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1.
Acta Cir Bras ; 38: e384223, 2023.
Article in English | MEDLINE | ID: mdl-37851786

ABSTRACT

PURPOSE: To introduce a new low-cost simulation model for training basic surgical skills. METHODS: The training model was made from a mixture of 20 g of acetic silicone with 11 g of maize starch. Validation consisted of serial training sessions, evaluating the mean pre- and post-training time and the mean final score according to the global rating scale. RESULTS: A decrease in the time required to perform the sutures was observed, comparing the average post and pre-training time of each training day, with a significant correlation between the order of training and the time for performing the simulation. CONCLUSIONS: The presented model proved to be capable of simulating the basic suture training skills. It is easy to make, has low cost, and can be easily reproduced in educational institutions.


Subject(s)
Clinical Competence , Simulation Training , Computer Simulation , Sutures
2.
Rev. bras. cir. plást ; 38(3): 1-8, jul.set.2023. ilus
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1525364

ABSTRACT

Introdução: O diagnóstico tardio do câncer de mama eleva o número de cirurgias, resultando em alta mortalidade e resultado pouco estético. Assim, é fundamental a instituição de procedimentos de reconstrução mamária. Método: Estudo descritivo, quantitativo e retrospectivo sobre as autorizações de internação hospitalar de pacientes submetidos a procedimentos cirúrgicos de mama em oncologia, no período de 2011 a 2020, cujo dados foram obtidos na plataforma DATASUS. Resultados: 7.529 cirurgias de câncer de mama e 1.949 cirurgias reparadoras foram realizadas na Região Norte. Houve aumento do número de procedimentos ao longo da década. Em todos os estados é possível perceber a diferença no número de municípios de residência, comparado aos municípios de internação. Conclusão: Necessita-se instituir centros de referência oncológica, garantindo tratamento individualizado e a reconstrução mamária.


Introduction: Late breast cancer diagnosis increases the number of surgeries, resulting in high mortality and unsightly results. Therefore, the institution of breast reconstruction procedures is essential. Method: Descriptive, quantitative, and retrospective study on authorizations for hospital admission of patients undergoing breast surgical procedures in oncology from 2011 to 2020, whose data were obtained from the DATASUS platform. Results: 7,529 breast cancer surgeries and 1,949 reconstructive surgeries were performed in the North Region. There was an increase in the number of procedures throughout the decade. In all states, it is possible to notice the difference in the number of municipalities of residence compared to the municipalities of hospitalization. Conclusion: It is necessary to establish oncological reference centers, guaranteeing individualized treatment and breast reconstruction.

3.
Arch. endocrinol. metab. (Online) ; 67(3): 372-377, June 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1429753

ABSTRACT

ABSTRACT Objective: To describe the distribution profile of thyroidectomies in Brazil from 2010 to 2020 from a macro-regional perspective. Materials and methods: This is a retrospective, detailed and descriptive study built on secondary data obtained from the Hospital Information System of the Unified Health System (SIH/SUS). We organized the data in tables and grouped them according to the federative unit, macro-region, type of procedure, mortality rate, and year of performance. We performed statistical analysis using the χ2 test to assess the association between the variables, observing a P value of < 0.05 and a confidence interval of 95%. Results: From 2010 to 2020, 160 219 thyroidectomy surgeries were performed, of which 77 812 (48.56%) were total, 38 064 (23.76%) partial and 41 191 (25.70%) oncological.The Southeast was responsible for the largest share of procedures, with 70 745 (44.15%), followed by the Northeast with 43 887 (27.39%). In 2020, the procedure was less performed, with 9226 (5.75%) surgeries. The total mortality rate was 0.16% during the study period. Conclusion: We found that thyroidectomies are carried out mainly in the Southeastern, Northeastern, and Southern regions, and showed a downward trend in 2020, which may be related to the COVID-19 pandemic. In addition, total thyroidectomy is the most performed surgery, and the Northern region had the highest mortality rate.

