Juan Clinton Llerena Junior

Determinantes da marcha independente na osteogênese imperfeita

Objectives: Investigation of the locomotion process in patients with osteogenesis imperfecta (OI), and the factors that influence it, with special attention to clinical aspects relating to motor rehabilitation. Methods: a retrospective, cross-sectional study was carried out at the physical therapy outpatient clinic of the Instituto Fernandes Figueira. All patients with a clinical diagnosis of OI were included. Patients with other diseases, and those aged under two years, old were excluded. Epi-Info version 3.4 was used to construct the database, and SPSS version 15 for the statistical analysis. Results: The odds-ratio was used to measure the association between independent walking and clinical characteristics, adopting a level of significance of 5% for the analysis. Results: 69 patients were included. Of these, 43.5% were classified as OI type I; 37.7% as type III and 18.8% as type IV. 76.8% presented long bone deformities. A negative association was observed between hypotonia, number of fractures, and independent walking. A positive association was observed between independent walking and OI type I. Conclusions: physical therapy, as a complementary approach to orthopedics, and the administration of medications of the biophosphonates class, are of fundamental importance for the rehabilitation of motor capacity of individuals with OI. Level of Evidence, cross sectional.

Perfil dos óbitos de recém-nascidos ocorridos na sala de parto de uma maternidade do Rio de Janeiro, 2010-2012

Objective: to describe the main characteristics of newborn babies who died in the delivery room of a maternity hospital in Rio de Janeiro (RJ). Method: a descriptive case series study using secondary data. We included all live births between January 1st 2010 and January 31st 2012 that died in the delivery room. Results: one hundred and six infants died in the delivery room. Most deaths occurred in newborn females (51.9%), with low birth weight (77.0%), Apgar score of less than seven at one minute (98.1%), and at five minutes (99.0%) after birth, and congenital malformations (92.5%). Conclusions: the most common features among newborn babies who died included: low birth weight, presence of asphyxia and congenital malformations.

Doença de Hirschsprung: experiência com uma série de 55 casos

OBJECTIVES: to analyze clinical features of patients with Hirschprungs Disease (HD). METHODS: a retrospective institutional case study was carried out using the medical records of patients with HD attending the Fernandes Figueira Institute between 1993 and 2003. RESULTS: out of a total of 55 patients, 98% presented symptoms on birth, 47.2% of whom were diagnosed during the neonatal period; in 88.9% of cases the barium enema was conclusive; 69% had short segment HD; 16.3% Downs Syndrome; 15.2% other congenital anomalies; 40% were screened for RET mutations associated with multiple endocrine neoplasias (MEN2A), although none were detected; 63.6% had staged pull-through surgery on the colon or ileum; 12.72% primary transanal endorectal pull-through surgery; the main complications arising from surgery were sepsis, enterocolitis and obstruction of the intestines; abnormal bowel movements were detected years after the surgery; the mortality rate was 9.25%, the causes of death being post-operal enterocolitis and sepsis. CONCLUSION: although patients presented symptoms on birth, most were diagnosed at a later stage. Enterocolitis was the main cause of death. Abnormal bowel movements frequently occurred, requiring prolonged follow-up. Although rare, the association with MEN2A needs to be investigated owing to the highly aggressive nature of the disease. The clinical and genetic heterogeneity of HD necessitates the involvement of a multidisciplinary team.

Osteotomia pélvica anterior bilateral para o fechamento de extrofia de bexiga: descrição de técnica

Bladder and cloacal exstrophy are rare malformations associated with abnormalities in the pelvis. The objectives in reconstruction are to obtain a closed and continent bladder, with an acceptable cosmetic appearance. Treatment for the abnormalities of pelvic anatomy is an important part of achieving successful treatment for these urological conditions. This article aims to describe the technique of bilateral anterior pelvic osteotomy for treating bladder and cloacal exstrophy, and presents two cases to demonstrate the difficulties and applications of the technique.

Aspectos clínicos em 16 pacientes com diagnóstico tomográfico de esquizencefalia

OBJECTIVE: To establish a correlation between clinical features in a group of children with tomographic diagnosis of schizencephaly and clefts extent and localization. MATERIALS AND METHODS: Retrospective study of dossiers from the archives of Neurology and Medical Genetics Services at Instituto Fernandes Figueira/Fiocruz and Hospital Municipal Jesus, Rio de Janeiro, RJ, Brazil, in the period between 2000 and 2003. The study included 16 patients, nine female and seven male, with tomographic diagnosis of schizencephaly investigated for clinical findings, psychomotor development, motor/cognitive deficits and epilepsy. RESULTS: Predominance of bilateral clefts in 10:16 patients, open-lip schizencephaly type in 23:27 patients, and small lips in 11:27 patients. As regards anomalies associated with schizencephaly, pellucid septum absence was the most frequent one (10:16 patients). As regards clinical findings, 15 patients presented with developmental delay and motor deficit, six patients with cognitive deficit and ten with epilepsy. In three patients, we observed discordant clinical findings and cleft sizes, although the clefts were small, the clinical features severity was high because of other cerebral anomalies. CONCLUSION: The clinical features of schizencephaly are related to the size of the clefts, regardless laterality, presenting higher severity when associated with other cerebral anomalies.

