Influence of feeding practices in the composition and functionality of infant gut microbiota and its relationship with health.

Establishing the infant's gut microbiota has long-term implications on health and immunity. Breastfeeding is recognized as the best practice of infant nutrition in comparison with formula feeding. We evaluated the effects of the primary feeding practices by analyzing the infant growth and the potential association with gut diseases. A cross-sectional and observational study was designed. This study included 55 mothers with infants, who were divided according to their feeding practices in breastfeeding (BF), formula feeding (FF), and combined breast and formula feeding (CF). Anthropometric measurements of the participants were recorded. Additionally, non-invasive fecal samples from the infants were collected to analyze the microbiota by sequencing, immunoglobulin A (IgA) concentration (ELISA), and volatile organic compounds (gas chromatography with an electronic nose). Results showed that the microbiota diversity in the BF group was the highest compared to the other two groups. The IgA levels in the BF group were twice as high as those in the FF group. Moreover, the child´s growth in the BF group showed the best infant development when the data were compared at birth to the recollection time, as noted by the correlation with a decreased concentration of toxic volatile organic compounds. Interestingly, the CF group showed a significant difference in health status when the data were compared with the FF group. We conclude that early health practices influence children's growth, which is relevant to further research about how those infants' health evolved.

A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.

Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array-CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to ZEB2, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome.

Efecto de la suplementación de omega 3 sobre IMC, ICC y composición corporal en mujeres obesas / Effect of Omega 3 fatty acids on body female obese composition

La evidencia sobre los posibles mecanismos de utilización de los ácidos grasos Omega 3 para mediar la obesidad requiere continuar con estudios clínicos con metodologías concretas. El objetivo fue evaluar mediante impedancia bioeléctrica el efecto de la suplementación de omega 3 sobre el Indicé de Masa Corporal (IMC), Índice Cintura Cadera (ICC) y composición corporal en mujeres obesas. Participaron 60 mujeres obesas adultas (IMC >30 Kg/m²) que fueron aleatorizadas en 3 grupos: Grupo 1) placebo, vitamina E (200 UI), Grupo 2) 1 g de omega 3) y Grupo 3) 2 g de omega 3. Todas recibieron dieta hipocalórica y ejercicio moderado. Se midieron; peso, IMC, índice cintura cadera y distribución grasa al inicio y cada mes por tres meses. Los resultados muestran que la suplementación con omega 3 tuvo una relación dosis respuesta disminuyendo significativamente el peso, IMC y la masa grasa total, en comparación con el grupo control. Estos efectos dependieron del tiempo y cantidad de Omega 3 suplementada, cuando se ajustó por el grado de cumplimiento de ejercicio, apego a la dieta y edad. Concluimos que la suplementación con Omega 3 es un coadyuvante eficaz en el manejo de la obesidad en mujeres premenopáusicas.

Evidence on the possible mechanisms for the use of Omega 3 fatty acids to mediate obesity requires clinical studies continue with specific methodologies. The aim was to assess the effect of omega-3 supplementation on Body Mass Index (BMI), Wais - Hip Index (WHI) and body composition of obese women using bioelectrical impedance. Subjects 60 premenopausal obese women (BMI > 30Kg/m²) were randomly assigned to 3 groups: Group 1) placebo, vitamin E (200 IU), group 2) 1 g of omega and group 3) 2 g of omega-3. All of them received a low calorie diet and moderate exercise. Weight, BMI, WHI, and fat distribution were measured at the beginning and every month for three months. The results show us Omega-3 supplementation significantly reduced weight, BMI, and total fat mass, compared to the control group, a dose-response effect. These effects depended on the time and amount of Omega 3 supplemented, when the degree of compliance of exercise, adherence to the diet and age were controlled. In conclusion the supplementation with omega- 3 is an efficient method in the management of obesity in premenopausal women.

Hallazgos clínicos y moleculares en una paciente con ataxia por deficiencia de vitamina E, homocigota para la mutación c.205-1G>C en el gen TTPA / Clinical and molecular findings in a patient with ataxia with vitamin E deficiency, homozygous for the c.205-1G>C mutation in the TTPA gene