4.
Arch Endocrinol Metab ; 67(3): 372-377, 2023 Mar 30.
Article in English | MEDLINE | ID: mdl-37011372

ABSTRACT

Objective: To describe the distribution profile of thyroidectomies in Brazil from 2010 to 2020 from a macro-regional perspective. Materials and methods: This is a retrospective, detailed and descriptive study built on secondary data obtained from the Hospital Information System of the Unified Health System (SIH/SUS). We organized the data in tables and grouped them according to the federative unit, macro-region, type of procedure, mortality rate, and year of performance. We performed statistical analysis using the χ2 test to assess the association between the variables, observing a P value of < 0.05 and a confidence interval of 95%. Results: From 2010 to 2020, 160 219 thyroidectomy surgeries were performed, of which 77 812 (48.56%) were total, 38 064 (23.76%) partial and 41 191 (25.70%) oncological. The Southeast was responsible for the largest share of procedures, with 70 745 (44.15%), followed by the Northeast with 43 887 (27.39%). In 2020, the procedure was less performed, with 9226 (5.75%) surgeries. The total mortality rate was 0.16% during the study period. Conclusion: We found that thyroidectomies are carried out mainly in the Southeastern, Northeastern, and Southern regions, and showed a downward trend in 2020, which may be related to the COVID-19 pandemic. In addition, total thyroidectomy is the most performed surgery, and the Northern region had the highest mortality rate.


Subject(s)
COVID-19 , Thyroidectomy , Humans , Thyroidectomy/methods , Retrospective Studies , Brazil/epidemiology , Pandemics
5.
Genes (Basel) ; 14(2)2023 01 31.
Article in English | MEDLINE | ID: mdl-36833294

ABSTRACT

BACKGROUND: Rotator cuff disease is one of the leading causes of musculoskeletal pain and disability, and its etiology is most likely multifactorial but remains incompletely understood. Therefore, the objective of this research was to investigate the relationship of the single-nucleotide rs820218 polymorphism of the SAP30-binding protein (SAP30BP) gene with rotator cuff tears in the Amazonian population. METHODS: The case group consisted of patients who were operated on due to rotator cuff tears in a hospital in the Amazon region between 2010 and 2021, and the control group was composed of individuals who were selected after negative physical examinations for rotator cuff tears. Genomic DNA was obtained from saliva samples. For the genotyping and allelic discrimination of the selected single nucleotide polymorphism (rs820218) in the SAP30BP gene, real-time PCR was performed. RESULTS: The frequency of the A allele in the control group was four times as high as that in the case group (AA homozygotes); an association of the genetic variant rs820218 of the SAP30BP gene with rotator cuff tears was not established (p = 0.28 and 0.20), as the A allelic frequency is ordinarily low in the general population. CONCLUSIONS: The presence of the A allele indicates protection against rotator cuff tears.


Subject(s)
Rotator Cuff Injuries , Transcription Factors , Humans , Alleles , Gene Frequency , Nuclear Proteins/genetics , Polymorphism, Single Nucleotide , Rotator Cuff/surgery , Rotator Cuff Injuries/genetics , Transcription Factors/genetics
6.
Rev Col Bras Cir ; 49: e20223217, 2023.
Article in English, Portuguese | MEDLINE | ID: mdl-36629718

ABSTRACT

OBJECTIVES: develop an easily accessible model for training the initial motor practice in microsurgery using corn kernels. METHODS: ten corn kernels (Zea mays) were used. A 7mm longitudinal cut was made on one side of the corn grain. The training consisted of performing 4 simple knots between the edges of the incision, using 10-0 mononylon thread. The parameters analyzed were 1) cost of the model; 2) assembly time of the model test system; 3) time for performing the knots; 4) distance between the knots. RESULTS: in all corn kernels tested, it was possible to perform the proposed microsurgical suture training, without any difficulty in the procedure. The average time to perform the 4 knots was 6.51±1.18 minutes. The total cost of the simulator model was R$3.59. The average distance between the knots was 1.7±0.3mm. The model developed from corn grains has an extremely low cost when compared to the use of animals or high-tech simulators. Other advantages are the easy availability of canned corn kernels and the possibility of making more than four knots along the 7mm incision. CONCLUSION: the training model developed has low cost, is easy to acquire and viable for training basic manual skills in microsurgery.


Subject(s)
Microsurgery , Zea mays , Animals , Microsurgery/education
7.
Acta cir. bras ; 38: e384223, 2023. tab, graf
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1513542

ABSTRACT

ABSTRACT Purpose: To introduce a new low-cost simulation model for training basic surgical skills. Methods: The training model was made from a mixture of 20 g of acetic silicone with 11 g of maize starch. Validation consisted of serial training sessions, evaluating the mean pre- and post-training time and the mean final score according to the global rating scale. Results: A decrease in the time required to perform the sutures was observed, comparing the average post and pre-training time of each training day, with a significant correlation between the order of training and the time for performing the simulation. Conclusions: The presented model proved to be capable of simulating the basic suture training skills. It is easy to make, has low cost, and can be easily reproduced in educational institutions.