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

BackgroundMyelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, the cytogenetic studies in the bone marrow (BM) of these patients have an important role in the therapeutic decision, mainly in the indication for hematopoietic stem cell transplantation (HSCT). The most frequent chromosomal alterations in the BM of FA patients are gains of the chromosomal regions 1q and 3q, and partial or complete loss of chromosome 7. However, the significance and the predictive value of such clonal alterations, with respect to malignant progress, are not fully understood and data from molecular cytogenetic studies are very limited.Case presentationA five-year-old boy presented recurrent infections and persistent anemia. The BM biopsy revealed hypocellularity. G-banding was performed on BM cells and showed a normal karyotype. The physical examination showed to be characteristic of FA, being the diagnosis confirmed by DEB test. Five years later, even with supportive treatment, the patient presented severe hypocellularity and BM evolution revealing megakaryocyte dysplasia, intense dyserythropoiesis, and 11% myeloblasts. G-banded analysis showed an abnormal karyotype involving a der(9)t(9;11)(p24;q?22). The FISH analysis showed the monoallelic loss of ATM and KMT2A genes. At this moment the diagnosis was MDS, refractory anemia with excess of blasts (RAEB). Allogeneic HSCT was indicated early in the diagnosis, but no donor was found. Decitabine treatment was initiated and well tolerated, although progression to AML occurred 3 months later. Chemotherapy induction was initiated, but there was no response. The patient died due to disease progression and infection complications.ConclusionsMolecular cytogenetic analysis showed a yet unreported der(9)t(9;11)(p24;q?22),der(11)t(9;11)(p24;q?22) during the evolution from FA to MDS/AML. The FISH technique was important allowing the identification at the molecular level of the monoallelic deletion involving the KMT2A and ATM genes. Our results suggest that this chromosomal alteration conferred a poor prognosis, being associated with a rapid leukemic transformation and a poor treatment response.

Fetal Skeletal Lethal Dysplasia: Case Report

The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant.

A CIF-CJ para crianças e adolescentes com osteogênese imperfeita: a perspectiva de especialistas

192 ABSTRACT Objective: From the perspective of specialists in Osteogenesis Imperfecta (OI), to identify the most relevant categories of the International Classification of Functioning, Disability, and Health: children and youth version (ICF-CY) to patients. Methods: Three-stage surveys were sent by email to five OI specialists using the modified Delphi method. From a list of second-level ICFCY categories, the participants chose the most relevant categories to assess the functioning of children and adolescents with OI. At the end of the third stage, the categories considered relevant by at least 80% of the responders were selected. Results: Categorizations of all ICF-CY components were agreed upon. Activities, Participation, and Environmental Factors were the categories with the most components. Conclusion: A list of ICF-CY categories relevant to OI could be created from the perspective of specialists. This is an important step to highlight what to assess in children and adolescents with OI.

Identificação dos conceitos de medidas de desfechos de ensaios clínicos em osteogênese imperfeita utilizando a Classificação Internacional de Funcionalidade, Incapacidade e Saúde - versão crianças e jovens

1 Physiotherapist, Master’s candidate at the Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)/ Fernandes Figueira National Institute for the Health of Women, Children, and Adolescents (IFF/Fiocruz). 2 Physician, Researcher at the Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)/Fernandes Figueira National Institute for the Health of Women, Children, and Adolescents (IFF/Fiocruz). 3 Physiotherapist, Researcher at the Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)/ Fernandes Figueira National Institute for the Health of Women, Children, and Adolescents (IFF/Fiocruz). 4 Statistician, Researcher at the Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)/Fernandes Figueira National Institute for the Health of Women, Children, and Adolescents (IFF/Fiocruz).The biopsychosocial model from the International Classification of Functioning, Disability, and Health (ICF) has been used as a reference in clinical practice to identify and analyze the functioning components in outcome measures. Objective: The objectives of this study were to identify the concepts contained in outcome measures of clinical trials on Osteogenesis Imperfecta, to analyze how these concepts are linked with the ICF - Children and Youth version (ICF-CY) and describe what the functioning components are that are assessed in these studies. Method: Randomized controlled trials on children with diagnoses of Osteogenesis Imperfecta carried out between 2000 and 2013 were selected using MedLine and Cochrane. The outcome measures were extracted and the concepts contained in the outcome measures were linked to the ICF-CY. Results: Fourteen trials were included. The concepts of clinical and technical measures and of one health assessment instrument (Pediatric Evaluation of Disability Inventory - PEDI) were identified. The concepts of clinical and technical measures were linked to the ICF-CY Body Functions and Structures component. The PEDI concepts were linked to the Body Functions and especially to Activity and Participation. Conclusion: Using the linking of the concepts of outcome measures to the ICF-CY it was possible to verify that clinical trials on Osteogenesis Imperfecta assessed mainly the Body Functions and Body Structures component. Assessments of Activity and Participation and contextual factors are scarce on these studies. More research is necessary on the effects of interventions on these components.

Sirenomelia associada a defeitos congênitos raros: relato de três casos

Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.