Introducción. La ataxia por deficiencia de vitamina E es causada por mutaciones en el gen TTPA . Está caracterizada por ataxia, arreflexia, temblor cefálico, pérdida de la propiocepción, Babinsky, disdiadococinesia, retinitis pigmentosa y cardiomiopatía. Caso clínico. Se trató de una paciente del sexo femenino de 11 años, padres consanguíneos, valorada por dolor y parestesias en miembros inferiores, disartria y problemas para escribir y masticar. El examen físico mostró fuerza distal disminuida, hiperreflexia, Babinsky, disminución en la propiocepción, pie cavo bilateral, dismetría, disdiadococinesia y Romberg positivo. El estudio para ataxia de Friedreich resultó normal, aunque presentó bajos niveles de a-tocoferol y se identificó una mutación homocigota c.205-1G>C en el gen TTPA . Se inició tratamiento con vitamina E con lo que mostró mejoría. Conclusiones. Ante la presencia de manifestaciones parecidas a la ataxia de Friedreich se sugiere evaluar niveles plasmáticos de α-tocoferol y realizar estudios genéticos confirmatorios. El tratamiento con vitamina E disminuye los síntomas en los afectados y los presintomáticos no desarrollan manifestaciones del trastorno. Se han reportado pocos casos en Latinoamérica. En esta paciente se encontró una mutación en estado homocigoto fuera de las áreas de mayor prevalencia. Dichos hallazgos clínicos pueden indicar que la mutación c.205-1G>C se asocia con un cuadro severo.

Background. Ataxia with vitamin E deficiency is a disorder caused by mutations in the TTPA gene. Common symptoms include ataxia, areflexia, head titubation, loss of proprioception, Babinsky sign, dysdiadochokinesia, pigmentary retinopathy and cardiomyopathy. Case report. The patient was the first child of consanguineous parents. She presented at 10 years of age due to bilateral lower limb pain and numbness and difficulty in speech, writing and chewing. Physical examination showed dysarthria, diminished distal strength, hyperreflexia, positive Babinsky sign, decreased proprioception, pes cavus, dysmetria, dysdiadochokinesia and positive Romberg sign. Genetic screening for the Friedreich's ataxia gene resulted negative, α-tocopherol levels were low and TTPA gene sequentiation detected the homozygous mutation c.205-1G >C in intron 1. Treatment was initiated with vitamin E, showing improvement of symptoms. Conclusions. The presence of Friedreich's ataxia-like phenotype suggests the need to perform tests of plasma levels of α-tocopherol and the confirmatory genetic test. Treatment with vitamin E decreases symptoms in both affected and presymptomatic individuals. Few patients have been described in America, and our case showed a homozygous mutation outside of high-prevalence areas. Clinical findings of this patient and a previous case would indicate that the c.205-1G>C mutation is associated with severe symptoms.

[Effect of Omega 3 fatty acids on body female obese composition]. / Efecto de la suplementación de omega 3 sobre IMC, ICC y composición corporal en mujeres obesas.

Evidence on the possible mechanisms for the use of Omega 3 fatty acids to mediate obesity requires clinical studies continue with specific methodologies. The aim was to assess the effect of omega-3 supplementation on Body Mass Index (BMI), Wais - Hip Index (WHI) and body composition of obese women using bioelectrical impedance. Subjects 60 premenopausal obese women (BMI > 30Kg/m2) were randomly assigned to 3 groups: Group 1) placebo, vitamin E (200 IU), group 2) 1 g of omega and group 3) 2 g of omega-3. All of them received a low calorie diet and moderate exercise. Weight, BMI, WHI, and fat distribution were measured at the beginning and every month for three months. The results show us Omega-3 supplementation significantly reduced weight, BMI, and total fat mass, compared to the control group, a dose-response effect. These effects depended on the time and amount of Omega 3 supplemented, when the degree of compliance of exercise, adherence to the diet and age were controlled. In conclusion the supplementation with omega-3 is an efficient method in the management of obesity in premenopausal women.

[Prognostic value of pre-B immunophenotype in early treatment response among acute pediatric lymphoblast leukemia patients]. / Valor pronóstico del inmunofenotipo en la respuesta temprana de la leucemia aguda linfoblástica pre-B en niños.

OBJECTIVE: To determine the prognostic value of preB immunophenotype and its variants on early treatment response among of acute pediatric lymphoblast leukemia. PATIENTS AND METHODS: A case-control study nested in a cohort was carried out with male and female patients 15 years and younger with recently diagnosed pre-B lymphoblast leukemia. A panel of B, T, monoclonal antibodies of the myelo-monocytic and megakaryocytic cell type was used. Response was assessed by bone marrow aspiration 14 days post treatment. RESULTS: 54 patients were included. The median age was 7 years (2 months - 14 years) median leukocyte count was 13,450/mm3 (1200-986,000/mm3). We identified 29 cases with late pre-B immune phenotype, 19 cases with common pre B and 6 cases with early preB immunophenotype. Eleven, patients also displayed myeloid antigens. A significant association (p=0.034) was found between early treatment response and the presence of myeloid antigens. No association was found between the pre-B immunophenotype, age and leukocyte count with early treatment response (p=0.264). CONCLUSIONS: We need to pay special emphasis on early treatment response in children with lymphoblast leukemia as our study did not corroborate the common finding that clinical factors and immune phenotype can be predictive factors.

