Mutación DGAT1 en dos hermanas con falla de medro: reporte de caso / DGAT1 mutation in two sisters with failure to thrive: a case report

Las diarreas y enteropatías congénitas (CODE por su sigla en inglés) son un grupo de trastornos monogénicos que se han descrito en los últimos años. Dentro de las CODE, la mutación del gen de la diacilglicerol o-aciltransferasa 1 (DGAT1) es un trastorno enzimático poco común asociado con diarrea crónica grave de aparición temprana. El objetivo es presentar a dos hermanas que consultaron por diarrea crónica, retraso en el crecimiento, vómitos e hipoalbuminemia en la primera infancia. En ambas pacientes se encontró un compuesto heterocigota de la mutación del DGAT1. Esta mutación se describió previamente en la población asiática; sin embargo, estas son las dos primeras pacientes en tener esta mutación en la población latinoamericana. Estos dos casos pueden ampliar nuestro conocimiento sobre las diarreas congénitas en general y las características clínicas de los pacientes con mutaciones en DGAT1 en particular.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.

Cost-Effectiveness of Pediatric Universal Screening for Familial Hypercholesterolemia in Argentina.

OBJECTIVE: Our study aimed to evaluate the expected cost-effectiveness of pediatric universal screening for the early diagnosis of familial hypercholesterolemia in Argentina using a probabilistic model. METHODS: Two different healthcare technologies were compared: (1) Universal screening of hypercholesterolemia at 6 years of age and (2) previous diagnostic situation (comparator). The perspective of the public Argentine healthcare system funded by the National Ministry of Health was used, considering only direct costs. Effectiveness was evaluated in terms of the number of life-years gained (LYG) and quality-adjusted life-years (QALYs) obtained by identifying familial hypercholesterolemia through each of the screening strategies. Only direct costs of screening and treatment of each strategy were evaluated. The time horizon was extended to 60 years. Future avoided costs of prevented coronary events were also included. Cost-effectiveness was measured in terms of the incremental cost-effectiveness ratio (ICER) per LYG and QALYs. Different scenarios were evaluated: (1) only index case, (2) index case and first-degree relatives, and (3) index case and first-degree relatives measuring QALYs. Sensitivity studies were conducted. RESULTS: Each identified child complying with follow-up visits and treatment gains 8.14 life-years. The ICER values obtained were 1465.35 USD/LYG and 1726.50 USD/LYG when applying a discount rate of 5%. The ICER was 10%-17% of the gross domestic product per capita in Argentina (mean 2010-2019: 12 446 USD) and did not exceed the minimum annual retirement income. CONCLUSION: Pediatric universal screening for familial hypercholesterolemia could be considered a cost-effective health technology in Argentina.

DGAT1 mutation in two sisters with failure to thrive: a case report. / Mutación DGAT1 en dos hermanas con falla de medro: reporte de caso.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.

Las diarreas y enteropatías congénitas (CODE por su sigla en inglés) son un grupo de trastornos monogénicos que se han descrito en los últimos años. Dentro de las CODE, la mutación del gen de la diacilglicerol o-aciltransferasa 1 (DGAT1) es un trastorno enzimático poco común asociado con diarrea crónica grave de aparición temprana. El objetivo es presentar a dos hermanas que consultaron por diarrea crónica, retraso en el crecimiento, vómitos e hipoalbuminemia en la primera infancia. En ambas pacientes se encontró un compuesto heterocigota de la mutación del DGAT1. Esta mutación se describió previamente en la población asiática; sin embargo, estas son las dos primeras pacientes en tener esta mutación en la población latinoamericana. Estos dos casos pueden ampliar nuestro conocimiento sobre las diarreas congénitas en general y las características clínicas de los pacientes con mutaciones en DGAT1 en particular.

Life-Space Mobility and Objectively Measured Movement Behavior in Older Adults with Hypertension after Receiving COVID-19 Vaccination.

