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The latissimus dorsi (LD) muscle is a workhorse flap in reconstructive surgery (e.g., breast reconstruction, chest wall defects, and lower limb trauma). The thoracodorsal artery and its venae comitantes supply this muscle. Recipient vessel options for microsurgical free flap reconstruction of the posterior thorax and lower back are limited. The thoracodorsal vessels are an excellent option due to their reliable anatomy and ease of access. In circumstances when the patient is best positioned prone, the posterior approach to access the thoracodorsal vessels is advantageous. We describe the technique to identify and isolate these vessels via a posterior approach.
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Asking 'can we balance the risks and benefits?' implies that a quantification of both risk and benefit in hand transplantation (here the terms hand transplant and hand transplantation refer to allotransplantation of the human hand or hand and part or all of the upper limb or limbs) is possible. Despite all we have learned in recent years about hand transplantation, much remains unknown. Even if reliable methods for quantification of risk and benefit were available, fundamental issues relating to effective communication across the gulf of lived experience between the (presumably) handed surgeon and the handless patient remain. Inherent complexities mean some consider hand transplantation an unsolved problem, but we believe the medical and technical considerations fall within the ambit of a competent multidisciplinary team, and that psychosocial and ethical challenges are open to management through robust frameworks for assessment and decision making, underpinned by an extended period of assessment and dialogue, with candid acknowledgement where uncertainty remains. This respects the patient's autonomy while addressing the need for a prolonged period of informing consent.Level of evidence: V.
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Transplante de Mão , Humanos , Transplante de Mão/métodos , Extremidade Superior , Mãos , Medição de RiscoRESUMO
Abdominal pain is a frequent complaint in children, leading them to seek medical attention. It can have several causes, though acute appendicitis is the most feared diagnosis when pain is localized in the right iliac fossa. We report a case of an 8-year-old boy with the complaint of acute abdominal pain, initially referred by his family doctor to a radiologist for an abdominal ultrasound (US) for suspected acute appendicitis. A fortuitous diagnosis of giant hydronephrosis (GH) was made upon admission, which showed the palpation of a huge poorly delineated abdominal mass that was probably missed at the previous examination by the general physician (GP). Uroscan confirmed the diagnosis of GH secondary to obstruction at the ureteropelvic junction. A renal MAG3 (mercaptuacetyltriglycine) scan showed revealed differential renal function (15%) on the right side, normal on the left side. Robot-assisted right pyeloplasty with the transposition of right lower polar vessels via trans-peritoneal laparoscopy was performed, and JJ probe left in-situ for a month. The boy is doing well and is under active follow-up. GH is rare; its diagnosis requires both meticulous examination and a high index of suspicion. Its management is uncodified but in children, pyeloplasty is preferred to nephrectomy.
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COVID-19 , Antígenos Virais , Herpesvirus Humano 4 , Humanos , Pandemias/prevenção & controleRESUMO
The European Nucleotide Archive (ENA, https://www.ebi.ac.uk/ena), maintained at the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI) provides freely accessible services, both for deposition of, and access to, open nucleotide sequencing data. Open scientific data are of paramount importance to the scientific community and contribute daily to the acceleration of scientific advance. Here, we outline the major updates to ENA's services and infrastructure that have been delivered over the past year.
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Biologia Computacional , Bases de Dados de Ácidos Nucleicos , Nucleotídeos/genética , Software , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Internet , Anotação de Sequência Molecular , Nucleotídeos/classificaçãoRESUMO
INTRODUCTION: Celiac disease typically presents with symptoms of malabsorption, but extraintestinal manifestations are increasingly reported. Aplastic anemia as the mode of celiac disease presentation is extremely rare in children. CASE PRESENTATION: We report a 2-year-old boy who presented with loose stools, loss of appetite, and bicytopenia with severe aregenerative normocytic anemia. Investigations, including bone marrow aspirate and biopsy, revealed aplastic anemia. Screening for malabsorption showed increased plasma concentrations of anti-transglutaminase and anti-gliadin antibodies. A duodenal biopsy confirmed the histologic features of celiac disease. The child received a packed red cell transfusion and was started on a gluten-free diet, with a very good prognosis and normalization of both his blood and histological parameters. To the best of our knowledge, our report is the sixth pediatric case in the literature. CONCLUSION: Screening for celiac disease should be performed in children with unexplained hematological abnormalities such as aplastic anemia with or without gastrointestinal symptoms.
