Covid-19 and upper limb anomalies in newborns: a reason for concern? / Covid-19 e anomalias do membro superior em recém-nascidos: um motivo de preocupação?

ABSTRACT The relationship between viral infection in pregnancy and congenital anomalies is reported in the medical literature. The risks for the SARS-CoV-2 virus interfering with implantation, growth, and fetal development are not yet known. Many drugs with potential teratogenic risk are being used for treatment. The studies with the vaccine excluded pregnant women from clinical trials, currently preventing high-quality evidence. We present a review of the most common anomalies in the upper extremities caused by congenital viral infection and the risks of anti-COVID-19 therapy and vaccine during pregnancy. We aim to alert orthopedic and hand surgeons to the possibility of these conditions in the future. Level of evidence V; Narrative review.

RESUMO A relação entre infecção viral na gravidez e anomalias congênitas é relatada na literatura médica. Os riscos de o vírus SARS-CoV-2 interferir na implantação, crescimento e desenvolvimento fetal ainda não são totalmente conhecidos. Muitos medicamentos com potencial de risco teratogênico estão sendo usados para o tratamento. Os estudos clínicos com a vacina excluíram gestantes, o que tem impedido obter evidências de alta qualidade atualmente. Apresentamos uma revisão das anomalias mais comuns nos membros superiores causadas por infecção viral congênita e os riscos da terapia anti-COVID-19 e da vacina durante a gravidez. Nosso objetivo é alertar os cirurgiões ortopédicos e de mão para a possibilidade desses problemas no futuro. Nível de evidência V; Revisão narrativa.

Genetic analysis of 21 fetuses with high suspicion of congenital skeletal malformation by prenatal ultrasound / 中华围产医学杂志

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

Study of low-dose CT scan volume rendering technology in evaluating the physeal bar in children / 中华骨科杂志

Objective:To evaluate the feasibility of CT volume rendering technology in the assessment of the physeal bar in children.Methods:A retrospective analysis of the relevant CT data of 20 patients with physeal bar from January 2019 to December 2021, 13 boys and 7 girls, age 9.94±2.91 years. The etiology included 17 cases of trauma, 1 cases of tumor, and 2 cases of unknown. The affected sites included 9 cases of distal femur, 5 cases of proximal tibia, 3 cases of distal tibia, and 3 cases of distal radius. Evaluate using volume rendering technology and traditional surface reconstruction technology respectively and the index include the size and type of physeal bar.Results:All the children were successfully examined at one time, and none of them required sedation. The average exposure time was 3.81±0.83 s. During scanning, only low-dose radiation was performed on the affected joints, and routine radiation protection was performed. Using volume rendering technology to evaluate the proportion of the physeal bar, the results obtained by the three testers were 25.36%±15.36%, 24.75%±16.18%, 26.70%±17.72%, and the intraclass correlation coefficient value ( ICC) was 0.976, the three repeated measurements by one tester were 25.36%±15.36%, 25.41%±15.20%, 25.74%±16.00% ( ICC=0.990). Compared with the traditional curved planar reconstruction technical evaluation, the results obtained by the three testers were 28.36%±16.74%, 23.66%±19.87%, 35.25%±15.92% ( ICC=0.737), the three repeated measurement results by one tester were 28.36%±16.74%, 31.66%±13.06%, 30.89%±12.52% ( ICC=0.875). The volume rendering technology was better than the curved planar reconstruction technique. Paired t test was performed on the measurement results of three evaluators and the three repeated measurements of the same evaluator, and the differences were statistically significant ( P<0.05). The same results were acquired by using volume rendering technology to evaluate the type of phseal bar with three testers; but there were 18 cases had the same results by using curved planar reconstruction technology and 2 cases had differences, showing the volume rendering technology was more accurate. Conclusion:Low-dose CT scanning volume rendering technology is an effective method to evaluate the physeal bar in children. It can more intuitively and accurately evaluate the proportion and type of the bar while reducing the radiation exposure of children. The consistency with inter-group and intra-group is better than traditional curved planar reconstruction technique with good reproducibility and clinical significance.

Agenesia esternal total: reconstrucción esternal con placas absorbibles y pericardio bovino en un paciente de 4 años / Total sternal cleft: sternal reconstruction with absorbable plaques and bovine pericardium in a 4-year-old patient

La agenesia esternal es una rara malformación del desarrollo embrionario del esternón, que puede estar o no relacionado con otras anomalías congénitas. Se presenta el caso de un paciente de 4 años de edad con agenesia esternal total, que fue llevado a reconstrucción de la pared torácica anterior con material protésico absorbible y pericardio bovino, logrando la adecuada estabilidad de la pared torácica y la corrección de la función de la misma, con una evolución satisfactoria después de dos años de seguimiento

Sternal cleft is a rare malformation of the embryonic development of the sternum, which may or may not be related to other congenital anomalies. We present the case of a 4-year-old patient with total sternal cleft, who underwent reconstruction of the anterior chest wall with absorbable prosthetic material and bovine pericardium, achieving adequate stability and correction of the function of the chest wall, with a satisfactory evolution after two years of follow-up

Deficiencia congénita de la tibia. Presentación de caso / Congenital tibial deficiency. Case presentation

RESUMEN El objetivo de este estudio es la presentación de un caso poco común. El paciente es atendido en el servicio de neonatología del Hospital Universitario "Mártires del 9 de Abril", en el transcurso del presente año, con deficiencia congénita de la tibia. El presente artículo se realiza con el propósito de actualizar los conocimientos sobre dicha situación y brindar posibilidades de conducta.

