Instituto da Crianca

São Paulo, Brazil

Instituto da Crianca

São Paulo, Brazil

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Velhote M.C.P.,Instituto da Crianca | Damiani D.,University of Sao Paulo
Obesity Surgery | Year: 2010

Background: Bariatric surgery (BS) was recognized as the only treatment for morbid obesity in adolescents. Classic surgical procedures are based on mechanical restriction and/or malabsorption, resulting in a large number of possible complications and demanding lifelong medical attention. A novel BS design, the Santoro III procedure, relies on modifying secretion of the satiogenic hormones GLP-1 and PYY. This approach avoids common BS complications such as prostheses, narrow anastomoses, excluded segments, and malabsorption. This study describes the 1-year follow-up of the first ten adolescents operated on using the Santoro III technique in a pediatric surgical service. Methods: Ten adolescents, mean age 16.1∈±∈1.7 years with body mass index (BMI) greater than 40 kg/m 2 (range 44 to 72 kg/m 2), refractory to at least 2 years of medical weight loss treatment were selected by a multidisciplinary team to undergo BS. This operation consists of a sleeve gastrectomy with enteroomentectomy and partial gastro-ileal derivation. Results: After 1 year, mean body weight decreased from 140.3 to 88.6 kg, and BMI decreased from 52.8∈±∈9.5 kg/m 2 to 33.4∈±∈7.7 kg/m 2, with percent of excess BMI lost as 83.9∈±∈17.1%. Glucose, insulin, total cholesterol, LDL-cholesterol, and triglyceride levels decreased significantly, while HDL-cholesterol, hemoglobin, and albumin levels remained unchanged. There were no mortalities or reoperations. The two complications that presented during the trial (intraperitoneal abscess and polyneuritis) resolved with medical treatment without sequelae. All the patients returned to their normal activities and their BMI began to stabilize approximately 2 years following surgery. Conclusions: The Santoro III procedure is an attractive option for adolescent BS, with promising 1-year follow-up results. These initial studies should be monitored for long-term outcomes and confirmed on a larger group of patients. © 2008 Springer Science + Business Media, LLC.


Fonseca A.C.S.,University of Sao Paulo | Bonaldi A.,University of Sao Paulo | Bertola D.R.,University of Sao Paulo | Bertola D.R.,Instituto da Crianca | And 3 more authors.
BMC Medical Genetics | Year: 2013

Background: The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the direct disruption of regulatory elements, their separation from SOX9 or the effect of juxtaposed sequences.Case presentation: We report on two sporadic apparently balanced translocations, t(7;17)(p13;q24) and t(17;20)(q24.3;q11.2), whose carriers have skeletal abnormalities that led to the diagnosis of acampomelic campomelic dysplasia (ACD; MIM 114290). No pathogenic chromosomal imbalances were detected by a-CGH. The chromosome 17 breakpoints were mapped, respectively, 917-855 kb and 601-585 kb upstream of the SOX9 gene. A distal cluster of balanced rearrangements breakpoints on chromosome 17 associated with SOX9-related skeletal disorders has been mapped to a segment 932-789 kb upstream of SOX9. In this cluster, the breakpoint of the herein described t(17;20) is the most telomeric to SOX9, thus allowing the redefining of the telomeric boundary of the distal breakpoint cluster region related to skeletal disorders to 601-585 kb upstream of SOX9. Although both patients have skeletal abnormalities, the t(7;17) carrier presents with relatively mild clinical features, whereas the t(17;20) was detected in a boy with severe broncheomalacia, depending on mechanical ventilation. Balanced and unbalanced rearrangements associated with disorders of sex determination led to the mapping of a regulatory region of SOX9 function on testicular differentiation to a 517-595 kb interval upstream of SOX9, in addition to TESCO (Testis-specific enhancer of SOX9 core). As the carrier of t(17;20) has an XY sex-chromosome constitution and normal male development for his age, the segment of chromosome 17 distal to the translocation breakpoint should contain the regulatory elements for normal testis development.Conclusions: These two novel translocations illustrate the clinical variability in carriers of balanced translocations with breakpoints near SOX9. The translocation t(17;20) breakpoint provides further evidence for an additional testis-specific SOX9 enhancer 517 to 595 kb upstream of the SOX9 gene. © 2013 Fonseca et al.; licensee BioMed Central Ltd.


