ABSTRACT
Introduction The resulting neonatal, weight of the newborn (NB) is considered as a health indicator since the nutritional status of the neonate can have repercussions on the growth and development of the child until adulthood. Secondly, preterm delivery is associated with several maternal risk factors, such as the presence of anemia, adolescence, or advanced age. The aim of the study was to determine the maternal risk factors related to neonatal outcomes in primiparous. Methods A descriptive, observational, quantitative, longitudinal, and non-experimental study was conducted. Data were collected from women who gave birth from September 2021 to August 2022, in a Microsoft Excel database and the analysis was performed using SPSS software, version 26. Results The study population consisted of 224 pregnant women, aged 16 to 41 years, with a mean of 21 years (SD ± 4 years), the most predominant age range was under 20 years, with 53.33%, 81.7% were of middle socioeconomic status, 50.4% had basic education, 89.7% self-identified as mestizo race, 86.2% were of Ecuadorian nationality, and 96.0% resided in the urban area. A total of 97.8% were term NB, 69.9% were normal weight, and 96.4% had an Apgar score of 8 to 10 in the first minute after birth. Maternal factors related to Apgar 7 were adolescent and elderly women, with an odds ratio (OR) of 2.180; having maternal comorbidity OR: 2.0612; the factors related to preterm and post-term neonates were the degree of primary and basic education, OR: 2.0, without statistical significance (p>0.05). And in relation to low weight and high weight, we have an academic education OR: 3.0417, without statistical significance (p>0.05); and mothers with a history of previous abortions, OR: 8.6000, with high statistical significance (p<0.05). Conclusions Among the main maternal factors related to neonatal outcome in primiparous pregnant women were educational level, age, number of prenatal checkups, and history of previous abortions.
ABSTRACT
Niemann-Pick disease (NPD) A/B is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Systemic signs are cholestatic jaundice in the neonatal period or hepatosplenomegaly in infancy. The clinical course experienced by our patient did not correspond to the classic phenotypes. The diagnosis was effectively made at four years and three months of age when different signs such as abdominal distension, hepatosplenomegaly, and chronic malnutrition were present. Given the high suspicion of metabolic storage disease, an enzyme activity study, liver and bone marrow biopsies, and molecular studies were performed. In the bone marrow biopsy, pseudo-Gaucher foam cells were observed. Additionally, the liver biopsy showed dispersed ballooned cells with deposit material and nested cells with granular material. The double enzymatic assay was ordered to determine if the cause of these findings was due to Niemann-Pick or Gaucher disease; decreased sphingomyelinase activity values were obtained (0.28 mcoml/L/h). Subsequently, the molecular genetics study reported a double alteration in the sequence that encodes the SMPD1 gene, located on chromosome 11p15.4, which confirmed NPD type A or B. The overlap and the lack of some findings made the diagnosis very difficult. Diagnosis is crucial due to the multisystem involvement that this LSD can have.