Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina

Abstract The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 patients had early-onset (EO), 23/48 had late-onset (LO), and 12/48 had a different presentation because they had a family risk background (FRB) and had been diagnosed since they were born. The most frequent deficiency disorder was OTCD (65%). The initial ammonium value was evaluated, being higher in the EO group, with a statistically significant difference when compared with LO and FRB. 15/48 patients fell into a coma at the time of diagnosis, mean ammonia was 829.54 μmol / L, and 33/48 did not fell into a coma, the mean ammonium was of 159.3 μmol / L (p = 0.001). 15 patients died: 62% EO, 22% LO (p=0.0216), 17% FRB. A molecular study was performed on 35 patients. Patients with EO presentation suffer the most severe forms and still have high morbimortality. On the other hand, LO forms are forms of less severity that are finally diagnosed as a result of one or more acute episodes.

Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina

Abstract Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications. Data of 36 patients,29 GSD Ia and 7 Ib from a high complexity Hospital in Argentina was collected retrospectively. Collected data included diagnosis, anthropometric, biochemical parameters, therapy and follow-up. Treatment increased Height SDS (p=0.012). Patients with good adherence to therapy presented better growth parameters (p=0.049). Instead, admissions were detrimental (p =0.031) and were more common in Ib patients (p=0.002). The early appearance of complications (liver adenomas and nephropathy) was related to sustained triglyceride values > 500mg / dl (p=0.009 and 0.046 respectively). With intensive dietary treatment, clinical and biochemical status improves but cannot be completely corrected in most patients. Growth improves with treatment and this is optimized with adequate adherence. We must take into account that with ageing, more complications will develop.

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency / O valor do jejum no diagnóstico da deficiência de acil-CoA desidrogenase de cadeia média

ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.

RESUMEN Paciente portadora de deficiencia de acil-CoA deshidrogenasa de cadena media (MCADD) con episodios clínicos recurrentes de hipoglucemia y alteración de consciencia presentó mudanzas en el perfil de acilcarnitinas en la sangre con técnicas de espectrometría de masas en tándem y en el análisis de ácidos orgánicos urinarios mediante cromatografía de gases acoplada a espectrometría de masas. Este caso demuestra la importancia de la toma de muestras biológicas en ayunas (se posible) cuando se sospecha de MCADD y destaca que el tiempo/momento de extracción de la muestra biológica es valioso para el diagnóstico, considerando la posibilidad de que la MCADD es subdiagnosticada en Brasil.

RESUMO Paciente portadora de deficiência de acil-CoA desidrogenase de cadeia média (MCADD), com episódios clínicos recorrentes de hipoglicemia e alteração de consciência, apresentou alterações no perfil de acilcarnitinas em sangue por espectrometria de massas em tandem e na análise de ácidos orgânicos urinários por cromatografia gasosa acoplada à espectrometria de massa. Este caso demonstra a importância da coleta de amostra biológica em jejum (se possível) quando há suspeita de MCADD e ressalta que o tempo/momento de coleta da amostra biológica é importante para o diagnóstico, considerando a possibilidade de a MCADD ser subdiagnosticada no Brasil.

Eficácia de um programa de estimulação de capacidades intelectuais / Efficacy of a program for stimulation of intellectual capacities

O modelo Catell-Horn-Carroll divide a inteligência em dez fatores gerais, decompostos em fatores específicos. Estudos da área abordam a possibilidade de estimulação da inteligência, por meio de programas específicos para esse fim. O objetivo do presente estudo foi desenvolver atividades para estimulação de três componentes desse modelo - Inteligência Fluida, Inteligência Cristalizada e Memória de Curto Prazo -, bem como implementar um programa de estimulação e avaliar sua eficácia. O programa foi realizado ao longo de 13 sessões. Participaram do estudo 22 crianças com idade entre 7 e 10 anos, divididas em dois grupos para a realização das atividades. Os instrumentos utilizados no pré e pós-teste foram a Escala Weschsler de Inteligência para Crianças - III, o Teste de Desempenho Escolar e as Matrizes Progressivas Coloridas de Raven. Os resultados apontaram aumento significativo no escore total da Escala Wechsler em todas as análises e no Teste de Desempenho Escolar, no que se refere à estimulação da inteligência cristalizada e memória de curto prazo, o que parece ser indicativo da eficácia do programa.

Cattell-Horn-Carroll Model splits intelligence into ten general factors, broken down into specific factors. Studies in the area have discussed whether or not cognitive stimulation is possible through programs designed to do so. The aims of the present study were to develop tasks in order to stimulate three factors of Cattell-Horn-Carroll model - Fluid Intelligence, Crystallized Intelligence and Short-term Memory, to present a program comprised of these tasks, and to assess its efficacy. Program was developed during the course of thirteen sessions. Participants were 22 schoolchildren, age-range from 7 to 10 years, divided into two groups to perform activities. They were evaluated by Wechsler Intelligence Scale for Children III, School Performance Test and Raven's Colored Progressive Matrices during pre and post-test. Results showed significant rise in total score for Wechsler Intelligence Scale for Children III in all analyses; and in School Performance Test for crystallized intelligence and short-term memory, which seems to be indicative of program efficacy.