This study examined the changes in life-space (LS) mobility and objectively measured movement behavior in older adults with hypertension after receiving the COVID-19 vaccine and their associations with housing type. A total of 32 participants were included in this exploratory longitudinal study with a 1-year follow-up. LS mobility and accelerometer-based physical activity (PA) and sedentary behavior (SB) were assessed before and ~2 months after receiving COVID-19 vaccination. Participants residing in apartment/row housing showed an increase in LS mobility composite score (ß = 14, p < 0.05). In addition, they showed an increase in light PA on weekdays and the weekend (ß = 3.5%; ß = 6.5%; p < 0.05) and a decrease in SB on weekdays and the weekend (ß = -3.7%; ß = -6.6%; p < 0.05). Furthermore, changes in SB pattern were found (less time spent in bouts of ≥10 and 30 min, more breaks/day and breaks/hour). Significant associations were found between changes in LS mobility composite score and PA (positive association) and SB (negative association) in older adults residing in apartment/row housing (p < 0.05). Older adults with hypertension, particularly those who resided in houses with limited outdoor space (apartment/row housing), showed positive changes in LS mobility and objectively measured movement behavior in a period after receiving the COVID-19 vaccine and characterized by social distancing policies without mobility restrictions when compared with the period of social distancing policies with high mobility restrictions and without vaccine.

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.

OBJECTIVE: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). CONCLUSIONS: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.

A case of successful surgical management of primary retroperitoneal mucinous cystadenoma.

Primary retroperitoneal mucinous cystadenoma (PRMC) is a rare tumour. It was first reported in 1965, and since then, less than 100 cases have been reported. It is cystic in nature and most commonly affects the female population. It becomes symptomatic in later stages due to its mass effect, making the diagnosis challenging in its early asymptomatic stage. We report a case of a 32-year-old female who presented with abdominal pain and a mass in left iliac fossa. Diagnostic imaging revealed a large cystic lesion in retroperitoneum. A midline laparotomy was performed, and a complete surgical excision was accomplished without any spillage. Surgical histology confirmed the diagnosis of PRMC. The patient was discharged on postoperative day 2. There was no evidence of tumour recurrence on repeat imaging at 90-day follow-up. Surgical approach, with complete resection and without any spillage, remains the most effective and appropriate treatment for this tumour.

Ketogenic parenteral nutrition in three paediatric patients with epilepsy with migrating focal seizures.

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare epilepsy syndrome, characterized by an onset of multifocal seizures before the age of six months and a rather typical ictal EEG pattern. The ketogenic diet (KD) has been shown to be a treatment option in these patients with variable results. The KD is generally given by enteral formula or solid food, however, patients on the KD often have coexisting medical disorders that may impair the gastrointestinal tract and, in these cases, parenteral nutrition support may be needed. We present our experience with three patients who had been on the KD because of EIMFS, who were acutely unable to absorb nutrients through the intestinal tract. For these patients, we were unable to reach ketogenic ratios higher than 1.5:1 because of the limited fat intake via the parenteral route. This ratio, nevertheless, was adequate for maintenance of seizure control while allowing short-term bowel rest. Even though our report is limited as it provides no controlled evidence, ketogenic parenteral nutrition should be considered in children on the KD when enteral nutrition is not feasible. Special care should be taken to maintain ketosis and avoid undesired carbohydrates. Patients may respond well to ketogenic parenteral nutrition in spite of a lower ketogenic ratio.

Resultados de la implementación de un protocolo de soporte nutricional en grandes quemados pediátricos internados en la Unidad de Cuidados Intensivos / Results of the implementation of a nutritional support protocol for major burn pediatric patients hospitalized in the Intensive Care Unit

