Microcephaly in Neurometabolic Diseases

Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in turn, can cause certain neurometabolic diseases. Disruption of metabolic pathways, and the inhibition at earlier stages, may lead to the storage of reaction intermediates, which are often toxic to the developing brain. Symptoms are caused by the progressive deterioration of mental, motor, and perceptual functions. The authors review the diseases with microcephaly, which may be one of the most visible signs of neurometabolic disorders.

Trend and Outcomes for Surgical Versus Transcatheter Patent Ductus Arteriosus Closure in Neonates and Infants at US Children’s Hospitals

Background Pharmacologic therapy for patent ductus arteriosus closure is not consistently successful. Surgical ligation (SL) or transcatheter closure (TC) may be needed. Large multicenter analyses comparing outcomes and resource use between SL and TC are lacking. We hypothesized that patients undergoing TC have improved outcomes compared with SL, including mortality, hospital and intensive care unit length of stay, and mechanical ventilation. Methods and Results Using the 2016 to 2020 Pediatric Health Information System database, characteristics, outcomes, and charges of patients aged <1 year who underwent TC or SL were analyzed. A total of 678 inpatients undergoing TC (n=503) or SL (n=175) were identified. Surgical patients were younger (0.1 versus 0.53 years; P <0.001) and more premature (60% versus 20.3%; P <0.001). Surgical patients had higher mortality (1.7% versus 0%; P =0.02). Using inverse probability of treatment weighting by the propensity score, multivariable‐adjusted analyses demonstrated favorable outcomes in TC: intensive care unit admission rates (adjusted odds ratio [OR], 0.2; 95% CI, 0.11–0.32; P <0.001); mechanical ventilation rates (adjusted OR, 0.3; 95% CI, 0.19–0.56; P <0.001); and shorter hospital (adjusted coefficient, 2 days shorter; 95% CI, 1.3–2.7; P <0.001) and postoperative (adjusted coefficient, 1.2 days shorter; 95% CI, 0.1–2.3; P =0.039) stays. Overall charges and readmission rates were similar. Among premature neonates and infants, hospital (adjusted difference in medians, 4 days; 95% CI, 1.7–6.3 days; P <0.001) and postoperative stays (adjusted difference in medians, 3 days; 95% CI, 1.1–4.9 days; P =0.002) were longer for SL. Conclusions TC is associated with lower mortality and reduced length of stay compared with SL. Rates of TC continue to increase compared with SL.

Literature review: Effects of Katuk Leaf (Sauropus androgynus L. Merr) on Breast Milk Increase

Breast milk is considered the best form of nutrition for neonates and infants. The properties of breast milk facilitate the transition of life from in utero to ex utero. Breast milk provides a variety of bioactive substances for the developing baby during the early period of brain, immune and gut development. Katuk leaves (Sauropus androgni) are found very abundantly in Indonesia. People use S. androgyny as a traditional herbal medicine and are believed to have it to increase breast milk production. There are many publications that show the effect of lactagogum (an agent to increase milk production) of this plant. In several studies conducted there is evidence that the role of phytosterols and papaverine are two components that can increase the hormones prolactin and oxytocin. Scientific sources were obtained from Google Scholar and Pubmed in the form of textbooks and scientific journals totaling 24 units. Giving the extract resulted in a smoother circulation of the oxytocin hormone. The purpose of this literature review is to discuss the effect of S. androgynus which is believed to have a beneficial effect on breast milk production in and can be an agent of breast milk production in future research subjects.

The influence of mother's diseases and complications of pregnancy on the development of allergic reactions in neonates and infants

The article reviews the materials dealing with the role of mothers diseases, complications of pregnancy, and unfavorable environmental factors in formation of immunological reactions in neonates. The author emphasizes the role of disturbances of afterbirth state in case of gestosis, infections, mothers smoking.Peculiarities of immune mechanisms of neonates compared with those of elder children determine their reactivity and early development of allergic diseases.

Anatomical Classification and Posttreatment Remodeling Characteristics to Guide Management and Follow-Up of Neonates and Infants With Coronary Artery Fistula: A Multicenter Study From the Coronary Artery Fistula Registry

