Evolution of the Nuss procedure for the repair of Pectus Excavatum: Our experience.

The aim of this study is to collect the variables of the Nuss procedure developed by experts in this technique around the world and present their advantages and disadvantages compared to the original description of the Nuss procedure. The Nuss procedure since it was first reported, has underwent from slight to major modifications aiming to make it safer and more succesfull

Development and Validation of a Three-Dimensional Optical Imaging System for Chest Wall Deformity Measurement

Congenital chest wall deformities (CWD) are malformations of the thoracic cage that become more pronounced during early adolescence. Pectus excavatum (PE) is the most common CWD, characterized by an inward depression of the sternum and adjacent costal cartilage. A cross-sectional computed tomography (CT) image is mainly used to calculate the chest thoracic indices. Physicians use the indices to quantify PE deformity, prescribe surgical or non-surgical therapies, and evaluate treatment outcomes. However, the use of CT is increasingly causing physicians to be concerned about the radiation doses administered to young patients. Furthermore, radiographic indices are an unsafe and expensive method of evaluating non-surgical treatments involving gradual chest wall changes. Flexible tape or a dowel-shaped ruler can be used to measure changes on the anterior side of the thorax; however, these methods are subjective, prone to human error, and cannot accurately measure small changes. This study aims to fill this gap by exploring three-dimensional optical imaging techniques to capture patients’ chest surfaces. The dissertation describes the development and validation of a cost-effective and safe method for objectively evaluating treatment progress in children with chest deformities. First, a study was conducted to evaluate the performance of low-cost 3D scanning technologies in measuring the severity of CWD. Second, a multitemporal surface mesh registration pipeline was developed for aligning 3D torso scans taken at different clinical appointments. Surface deviations were assessed between closely aligned scans. Optical indices were calculated without exposing patients to ionizing radiation, and changes in chest shape were visualized on a color-coded heat map. Additionally, a statistical model of chest shape built from healthy subjects was proposed to assess progress toward normal chest and aesthetic outcomes. The system was validated with 3D and CT datasets from a multi-institutional cohort. The findings indicate that optical scans can detect differences on a millimeter scale, and optical indices can be applied to approximate radiographic indices. In addition to improving patient awareness, visual representations of changes during nonsurgical treatment can enhance patient compliance

International guidelines for the management and treatment of Morquio A syndrome.

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome

Fetal alcohol syndrome : whose child? : shared responsibility

iv, 84 leaves ; 29 cm. --This multigenre, multivocal project is narrated from the point of view of a teacher, and portrays a child living with F AS. A composite child has been created from the stories of several real children. The perspective shifts back and forth between the subjective and objective, emotional and rational, impersonal and intimate. It includes confidential school documents and communications, narrative reflection, songs and poetry, and juxtaposes these with political, historical, and research data. Awareness of the characteristics of F AS is growing in medical and educational communities, and in the community at large. Diagnosis of F AS requires specialized experience, and is a source of controversy, yet seeking diagnosis the first step towards intervention to reduce secondary disabilities. Educators are learning how children with F AS are cognitively, socially and behaviourally different, and what can help them in school and in society. Community service providers are combining efforts to promote awareness, prevention, and support for children and their families who live with F AS. Substance abuse and addiction play an important role in creating F AS, and the social conditions that create addictions must be addressed in order to prevent F AS. Prevention is ultimately dependent on the will of people and their governments to change the conditions of life for those who live with meager resources.Some pencil marking in book, shows up on the occasional page

XXII International Conference on Mechanics in Medicine and Biology - Abstracts Book

This book contain the abstracts presented the XXII ICMMB, held in Bologna in September 2022. The abstracts are divided following the sessions scheduled during the conference

Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life. XLH impacts physical function, mobility, and quality of life, and is associated with substantial socioeconomic burden and health care resource utilization. As the burden of illness varies with age, an appropriate transition of care from childhood and adolescence to adulthood is necessary to meet growth-related changes and minimize long-term sequelae of the condition. Previous XLH guidelines that encompassed transition of care have focused on Western experience. Regional differences in resource availability warrant tailoring of recommendations to the Asia-Pacific (APAC) context. Hence, a core expert panel of 15 pediatric and adult endocrinologists from nine countries/regions across APAC convened to formulate evidence-based recommendations for optimizing XLH care. A comprehensive literature search on PubMed using MeSH and free-text terms relevant to predetermined clinical questions on diagnosis, multidisciplinary management, and transition of care of XLH revealed 2171 abstracts. The abstracts were reviewed independently by two authors to shortlist a final of 164 articles. A total of 92 full-text articles were finally selected for data extraction and drafting the consensus statements. Sixteen guiding statements were developed based on review of evidence and real-world clinical experience. The GRADE criteria were used to appraise the quality of evidence supporting the statements. Subsequently, a Delphi technique was utilized to rate the agreement on statements; 38 XLH experts (15 core, 20 additional, 3 international) from 15 countries/regions (12 APAC, 3 EU) participated in the Delphi voting to further refine the statements. Statements 1-3 cover the screening and diagnosis of pediatric and adult XLH; we have defined the clinical, imaging, biochemical, and genetic criteria and raised red flags for the presumptive and confirmatory diagnosis of XLH. Statements 4-12 tackle elements of multidisciplinary management in XLH such as therapeutic goals and options, composition of the multidisciplinary team, follow-up assessments, required monitoring schedules, and the role of telemedicine. Treatment with active vitamin D, oral phosphate, and burosumab is discussed in terms of applicability to APAC settings. We also expound on multidisciplinary care for different age groups (children, adolescents, adults) and pregnant or lactating women. Statements 13-15 address facets of the transition from pediatric to adult care: targets and timelines, roles and responsibilities of stakeholders, and process flow. We explain the use of validated questionnaires, desirable characteristics of a transition care clinic, and important components of a transfer letter. Lastly, strategies to improve XLH education to the medical community are also elaborated in statement 16. Overall, optimized care for XLH patients requires prompt diagnosis, timely multidisciplinary care, and a seamless transfer of care through the coordinated effort of pediatric and adult health care providers, nurse practitioners, parents or caregivers, and patients. To achieve this end, we provide specific guidance for clinical practice in APAC settings. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.ope