Introducción: "Gran quemado" es quien sufre lesiones por daño térmico que afectan más del 30% de su superficie corporal (SC). El hipercatabolismo secundario causa pérdida de masa magra y retraso de la cicatrización de heridas. Objetivo: Describir y analizar los resultados de la implementación de un protocolo de soporte nutricional en niños quemados graves internados en una Unidad de Cuidados Intensivos durante las primeras 6 semanas evolutivas. Población y métodos: Diseño analítico, prospectivo, observacional y longitudinal. Se midieron peso, talla, porcentaje de SC quemada, días de internación en la Unidad de Cuidados Intensivos y mortalidad. Se analizaron tasa metabólica basal por calorimetría indirecta y fórmula de Schofield, cobertura de aporte energético y proteico, prealbúmina, proteína C reactiva, vitaminas A, D, E, cobre y zinc semanales. Resultados: Se incluyeron 18 pacientes (media: 3,9 años, 49% de SC quemada). Se alcanzó la media de objetivo energético en la segunda semana y el requerimiento proteico en la semana 6. Doce pacientes requirieron nutrición parenteral complementaria sin complicaciones. Se hallaron parámetros de hipermetabolismo, que se normalizaron a las 4-6 semanas del ingreso, excepto la proteína C reactiva. Las vitaminas A y E y elementos traza (zinc y cobre) estaban descendidos al ingreso con mejoría posterior. La vitamina D persistió en valores bajos. Un paciente falleció. Conclusiones: La implementación del protocolo permitió lograr el aporte de la totalidad del requerimiento energético; la cobertura del requerimiento proteico se postergó hasta la semana 6. Es necesario hacer hincapié en resolver las limitaciones para alcanzar este último.

Introduction. "Major burn" is used to describe a person who suffers thermal damage affecting more than 30% of his/her total body surface area (TBSA). The secondary hypercatabolism causes lean body mass loss and delayed wound healing. Objective. To describe and analyze the results of implementing a nutritional support protocol for pediatric burn patients hospitalized in the intensive care unit in the first 6 weeks. Population an d methods. Analytical, prospective, observational, and longitudinal design. Weight, height, %TBSA, length of stay in the intensive care unit, and mortality were measured. The basal metabolic rate was measured by indirect calorimetry and the Schofield equation, and protein and energy intake, prealbumin, C-reactive protein, vitamins A, D, E, copper, and zinc levels were analyzed every week. Results. Eighteen patients were included (mean: 3.9 years old, 49%TBSA). The mean energy target was achieved by week 2 and protein requirements were met by week 6. Twelve patients required complementary parenteral nutrition and there were no complications. Hypermetabolism parameters were observed, which returned to normal 4-6 weeks after hospitalization, except for C-reactive protein. Vitamins A and E and trace elements (zinc and copper) were reduced at the time of admission and showed a subsequent improvement. Vitamin D remained low. One patient died. Conclusions. Implementing the protocol was useful to cover the total energy requirement; the coverage of protein requirements was delayed until week 6. It is necessary to focus on solving limitations to achieve the latter.

Results of the implementation of a nutritional support protocol for major burn pediatric patients hospitalized in the Intensive Care Unit. / Resultados de la implementación de un protocolo de soporte nutricional en grandes quemados pediátricos internados en la Unidad de Cuidados Intensivos.

INTRODUCTION: "Major burn" is used to describe a person who suffers thermal damage affecting more than 30% of his/her total body surface area (TBSA). The secondary hypercatabolism causes lean body mass loss and delayed wound healing. OBJECTIVE: To describe and analyze the results of implementing a nutritional support protocol for pediatric burn patients hospitalized in the intensive care unit in the first 6 weeks. POPULATION AND METHODS: Analytical, prospective, observational, and longitudinal design. Weight, height, %TBSA, length of stay in the intensive care unit, and mortality were measured. The basal metabolic rate was measured by indirect calorimetry and the Schofield equation, and protein and energy intake, prealbumin, C-reactive protein, vitamins A, D, E, copper, and zinc levels were analyzed every week. RESULTS: Eighteen patients were included (mean: 3.9 years old, 49%TBSA). The mean energy target was achieved by week 2 and protein requirements were met by week 6. Twelve patients required complementary parenteral nutrition and there were no complications. Hypermetabolism parameters were observed, which returned to normal 4-6 weeks after hospitalization, except for C-reactive protein. Vitamins A and E and trace elements (zinc and copper) were reduced at the time of admission and showed a subsequent improvement. Vitamin D remained low. One patient died. CONCLUSIONS: Implementing the protocol was useful to cover the total energy requirement; the coverage of protein requirements was delayed until week 6. It is necessary to focus on solving limitations to achieve the latter.