ABSTRACT The objective of this study is to present an uncommon case. The patient is treated in the neonatology service of the University Hospital "Martyrs of April 9", during the current year, with congenital tibia deficiency. This article is written with the purpose of updating knowledge about this medical condition and providing possibilities of treatment.

Trombocitopenia con ausencia de radios. Presentación de un caso / Thrombocytopenia with Absence of Radius. Case Presentation

Resumen El síndrome de trombocitopenia con ausencia de radios es una rara malformación congénita caracterizada por aplasia radial bilateral con presencia de ambos pulgares y trombocitopenia. Suelen estar presentes malformaciones en miembros inferiores, además de padecimientos cardiovasculares, gastrointestinales, neurológicos y vasculares. Se presenta el caso de una niña con ausencia bilateral de radios, constatada al nacimiento, que ingresó a los 4 meses por ligera púrpura petequial generalizada y trombocitopenia moderada, sin otras anomalías asociadas, se realizaron varios estudios que incluyeron un medulograma. Se efectuó el diagnóstico de trombocitopenia con ausencia de radios. La evolución del caso ha sido satisfactoria y su atención médica se ha limitado a chequeo clínico y hematológico periódico; así como seguimiento por la especialidad de ortopedia. El objetivo de esta presentación es dar a conocer el comportamiento clínico de este raro trastorno y constituye el primer caso relatado en Cienfuegos.

Abstract The syndrome of thrombocytopenia with absence of radius is an uncommon congenital malformation characterized by bilateral radial aplasia with presence of both thumbs and thrombocytopenia. Malformations are usually present in lower limbs, in addition to cardiovascular, gastrointestinal, neurological and vascular diseases. A case of a girl with a bilateral radio absence, confirmed at birth is presented, who was admitted aged 4 months due to slight generalized petechial purpura and moderate thrombocytopenia, without other associated anomalies. Several studies were carried out that included a medullogram. The diagnosis of thrombocytopenia was made with absence of radii. The evolution of the case has been satisfactory and his medical attention has been limited to periodic clinical and hematological check-ups; as well as monitoring by the specialty of orthopedics. The objective of this presentation is to show the clinical behavior of this unusual disorder which is the first case reported in Cienfuegos.

Bicipital aponeurosis. Anatomical study and clinical implications / Aponeurose bicipital. Estudo anatômico e implicações clínicas

ABSTRACT Objective: The aim of this study was to analyze the anatomic variations of the bicipital aponeurosis (BA) (lacertus fibrosus) and its implications for the compression of the median nerve, which is positioned medially to the brachial artery, passing under the bicipital aponeurosis. Methods: Sixty upper limbs of 30 cadavers were dissected, 26 of which were male and four, female; of the total, 15 had been previously preserved in formalin and glycerine and 15 were dissected fresh in the Laboratory of Anatomy. Results: In 55 limbs, short and long heads of the biceps muscle contributed to the formation of the BA, and the most significant contribution was always from the short head. In three limbs, only the short head contributed to the formation of the BA. In two limbs, the BA was absent. The length of the bicipital aponeurosis from its origin to its insertion ranged from 4.5 to 6.2 cm and its width, from 0.5 to 2.6 cm. In 42 limbs, the BA was thickened; of these, in 27 it was resting directly on the median nerve, and in 17 a high insertion of the humeral head of the pronator teres muscle was found, and the muscle was interposed between the BA and the median nerve. Conclusion: These results suggest that a thickened BA may be a potential factor for nerve compression, by narrowing the space through which the median nerve passes.

RESUMO Objetivo: Analisar as variações anatômicas da aponeurose bicipital (lacertus fibrosus) e suas implicações na compressão do nervo mediano, que passa sob a aponeurose bicipital (AB) e se posiciona medialmente à artéria braquial. Método: Foram dissecados 60 membros superiores de 30 cadáveres adultos, 26 do sexo masculino e quatro do feminino; 15 haviam sido previamente preservados em formol e glicerina e 15 foram dissecados a fresco no Laboratório de Anatomia. Resultados: Em 55 membros, a AB recebia contribuição das cabeças curta e longa do musculo bíceps braquial, a contribuição mais significativa foi sempre da cabeça curta. Em três membros recebia contribuição exclusiva da cabeça curta. Em dois membros, a AB estava ausente. O comprimento da AB desde sua origem até sua inserção variou entre 4,5 e 6,2 cm e sua largura entre 0,5 e 2,6 cm. Em 42 membros, a AB apresentava-se espessada, em 27 apoiava-se diretamente sobre o nervo mediano e em 17 havia inserção alta da cabeça umeral do músculo pronador redondo, de forma que o músculo ficava interposto entre a AB e o nervo mediano. Conclusão: Esses resultados sugerem que a AB espessada pode ser um dos fatores potenciais da compressão nervosa, por estreitar o espaço no qual passa o nervo mediano.