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The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), provided by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), has for almost forty years continued in its mission to freely archive and present the world's public sequencing data for the benefit of the entire scientific community and for the acceleration of the global research effort. Here we highlight the major developments to ENA services and content in 2020, focussing in particular on the recently released updated ENA browser, modernisation of our release process and our data coordination collaborations with specific research communities.
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Biologia Computacional/métodos , Bases de Dados de Ácidos Nucleicos/tendências , Ácidos Nucleicos/genética , Nucleotídeos/genética , Bases de Dados de Ácidos Nucleicos/estatística & dados numéricos , Europa (Continente) , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Internet , Anotação de Sequência Molecular , Ácidos Nucleicos/química , Nucleotídeos/química , Análise de Sequência de DNA , Análise de Sequência de RNARESUMO
More than 40 agencies that fund health research capacity strengthening in low- and middle-income countries (LMICs) participate in the ESSENCE Health Research initiative, which has established a mechanism for reviewing and coordinating their funding. Taken together, the expected outcomes of implementation of the review mechanism are increases in the efficiency and equity in health research capacity strengthening activities with decreased duplication of efforts. The overall goal is increased support of research on national health priorities as well as improved pandemic preparedness in LMICs, and, eventually, fewer countries with very limited research capacity.
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Países em Desenvolvimento , Renda , Prioridades em Saúde , Humanos , Motivação , PobrezaAssuntos
Síndrome da Imunodeficiência Adquirida/economia , Pesquisa Biomédica/economia , Financiamento de Capital/estatística & dados numéricos , Financiamento Governamental/estatística & dados numéricos , Infecções por HIV/economia , Apoio à Pesquisa como Assunto/economia , Apoio à Pesquisa como Assunto/estatística & dados numéricos , África Subsaariana , Bases de Dados Factuais , HumanosRESUMO
The UK hand transplantation programme is hosted by the Department of Plastic and Reconstructive Surgery at Leeds Teaching Hospitals under the leadership of Professor Simon Kay. Since programme launch in 2013, ten procedures in six individuals have been performed involving unilateral or bilateral transplants. The multi-disciplinary team that delivers the programme includes the transplant immunology service. The laboratory experience in programme support is reported here.
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Rejeição de Enxerto/imunologia , Sobrevivência de Enxerto/imunologia , Antígenos HLA/imunologia , Transplante de Mão , Alemtuzumab/farmacologia , Anticorpos , Transplante de Mão/métodos , Transplante de Mão/reabilitação , Humanos , Imunização , Imunofenotipagem , Transplantes/imunologiaRESUMO
The European Nucleotide Archive (ENA, https://www.ebi.ac.uk/ena) at the European Molecular Biology Laboratory's European Bioinformatics Institute provides open and freely available data deposition and access services across the spectrum of nucleotide sequence data types. Making the world's public sequencing datasets available to the scientific community, the ENA represents a globally comprehensive nucleotide sequence resource. Here, we outline ENA services and content in 2019 and provide an insight into selected key areas of development in this period.
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Biologia Computacional , Bases de Dados de Ácidos Nucleicos , Genômica , Biologia Computacional/métodos , Europa (Continente) , Genômica/métodos , Anotação de Sequência Molecular , Software , Interface Usuário-Computador , NavegadorRESUMO
This short review will be concerned with the literature that has developed connected with the immunogenetic and tissue compatibility aspects of hand transplantation and will also draw on connected work in the more general area of vascularized composite allotransplantation (VCA) which includes face, abdominal wall uterus and larynx.
