Water consumption in 0-6-month-old healthy infants and effective factors: A systematic review / Consumo de agua en lactantes sanos de cero a seis meses y factores efectivos: una revisión sistemática

Introduction: Early introduction of fluids and water affects the duration of breastfeeding, the infant immune system, and possibly causes infants to consume less breast milk, which may, in turn, affect their nutritional and immune status. Objective: This study was carried out to determine water consumption in 0-6-month-old infants and the factors affecting this consumption. Materials and methods: A literature review was conducted in seven electronic databases (Medline, Web of Science, PubMed, ScienceDirect, Scopus, Cochrane Library, and TÜBITAK) for studies published until April 25, 2022, using the keywords: drinking water, infant, and breastfeeding. Results: The systematic review included 13 studies. Five studies were crosssectional, three were descriptive and quasi-experimental, and the others were case-control and cohort studies. It was reported in the examined studies that 86.2% of the infants were around 6 weeks old, 44 % of the infants were 1 month old, 77% were 3 months old, 2.5% were 4 months old, and 2.5 to 85% of the infants were around 6 months old when they first consumed water. The prominent reasons for making the infants drink water are the thought that they need it and cultural reasons. Conclusions: The exclusive breastfeeding of 0-6-month-old infants is the recommendation of reliable health authorities. Nurses play a key role in implementing this practice. In this systematic review, it was seen that families gave their infants water at varying rates in the 0-6-month period, and the factors affecting this situation were revealed. If nurses determine which factors affect families in terms of the early introduction of fluids, they could be able to plan the necessary education and interventions.

Introducción. La introducción temprana de líquidos y agua afecta la duración de la lactancia, el sistema inmune del lactante y posiblemente hace que los lactantes consuman menos leche materna, lo que a su vez puede afectar su estado nutricional e inmunitario. Objetivo. Este estudio se realizó para determinar el consumo de agua en bebés de cero a seis meses y los factores que inciden en este consumo. Materiales y métodos. Se hizo una revisión de la literatura en siete bases de dato electrónicas (Medline, Web of Science, PubMed, ScienceDirect, Scopus, Cochrane Library y TÜBITAK) para estudios publicados hasta el 25 de abril de 2022, utilizando las palabras clave: agua potable, lactante y lactancia. Resultados. La revisión sistemática incluyó 13 estudios. Cinco fueron estudios transversales, tres fueron descriptivos, cuasiexperimentales y los restantes fueron estudios de casos y controles, y de cohortes. En los estudios examinados se informó que le dieron agua al 86,2 % de los lactantes de seis semanas, al 44 % de los lactantes de un mes, al 77 % de los lactantes de tres meses, al 2,5 % de los lactantes de cuatro meses y al 2,5 % a 85 % de los lactantes de seis meses. Las razones principales para dar agua a los bebés son la idea de que los bebés necesitan agua y razones culturales. Conclusiones. La lactancia materna exclusiva es la recomendación de las autoridades sanitarias para los bebés de cero a seis meses. Las enfermeras juegan un papel clave en la implementación de esta práctica. En esta revisión sistemática se observó que las familias daban agua a sus bebés en proporciones variables durante el período de cero a seis meses y se revelaron los factores que inciden en esta situación. Si las enfermeras determinan qué factores afectan a las familias en cuanto a la introducción temprana de líquidos, podrían planificar las medidas educativas y las intervenciones necesarias.

The association between the histopathological features and microsatellite instability in young patients with urothelial carcinoma of the bladder

SUMMARY OBJECTIVE: Bladder cancer under the age of 40 is extremely rare. Bladder cancer development involves complex and multi-stage processes, one of which is the DNA damage repair mechanism. In this retrospective study, we aimed to evaluate the histopathological features of bladder urothelial carcinoma seen in patients under 40 years of age and tumor microsatellite instability status using immunohistochemistry. METHODS: A total of 50 patients under the age of 40 with urothelial bladder carcinoma from two different centers in the same country were included. Expression of the mismatch repair proteins MLH1, MSH2, MSH6, and PMS2 was analyzed by immunohistochemistry. RESULTS: Age at the time of diagnosis ranged from 17 to 40 years old. Most tumors were non-invasive papillary urothelial carcinoma. Two cases had nuclear loss of MSH-6 and PMS-2. We observed that tumor grade, tumor stage, presence of tumor differentiation, and infiltrative growth pattern of the tumor have significant impact on prognosis, but microsatellite instability does not have an effective role in bladder carcinogenesis in young patients. CONCLUSIONS: Our results indicate that the presence of microsatellite instability is not related to the low tumor grade and stage in urothelial neoplasms in young patients, suggesting that urothelial carcinoma of the bladder in young patients may represent a genetically stable form of neoplasia.

Hiperglicinemia no cetósica: mutación novedosa en el gen aminometiltransferasa. A propósito de un caso / Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report

La hiperglicinemia no cetósica es un raro trastorno metabólico autosómico recesivo hereditario causado por una deficiencia en el sistema enzimático de división de la glicina mitocondrial. Se desconoce la incidencia general de la hiperglicinemia no cetósica, aunque es mayor en ciertas poblaciones, como las del norte de Finlandia (1/12 000) y de la Columbia Británica (1/63 000). Se sabe que son tres los genes que causan hiper-glicinemia no cetósica: GLDC, AMT y GCSH. Las mutaciones en el gen AMT son responsables del 20% de los casos de hiperglicinemia no cetósica. En este artículo describimos una mutación novedosa del codón de terminación (c.565C>T, p.Q189*) del gen AMT en un niño de cuatro meses de vida con hiperglicinemia no cetósica.

Nonketotic hyperglycinemia is a rare autosomal recessively inherited metabolic disorder, caused by a deficiency in the mitochondrial glycine cleavage system. The overall incidence of nonketotic hyperglycinemia is unknown, but is higher in certain populations such as north Finland (1/12,000) and British Colombia (1/63,000). Three genes (GLDC, AMT and GCSH) are known to cause nonketotic hyperglycinemia. Mutations in the AMT gene are responsible for 20% of nonketotic hyperglycinemia cases. We describe a novel stop codon mutation (c.565C>T, p.Q189*) in AMT gene in a four-month male infant with nonketotic hyperglycinemia.