RESUMEN
Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles. Here, we describe a case of a two-month-old female with an atypical presentation of Joubert syndrome. Her initial clinical presentation included respiratory distress and concerns for reflux complicated with aspiration pneumonia. Early recognition of clinical and radiologic findings for Joubert syndrome enables an early diagnosis, and therefore timely interventions for improving the child's development and quality of life.
RESUMEN
Sjogren's syndrome (SS) is an autoimmune disease characterized by inflammation of exocrine glands. The disorder predominantly affects middle-aged women. Autoantibodies, including anti-SS-A/Ro and anti-SS-B/La antibodies, are present in most cases of SS. These antibodies can cross the placenta and likely play a role in pregnancy complications as well as the development of neonatal lupus, resulting in congenital heart block (CHB). It is essential to monitor the fetus for CHB during pregnancy. In particular, screening with echocardiography and monitoring heart rate at home are recommended practices. Regarding medical management, hydroxychloroquine and glucocorticoids have shown promise in reducing cardiac manifestations, but further research is needed to elucidate their longer term efficacy and safety. This scoping review analyzes literature from 2001 to 2024, focusing on pregnancy outcomes among women with SS, clinical manifestations of neonatal lupus, the role of anti-SS-A/Ro and anti-SS-B/La antibodies in the development of neonatal lupus and CHB, and emphasizes the need for future research efforts to refine treatment protocols and enhance clinical care strategies for pregnant women with SS.
RESUMEN
Hirschsprung disease is an uncommon medical condition caused by the lack of migration of ganglion cells to the rectum during embryonic development, affecting the peristaltic movements of the intestine. It is a chronic medical condition responsible for chronic constipation and intestinal obstruction. We present the case of a 10-year-old female with a history of Hirschsprung disease and colectomy admitted to a pediatric hospital for the management of multiple colonic ulcers and severe anemia who subsequently developed a rectovaginal fistula. This patient's admission was complicated by perianal and vaginal excoriations, a paralytic ileus, and fecal incontinence. This case report is unique due to the development of a rare pediatric complication of Hirschsprung disease.
RESUMEN
A source of support during birth could be the solution to negative outcomes for the mother and her baby. To improve the birthing experience and increase positive birthing outcomes, sources of support during pregnancy should be evaluated and understood. The goal of this review was to synthesize the existing literature on how doulas might improve birth outcomes. This scoping review also aimed to shed light on the positive impact emotional support during childbirth can have on the health and well-being of mother and child. PubMed and EBSCOhost were used to identify articles using the search words with Boolean operators "doulas" AND "labor support" AND "birth outcomes" AND "pregnancy" AND "effects during labor." The eligibility criteria for article selection included primary studies investigating how doulas contributed to birth outcomes. The studies in this review indicated that doula guidance in perinatal care was associated with positive delivery outcomes including reduced cesarean sections, premature deliveries, and length of labor. Moreover, the emotional support provided by doulas was seen to reduce anxiety and stress. Doula support, specifically in low-income women, was shown to improve breastfeeding success, with quicker lactogenesis and continued breastfeeding weeks after childbirth. Doulas can be a great resource for birthing mothers, and consideration should be given to using them more, as they may have a positive impact on the well-being of the mother and child. This study raised questions about the accessibility of doulas and how they may help mitigate health disparities among women from different socioeconomic levels.