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Rejeição de Enxerto/imunologia , Sobrevivência de Enxerto/imunologia , Antígenos HLA/imunologia , Transplante de Mão , Histocompatibilidade/imunologia , Humanos , Imunização , Alotransplante de Tecidos Compostos VascularizadosRESUMO
BACKGROUND AND OBJECTIVE: Type 1 diabetes mellitus (T1DM) is the most frequent endocrinopathy in children. Its replacement therapy requires insulin, without which, death is inevitable. This treatment is expensive and a financial burden for diabetic children and their families, especially in Africa.In the absence of a national T1DM register, the purpose of this study was to describe epidemiological aspects of type 1 diabetes in children in Gabon, specify the difficulties met by the patients during the follow-up and identify factors explaining poor therapeutic observance and metabolic control. MATERIAL AND METHODS: Prospective transversal monocentric study. Data were firstly extracted from the registers of the Endocrinology Department of the University Hospital of Libreville (CHUL), Gabon, between 2010 and 2017.Secondly, patients were interviewed by telephone about the availability and cost of insulin, their self-monitoring of blood glucose, and diet. RESULTS: 306 patients (154 girls and 152 boys) were diagnosed with T1D during the study period and followed-up in the Endocrinology Department at CHUL. Mean age at diagnosis was 17⯱â¯7 years (5% of patients were over 5 years of age, 30% were >20 years old). Mean follow-up period was 4.0⯱â¯2.0 years. 16% of the patients were hospitalized at least 2 times per month for ketoacidosis.Hospital mortality was about 7%. Number of factors linked with poor therapeutic observance (high cost of treatment, lack of patients' therapeutic education, etc.) were identified. CONCLUSION: T1D prevalence is constantly increasing worldwide, but at slower pace in Africa in comparison to developed countries. Difficulties to access to high standard care and population poverty in Sub-Saharan Africa, represents a major independent factor of poor therapeutic observance.
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Background About 90% of children grow up normally and attain a final height within their genetic target. In children with intrauterine growth restriction (IUGR), up to 10% will not catch up spontaneously. Turner syndrome is often diagnosed late, and a number of growth-stunted children go undiagnosed and untreated. Objectives Our primary aim was to evaluate the prevalence of stunted growth in preschool-aged children. Our secondary aim was to evaluate growth patterns in children belonging to four ethnic groups in Dreux district, France. Methods Body weight, height and body mass index (BMI) were collected for children aged 3-5 years during systematic community visits. Birth variables, family history of short stature, maternal smoking, ethnic origin, etc. were also recorded. Pubertal status was staged as per Tanner's method. Parents were instructed to attend the hospital growth clinics if their child's height was <-2.0 standard deviation score (SDS). Results Five hundred ninety-three children were screened (301 boys, 289 girls). The mean age was 4.33 ± 0.76 standard deviation (SD) years, and 48% were Caucasians, 13.7% were North Africans, 2.5% were Black Africans, 0.8% were Asians, 1.5% included others and the ethnicity was not specified in 33.5% of the cases. 91.5% of children were term-born and 8.5% were preterm. 84.2% of children were appropriate for gestational age (AGA) and 9.4% were small for gestational age (SGA). At 5 years of age, 22.2% of macrosomic North African children were overweight. Catch-up growth was complete in 98% children, 11/540 were short statured, 8/11 attended our growth clinics (seven short statured and one micropenis) and three were started on recombinant human growth hormone (rhGH). Conclusions Growth screening programs are important and useful tools for public health. There is a need for clear objectives, proper training and automated data collection tools, along with easy access to growth specialists.
