Clinical Medicine Insights-Pediatrics最新文献

Severe combined immunodeficiency (SCID) is a group of diseases characterized by low T-cell count and impaired T-cell function, resulting in severe cellular and humoral immune defects. If not diagnosed and treated promptly, infants affected by this condition can develop severe infections which will result in death. Delayed treatment can markedly reduce the survival outcome of infants with SCID. T-cell receptor excision circle (TREC) levels are measured on newborn screening to promptly identify infants with SCID. It is important for primary care providers and pediatricians to understand the approach to managing infants with positive TREC-based newborn screening as they may be the first contact for infants with SCID. Primary care providers should be familiar with providing anticipatory guidance to the family in regard to protective isolation, measures to minimize the risk of infection, and the coordination of care with the SCID coordinating center team of specialists. In this article, we use case-based scenarios to review the principles of TREC-based newborn screening, the genetics and subtypes of SCID, and management for an infant with a positive TREC-based newborn screen.

Celiac disease (CD) is a chronic autoimmune condition with intestinal and extra-intestinal features. Extra intestinal features including hematological, neurological, and endocrine symptoms are seen more frequently in elder children. A 4 years 7 months old male child presented in clinic with history of abdominal pain and diarrhea on and off for 1 year. On examination, he was hemodynamically stable, pale, and malnourished with distended abdomen. He was investigated for CD, Anti TTG IgA <0.1 (positive >10), Anti TTG IgG 13 (positive >10). To confirm celiac disease, Esophagogastroduodenoscopy (EGD) was done which was consistent with diagnosis of Celiac disease (MARSH Type 3a). Gluten free diet was advised. Later, after 12 days he again presented with jaundice, fever, anorexia, and dark colored urine and irritability. He was admitted for fulminant hepatic failure, his workup revealed direct hyperbilirubenemia, ANA +ve, and hyper IgG. Liver biopsy confirmed autoimmune hepatitis. Further workup for anemia showed reticulocyte count 7.1, LDH 423, direct and indirect coombs test was positive confirming autoimmune hemolytic anemia. Child responded well to Azathioprine and prednisolone with clinical improvement. We report a rare presentation of celiac disease with polyautoimmunity in a young child. Case reports of autoimmune hepatitis with CD patients have been reported in adult patients. Association of celiac disease with autoimmune hemolytic anemia and autoimmune hepatitis is a distinct and rare condition.

Background: We sought to determine the difference in geometric parameters in the left atrioventricular valve (LAVV) postoperative complete atrioventricular septal defect (CAVSD) compared to the normal heart, and the correlation between geometric and functional parameters for detecting the mechanism of LAVV regurgitation (LAVVR) in CAVSD.

Methods: LAVV geometric parameters based on complete and acceptable quality echocardiograms of 18 patients with repaired CAVSD compared with 17 normal controls. LAVVR severity was also quantified by indexed vena contracta (I-VC) (mm) and % jet area/left atrium area (% Jet/LA), and the correlation with LAVV parameters in the CAVSD group was investigated.

Results: In the CAVSD group, the posterior closing angle (Pc) was nearly the same as the anterior closing angle (Ac), yet in the normal heart, the Pc angle was double the Ac angle. The anterior opening angle (Ao) and posterior-to-anterior leaflet diameter ratio (a/p) in the CAVSD group was also significantly smaller. The CAVSD group also had a shorter indexed coaptation length (I-CL) and indexed tenting height (I-TH). Displacement length (ΔD) differed completely between the CAVSD and Normal groups, and also showed a strong positive correlation to the functional parameters of LAVVR (% Jet/LA: r = .70, P = .02; I-VC: r = .60, P = .02).

Conclusions: The parameters in this study were applicable to CAVSD AV valve coaptation characteristics. We introduced 2 novel measures that may provide important insights into the differences in geometry and performance of the LAVV in repaired CAVSD as compared to normal hearts.

Intestinal obstruction is one of the most common surgical emergencies in the neonatal period. Early diagnosis is vital for proper management and good outcome. Intestinal obstruction can be divided into high, for example, duodenal atresia and jejunal atresia, or low, for example, ileal atresia, colonic atresia, and Meckel's diverticulum. The most common cause of intestinal obstruction in neonates is midgut atresia. Surgical correction is needed and is a challenge in the developing countries where there is lack of pediatric surgeons, anesthesiologists, and intensive care. More research and data is also needed across countries to show the uneven distribution of the available resources.