8.
Acta Cir Bras ; 37(8): e370803, 2022.
Article in English | MEDLINE | ID: mdl-36327397

ABSTRACT

PURPOSE: To describe the microsurgical anatomical aspects of the extratemporal facial nerve of Wistar rats under a high-definition video system. METHODS: Ten male Wistar rats (12-15 weeks old), without veterinary diseases, weighing 220-280 g, were used in this study. All animals in this study were submitted to the same protocol and by the same surgeon. A 10-mm incision was made below the bony prominence of the right or left ear, and extended towards the angle of the mandible. The dissection was performed and the main branches of the facial nerve were dissected. RESULTS: The main trunk of the facial nerve has a length of 0.88 ± 0.10 mm and a length of 3.81 ± 1.03 mm, measured from its emergence from the stylomastoid foramen to its bifurcation. Seven branches originating from the facial nerve were identified: posterior auricular, posterior cervical, cervical, mandibular, buccal, temporal, and zygomatic. CONCLUSIONS: The anatomy of the facial nerve is comparable to that of humans, with some variations. The most observed anatomical division was the distribution in posterior auricular, posterior cervical, cervical, mandibular, buccal, temporal, and zygomatic branches. There is no statistical difference between the thickness and distance of the structures compared to the contralateral side.


Subject(s)
Dissection , Facial Nerve , Humans , Male , Rats , Animals , Facial Nerve/surgery , Facial Nerve/anatomy & histology , Rats, Wistar , Neck , Mandible/surgery , Mandible/anatomy & histology , Cadaver
9.
Acta cir. bras ; 37(8): e370803, 2022. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1402975

ABSTRACT

Purpose: To describe the microsurgical anatomical aspects of the extratemporal facial nerve of Wistar rats under a high-definition video system. Methods: Ten male Wistar rats (12­15 weeks old), without veterinary diseases, weighing 220­280 g, were used in this study. All animals in this study were submitted to the same protocol and by the same surgeon. A 10-mm incision was made below the bony prominence of the right or left ear, and extended towards the angle of the mandible. The dissection was performed and the main branches of the facial nerve were dissected. Results: The main trunk of the facial nerve has a length of 0.88 ± 0.10 mm and a length of 3.81 ± 1.03 mm, measured from its emergence from the stylomastoid foramen to its bifurcation. Seven branches originating from the facial nerve were identified: posterior auricular, posterior cervical, cervical, mandibular, buccal, temporal, and zygomatic. Conclusions: The anatomy of the facial nerve is comparable to that of humans, with some variations. The most observed anatomical division was the distribution in posterior auricular, posterior cervical, cervical, mandibular, buccal, temporal, and zygomatic branches. There is no statistical difference between the thickness and distance of the structures compared to the contralateral side.


Subject(s)
Animals , Male , Rats , Microdissection/veterinary , Facial Nerve/anatomy & histology , Facial Paralysis/surgery , Microsurgery/veterinary , Video-Assisted Surgery/veterinary
10.
Rev. Col. Bras. Cir ; 49: e20223217, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1422716

ABSTRACT

ABSTRACT Objectives: develop an easily accessible model for training the initial motor practice in microsurgery using corn kernels. Methods: ten corn kernels (Zea mays) were used. A 7mm longitudinal cut was made on one side of the corn grain. The training consisted of performing 4 simple knots between the edges of the incision, using 10-0 mononylon thread. The parameters analyzed were 1) cost of the model; 2) assembly time of the model test system; 3) time for performing the knots; 4) distance between the knots. Results: in all corn kernels tested, it was possible to perform the proposed microsurgical suture training, without any difficulty in the procedure. The average time to perform the 4 knots was 6.51±1.18 minutes. The total cost of the simulator model was R$3.59. The average distance between the knots was 1.7±0.3mm. The model developed from corn grains has an extremely low cost when compared to the use of animals or high-tech simulators. Other advantages are the easy availability of canned corn kernels and the possibility of making more than four knots along the 7mm incision. Conclusion: the training model developed has low cost, is easy to acquire and viable for training basic manual skills in microsurgery.