Background: Coronary artery fistulas (CAFs) presenting in infancy are rare, and data regarding postclosure sequelae and follow-up are limited. Methods: A retrospective review of all the neonates and infants (<1 year) was conducted from the CAF registry for CAF treatment. The CAF type (proximal or distal), size, treatment method, and follow-up angiography were reviewed to assess outcomes and coronary remodeling. Results: Forty-eight patients were included from 20 centers. Of these, 30 were proximal and 18 had distal CAF; 39 were large, 7 medium, and 2 had small CAF. The median age and weight was 0.16 years (0.01–1) and 4.2 kg (1.7–10.6). Heart failure was noted in 28 of 48 (58%) patients. Transcatheter closure was performed in 24, surgical closure in 18, and 6 were observed medically. Procedural success was 92% and 94 % for transcatheter closure and surgical closure, respectively. Follow-up data were obtained in 34 of 48 (70%) at a median of 2.9 (0.1–18) years. Angiography to assess remodeling was available in 20 of 48 (41%). I. Optimal remodeling (n=10, 7 proximal and 3 distal CAF). II. Suboptimal remodeling (n=7) included (A) symptomatic coronary thrombosis (n=2, distal CAF), (B) asymptomatic coronary thrombosis (n=3, 1 proximal and 2 distal CAF), and (C) partial thrombosis with residual cul-de-sac (n=1, proximal CAF) and vessel irregularity with stenosis (n=1, distal CAF). Finally, (III) persistent coronary artery dilation (n=4). Antiplatelets and anticoagulation were used in 31 and 7 patients post-closure, respectively. Overall, 7 of 10 (70%) with proximal CAF had optimal remodeling, but 5 of 11 (45%) with distal CAF had suboptimal remodeling. Only 1 of 7 patients with suboptimal remodeling were on anticoagulation. Conclusions: Neonates/infants with hemodynamically significant CAF can be treated by transcatheter or surgical closure with excellent procedural success. Patients with distal CAF are at higher risk for suboptimal remodeling. Postclosure anticoagulation and follow-up coronary anatomic evaluation are warranted.

Invasive Group B Streptococcal Disease in Neonates and Infants, Italy, Years 2015–2019

Invasive infections by group B streptococci (iGBS) are the leading cause of sepsis and meningitis in the first three months of life worldwide. The clinical and microbiological characteristics of neonatal and infant iGBS in Italy during the years 2015–2019 were investigated. Voluntary-based surveillance reported 191 cases (67 early-onset (EOD) and 124 late-onset disease (LOD)) and 89 bacterial isolates were received. The main clinical manifestations were sepsis (59.2%) followed by meningitis (21.5%), bacteremia (12.0%) and septic shock (6.3%). Hospitalized preterm babies accounted for one third of iGBS and constituted the most fragile population in terms of mortality (8.2%) and brain damage (16.4%). GBS serotype III was predominant in EOD (56%) and caused almost all LOD (95%). The rate of resistance to clindamycin reached 28.8%. Most of clindamycin-resistant GBS strains (76%) were serotype III-ST17 and possessed the genetic markers of the emerging multidrug resistant (MDR) CC-17 sub-clone. Our data revealed that iGBS is changing since it is increasingly reported as a healthcare-associated infection (22.6%), mainly caused by MDR-CC17. Continuous monitoring of the clinical and microbiological characteristics of iGBS remains of primary importance and it represents, at present, the most effective tool to support prevention strategies and the research on the developing GBS vaccine.

Unusual Presentation of Pulmonary Interstitial Glycogenosis: A Case Report Study

Introduction: Pulmonary interstitial glycogenosis (PIG) is a kind of children’s interstitial lung disease (ChILD). This is exclusively limited to neonates and infants. Often, PIG is diagnosed in the lung biopsy in a short time after birth (usually < 6 months). Most cases of PIG in infants are symptomatic within the first days to weeks of life. PIG expresses itself with diverse clinical symptoms such as tachypnea and hypoxia and may lead to acute respiratory failure in neonates. Case Presentation: In this case report study, we presented a 1.5-year-old boy with the chief complaint of stage 4 clubbing in fingers and toes. Mild chest deformity was observed in his physical exam. No evidence of respiratory and cardiac complications was observed. Initial lab tests and further specific studies were normal. His parents did not mention the history of any diseases in this patient. His chest X-ray (CXR) showed hyperinflated lungs, diffuse bilateral interstitial infiltration, and hazy opacities. Ground glass opacities (GGO) and interlobular septal thickening and cystic changes with reversed halo sign in both lungs were observed in his chest computerized tomography (CT). Finally, pulmonary biopsy showed a high level of glycogen-laden mesenchymal cells in the interstitium of alveoli, and vimentin-positive interstitial infiltration in lung parenchyma confirmed the PIG diagnosis. Conclusions: The new manifestation of PIG, which has been reported in this case, can be beneficial for future diagnoses of PIG.

Surgical techniques for aortic valve xenotransplantation

Background Heart valve replacement in neonates and infants is one of the remaining unsolved problems in cardiac surgery because conventional valve prostheses do not grow with the children. Similarly, heart valve replacement in children and young adults with contraindications to anticoagulation remains an unsolved problem because mechanical valves are thrombogenic and bioprosthetic valves are prone to early degeneration. Therefore, there is an urgent clinical need for growing heart valve replacements that are durable without the need for anticoagulation. Methods A human cadaver model was used to develop surgical techniques for aortic valve xenotransplantation. Results Aortic valve xenotransplantation is technically feasible. Subcoronary implantation of the valve avoids the need for a root replacement. Conclusion Aortic valve xenotransplantation is promising because the development of GTKO.hCD46.hTBM transgenic pigs has brought xenotransplantation within clinical reach.