Research progress on the clinical significance of sagittal alignment and balance in cervical spine / 中华外科杂志

Though great progress on spinal sagittal alignment has been seen recently, which focuses on the lumbar spine-pelvic region and the whole spine, while there is a few research mainly concentrated on the cervical spine. In recent years, a growing number of researchers have been exploring the changes in the compensation of cervical sagittal alignment and their effect on surgery, and the preliminary results of these researches are satisfactory. The present review focuses on the measurement of sagittal plane parameters of cervical spine, changes of sagittal alignment in cervical spine disorders, and its effect on cervical surgery.

Oxidative stress and immune system analysis after cycle ergometer use in critical patients

OBJECTIVE: The passive cycle ergometer aims to prevent hypotrophy and improve muscle strength, with a consequent reduction in hospitalization time in the intensive care unit and functional improvement. However, its effects on oxidative stress and immune system parameters remain unknown. The aim of this study is to analyze the effects of a passive cycle ergometer on the immune system and oxidative stress in critical patients. METHODS: This paper describes a randomized controlled trial in a sample of 19 patients of both genders who were on mechanical ventilation and hospitalized in the intensive care unit of the Hospital Agamenom Magalhães. The patients were divided into two groups: one group underwent cycle ergometer passive exercise for 30 cycles/min on the lower limbs for 20 minutes; the other group did not undergo any therapeutic intervention during the study and served as the control group. A total of 20 ml of blood was analysed, in which nitric oxide levels and some specific inflammatory cytokines (tumour necrosis factor alpha (TNF-α), interferon gamma (IFN-γ) and interleukins 6 (IL-6) and 10 (IL-10)) were evaluated before and after the study protocol. RESULTS: Regarding the demographic and clinical variables, the groups were homogeneous in the early phases of the study. The nitric oxide analysis revealed a reduction in nitric oxide variation in stimulated cells (p=0.0021) and those stimulated (p=0.0076) after passive cycle ergometer use compared to the control group. No differences in the evaluated inflammatory cytokines were observed between the two groups. CONCLUSION: We can conclude that the passive cycle ergometer promoted reduced levels of nitric oxide, showing beneficial effects on oxidative stress reduction. As assessed by inflammatory cytokines, the treatment was not associated with changes in the immune system. However, further research in a larger population is necessary for more conclusive results.

Fisioterapia em jovem gestante com sequelas pós Síndrome de Guillain-Barré: relato de caso / Physical therapy in a pregnant young woman with sequels of Guillain-Barré syndrome: case report

OBJETIVOS: Descrever a avaliação, as condutas fisioterapêuticas e a evolução de uma gestante jovem com Síndrome de Guillain-Barré. DESCRIÇÃO DO CASO: Uma jovem de 20 anos, com diagnóstico de Síndrome de Guillain Barré há seis anos, primigesta com 12 semanas de idade gestacional, buscou atendimento na clínica escola de fisioterapia da Univates, em Lajeado, Rio Grande do Sul, por queixa de dificuldades na marcha e dor lombopélvica. Na avaliação, verificou-se hipotrofia de membros inferiores, denervação peroneal e tibial, fraqueza de musculatura abdominal e paravertebral, hipercifose torácica, hiperlordose lombar, anteversão pélvica e perda de equilíbrio estático e dinâmico. Mediante confirmação da gestação, o tratamento priorizou exercícios para ajuste postural. O aumento da força abdominal e da propriocepção consciente possibilitaram a deambulação com o auxílio de uma muleta. Verificava-se diminuição de cerca de 20 graus de hiperlordose lombar, comparandose o início e o final de uma mesma sessão de fisioterapia, avaliada por biofotogrametria computadorizada. Ao final de 16 semanas de fisioterapia houve aumento de força muscular de extensores de joelho e flexores de quadril bilateralmente, passando de uma média de 3,5 e 3 para 5 e 4 graus, respectivamente. O parto foi natural e sem complicações, com 37,5 semanas de gestação, e o neonato saudável. CONCLUSÕES: O tratamento fisioterapêutico de uma gestante jovem com sequelas de Síndrome de Guillain-Barré foi efetivo para modulação do tônus muscular, reeducação respiratória, melhora de controle de tronco, aumento do equilíbrio estático, redução das alterações posturais e diminuição da dor lombopélvica, contribuindo para o parto natural.