Background: There is increasing global focus on small and nutritionally at-risk infants aged <6 months (<6 m). Current WHO guidelines recommend weight-for-length z-score (WLZ) for enrolment to malnutrition treatment programmes but acknowledge a weak evidence-base. This review aims to inform future guidelines by examining which anthropometric criteria best identify infants <6 m at high risk of mortality/morbidity.

Methods: We searched Medline, EMBASE, CINAHL, Global Health, Cochrane Library and POPLINE for studies conducted in low- and middle-income countries and published between 1990 and October 2020. We included studies reporting anthropometric assessment of nutritional status in infants <6 m and assessed the association with subsequent morbidity or mortality.

Results: A total of 19 studies were included in the final review, covering 20 countries, predominantly in sub-Saharan Africa. WLZ had poor reliability and poor prognostic ability to identify infants at risk of death. Mid-upper arm circumference (MUAC) and weight-for-age z-score (WAZ) were better at identifying infants at risk of mortality/morbidity. MUAC-for-age z-score did not perform better than using a single MUAC cut-off. Suggested MUAC cut-offs for this age group varied by context, ranging from 10.5 to 11.5 cm. The assessment for reliability showed that length was difficult to measure, making WLZ the least reliable indicator overall.

Conclusion: Evidence from our review suggests that a change in current practice is necessary. To better identify small and nutritionally at-risk infants <6 m WAZ and/or MUAC rather than WLZ should be used. Future research should explore possible benefits for programme coverage, impact and cost-effectiveness. Research should also examine if context-specific MUAC thresholds are needed.

Background: Exposure to sunlight is vital for the synthesis of vitamin-D and vitamin D plays an important role in growth and bones strength. Therefore, this study aimed to assess the knowledge and practice of infants exposure to sunlight among lactating women.

Methods: A cross-sectional study was conducted from May 01 to 30, 2019 among 327 infant coupled lactating mothers attended at Yirgalem General Hospital. An interviewer-administered questionnaire was used to collect relevant data through a convenient sampling technique.

Results: A total of 84.7% of respondents exposed infants to sunlight. More than 94% knew the benefit of exposing infants to sunlight. About 20.9%, 25.6%, and 19.9% of mothers exposed infants to sunlight within 15, 16 to 30, and 31 to 45 days of birth, respectively. In addition, 59.9% of respondents exposed infants to sunshine daily and 72.2% exposed without clothing the infants' body. Moreover, 63.5% of mothers have applied lubricants and overall 54.5% of mothers exposed infants to sunlight in good practice. Unemployed women were 4.7 times more likely (aOR; 95%CI: 4.7; 2.0-11.4) to expose infants to sunlight when compared to those employed, while women whose husbands have at least secondary education level were 5.1 times more likely (aOR; 95%CI: 5.1; 1.6-16.1) to expose infants to sunlight when compared to those unable to read and write.

Conclusion: More than 45% and more than one-third of lactating mothers had poor practice and exposed infants to sunlight for inadequate time, respectively. Therefore, the finding indicates a need for awareness creation to increase women's knowledge and practice toward the exposure of infants to sunlight.

Respiratory syncytial virus (RSV) is one of the leading causes of lower respiratory tract infections in young children. Globally, there is huge disease burden, high treatment cost, and health impact beyond acute episodes due to RSV which necessitate development and implementation of preventive strategies for the control of RSV infection. The disease burden due to RSV in pediatric population across India is still not clearly understood so this literature review was therefore conducted to gather data on disease burden due to RSV in Indian pediatric population. Systematic literature search was performed using PubMed and Google search with different medical subject headings from 2007 to 2020. Studies performed in Indian pediatric population were selected for review. Literature review revealed that in India, epidemiology of RSV infection is well documented in young children (0-5 years) as compared to children from other age groups. The rates of RSV detection in various studies conducted in younger children (0-5 years) vary from 2.1% to 62.4% in India which is higher as compared to children from other age groups. In India, RSV mainly peaks around rainy to early winter season, that is, during months of June through October while smaller peak was noted during December, January, and February. In 2020, higher RSV-associated disease burden was reported among children (<5 years) in low-income and lower-middle-income countries. Considering significant disease burden due to RSV in young Indian children, availability of RSV vaccine would be crucial to prevent RSV infections in children and its spread in the community.