Valor pronóstico del inmunofenotipo en la respuesta temprana de la leucemia aguda linfoblástica pre-B en niños / Prognostic value of pre-B immunophenotype in early treatment response among acute pediatric lymphoblast leukemia patients

Objetivo: Determinar el valor pronóstico del inmunofenotipo pre B con sus variantes en la respuesta temprana al tratamiento de la leucemia aguda linfoblástica pediátrica, ajustando edad y cifra de leucocitos inicial. Pacientes y método: Se realizó un estudio de casos y controles anidado en una cohorte con pacientes menores de 15 años de edad, de los dos géneros, con leucemia aguda linfoblástica pre B de diagnóstico reciente. Se utilizó un panel de anticuerpos monoclonales específicos de la estirpe B, T, monocito mielocito y megacariocítica. Se evaluó la respuesta después de 14 días de tratamiento mediante aspirado de médula ósea. Resultados: Se incluyeron 54 pacientes. La mediana de edad fue de 7 años (2 m 14 años), la mediana de cifra de leucocitos fue 13,450/mm³ (1200-986,000/mm³). Se identificaron 29 casos con inmunofenotipo Pre B tardío, 19 casos pre B común y 6 casos de pre B precoz. Once pacientes presentaron antígenos mieloides asociados. Se encontró asociación significativa (p=0.034) entre respuesta temprana y la presencia de antígenos mieloides. No se demostró asociación entre las variantes del inmunofenotipo pre B, edad y cifra de leucocitos con la respuesta temprana (p=0.264). Conclusiones: Es necesario estudiar directamente la respuesta tem prana al tratamiento en los niños con leucemia linfoblástica ya que en nuestra muestra de pacientes los factores clínicos y el inmunofenotipo no fueron predictivos de ésta.

Objective: To determine the prognostic value of pre B immunophenotype and its variants on early treatment response among of acute pediatric lymphoblast leukemia. Patients and methods: A case control study nested in a cohort was carried out with male and female patients 15 years and younger with recently diagnosed pre B lymphoblast leukemia. A panel of B, T, monoclonal antibodies of the myelo monocytic and megakaryocytic cell type was used. Response was assessed by bone marrow aspiration 14 days post treatment. Results: 54 patients were included. The median age was 7 years (2 months - 14 years) median leukocyte count was 13,450/mm3 (1200-986,000/mm3). We identified 29 cases with late pre B immune phenotype, 19 cases with common pre B and 6 cases with early pre B immunophenotype. Eleven patients also displayed myeloid antigens. A significant association (p=0.034) was found between early treatment response and the presence of myeloid antigens. No association was found between the pre B immunophenotype, age and leukocyte count with early treatment response (p=0.264). Conclusions: We need to pay special emphasis on early treatment response in children with lymphoblast leukemia as our study did not corroborate the common finding that clinical factors and immune phenotype can be predictive factors.

Características clínicas de la diarrea crónica asociada a Cryptosporidium / Cryptosporidium-associated chronic diarrhoea in malnourished infants

Introducción. Objetivo: describir las manifestaciones clínicas y de laboratorio de la diarrea crónica asociada a Cryptosporidium en lactantes desnutridos. Material y métodos. Cryptosporidium fue buscado en las heces de niños desnutridos de 2 a 24 meses de vida con diarrea crónica. Se excluyeron pacientes con inmunosupresión. Resultados. De 34 pacientes 20 fueron del sexo masculino, 14 fueron positivos para Cryptosporidium. La pérdida de peso durante su internamiento fue mayor (P= 0.001) en los positivos que en los negativos (24.2 por ciento) ; 83 por ciento de los positivos que no incrementaron peso estuvieron relacionados a la presencia de substancias reductoras en heces. La fiebre y el período más largo de internamiento fueron mayores en el grupo de positivos. Los exámenes de laboratorio no mostraron diferencias entre los grupos; el sodio en evacuaciones fue mayor de 70 mEq/L en los positivos. Conclusión. Los niños desnutridos con Cryptosporidium pueden desarrollar pérdida de peso y malabsorción de carbohidratos