Introducción: "Gran quemado" es quien sufre lesiones por daño térmico que afectan más del 30% de su superficie corporal (SC). El hipercatabolismo secundario causa pérdida de masa magra y retraso de la cicatrización de heridas. Objetivo: Describir y analizar los resultados de la implementación de un protocolo de soporte nutricional en niños quemados graves internados en una Unidad de Cuidados Intensivos durante las primeras 6 semanas evolutivas. Población y métodos: Diseño analítico, prospectivo, observacional y longitudinal. Se midieron peso, talla, porcentaje de SC quemada, días de internación en la Unidad de Cuidados Intensivos y mortalidad. Se analizaron tasa metabólica basal por calorimetría indirecta y fórmula de Schofield, cobertura de aporte energético y proteico, prealbúmina, proteína C reactiva, vitaminas A, D, E, cobre y zinc semanales. Resultados: Se incluyeron 18 pacientes (media: 3,9 años, 49% de SC quemada). Se alcanzó la media de objetivo energético en la segunda semana y el requerimiento proteico en la semana 6. Doce pacientes requirieron nutrición parenteral complementaria sin complicaciones. Se hallaron parámetros de hipermetabolismo, que se normalizaron a las 4-6 semanas del ingreso, excepto la proteína C reactiva. Las vitaminas A y E y elementos traza (zinc y cobre) estaban descendidos al ingreso con mejoría posterior. La vitamina D persistió en valores bajos. Un paciente falleció. Conclusiones: La implementación del protocolo permitió lograr el aporte de la totalidad del requerimiento energético; la cobertura del requerimiento proteico se postergó hasta la semana 6. Es necesario hacer hincapié en resolver las limitaciones para alcanzar este último.

Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.

BACKGROUND: Congenital generalized lipodystrophy (CGL) produces clinical features with severe metabolic consequences. Research has focused on measuring the response to the drugs. Nevertheless, there are no studies on the response to dietary therapy. The aim of this study was to show the clinical response to early nutritional intervention to modify or reverse metabolic effects in pediatric patients with CGL. METHODS: A retrospective study was conducted on patients with CGL followed up between January 2003 and June 2017. After diagnosis, patients were indicated a diet with a total calorie intake according to the reference daily intake (RDI), without fast sugars. Clinical feature and laboratory tests (insulin, glucose, A1C, lipid panel, liver and kidney function tests), and complementary studies (abdominal ultrasonography, echocardiogram), at the first visit and during follow-up were recorded. Statistics, version 10, was used for analysis. RESULTS: Eight patients were included. The median age at the first visit was 1.1 years (range, 0.28-9.9 years) and the median time of follow-up was 3.9 years (range, 0.4-9.47 years). The median initial triglyceride level was 516 mg/dL (range, 327-3590 mg/dL) p=0.014; median low-density lipoprotein (LDL) was 157 mg/dL (range, 94-370 mg/dL) p=0.03; median glycemia was 84 mg/dL (range, 63-126 mg/dL) p=0.02; median insulin was 28.84 µUI/mL (range, 3.9-116); median homeostatic model assessment-insulin resistance (HOMA-IR) was 5.3 (range, 1.21-23.2). After 3-6 months of diet, the median percentage of triglyceride decrease was 79.5% (range, 47-97%), LDL 44% (range, 20.5-59%), glycemia 8.8% (range, 0-53.1%), insulin 67.8% (range, 0-92.8%) p=0.02 and HOMA-IR was 81.5% (range, 50-98%) p=0.05. As of the last follow-up visit, in none of the patients, liver ultrasonography or echocardiogram had deteriorated. CONCLUSIONS: In these pediatric patients with CGL, a diet adjusted to RDI with restriction of fast sugars led to a marked improvement in metabolic parameters.

Occurrence and characterization of Campylobacter spp. isolates in dogs, cats and children / Ocorrência e caracterização de isolados de Campylobacter spp. em cães, gatos e crianças