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Índice de Massa Corporal , Serviços de Saúde Comunitária , Transtornos do Crescimento/diagnóstico , Programas de Rastreamento/métodos , Saúde Pública , Pré-Escolar , Feminino , Seguimentos , Idade Gestacional , Transtornos do Crescimento/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Prognóstico , Estudos ProspectivosRESUMO
BACKGROUND: Leiomyosacromas in the Extremities are rare malignant smooth muscle tumors. Adjuvant radiation therapy, in combination with wide surgical excision allows the best chance of treatment. During the follow up pathological fractures are common complications that can be accompanied by Implant failure and defect situations that are most challenging in their management. CASE SUMMARY: We present a case of a 52-year-old female suffering from a pathological fracture of the humeral shaft 10 yr after resection of a Leiomyosarcoma and postoperative radiotherapy. She developed implant failure after retrograde nailing and another failure after revision to double plate fixation. In a two-stage revision, the implants were removed and the huge segmental defect created after debridement was bridged by a compound osteosynthesis with nancy nails and bone cement for formation of the induced membrane. Due to the previous radiotherapy treatment, 20 cm of the humeral shaft were declared devascularized but were left in situ as a scaffold. In the second stage, a vascularized fibula graft was used in combination with a double plate fixation and autologous spongiosa grafts for final reconstruction. CONCLUSION: This combinatory treatment approach led to a successful clinical outcome and can be considered in similar challenging cases.
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BACKGROUND: Donor-specific antibodies (DSAs) have a strong negative correlation with long-term survival in solid organ transplantation. Although the clinical significance of DSA and antibody-mediated rejection (AMR) in upper extremity transplantation (UET) remains to be established, a growing number of single-center reports indicate their presence and potential clinical impact. METHODS: We present a multicenter study assessing the occurrence and significance of alloantibodies in UET in reference to immunological parameters and functional outcome. RESULTS: Our study revealed a high prevalence and early development of de novo DSA and non-DSA (43%, the majority detected within the first 3 postoperative y). HLA class II mismatch correlated with antibody development, which in turn significantly correlated with the incidence of acute cellular rejection. Cellular rejections preceded antibody development in almost all cases. A strong correlation between DSA and graft survival or function cannot be statistically established at this early stage but a correlation with a lesser outcome seems to emerge. CONCLUSIONS: While the phenotype and true clinical effect of AMR remain to be better defined, the high prevalence of DSA and the correlation with acute rejection highlight the need for optimizing immunosuppression, close monitoring, and the relevance of an HLA class II match in UET recipients.
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Rejeição de Enxerto/epidemiologia , Antígenos HLA/imunologia , Transplante de Mão/efeitos adversos , Isoanticorpos/sangue , Isoantígenos/imunologia , Adolescente , Adulto , Idoso , Conjuntos de Dados como Assunto , Feminino , Seguimentos , Rejeição de Enxerto/sangue , Rejeição de Enxerto/diagnóstico , Rejeição de Enxerto/imunologia , Sobrevivência de Enxerto/imunologia , Teste de Histocompatibilidade , Humanos , Isoanticorpos/imunologia , Masculino , Pessoa de Meia-Idade , Prevalência , Doadores de Tecidos , Transplantados , Resultado do Tratamento , Adulto JovemRESUMO
After more than 120 hand-upper extremity and 37 face transplant procedures performed worldwide, vascularized composite allotransplantation (VCA) now falls under the scope of organ transplant legislation in Europe and the United States. While in the USA, VCA has been considered as standard care since 2014, VCA in Europe is still performed through clinical research trials, except in United Kingdom. However, after two decades of favourable experience with upper extremity transplantation (UET), professionals in Europe are proposing hand allotransplantation as "controlled standard" care, as opposed to face transplantation (FT), which is still a challenging activity. The European Committee on Organ Transplantation (CD-P-TO) has elaborated a position paper to provide recommendations concerning regulatory aspects for UET and FT. It is aimed at Health Authorities in charge of the oversight - and coordination - of organ donation and transplantation, and at professional groups to help them manage such complex and costly programs dedicated to properly selected patients.
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Alotransplante de Tecidos Compostos Vascularizados/métodos , Transplante de Face , Humanos , Consentimento Livre e Esclarecido , Doadores de Tecidos , Extremidade Superior/cirurgiaRESUMO
The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), provided from EMBL-EBI, has for more than three decades been responsible for archiving the world's public sequencing data and presenting this important resource to the scientific community to support and accelerate the global research effort. Here, we outline ENA services and content in 2018 and provide an overview of a selection of focus areas of development work: extending data coordination services around ENA, sequence submissions through template expansion, early pre-submission validation tools and our move towards a new browser and retrieval infrastructure.