AIMS: To describe the assessment, the prescription of physical therapy procedures, and the outcome of a young pregnant woman with GuillainBarré syndrome. CASE DESCRIPTION: A 20-year-old, 12-week pregnant, primiparous woman diagnosed with Guillain-Barré syndrome 6 years ago presented with gait disorders and lumbopelvic pain and sought medical care at the teaching outpatient clinic of physical therapy affiliated with UNIVATES, located in Lajeado, state of Rio Grande do Sul, Brazil. The examination revealed lower limb hypotrophy, peroneal and tibial enervation, abdominal and paravertebral muscle weakness, thoracic hyperkyphosis, lumbar hyperlordosis, anterior pelvic tilt, and loss of static and dynamic balance. After pregnancy was confirmed, the treatment focused on postural adjustments. The increase in both abdominal strength and proprioception allowed crutch walking. Lumbar hyperlordosis, measured by computed biophotogrammetry, decreased by approximately 20 degrees, comparing the beginning and the end of the same physical therapy session. After 16 weeks of physical therapy, there was increase in the muscle strength of knee extensors and hip flexors bilaterally, from an average of 3.5 and 3 to 5 and 4 degrees, respectively. The patient had an uneventful natural delivery at 37.5 weeks' gestation, and the neonate was healthy. CONCLUSIONS: Physical therapy received by a young pregnant woman with sequelae of Guillain-Barré syndrome was effective in the modulation of muscle tone, respiratory retraining, enhancement of trunk control, improvement of static balance, reduction of postural changes, and relief of lumbopelvic pain, eventually contributing to natural delivery.

Desafios clínicos e psicossociais no tratamento de um paciente com síndrome de Proteus / Clinical and psychosocial challenges in the treatment of a patient with Proteus syndrome

A Síndrome de Proteus é uma rara associação de malformações que podem afetar vários tecidos e órgãos. É caracterizada por macrodactilia bilateral, hipertrofia craniana, anomalias ósseas, escoliose, hamartomas de tecidos moles, nevo verrucoso pigmentar, anormalidades viscerais e outras hipertrofias. Há pouco mais de 200 casos notificados em todo o mundo. O presente artigo relata a evolução clínica de um paciente pediátrico com essa síndrome. A criança apresentou desnutrição grave associada ao extremo gigantismo de membros inferiores. Além disso, apresentou repercussões psicossociais relacionadas à exclusão social. A doença tornou-se mais grave e progrediu como síndrome consumptiva. Finalmente, os pais concordaram com a amputação dos membros inferiores hipertróficos. Um ano após as amputações, a criança estava totalmente reabilitada, protetizada dos membros amputados, com melhora nutricional, além de apresentar notória recuperação psicológica e reinserção social, o que representou melhora significativa da qualidade de vida para o paciente.

Proteus syndrome is a rare combination of malformations that can affect several tissues and organs. It is characterized by bilateral macrodactyly, cranial hypertrophy, bone anomalies, scoliosis, soft-tissue hamartomas, verrucous pigmented nevus, visceral abnormalities and other forms of hypertrophy. Just over 200 cases have been reported worldwide. This article reports on the clinical course of a pediatric patient with this syndrome. The child had severe malnutrition associated with extreme gigantism of the lower limbs and also psychosocial problems related to social exclusion. As the disease progressed it exacerbated and evolved into a wasting syndrome. After several years, the parents agreed to amputation of the hypertrophic lower limbs. One year after the amputations the child had been rehabilitated and had adapted to prostheses, with nutritional improvement and notable psychological recovery and social reintegration, which represented a significant improvement in his quality of life.

Split-hand/foot malformation (SHFM) e manifestações atípicas: desafio diagnóstico / Split-hand/foot malformation (SHFM) and atypical manifestations: diagnostic challenge

A Split-hand/foot Malformation, muitas vezes aceita como sinônimo de ectrodactilia, é uma malformação com diferentes padrões de hereditariedade que pode se apresentar isoladamente ou como parte de síndromes de maior expressão clínica. Discutimos as peculiaridades do seu diagnóstico e das manifestações associadas ao quadro. Descrevemos o caso esporádico de um paciente com ectrodactilia que desenvolveu uma Síndrome Mielodisplásica associada a manifestações reumatológicas e a Trombose Venosa Profunda. Consideramos o paciente como portador da forma isolada da Split-hand/foot Malformation e as suas outras manifestações como consequências atípicas da Síndrome Mielodisplásica.

The Split-hand/foot Malformation often accepted as a synonym for ectrodactyly is a malformation with different patterns of heredity that can present it individually or as part of syndromes with most clinical significance. We discussed the peculiarities of their diagnosis and clinical manifestations associated with the condition presented. We describe a sporadic case of a patient with ectrodactyly who developed a myelodysplastic syndrome associated with rheumatic manifestations and Deep VeinThrombosis. We considered the patient as suffering from an isolated form of Split-hand/foot Malformation and its other manifestations as atypical consequences of myelodysplastic syndrome.