To improve the understanding of implications of Campylobacter spp. infections in pets and children of different environments were analysed 160 faecal samples from children and 120 from pets (103 dogs and 17 cats). Campylobacter spp. were detected in 6.87% of the children and in 18.3% of the dogs and cats. From 33 stool samples positive for Campylobacter spp., 57.6% were identified as C. jejuni, and 33.4% were identified as C. coli. More than 50% of the isolates in pets were resistant to ceftiofur, sulphazotrim, norfloxacin and tetracycline. In humans, most of the isolates were resistant to amoxicillin, cefazolin, ceftiofur, erythromycin and norfloxacin. From 19 isolates of C. jejuni, 11 isolates from children and 5 from dogs contained two to four of the virulence genes flaA, pldA, cadF or ciaB. We found an association between the presence of virulence genes and diarrhoea. Furthermore, an association was observed between the presence of Campylobacter spp. and diarrhoea in dewormed pets with blood picture suggestive of bacterial infection, and the therapeutic use of antibiotics was associated with more positive detection of Campylobacter spp. in the faeces of pets. Our data indicate that virulent strains of Campylobacter spp. can be risk factor to diarrhoea in animals, and that high resistance to antimicrobial agents is common in pets.(AU)

Com o objetivo de melhorar o entendimento das infecções por Campylobacter spp. em cães, gatos e crianças no Brasil, foram avaliadas 160 amostras fecais de crianças e 120 swabs retais de pets (103 cães e 17 gatos). Do total das amostras das crianças, 6,87% foram positivas para Campylobacter spp. e em cães e gatos a positividade foi de 18,3%. Das 33 amostras positivas para Campylobacter spp., 57,6% foram identificadas como C. jejuni e 33,4% foram identificadas como C. coli. Mais de 50% das amostras isoladas de pets foram resistentes a ceftiofur, sulphazotrim, norfloxacina e tetraciclina. Em crianças, a maioria das amostras foi resistente a amoxilina, cefazolina, ceftiofur, eritromicina e norfloxacina. De 19 isolados de C. jejuni, 11 isolados de crianças e cinco (5) de cães tinham dois (2) dos quatro (4) genes de virulência flaA, pldA, cadF or ciaB. Associação positiva entre a presença de Campylobacter spp. e diarreia em cães e gatos foi observada em animais desverminados e com hemograma sugestivo de infecção bacteriana. Também houve associação positiva entre a presença dos genes de virulência e a ocorrência de diarreia, e entre o uso de antibióticos e a positividade para Campylobacter spp. em suabes fecais de pets. Os dados desse trabalho indicam que cepas virulentas de Campylobacter spp. são fatores de risco para diarreia em cães e a resistência antimicrobiana é comum em isolados de cães(AU)

La transición del sistema de atención pediátrica al de adultos en pacientes diabéticos tipo 1. Diagnóstico de situación en Argentina / Transition from pediatric to adult clinics in patients with type 1 diabetes. The current situation in Argentina

Objetivo: evaluar el Sistema de transición de los adolescentes con diabetes mellitus tipo 1 (DM1) a servicios de atención de adultos para un diagnóstico de la situación actual en Argentina. Materiales y métodos: trabajo observacional para el cual se identificaron, a través de historias clínicas, todos los pacientes que fueron seguidos en el Hospital Prof. Dr. Juan Pedro Garrahan y transferidos a centros de adultos durante cinco años. Se evaluaron indicadores clínicos y de laboratorio del control metabólico del último año de atención pediátrica y el último año de atención de adultos. Se incluyeron datos sociodemográficos e información de la transición. Se utilizó el programa Stata 11 para el análisis estadístico. Resultados: se incluyeron 38 pacientes (17 varones y 21 mujeres). La edad media fue de 21,7 años y el tiempo medio de evolución de la diabetes 10 años. Las medidas de HbA1c en el último año de atención pediátrica (Hb1) y el último año de atención de adultos (Hb2) fueron de 8,8%± 1,9 y 9,9% ±3,2 respectivamente (p:0,0048). Los pacientes con valores más altos de Hb1 empeoraron al realizar la transición. El 34% de los pacientes abandonó el seguimiento médico de adultos. Las variables significativas se evaluaron en un modelo de regresión logística donde cada punto de aumento de la Hb1 representó un OR: 2.5 de peor control metabólico adulto. Tener buen seguimiento médico previo a la transferencia resultó ser un factor protector con un OR: 0.02. Conclusión: el proceso de transición empeoró el control metabólico de los pacientes con DM1 principalmente en aquellos con peor control pediátrico y sin seguimiento médico de adultos.

[Severe hypercholesterolemia in children. Presentation of two cases and update of the literature]. / Hipercolesterolemias graves en pediatría: Presentación de dos casos.