RESUMO Objetivo: desenvolver um modelo facilmente acessível para o treinamento da prática motora inicial em microcirurgia a partir da utilização de grãos de milho. Métodos: foram utilizados dez grãos de milho (Zea mays). Realizou-se um corte longitudinal de 7mm em uma das faces do grão de milho. O treinamento consistiu na realização de 4 pontos simples entre as bordas da incisão, utilizando fio de mononáilon 10-0. Os parâmetros analisados foram 1) custo do modelo; 2) tempo de montagem do sistema de teste do modelo; 3) tempo de realização dos nós; 4) distância entre os pontos. Resultados: em todos os grãos testados foi possível realizar o treinamento de sutura microcirúrgica proposto, sem dificuldade ao procedimento. O tempo médio para a realização dos 4 pontos foi de 6,51±1,18 minutos. O custo total do modelo simulatório foi de R$3,59. A distância média entre os pontos foi de 1,7±0,3mm. O modelo desenvolvido a partir de grãos de milhos apresenta custo extremamente baixo quando comparado ao uso de animais ou de simuladores de alta tecnologia. Outras vantagens são fácil disponibilidade de grãos de milho em conserva e possibilidade de serem realizados mais de quatro pontos ao longo da incisão de 7mm. Conclusão: o modelo de treinamento desenvolvido é de baixo custo, de fácil aquisição e viável para o treinamento de habilidades manuais básicas em microcirurgia.

11.
Pharmeur Bio Sci Notes ; 2020: 25-48, 2020.
Article in English | MEDLINE | ID: mdl-32329712

ABSTRACT

An international collaborative study was organised to establish the 3rd World Health Organization (WHO) International Standard (IS) for amphotericin B. Sixteen laboratories from different countries participated. Potencies of the candidate material were estimated by microbiological assays with sensitive micro-organisms. To ensure continuity between consecutive batches, the 2nd IS for amphotericin B was used as a reference. Based on the results of the study, the 3rd IS for amphotericin B was adopted at the meeting of the WHO Expert Committee for Biological Standardization (ECBS) in 2019 with an assigned potency of 953 International Units (IU) per mg. The 3rd IS for amphotericin B is available from the European Directorate for the Quality of Medicines & HealthCare (EDQM).


Subject(s)
Amphotericin B/standards , Anti-Bacterial Agents/standards , Congresses as Topic/standards , International Cooperation , Laboratories/standards , World Health Organization , Drug Stability , Humans , Reference Standards
12.
Acta Med Port ; 32(3): 240-243, 2019 Mar 29.
Article in English | MEDLINE | ID: mdl-30946797

ABSTRACT

Internal hernias are a rare cause of bowel obstruction (1%) and can be caused by broad ligament defects in 4% to 7% of the cases. These defects may be congenital or acquired and are classified according to its anatomical location. This paper reports three cases of small bowel obstruction by broad ligament hernia. The patients, three women aged from 35 to 51 years old, were admitted to the emergency department with small bowel obstruction. An exploratory laparotomy was performed during which an internal hernia through a broad ligament defect was identified. In all cases the hernia content was reduced and the defect closed. One of the patients required a segmental enterectomy. All patients had a favorable outcome. This paper aims to raise awareness about the broad ligament hernia as a cause of bowel obstruction, namely in middle-aged women with no surgical history.


As hérnias internas são uma causa rara de oclusão intestinal (1%) e podem ser causadas por anomalias do ligamento largo do útero em 4% a 7% dos casos. Estas anomalias podem ser congénitas ou adquiridas e são classificadas de acordo com a sua localização anatómica. Descrevem-se três casos clínicos de oclusão de intestino delgado por hérnia do ligamento largo do útero. Três mulheres com idades entre os 35 e 51 anos recorreram ao serviço de urgência com quadro de oclusão intestinal. No decurso de laparotomia exploradora foi identificada uma hérnia interna através do ligamento largo do útero. Em todos os casos o conteúdo herniado foi reduzido e o orifício encerrado. Uma das doentes necessitou de enterectomia segmentar. Todas as doentes evoluíram favoravelmente. Este trabalho pretende alertar para o diagnóstico de hérnia do ligamento largo do útero como causa de oclusão intestinal, principalmente em mulheres de meia idade, sem antecedentes cirúrgicos.


