Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.

BACKGROUND: 22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms. In addition, the spectrum of clinical features differs among populations and even within family members. The facial features related to this syndrome are not an exception, and although part of its variation arises through development, few studies address this topic in order to understand the intra and inter-population heterogeneities. Here, we analyze the ontogenetic dynamics of facial morphology of Mexican patients with del22q11.2 syndrome. METHODS: Frontal facial photographs of 37 patients (mean age = 7.65 ± 4.21 SE) with del22q11.2DS and 200 control subjects (mean age = 7.69 ± 4.26 SE) were analyzed using geometric morphometric methods. Overall mean shape and size differences between patients and controls were analyzed, as well as differences in ontogenetic trajectories (i.e. development, growth, and allometry). RESULTS: We found that Mexican patients show typical traits that have been reported for the Caucasian population. Additionally, there were significant differences between groups in the facial shape and size when all the ontogenetic stages were considered together and, along ontogeny. The developmental and allometric trajectories of patients and controls were similar, but they differed in allometric scaling. Finally, patients and controls showed different growth trajectories. CONCLUSION: The results suggest that the typical face of patients with del22q11.2DS is established prenatally; nonetheless, the postnatal ontogeny could influence the dysmorphology and its variability through size-related changes.

Maternal Obesity as a Risk Factor for the Development of Total Anomalous Pulmonary Venous Connection in Their Offspring.

The incidence of total anomalous pulmonary venous connection (TAPVC) in the Caucasian population is 2.5/100,000 live births (LB), and the incidence in the Hispanic population is 19.8/100,000 LB. Without knowing the exact etiology for the development of congenital heart disease, our objective was to determine the maternal factors associated with the development of TAPVC. METHODS: 55 mother-child binomials with isolated TAPVC (group I) and 152 healthy mother-child binomials (group II) were included. Both groups had no maternal history of addiction, pre-eclampsia, or type 1, 2 or gestational diabetes mellitus. Complete clinical histories were obtained for the women in both groups and perinatal and birth data were recorded. In addition, genealogies across three generations were constructed to determine affected first- or second-degree relatives with complex congenital heart disease. RESULTS: Among the maternal characteristics analyzed, women in group I had a higher number of pregnancies before gestation of the index case (p = <0.05), and the Body Mass Index (BMI) before pregnancy was higher compared to Group II (p < 0.05), with an adjusted risk of OR = 3.6 (p = 0.011). The family history showed a higher prevalence in the group of patients with TAPVC compared to healthy children (p < 0.05). CONCLUSION: Maternal obesity before pregnancy is a risk factor for the development of CATVP in children in the Mexican population.

[Effectiveness of the outpatient treatment of the community-acquired pneumonia: systematic review and meta-analysis]. / Eficacia del tratamiento ambulatorio de la neumonía adquirida en la comunidad: revisión sistemática y metaanálisis.

BACKGROUND: Community-acquired pneumonia is an important cause of mortality and morbidity worldwide. Therefore, our aim was to assess the efficacy and safety of outpatient treatment of community-acquired pneumonia. METHODS: We systematically reviewed randomized clinical trials evaluating efficacy and safety of outpatient treatment (OPT) compared with inpatient treatment (IPT) of community-acquired pneumonia in patients without added co-morbidity. Relative Risk (RR) and 95 % confidence interval (95 % CI) were calculated. RESULTS: From 4088 reviewed articles, two articles were included for meta-analysis, including 2324 patients. One study was conducted in adults, and the other was carried out in pediatric patients. Treatment setting was not significantly associated with treatment failure (RR 0.84 [95% CI 0.68, 1.02]). Death occurred in 6 of 2324 with no difference between the two groups (RR 0.56 [95 % CI 0.12-2.61]). Finally, no differences were seen in hospital readmission between groups (RR 0.82 [95 % CI 0.52-1.30]). CONCLUSION: Evidence shows that treatment setting of community-acquired pneumonia is not statistically associated with treatment failure or mortality.

Introducción: La neumonía adquirida en la comunidad (NAC) es un problema serio de salud a nivel mundial. El objetivo es evaluar la eficacia y la seguridad del tratamiento ambulatorio de la neumonía adquirida en la comunidad. Métodos: se realizó una revisión sistemática y un metaaanálisis de ensayos clínicos aleatorizados que evaluaran la eficacia y la seguridad del tratamiento ambulatorio (TA) comparado con el hospitalario (TH) de la neumonía adquirida en la comunidad, en pacientes sin comorbilidad agregada. Se calcularon riesgos relativos (RR) e intervalos de confianza al 95 % (IC 95 %). Resultados: Se identificaron 4088 títulos, solo dos artículos fueron incluidos en el metaanálisis, uno realizado en adultos y el otro en población pediátrica. Se incluyeron 2324 pacientes. El TA presentó menos fallas que el TH ( TA 12.6 frente a TH 15.21 %, RR 0.84 [IC 95% 0.68-1.02]). En relación con la seguridad se presentaron dos defunciones (0.17 %) en el TA y cuatro en el TH (0.34 %) (RR 0.56 [IC 95 % 0.12-2.61]). Finalmente, tampoco encontramos diferencia en la readmisión hospitalaria entre los grupos (RR 0.82 [IC 95 % 0.52-1.30]). Conclusión: la evidencia muestra que no existen diferencias estadísticamente significativas entre el tratamiento ambulatorio y el tratamiento hospitalario de la neumonía adquirida en la comunidad.