Familial hypercholesterolemia is one of the most common genetic disorders and it provides the best evidence on the etiologic role of LDL-colesterol for arteroesclerosis development. Two patients with severe hypercholesterolemia had been presented. Importance of early diagnosis and treatment has been stated to avoid or delay atherosclerosis and coronary heart disease.

Hipercolesterolemias graves en pediatría: Presentación de dos casos / Severe hypercholesterolemia in children: Presentation of two cases and update of the literature

La hipercolesterolemia familiar es uno de los trastornos genéticos más comunes y aporta información sustancial sobre papel etiológico que el colesterol LDL tiene para el desarrollo de la ateroesclerosis. Se presentan dos pacientes con hipercolesterolemia grave. Se remarca la importancia del diagnóstico y tratamiento temprano para evitar o demorar la enfermedad ateromatosa y la enfermedad coronaria precoz.

Familial hypercholesterolemia is one of the most common genetic disorders and it provides the best evidence on the etiologic role of LDL-colesterol for arteroesclerosis development. Two patients with severe hypercholesterolemia had been presented. Importance of early diagnosis and treatment has been stated to avoid or delay atherosclerosis and coronary heart disease.

Assessment of risk factors of poor metabolic control in type 1 diabetic children assisted in a public hospital in Argentina.

OBJECTIVE: To evaluate predictive risk variables of poor diabetes control that are present at the onset of the disease. SUBJECTS AND METHODS: A prospective cohort study was carried out in a population of children with type 1 diabetes mellitus by means of a survey with information related to the clinical control of the patients, the sociodemographic and economic situations of their families, and the importance that the families attached to health care. The sample population had had the disease for over 2 yr, had no associated pathology, and was followed in an Argentinean hospital. RESULTS: Data from 148 patients, 71 male (48%), were collected, with a mean hemoglobin A1c (HbA1c) of 9.3 +/- 1.62%. Patients with HbA1c <8.4% (25th percentile) were considered as having better metabolic control (BC), and those with HbA1c >10% (75th percentile) were considered with poorer control (PC). PC was significantly associated with the fact that the patients' biological parents did not live together (p = 0.01) and had not done the diabetic education together at debut of diabetes (p = 0.007). A linear regression model was used to analyze predictors of BC: presence of both parents during diabetes instruction (OR: 3.82), both parents lived together with the patient (OR: 2.39), and lower age of patients (OR: 0.89). Predictors of PC were unsatisfied basic food needs (OR: 4.33) and mothers' low level of education (OR: 2.13). CONCLUSIONS: This study showed that socioeconomic and familial factors were strongly associated with metabolic control, and they will allow us to make an early detection of those patients who are more susceptible of having poor progression of diabetes.

Expression profile of malignant and non-malignant diseases of the thyroid gland reveals altered expression of a common set of genes in goiter and papillary carcinomas.

Using cDNA microarrays with 3800 cDNA fragments, we determined the expression profile of normal thyroid tissue, goiter, adenoma and papillary carcinoma (10 samples from each class). After background correction and statistical analysis, we identified a set of 160 genes as being differentially expressed in all pair-wise comparisons. Here we demonstrate that, at least on the basis of these differentially expressed genes, a positive correlation between goiter and papillary carcinomas could be observed. We identified a common set of genes whose expression is diminished in both goiter and papillary carcinomas as compared to normal thyroid tissue. Moreover, no genes with inverse correlation in samples from goiter and papillary carcinomas could be detected. Using Real-Time PCR and/or tissue microarrays, we confirmed the altered expression of some of the identified genes. Of notice, we demonstrate that the reduced mRNA levels of p27(kip1) observed in papillary carcinomas as compared to either goiter or normal thyroid tissues (P<0.001) is accompanied by an altered protein distribution within the cell. In papillary carcinomas, P27(KIP1) is preferentially cytoplasmic as opposed to goiter or normal thyroid tissue, where P27(KIP1) is preferentially located in the nucleus. The exploitation of the data presented here could contribute to the understanding of the molecular events related to thyroid diseases and gives support to the notion that common molecular events might be related to the frequent observation of areas of papillary carcinomas in the gland of patients with goiter.