Bertola D.R.,Instituto da Crianca | Bertola D.R.,University of Sao Paulo | Rodrigues M.G.,University of Sao Paulo | Quaio C.R.D.C.,Instituto da Crianca | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

Frontonasal dysplasias (FND) comprise a spectrum of disorders caused by abnormal median facial development. Its etiology is still poorly understood but recently frontonasal dysplasia phenotypes were linked to loss-of-function mutations in the ALX homeobox gene family, which comprises the ALX1, ALX3, and ALX4 genes. All ALX-related frontonasal phenotypes till date had been compatible with an autosomal recessive mode of inheritance. In contrast, heterozygous loss-of-function mutations in ALX4 had been only associated with isolated symmetrical parietal ossification defects at the intersection of the sagittal and lambdoid sutures, known as enlarged parietal foramina. We report a family with vertical transmission from mother to son of mild frontonasal dysplasia phenotype caused by a novel ALX4 gene mutation (c.1080-1089_delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT, p.Asp326fsX21).This is the first report of a frontonasal phenotype related to a heterozygous mutation in ALX4. This mutation is predicted to cause the loss of the aristaless domain in the C-terminal region of the protein and preserves the homeodomain. We speculate that a different mechanism, a dominant-negative effect, is responsible for the distinct phenotype in this family. © 2013 Wiley Periodicals, Inc.


PubMed | Instituto da Crianca and University of Sao Paulo
Type: Journal Article | Journal: Revista da Associacao Medica Brasileira (1992) | Year: 2016

To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH).A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level.We evaluated 30 patients with PH. After the start of IVIG replacement, there was a decline in the frequency of pneumonia (p<0.001). The 11 patients with bronchiectasis in their first CT scan were older at diagnosis (p=0.001) and had greater diagnostic delay (p=0.001) compared to patients without bronchiectasis. At the end of the study, 18 patients had bronchiectasis and 27 also had other lung disorders, alone or in combination. The Bhalla score was applied to the last CT scan of 16 patients, with a median score of 11 (range 7-21), with a positive correlation between the score and the number of pneumonias after the start of treatment (r=0.561; p=0.024). The score was also correlated with forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) values in 13/16 patients, with negative correlation to FEV1 previously to bronchodilator (r=-0.778; p=0.002) and after bronchodilator (r =-0.837; p<0.001) and FVC (r=-0.773; p=0.002).Pulmonary complications were common in this cohort, despite the decrease in the frequency of pneumonia with treatment. Early investigation of patients with recurrent infections for primary immunodeficiencies can reduce the frequency of these complications. The monitoring of changes in spirometry may indicate the need to carry out radiological investigation.


PubMed | Instituto da Crianca and University of Sao Paulo
Type: Journal Article | Journal: Revista da Associacao Medica Brasileira (1992) | Year: 2016

To characterize the motor performance of newborns in a neonatal unit of tertiary level and compare the results to the values recommended by the Test of Infant Motor Performance (TIMP).Newborns between 34 and 416/7 weeks of corrected gestational age, breathing spontaneously and presenting state of consciousness 4 or 5, according to Brazelton, were included. TIMP was used to evaluate the motor performance.The age groups of 34-35 and 36-37 weeks showed on average TIMP scores similar to the reference values (p>0.05), while in the age groups of 38-39 weeks and 40-41 weeks TIMP scores were statistically lower than the reference values (p<0.001 and p=0.018, respectively). The 34-35 and 36-37 week groups were rated as average, while the 38-39 and 40-41 week groups were defined as low average. Classifications below average and very below average were not observed.The newborns showed average scores compared to the TIMP reference values; however, there were two groups whose performances were within the low average. There was no significant difference in motor performance of newborns in the age groups of 38-39 and 40-41 weeks. This behavior suggests that the sample studied has special features that possibly negatively influenced their motor performance. The results showed that the TIMP is a very useful tool and can be used safely in tertiary neonatal units.