Diagnóstico pré-natal da osteogênese imperfeita tipo 2: relato de caso / Prenatal diagnosis of osteogenesis imperfecta type 2: case report

Objetivos: Descrever um caso de diagnóstico pré-natal da forma letal de osteogênese imperfeita. Descrição do caso: Uma gestante de 26 anos, de cor negra, casada, do lar, previamente hígida, em sua terceira gestação, foi encaminhada com idade gestacional de 29 semanas e cinco dias ao Serviço de Medicina Fetal do Hospital Universitário de Santa Maria devido à hipótese de crescimento intrauterino restrito. A ultrassonografia obstétrica complementada pela ressonância magnética permitiu o diagnóstico de osteogênese imperfeita tipo 2, com crescimento intrauterino restrito, peso fetal abaixo do percentil 3 e deformidades ósseas importantes. A gestante foi submetida à cesariana com 33 semanas de idade gestacional. O recém-nascido, com peso de 1.120 g, foi a óbito por insuficiência respiratória logo após o nascimento.Conclusões: A osteogênese imperfeita é uma doença do tecido conjuntivo que cursa com formas letais e não letais, e o diagnóstico por imagem no pré-natal possibilita o aconselhamento familiar quanto ao prognóstico e a programação para o parto. O relato deste caso é importante para a comunidade científica, visando ao apoio no manejo de casos semelhantes.

Aims: To describe a case of prenatal diagnosis of the lethal form of osteogenesis imperfecta.Case description: A 26 year-old pregnant woman, black, married, housewife, previously healthy, in her third pregnancy, was referred with 29 weeks and five days of gestation to the Fetal Medicine Service of the University Hospital of Santa Maria, due to hypothesis of intrauterine growth restriction. Obstetric ultrasound, complemented by magnetic resonance, allowed the diagnosis of osteogenesis imperfecta type 2, with intrauterine growth restriction, fetal weight below the 3rd percentile and major bone deformities. The patient underwent a cesarean section at 33 weeks and four days of gestation. The newborn infant, weighting 1120 g, died due to respiratory failure immediately after birth.Conclusions: Osteogenesis imperfecta is a connective tissue disease that courses with lethal and nonlethal forms, and prenatal diagnostic imaging enables family counseling regarding prognosis and programming the type of delivery. Reporting this case is important to the scientific community, in order to support the management of similar cases.

Deformidad de Madelung, a propósito de una serie de casos / Déformation de Madelung, à propos d'une série / Madelung's deformity, apropos of a case series

Introducción: la deformidad de Madelung es consecuencia de una alteración de crecimiento de la fisis distal del radio. Puede ocasionar dolor y pérdida de la función. Objetivos: revisar el estado actual de la enfermedad y conocer los resultados de una serie de pacientes, que han recibido tratamiento quirúrgico. Métodos: se trata de una serie de casos de pacientes (12 pacientes) recopilados entre los años 2005-2012, que fueron tratados en la consulta de cirugía de mano (entre 2005 y 2012). Los procedimientos quirúrgicos usados fueron osteotomía de radio con placa o con tutor, osteotomía de cúbito (de acortamiento y corrección angular) y resección distal del cúbito (Darrach). Se estudiaron variables de movilidad, radiología y satisfacción de la cirugía. Se analizaron los datos radiológicos de inclinación cubital y de inclinación del semilunar, además, de un análisis cualitativo de la corrección del cúbito. Resultados: en los 8 pacientes operados (11 muñecas: 9 corrección de la angulación del radio mediante osteotomías, y 2 con tutor), los resultados estéticos fueron buenos. En cuanto a la función, todos los parámetros de movilidad mejoraron. En las 7 muñecas en las que se realizó Darrach, mejoró el aspecto dorsal de la muñeca. Luego de poco tiempo no se observó traslación cubital del carpo. El aspecto radiológico mejoró notablemente: la inclinación cubital del radio cambió de 37º prequirúrgico a 28º posquirúrgico, y el ángulo de fosa del semilunar de 55º a 36º, respectivamente. Conclusiones: lo reducido de la serie y el poco tiempo de seguimiento constituye una limitación de este estudio, aunque se muestra que con la combinación oportuna de algunas técnicas de cirugía, se pueden lograr mejorías estéticas y funcionales en la deformidad de Madelung(AU)