[Evaluation of an intensive treatment education program for type 1 diabetes in a group of adolescents. A two year follow up]. / Evaluación de un programa de educación de tratamiento intensivo en adolescentes con diabetes tipo 1. Seguimiento por dos años.

During the past decade several reports were published showing that intensive treatment of type 1 diabetes can prevent and delay disease-related microvascular complications. However, several problems were reported in children and adolescents such as frequent hypoglycemic episodes and weight gain. The aim of this study was to describe the results of intensified treatment for type 1 diabetes in a group of Argentinean adolescents after a follow-up of two years. Twenty five adolescents with type 1 diabetes older than 10 years with at least one year from diagnosis were selected. All patients received a one-week teaching program during admission to our center. All patients were followed-up monthly during two years. Treatment schedule included 4-5 controls in fasting conditions, two doses of NPH insulin and four doses of regular insulin according to glycemia and the amount of calculated carbohydrate intake. Median age was 13.5 years (range 10 to 19 years). Mean time from diagnosis to inclusion in the study was 3.8 years (range 1.25 to 9 years). Mean total dose of NPH insulin decreased significantly when measured at the inclusion in the study (0.9 IU/kg) and after a year of follow-up 0.8 IU/kg (p 0.04). However, there were no changes in NPH insulin dose after two years follow-up (0.85 IU/kg). On the contrary, the dose of regular insulin administered on fasting conditions with normal glycemia increased from 0 to 0.21/kg after a year (p 0.0001) and to 0.69 after two years (non significant). Median HbA1C showed a significant reduction from 10 +/- 1.62% to 8.53 +/- 1.04% after a year (p 0.03) and to 8.72 +/- 0.81% after two years. BMI Z score increased from significantly from 0.7 +/- 0.9 to 1.06 +/- 1.15 after a year (p 0.03) with a further reduction without a significant difference from the basal value after two years. We found no significant differences in the frequency of hypoglycemia or other metabolic features. Our results show that intensive treatment of type 1 diabetes in children and adolescents can achieve significant and sustained reductions of HbA1C without increasing the risk of hypoglycemia or other adverse effects.

Evaluación de un programa de educación de tratamiento intensivo en adolescentes con diabetes tipo 1. Seguimiento por dos años. / [Evaluation of an intensive treatment education program for type 1 diabetes in a group of adolescents. A two year follow up]

During the past decade several reports were published showing that intensive treatment of type 1 diabetes can prevent and delay disease-related microvascular complications. However, several problems were reported in children and adolescents such as frequent hypoglycemic episodes and weight gain. The aim of this study was to describe the results of intensified treatment for type 1 diabetes in a group of Argentinean adolescents after a follow-up of two years. Twenty five adolescents with type 1 diabetes older than 10 years with at least one year from diagnosis were selected. All patients received a one-week teaching program during admission to our center. All patients were followed-up monthly during two years. Treatment schedule included 4-5 controls in fasting conditions, two doses of NPH insulin and four doses of regular insulin according to glycemia and the amount of calculated carbohydrate intake. Median age was 13.5 years (range 10 to 19 years). Mean time from diagnosis to inclusion in the study was 3.8 years (range 1.25 to 9 years). Mean total dose of NPH insulin decreased significantly when measured at the inclusion in the study (0.9 IU/kg) and after a year of follow-up 0.8 IU/kg (p 0.04). However, there were no changes in NPH insulin dose after two years follow-up (0.85 IU/kg). On the contrary, the dose of regular insulin administered on fasting conditions with normal glycemia increased from 0 to 0.21/kg after a year (p 0.0001) and to 0.69 after two years (non significant). Median HbA1C showed a significant reduction from 10 +/- 1.62

to 8.53 +/- 1.04

after a year (p 0.03) and to 8.72 +/- 0.81

after two years. BMI Z score increased from significantly from 0.7 +/- 0.9 to 1.06 +/- 1.15 after a year (p 0.03) with a further reduction without a significant difference from the basal value after two years. We found no significant differences in the frequency of hypoglycemia or other metabolic features. Our results show that intensive treatment of type 1 diabetes in children and adolescents can achieve significant and sustained reductions of HbA1C without increasing the risk of hypoglycemia or other adverse effects.