triglycerides and high-density lipoprotein (HDL) cholesterol differed significantly (p<0.05) among APOA5 genotypes; the serum level of HDL cholesterol differed among LDLR genotypes; and the fasting plasma glucose level and body mass index differed between CYP3A4 and C1QTNF5 genotypes, respectively. CONCLUSIONS: APOA5, LDLR, CYP3A4 and C1QTNF5 are susceptibility loci for metabolic syndrome in Japanese people. Genotypes for these polymorphisms may prove informative for prediction of genetic risk for metabolic syndrome.


Assuntos
Povo Asiático/genética , Predisposição Genética para Doença , Metabolismo dos Lipídeos/genética , Síndrome Metabólica/genética , Polimorfismo de Nucleotídeo Único , Idoso , Apolipoproteína A-V , Apolipoproteínas A/genética , Colágeno/genética , Citocromo P-450 CYP3A , Sistema Enzimático do Citocromo P-450/genética , Feminino , Genótipo , Humanos , Japão , Modelos Logísticos , Masculino , Síndrome Metabólica/fisiopatologia , Pessoa de Meia-Idade , Análise Multivariada , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Sondas de Oligonucleotídeos , Reação em Cadeia da Polimerase , Receptores de LDL/genética
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