Introduction: Madelung deformity is due to a growth disturbance of distal radius physis. It can cause pain and loss of function. Objectives: to review the current status of this disease and the results of a series of patients who received surgical treatment. Methods: this is a case series of patients (12 patients) collected from 2005 to 2012, which were treated in hand surgery consultation. Radio osteotomy plate or guardian ulna osteotomy (shortening and angular correction) and distal resection of the ulna (Darrach) were the surgical procedures used. Mobility variables, radiology, and surgery satisfaction were studied. Ulnar inclination and the lunate tilt radiological data were analyzed; also a qualitative analysis of the correction of the ulna was conducted. Results: in the 8 patients operated (11 wrists: 9 angle correction by osteotomy of the radius, and 2 with tutor), the aesthetic results were good. In terms of function, all mobility parameters improved. In the 7 cases of wrist where Darrach was performed, the dorsal aspect of the wrist improved. After a short time, no ulnar translation of the carpus was observed. The radiographic appearance markedly improved: the ulnar inclination changed from preoperative 37º to postoperative 28º and the lunate fossa angle changed from 55° to 36°, respectively. Conclusions: the smallness of the series and the short follow-up time is a limitation of this study, although it is shown that with the right combination of some surgical techniques aesthetic and functional improvements in Madelung deformity can be achieved(AU)

Introduction: la déformation de Madelung est due à une altération de la croissance distale du radius. Elle peut provoquer une douleur et une perte de la fonction. Objectifs: le but de cette étude est de réviser l'état actuel de la maladie et de connaître les résultats d'une série de patients ayant subi un traitement chirurgical. Méthodes: il s'agit d'une série de 12 patients traités entre 2005 et 2012 au Service de chirurgie de main. Les gestes chirurgicaux utilisés ont compris l'ostéotomie du radius par plaque ou par tuteur, l'ostéotomie de cubitus (raccourcissement et correction angulaire), et la résection distale du cubitus (Darrach). Des variables de mobilité, de radiologie et de satisfaction de la chirurgie ont été examinées. Les données radiologiques de la pente du cubitus et de la pente du semi-lunaire, ainsi qu'une analyse qualitative de la correction du cubitus, ont été évaluées. Résultats: on a réussi des résultats esthétiques très bons chez les 8 patients opérés (11 poignets: 9 corrections de l'angulation du radius par ostéotomie, et 2 corrections par tuteur. Tous les paramètres de mobilité par rapport au plan fonctionnel sont améliorés. L'image dorsale des 7 poignets opérés par la technique de Darrach est améliorée. Puis à près, la translation cubitale du carpe a disparu. L'image radiologique est remarquablement améliorée ; il y a eu un changement pré- et postopératoire de la pente cubitale du radius respectivement de 37° à 28°, et de l'angle de la fossette du semi-lunaire respectivement de 55° à 36°. Conclusions: quoique la faiblesse du nombre de la série et du temps du suivi ait limité cette étude, on a démontré que la combinaison de quelques techniques chirurgicales peut aboutir à l'amélioration esthétique et fonctionnelle de la déformation de Madelung(AU)

Back school program for back pain: education or physical exercise? / Escola de postura para dor de coluna: educação ou exercício físico?

Introduction: Back school consists in an educational program aimed at preventing back pain and rehabilitating individuals with degenerative disorders. Objective: To evaluate the effects of back school components (education and/ or exercise therapy) in relieving pain and improving quality of life in patients with chronic back pain. Method: Forty-one patients were randomized and allocated into four groups: (i) a back school group (educational lessons and physical exercise); (ii) an educational lessons group; (iii) a physical exercise group and (iv) a waiting list control group . Patients were evaluated before and after treatment with a visual analogue scale, a short form quality-of-life questionnaire, a Roland Morris disability questionnaire and a finger-floor distance test. Results: The back school group showed significant reduction in scores in the visual analogue scale and the Roland Morris disability questionnaire and an increase in the short- form quality of life questionnaire. Conclusion: The effectiveness of back school programs in chronic back pain patients seems to be due to the physical exercise component and not on account of the educational lessons.

Introdução: A escola de postura consiste em um programa educacional visando a prevenir dores na coluna e reabilitar indivíduos com desordens degenerativas. Objetivo: Examinar os efeitos dos componentes da escola de postura (educação e/ou exercícios terapêuticos) para aliviar dor e melhorar a qualidade de vida dos pacientes com dor lombar crônica. Método : Quarenta e um pacientes foram randomizados e alocados em quatro grupos: (i) grupo escola de postura (lições educativas e exercícios terapêuticos); (ii) grupo lições educativas; (iii) grupo exercício terapêutico e (iv) grupo controle (pacientes da lista de espera). Avaliaram-se os pacientes no início e no fim do tratamento usando-se: escala visual analógica, questionário de qualidade de vida abreviado, questionário de incapacidade de Roland Morris e teste distância dedo-chão. Resultados: O grupo escola de postura apresentou redução significativa nos escores da escala visual analógica e nos do questionário de incapacidade de Roland Morris, além do aumento dos escores de saúde do questionário de qualidade de vida abreviado. Conclusão: A eficácia do programa da escola de postura no tratamento de pacientes com dor lombar crônica parece ser devido ao programa de exercício terapêutico e não as lições educativas.