PubMed | Full Professor of Intensive Care Neonatology at FMUSP and Instituto da Crianca, Hospital Universitario, Instituto da Crianca and University of Sao Paulo
Type: Journal Article | Journal: Revista da Associacao Medica Brasileira (1992) | Year: 2016

To describe thyroid alterations in term newborns (TNB) with fungal sepsis during NICU hospitalization.The study included six TNB that during the clinical and laboratory manifestations of sepsis with positive cultures for fungus showed changes in thyroid hormones, called low T3 syndrome and low T3-T4 syndrome. TNB that could present hormonal changes caused by disease as those born to mothers with thyroid disease, or who had perinatal asphyxia and major surgeries were excluded.Of six TNB with fungal sepsis, five had positive culture for Candida albicans and one had positive culture for Candida tropicalis. Low T3 syndrome was observed in two TNB (50%), while T3-T4 syndrome was observed in other two (100%). The four children progressed to septic shock.Fungal sepsis is becoming more common among newborns admitted to NICU. Thyroid insufficiency could be a marker of disease severity with possible need for hormone supplementation.


PubMed | Instituto da Crianca and University of Sao Paulo
Type: Journal Article | Journal: Revista da Associacao Medica Brasileira (1992) | Year: 2016

Analgesia and sedation are essential elements in patient care in the intensive care unit (ICU), in order to promote the control of pain, anxiety and agitation, prevent the loss of devices, accidental extubation, and improve the synchrony of the patient with mechanical ventilation. However, excess of these medications leads to rise in morbidity and mortality. The ideal management will depend on the adoption of clinical and pharmacological measures, guided by scales and protocols.Literature review on the main aspects of analgesia and sedation, abstinence syndrome, and delirium in the pediatric intensive care unit, in order to show the importance of the use of protocols on the management of critically ill patients.Articles published in the past 16 years on PubMed, Lilacs, and the Cochrane Library, with the terms analgesia, sedation, abstinence syndrome, mild sedation, daily interruption, and intensive care unit.Seventy-six articles considered relevant were selected to describe the importance of using a protocol of sedation and analgesia. They recommended mild sedation and the use of assessment scales, daily interruptions, and spontaneous breathing test. These measures shorten the time of mechanical ventilation, as well as length of hospital stay, and help to control abstinence and delirium, without increasing the risk of morbidity and morbidity.Despite the lack of controlled and randomized clinical trials in the pediatric setting, the use of protocols, optimizing mild sedation, leads to decreased morbidity.


Background and objectives: Very few publications correlate hypotension in obese pregnant women, and especially morbidly obese, after spinal anesthesia for cesarean section. The objective of the present study was to evaluate the incidence of hypotension according to the BMI. Methods: Forty-nine patients with pregestational BMI below 25 kg.m-2 were included in the Eutrophia group, and 51 patients with BMI ≥ 25 kg.m-2 were included in the Overweight group. After spinal anesthesia, blood pressure, volume of crystalloid infused, and dose of vasopressors used until delivery were recorded. A fall in systolic blood pressure below 100 mmHg or 10% reduction of the initial systolic blood pressure (SBP) was considered as hypotension and it was corrected by the administration of vasopressors. Results: Episodes of hypotension were fewer in the Eutrophia group (5.89 ± 0.53 vs. 7.80 ± 0.66, p = 0.027), as well as the amount of crystalloid administered (1,298 ± 413.6 mL vs. 1,539 ± 460.0 mL; p = 0.007), and use of vasopressors (5.87 ± 3.45 bolus vs. 7.70 ± 4.46 bolus; p = 0.023). As for associated diseases, we observed higher incidence of diabetes among obese pregnant women (29.41% vs. 9.76%, RR 1.60, 95%CI: 1.15-2.22, p = 0.036), however, differences in the incidence of pregnancy-induced hypertension (PIH) were not observe between both groups (overweight: 21.57%, normal weight: 12.20%, RR 1.30, 95%CI: 0.88-1.94, p = 0.28). Conclusions: In the study sample, pregestational BMI ≥ 25 kg.m -2 was a risk factor for hypotension after spinal anesthesia in patients undergoing cesarean section. The same group of patients required higher doses of vasopressors. Those results indicate that the anesthetic techniques in those patients should be improved to reduce the consequences of post-spinal anesthesia hypotension, both in pregnant women and fetuses. ©Elsevier Editora Ltda.