Subject(s)
Broad Ligament , Hernia/complications , Intestinal Obstruction/etiology , Intestine, Small , Adult , Female , Humans , Laparotomy , Middle Aged
17.
Arq. bras. oftalmol ; 76(6): 345-349, nov.-dez. 2013. ilus, graf, tab
Article in English | LILACS | ID: lil-701284

ABSTRACT

PURPOSE: Ocular akinesia, the use of anticoagulants, and patient collaboration are some of the factors that must be taken into consideration when choosing the appropriate anesthesia for phacoemulsification cataract surgery. The satisfaction of patients with the use of topical anesthesia and conscious sedation for this procedure has not been enough described in Brazil. Conscious sedation allows patient walk and answer a voice command. To assess the satisfaction, pain, and perioperative hemodynamic alterations of patients subjected to phacoemulsification under conscious sedation and topical anesthesia supplemented with intracameral lidocaine. METHODS: Prospective cohort non-controlled study that included patients treated by the same surgical team over a 70-day period. Sedation was performed with midazolam at a total dose of 3 mg and topical anesthesia with 0.5% proxymetacaine chlorhydrate and 2% lidocaine gel combined with 2% lidocaine by intracameral route. The intraoperative vital parameters, scores based on the Iowa Satisfaction with Anesthesia Scale (ISAS), and the pain visual analog scale (VAS) were recorded at several time points after surgery. RESULTS: A total of 106 patients were enroled in study (73.6% female), the mean age was 65.9 years. The surgical procedures lasted 11.2 minutes on average. The hemodynamic parameters did not exhibit significant changes at any of the investigated time points. The average ISAS score was 2.67 immediately after surgery and 2.99 eight hours after the surgery; this increase was statistically significant (p<0.0001). More than two-thirds (68.9%) of the participants (73 patients) did not report any pain in the transoperative period, and 98.1% of patients denied the occurrence of pain after surgery. CONCLUSIONS: Patients that received topical anesthesia supplemented by intracameral lidocaine combined with sedation for phacoemulsification cataract surgery reported adequate level of satisfaction with the anesthetic choice. Furthermore, the patients exhibited hemodynamic parameter stability and pain control.


OBJETIVO: Acinesia ocular, uso de anticoagulantes e cooperação do paciente são fatores envolvidos na escolha da anestesia para cirurgia de catarata por facoemulsificação. A satisfação com anestesia tópica associada à sedação consciente neste procedimento foi pouco descrita no Brasil. Sedação consciente permite que o paciente sedado mantenha a capacidade de deambular e de responder ao chamado de voz. Avaliar a satisfação, dor e alterações hemodinâmicas perioperatórias de pacientes submetidos à facoemulsificação sob sedação consciente por anestesia tópica com injeção de lidocaína na câmara anterior. MÉTODOS: Estudo de coorte prospectivo, não controlado de pacientes operados pela mesma equipe em um período de 70 dias. Realizada sedação com 3 mg de midazolam, anestesia tópica com cloridrato de proximetacaína 0,5% e lidocaína gel 2%, associada à injeção de lidocaína 2% na câmara anterior. Registrados parâmetros vitais intraoperatórios, escala de satisfação com a anestesia de Iowa (ISAS) e a Escala Analógica Visual da Dor (EVA) em diferentes períodos do pós-operatório. RESULTADOS: Foram avaliados 106 pacientes (73,6% do sexo feminino), com idade média de 65,9 anos. O tempo cirúrgico médio foi de 11,2 minutos. Não houve diferença estatisticamente significante entre as variáveis hemodinâmicas nos momentos estudados. Ao final da operação, a média de escores na escala ISAS foi de 2,67 e 8 horas após foi de 2,99, apresentando aumento significativo (p<0,0001). Não houve relato de qualquer dor transoperatória em 68,9% dos casos, e 98,10% dos pacientes negaram dor pós-operatória. CONCLUSÕES: Em cirurgia de facectomia por facoemulsificação realizada sob sedação consciente associada à anestesia tópica com injeção de lidocaína 2% na câmara anterior, obtêm-se níveis adequados de satisfação com a anestesia, estabilidade de variáveis hemodinâmicas durante o procedimento e adequado controle da dor.


Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Anesthesia, Local/methods , Anesthetics, Local/administration & dosage , Conscious Sedation/methods , Lidocaine/administration & dosage , Patient Satisfaction , Phacoemulsification/methods , Administration, Topical , Analysis of Variance , Anesthetics, Combined/administration & dosage , Anterior Chamber/drug effects , Pain Measurement , Pain, Postoperative , Prospective Studies , Time Factors , Treatment Outcome
18.
Arq Bras Oftalmol ; 76(6): 345-9, 2013.
Article in English | MEDLINE | ID: mdl-24510080

ABSTRACT

PURPOSE: Ocular akinesia, the use of anticoagulants, and patient collaboration are some of the factors that must be taken into consideration when choosing the appropriate anesthesia for phacoemulsification cataract surgery. The satisfaction of patients with the use of topical anesthesia and conscious sedation for this procedure has not been enough described in Brazil. Conscious sedation allows patient walk and answer a voice command. To assess the satisfaction, pain, and perioperative hemodynamic alterations of patients subjected to phacoemulsification under conscious sedation and topical anesthesia supplemented with intracameral lidocaine. METHODS: Prospective cohort non-controlled study that included patients treated by the same surgical team over a 70-day period. Sedation was performed with midazolam at a total dose of 3 mg and topical anesthesia with 0.5% proxymetacaine chlorhydrate and 2% lidocaine gel combined with 2% lidocaine by intracameral route. The intraoperative vital parameters, scores based on the Iowa Satisfaction with Anesthesia Scale (ISAS), and the pain visual analog scale (VAS) were recorded at several time points after surgery. RESULTS: A total of 106 patients were enrolled in study (73.6% female), the mean age was 65.9 years. The surgical procedures lasted 11.2 minutes on average. The hemodynamic parameters did not exhibit significant changes at any of the investigated time points. The average ISAS score was 2.67 immediately after surgery and 2.99 eight hours after the surgery; this increase was statistically significant (p<0.0001). More than two-thirds (68.9%) of the participants (73 patients) did not report any pain in the transoperative period, and 98.1% of patients denied the occurrence of pain after surgery. CONCLUSIONS: Patients that received topical anesthesia supplemented by intracameral lidocaine combined with sedation for phacoemulsification cataract surgery reported adequate level of satisfaction with the anesthetic choice. Furthermore, the patients exhibited hemodynamic parameter stability and pain control.


Subject(s)
Anesthesia, Local/methods , Anesthetics, Local/administration & dosage , Conscious Sedation/methods , Lidocaine/administration & dosage , Patient Satisfaction , Phacoemulsification/methods , Administration, Topical , Aged , Aged, 80 and over , Analysis of Variance , Anesthetics, Combined/administration & dosage , Anterior Chamber/drug effects , Female , Humans , Male , Middle Aged , Pain Measurement , Pain, Postoperative , Prospective Studies , Time Factors , Treatment Outcome
19.
Arthritis Res Ther ; 11(2): R45, 2009.
Article in English | MEDLINE | ID: mdl-19302705

ABSTRACT

INTRODUCTION: A candidate gene approach, in a large case-control association study in the Dutch population, has shown that a 480 kb block on chromosome 4q27 encompassing KIAA1109/Tenr/IL2/IL21 genes is associated with rheumatoid arthritis. Compared with case-control association studies, family-based studies have the added advantage of controlling potential differences in population structure. Therefore, our aim was to test this association in populations of European origin by using a family-based approach. METHODS: A total of 1,302 West European white individuals from 434 trio families were genotyped for the rs4505848, rs11732095, rs6822844, rs4492018 and rs1398553 polymorphisms using the TaqMan Allelic discrimination assay (Applied Biosystems). The genetic association analyses for each SNP and haplotype were performed using the Transmission Disequilibrium Test and the genotype relative risk. RESULTS: We observed evidence for association of the heterozygous rs4505848-AG genotype with rheumatoid arthritis (P = 0.04); however, no significance was found after Bonferroni correction. In concordance with previous findings in the Dutch population, we observed a trend of undertransmission for the rs6822844-T allele and rs6822844-GT genotype to rheumatoid arthritis patients. We further investigated the five SNP haplotypes of the KIAA1109/Tenr/IL2/IL21 gene region. We observed, as described in the Dutch population, a nonsignificant undertransmission of the AATGG haplotype to rheumatoid arthritis patients. CONCLUSIONS: Using a family-based study, we have provided a trend for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in populations of European descent. Nevertheless, we failed to replicate a significant association of this region in our rheumatoid arthritis family sample. Further investigation of this region, including detection and testing of all variants, is required to confirm rheumatoid arthritis association.


Subject(s)
Arthritis, Rheumatoid/genetics , Chromosomes, Human, Pair 4/genetics , Genetic Predisposition to Disease , Interleukin-2/genetics , Interleukins/genetics , Adult , Europe , Family , Female , Humans , Male , Polymorphism, Single Nucleotide
20.
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