Elaboration and assessment of clinical protocols to support the evaluation of stand-to-sit activity / Elaboração e Avaliação dos Protocolos para auxílio na avaliação da atividade de sentar

Introduction Evaluation of sit-to-stand and stand-to-sit activities is used by physical therapists in patients with neurological and musculoskeletal disorders. Sit-to-stand activity presents different descriptions of phases and movements; however the phases of stand-to-sit activity have not been established yet.Objectives To describe the movements during stand-to-sit activity and create an evaluation protocol.Materials and methods Stand-to-sit activity was described on anterior and lateral views based on the observation of 27 healthy subjects. The body segments chosen to analyze were feet, ankles, knees, hips, pelvis, trunk, spine, upper limbs, head and cervical spine. The movements of body segments were described as adduction and abduction, eversion and inversion, valgus and varus, neutral position and asymmetry. The protocol was assessed with questionnaires answered by 12 physiotherapists experts in the area.Results Stand-to-sit activity was divided in 4 phases: 1- "Neutral position", 2- "Pre-squat", 3- "Squat" and 4- "Stabilization". Two models of protocols were developed considering 5 body segments to the anterior view and 7 segments for the lateral view.Conclusion Stand-to-sit activity was described in 4 phases with sequential movements of each body segment. These protocols allow physiotherapists to identify unusual movements of body segments during the stand-to-sit activity.

Introdução Levantar e sentar são movimentos comuns da vida diária, e sua avaliação é utilizada frequentemente por fisioterapeutas em pacientes com disfunções neurológicas e musculoesqueléticas. A atividade de levantar apresenta diferentes descrições quanto às fases e movimentos, enquanto a atividade de sentar ainda não apresenta suas fases estabelecidas.Objetivos Descrever os movimentos durante a atividade de sentar e elaborar protocolos de auxílio à avaliação.Materiais e métodos Esta atividade foi descrita nas vistas anterior e lateral com base nos achados de um levantamento bibliográfico e na observação das filmagens de 27 indivíduos funcionalmente independentes. Os segmentos corporais analisados foram pés, tornozelos, joelhos, quadris, pelve, tronco, coluna lombar, membros superiores, coluna cervical e cabeça. Seus movimentos e condições foram descritos: adução e abdução, eversão e inversão, valgismo e varismo, posição neutra e assimetria. Os protocolos foram avaliados por meio de questionários de avaliação, respondidos por 12 fisioterapeutas especialistas na área.Resultados A atividade de sentar foi descrita de acordo com o estabelecimento de 4 fases. 1- “Posição inicial”, 2- “Pré-agachamento”, 3- “Agachamento” e 4- “Estabilização”. Foram elaborados 2 modelos de protocolos, sendo considerados 5 segmentos corporais para a vista anterior e 7 segmentos para a vista lateral.Conclusão A atividade de sentar foi descrita em 4 fases, e em cada uma ocorrem movimentos sequenciais de cada segmento corporal. Estes protocolos permitem identificar as alterações de segmentos corporais durante a atividade de sentar por meio da comparação dos movimentos descritos. A classificação do grau de inadequação corresponde ao número de segmentos corporais com movimentos alterados.

Evaluation of clinical and functional abnormalities in Pompe disease: Case Report / Avaliação das anomalias clínico-funcionais na doença de Pompe: Relato de Caso

The patient was a 15 year-old girl who turned out at the Physical Therapy Clinic presenting progressiv escoliosis and angle of 50º Coob by X-Ray. She complained of back pain, headache and weakness of shoulder and pelvic girdle. Physical therapy evaluation came across features of delayed motor development and undernourishment, together with generalized muscle weakness (grade = 4) which was observed by the Kendall test. Lung vital capacity was 40.5%. Clinical Changes: studies of the enzymes with acid alpha-glucosidase assay kits used on filter paper and leukocytes showed low enzyme activity, suggesting a late form of the Pompe disease. The molecular studies proved that the patient had amutation associated with late-onset Pompe disease. Acid alpha-glucosidase enzyme assay studies performed in skin fibroblasts showed a reduction of the enzymatic activity of the acid alpha-glucosidase, confirming the previous results. On account of the results, Pompe disease induced important changes inclinical and functional, as well as metabolic changes, decreased strength and muscle action potentially, biomechanical changes in the spine and changes in respiratory capacity. Furthermore, this case of Pompe disease illustrates the importance of adequate physical therapy evaluation as it can be the starting point of investigation of serious conditions such as late onset Pompe disease