Vaisbich M.H.,Instituto da Crianca | Koch V.H.,Instituto da Crianca
Nephron. Clinical practice | Year: 2010

INTRODUCTION: The Brazilian Multicenter Nephropathic Study Group, founded in 1999, is currently composed of 16 pediatric nephrology units, which are coordinated by the Pediatric Nephrology Unit of Instituto da Criança--HCFMUSP. This Study Group intends to better know our patients, their special characteristics and facilitates the treatment. OBJECTIVE: To present an update on the demographics of the ongoing study participants with interest on renal function status, response to therapy, and extra-renal complications. METHODS: Patient recruitment to the study is based on informed consent and has been supported by the Brazilian Society of Nephrology, by the creation of an electronic homepage and by the participation in medical meetings and publications in medical periodicals. Our study protocol involves the initial and follow-up questionnaire, the measurement of intraleukocyte cystine content, initiation and follow-up therapy with cysteamine, and clinical patient follow-up based on a protocol of subsidiary exams. RESULTS: We identified 102 patients (42 females) with nephropathic cystinosis in Brazil since 1999. Forty-six children are followed at the Instituto da Criança/SP, 15 at the Hospital Pequeno Príncipe/PR, 12 at the UNICAMP/SP, 10 at the Unidade de Transplante Renal - HCFMUSP/SP and 3 at the Santa Casa/SP; the remaining patients are followed at the Instituto da Criança and at their respective doctors' offices in different nephrology services in Brazil. Of these patients, 23/102 (22.5%) have normal renal function, 19/102 (18.6%) are in chronic renal failure with conservative treatment, 26/102 are on dialysis (18 on peritoneal dialysis and 8 on hemodialysis), and 34/102 received a renal transplant. The extra-renal involvement diagnosed was: hypothyroidism in 63 patients, diabetes mellitus in 8 patients, muscular involvement in 7 patients, a compromised central nervous system in 5 patients, hepatic complications in 5 patients, and deglutition dysfunction in 2 patients. During this period, 10/102 patients died. Cysteamine has been used by 81/102 patients (20 children started the therapy under 2 years of age). Growth parameters were improved by cysteamine, mainly in the youngest patients. We used recombinant growth hormone in 15 patients with persistent low growth velocity and stature z score under 2.5%. We could also observe a delay in appearance of extra-renal complications in patients receiving cysteamine. CONCLUSION: Our study demonstrates the importance of a multi-center study for recruitment, diagnosis and management of rare diseases. This study promotes access to the adequate treatment with profound impact on the quality of life. Copyright 2009 S. Karger AG, Basel.


Guimaraes L.P.,Instituto da Crianca
Jornal brasileiro de nefrologia : 'orgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia | Year: 2012

Cystinosis is an autossomic recessive systemic disease that leads to renal insufficiency early in life unless cysteamine be started early. Unfortunately, even in this situation the patients will develop chronic renal disease with need of renal replacement therapy about second decade of life. Therefore, the renal function evaluation is essential to these patients. The aim of this study was to evaluate cystatin C, serum creatinine and creatinine clearance estimated by stature (Schwartz Formula) in cystinosis patients, with different degrees of renal function, and to correlate these parameters. We studied cystinosis patients, aged lower than 18 years, with different degrees of renal function, classified according to KDOQI in Chronic Kidney Disease stage 1 to 4. No patient was under renal replacement therapy. In these patients we evaluate the serum creatinine, cystatin C and creatinine clearance according to Schwartz Formula. We analyzed 103 blood samples of 26 patients. We detected a significant statistical correlation between serum creatinine and cystatin C (r = 0.81, p < 0.0001), cystatin C and creatinine clearance estimated by stature (r = -0.84, p < 0.0001) and between serum creatinine and creatinine clearance estimated by stature (r = -0.97, p < 0.0001). The expensive measurement of cystatin C showed no advantage in relation to serum creatinine and creatinine clearance according to Schwartz Formula in cystinosis patients to estimate the glomerular filtration rate. This is the first report checking the value of serum creatinine, creatinine clearance estimated by stature and cystatin C in cystinosis patients.

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