Anuário Científico do Centro Hospitalar Universitário São João 2016

Anuário da produção científica do Centro Hospitalar Universitário de São João do ano 2016.N/

Craniofacial care in Brazil : evaluation and suggestions to improve quality through the Unified Health System

Orientador: Vera Lucia Gil da Silva LopesTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias MedicasResumo: As primeiras ações para inclusão da atenção a pessoas com anomalias craniofaciais (ACF) no Sistema Único de Saúde (SUS) ocorreram na década de 1990 e culminaram com a criação da Rede de Referência no Tratamento de Deformidades Craniofaciais (RRTDCF). Esta rede foi avaliada por Monlleó em 2004, momento em que foram identificados centros de atendimento a pessoas com ACF vinculados ao SUS, mas não à RRTDCF. Objetivos: (1) avaliar os centros de ACF não-RRTDCF; (2) discutir a política de atenção à saúde para ACF do Brasil; (3) elaborar cadastro dos centros estudados e (4) elaborar proposta de banco de dados de fendas orofaciais para o Brasil. Resultados: 82 centros de atendimento a pessoas com ACF participaram da avaliação. Estes centros estão concentrados no Sudeste e em universidades e compreendem serviços isolados, multiprofissionais e associações de pais. Apenas seis serviços multiprofissionais seguem critérios internacionais de composição de equipes. Nestes, odontólogos e cirurgiões são os especialistas mais freqüentes. Geneticistas clínicos estão envolvidos com aconselhamento genético em 35 serviços, enquanto em 30, outros profissionais realizam esta atividade. Sessenta e dois centros aderiram ao cadastro proposto. O banco de dados consiste em um projeto de registro clínico e familial de pessoas com fendas orofaciais atendidas em unidades da RRTDCF. Em torno deste, cinco projetos satélites foram elaborados: (1) banco de DNA; (2) avaliação da organização interna das unidades; (3) banco de profissionais de saúde e de protocolos de tratamento; (4) estudos de seguimento pós-cirúrgico, morbidade e mortalidade; (5) avaliação de satisfação dos usuários. Conclusões: os centros não-RRTDCF se sobrepõem à RRTDCF quanto à distribuição, procedimentos, clientela e financiamento. Iniqüidades, disparidades regionais e falta de integralidade permanecem como problemas. Acredita-se que a superação desses problemas requer a reformulação da política de atenção a pessoas com ACF e, para tanto, apresentam-se diretrizes. O cadastro de centros é uma ferramenta pública para minorar dificuldades de acesso a informações. Por sua vez, o banco de dados poderá fornecer subsídios para avaliação contínua dos serviços e para a reformulação da política de saúde para ACF no SUSAbstract: Health care for persons with craniofacial anomalies (CFA) officially started in Brazil in the nineties. It was consolidated through the Reference Network for Craniofacial Treatment (RRTDCF). The RRTDCF was evaluated by Monlleo in 2004 when several non-RRTDCF units operating in the Unified Health System (SUS) were identified. Aims: (1) to evaluate health care provided through non-RRTDCF units; (2) to inform the debate about craniofacial health care policy in Brazil; (3) to build up a record on CFA units; (4) to build up a Brazilian database on orofacial clefts. Results: 82 non-RRTDCF units took part of the survey. They are mainly located in the southeast, and in universities. They are funded by the government and comprise independent clinics, multiprofessional teams and parental associations. Only 6 multiprofessional units meet the international criteria for minimal CFA teams. Clinical geneticists are involved in genetic counselling in 35 units, however in 30 it is provided by untrained professionals. Sixty two units agreed to participate in the national record proposed. The Brazilian database on orofacial clefts was designed to record clinical and familial information on patients assisted through the RRTDCF. Additionally, five satellite projects were built: (1) biobank of DNA; (2) general care assessment; (3) database of healthcare professionals and assessment of treatment protocols; (4) follow-up studies on surgical treatment and morbidity/mortality and (5) patient/parent satisfaction studies. Conclusion: non-RRTDCF units overlap RRTDCF regarding distribution, treatment provided, type of CFA treated, and funding. The current system does not ensure equity and coordination of care, and keeps up regional disparities. It is believed that these problems may be overcome through changes in the current national health policy for CFA in Brazil and suggestions are given in this regard. The national record on CFA units is a tool in the public interest and can improve equity of access to services. The database, on the other hand, is an achievable strategy to set up appraisal and audit systems and to support the reformulation of health policy for persons with CFA in the SUSDoutoradoGenetica MedicaDoutor em Ciências Médica