Paciente do sexo feminino com 15 anos, apresentou-se na Clínica de Fisioterapia, devido à presença de escoliose progressiva com ângulo de Coob de 50º pelo Raio-X. Apresentou queixa de dor na coluna e na cabeça, fraqueza de cintura escapular e pélvica. Na avaliação fisioterapêutica observou-se um quadro semelhante ao atraso do desenvolvimento motor e desnutrição, com fraqueza muscular generalizada(grau = 4) observada pelo teste de Kendall. Na função pulmonar a capacidade vital apresentou com 40,5%. Estudos enzimáticos com dosagem da alfa-glicosidade ácida em papel-filtro e leucócitos evidenciaram baixa atividade enzimática, sugestivo de forma tardia da doença de Pompe. No estudo molecular, comprovou-se que a paciente possuía mutação associada à forma tardia da doença; estudos enzimáticos da alfa-glicosidase ácida em fibroblastos cultivados a partir de biópsia de pele evidenciaram redução da atividade enzimática da alfa-glicosidase ácida, confirmando estudos enzimáticos prévios. Perante os resultados, a doença de Pompe apresentou alterações clínicas e funcionais importantes como alteração do metabolismo, diminuição de força e do potencial de ação da musculatura, alterações biomecânicas na coluna e na capacidade respiratória. Adicionalmente, o caso ilustra a importância da avaliação fisioterapêutica adequada, pois ele pode ser o ponto de partida da investigação de doenças graves como o presente caso

Cómo evaluar un paciente con miotonía / How to evaluate a patient with myotonia

Introducción: la miotonía es un desorden del músculo, caracterizado por una relajación demorada del músculo esquelético después de la contracción voluntaria o por efecto de la percusión. Desarrollo: se comenta la fisiopatología a la luz de los conocimientos actuales en relación a los defectos genéticos ligados a las canalopatías. Se discute el diagnóstico positivo y diferencial, la clasificación, las principales formas clínicas y el tratamiento. Conclusiones: a pesar de un conocimiento creciente de la base genética de estos desórdenes, los rasgos clínicos y el electro diagnóstico permanecen como aliados insuperables en el diagnóstico positivo y diferencial de las mismas. Sobre las miotonías no distróficas existen algunas respuestas, con muchas más interrogantes tanto en su reconocimiento clínico como en su clasificación y tratamiento.

Introduction: myotonia is a muscle disorder, characterized by a delayed relaxation of a skeletal muscle after a voluntary contraction or by percussion. Development: the physiopathology in the light of current knowledge regarding genetic defects associated with channelopathies is presented. Positive and differential diagnosis, classification, main clinical forms and treatment are discussed. Conclusions: despite a growing understanding of the genetic basis of these disorders, clinical features and the electro-diagnostic remain as insuperable allies in positive and differential diagnosis. On myotonia no dystrophica there are some answers, with many more questions both its medical examination and its classification and treatment.

Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea / Prenatal diagnosis of otopalatodigital syndrome type 2

El síndrome otopalatodigital tipo 2 (OPD2), es una rara entidad con herencia recesiva ligada al cromosoma X, letal, caracterizada por facies anormales con hipoplasia centrofacial, hipertelorismo ocular, paladar hendido, talla baja, huesos largos curvos, sindactilia en pies y manos y anomalías óseas. Usualmente originadas en mutaciones en el gen de la filamina A (FLNA). Se reporta un caso, con diagnóstico prenatal de osteocondrodisplasia que posteriormente por hallazgos al examen físico y radiológicos del recién nacido se clasifico como síndrome otopalatodigital tipo 2.

Otopalatodigital syndrome, type 2 (OPD2), is a rare entity with recessive heredity linked to the X chromosome, lethal, characterized by abnormal facies, with centro-facial hypoplasia, ocular hypertelorism, cleft palate, low height, curved long bones, syndactyly, and osseous anomalies on feet and hands. It has been recently shown that patients with OPD2 with mutations in the filamin A gene (FLNA), which is also found altered in allelic entities like the OPD1 syndrome, the Melnik-Needles syndrome and frontometaphyseal dysplasia. Herein, we report a case with prenatal osteochondrodysplasia diagnosis that after physical and radiological exam of the newborn was classified as otopalatodigital syndrome type 2.

Transposition flap for correction of ectopic breast in Poland's syndrome using a pre-molded silicone prosthesis / Retalho de transposição para correção de mama ectópica em síndrome de Poland usando prótese de silicone pré-moldada

The authors report a variation of Poland's syndrome with ectopic right breast. Three surgeries were performed at different times: transposition flap to place the mammary gland in an anatomic position; reduction of the contralateral left breast; and implantation of a pre-molded silicone prosthesis to correct the malformation caused by the absence of the major and minor pectoral muscles. The surgeries were performed at six-month intervals, and the final outcome was new and acceptable positioning of the breasts.

Os autores apresentam uma variante da síndrome de Poland com mama direita ectópica. Foram realizados três tempos cirúrgicos: retalho de transposição para colocação da glândula mamária em posição anatômica; redução da mama contralateral esquerda; e implantação de prótese de silicone pré-moldada para correção do defeito causado pela agenesia dos músculos peitoral maior e peitoral menor. Com intervalo de seis meses entre as cirurgias, o resultado final apresenta novo posicionamento aceitável das mamas.