Neurodevelopment outcomes in the first 5 years of the life of children with transposition of the great arteries surgically corrected in the neonatal period: systematic review and meta-analysis.

OBJECTIVES: In patients with transposition of the great arteries, surgical correction may achieve definitive treatment, so a thorough knowledge of the long-term outcomes, particularly neurodevelopment outcomes, is essential. Therefore, we conducted a systematic review and meta-analysis to study the neurodevelopment outcomes in the first 5 years of the life of children submitted to corrective surgery for transposition of the great arteries in the neonatal period. METHODS: A total of 17 studies from 18 reports were included, assessing 809 individuals with surgically corrected transposition of the great arteries. The neurodevelopmental outcomes were assessed with the Bayley Scales of Infant and Toddler Development (BSID) and the Wechsler Intelligence Scale for Children (WISC). RESULTS: Mean Mental Development Index (MDI) and Psychomotor Development Index (PDI) were within the average values from 1 to 3 years of age, although the proportion of children scoring more than 1 standard deviation below the mean in PDI, MDI, motor, and language composite scores was significantly higher than in the general population. From 4 to 5 years, mean full-scale global intelligence quotient (IQ), verbal IQ, and performance IQ scores did not differ significantly from the general population. CONCLUSION: This study revealed neurodevelopment scores within the normal range at 5 years of age in children submitted to corrective surgery for transposition of the great arteries in the neonatal period. However, these early outcomes may not adequately predict long-term outcomes. Further studies are needed to identify specific risk factors and early markers of later impairment to guide the establishment of early interventions.

Thrombocytopenia requiring platelet transfusions is predictive of retinopathy of prematurity in preterm infants.

BACKGROUND: Recent studies suggest that some hematological parameters and ratios provided by blood count collected on the first day of life may be predictors for the development of retinopathy of prematurity (ROP). The aims of this study were to assess whether hematological parameters and ratios in blood count collected on the first day of life are associated with ROP. METHODS: Retrospective data collection from electronic clinical files of inborn preterm infants with a gestational age of less than 30 weeks delivered from January 2008 to December 2022, in a level III Neonatal Intensive Care Unit (NICU). We collected detailed clinical and demographic data on the mother, pregnancy, mode of delivery, resuscitation, in-hospital neonatal morbidity, pathological examination of the placenta, and hematological parameters and ratios provided by blood count collected on the first day of life. We compared neonates with or without ROP and performed a subgroup analysis on patients with ROP≥2. RESULTS: We included 140 preterm infants with ophthalmic examination; 81(57.9%) developed ROP. The need for platelet transfusions (OR=5.28; 95% CI: 1.31-21.21; P=0.019) and bronchopulmonary dysplasia (BPD) (OR=5.12; 95% CI: 1.14-22.98; P=0.033) were independent risk factors for ROP. In the multivariate analysis, no associations were found between any of the hematological parameters or ratios studied and ROP. CONCLUSIONS: In our study, hematological parameters and ratios on the first day of life were not associated with the development of ROP. However, thrombocytopenia that required platelet transfusions was associated with ROP development and severity.

Why do patients leave the Pediatric Emergency Department and what happens to them?

BACKGROUND: The dropout rate is an important indicator of the quality of emergency services. The authors intend to evaluate factors that influence abandonments in the Pediatric Emergency Department (PED) and to assess outcome and destination of the highest triage leveled patients. METHODS: Retrospective analysis of the abandonment cases occurring between 2014 and 2016 in a tertiary hospital, including sociodemographic characterization, temporal factors, triage level, referral from other health services, waiting time and patient attendance. The outcome of the highest triage level was also accessed. RESULTS: In the three years analyzed, there were 240171 PED visits, with an abandonment rate of 2.57%. PED abandonment was influenced by higher patient attendance and waiting time, a younger age, and less urgent triage level. Only 1.78% of the urgent or emergent patients (level three or two) abandoned the PED. Of these, 44% sought medical care in the next five days, 41% of which in private institutions, 40% in public hospitals and 19% in primary care. Only 0.81% of those were hospitalized. CONCLUSIONS: The majority of patients who leave the PED do not correspond to urgent cases. Health education awareness campaigns, clinical counseling platforms (online or phone services) and the improved accessibility of primary health care may optimize the usage of health resources. The reinforcement of the teams in times of greater affluence may contribute to decrease the rate of abandonment.

Quality of Life in Children Diagnosed With Non-classic Congenital Adrenal Hyperplasia.

Background Non-classical congenital adrenal hyperplasia (NC-CAH) is a chronic disease characterised by excessive androgen production that may negatively affect the quality of life (QoL) of affected patients. Pediatric Quality of Life Inventory 4.0 (PedsQL™) is a validated tool to assess health-related QoL (HRQoL). Methods A cross-sectional study including 19 patients with NC-CAH was carried out in the pediatric endocrinology department. NC-CAH patients who agreed to participate were included. Anthropometric data was collected. PedsQL™ was applied to the patients and their parents. Patients were divided into four groups according to age: 2-4, 5-7, 8-12, and 13-18 years old. The control group consisted of healthy individuals from the instrument's validation studies for the Portuguese population and the standard control population used in the PedsQL™ validation study. Results The only difference found concerns the parents' score results for children aged 8-12, which showed physical health and emotional dimension scores significantly higher (86.16±9.86 vs.68.90±23.02 p=0.004, 69.17±14.14 vs. 65.82±19.24 p=0.004), while psychosocial health's score and total scale score were significantly lower than the control group (59.99±9.90 vs. 69.34±14.07 p=0.047, 73.11±4.65 vs.78.86±16.61 p=0.017). Conclusion HRQoL scores are not negatively affected by NC-CAH in most group ages, with the exception of the parents' reports on HRQoL for children aged 8-12. Further studies with a greater number of patients are needed to determine the impact of this chronic disease on the HRQoL of children.

Nephrotoxicity in Neonates.

Acute kidney injury (AKI) is classified based on prerenal, intrinsic, and postrenal causes. In the newborn, AKI can occur after an insult during the prenatal, perinatal, or postnatal period. AKI is usually an underrecognized condition and its true incidence is unknown. AKI may result from the administration of a number of different nephrotoxic medications, which are often used concurrently in critically ill neonates, exponentially increasing the risk of renal injury. Drug toxicity may also compromise the formation and development of nephrons, and this is particularly important in preterm infants, who have incomplete nephrogenesis. Little is known about the pharmacokinetics and pharmacodynamics of different medications used in neonates, especially for the most immature infant, and the use of most medications in this population is off label. Strategies to prevent AKI include the avoidance of hypotension, hypovolemia, fluid imbalances, hypoxia, and sepsis as well as judicious use of nephrotoxic medications. Treatment strategies aim to maintain fluids and electrolytic and acid-base homeostasis, along with an adequate nutritional status. Neonates are especially prone to long-term sequelae of AKI and benefit from long-term follow-up. This review summarizes the most relevant aspects of nephrotoxicity in neonates and describes the prevention, treatment, and follow-up of AKI in neonates.

Menopausal age and XRCC1 gene polymorphisms: role in breast cancer risk.

BACKGROUND: Recent evidence that some DNA-repair functions are haploinsufficient adds weight to the notion that variants in DNA-repair genes constitute part of the spectrum of defects contributing to cancer risk. X-ray repair cross-complementing group 1 gene (XRCC1) is involved in base excision repair (BER) pathway, acting on spontaneous and induced DNA damage. This gene encodes for a scaffolding protein that brings together different proteins involved in the repair process. Among the non-synonymous polymorphisms in XRCC1 gene, codons 194 and 399 lead to amino acid changes at evolutionary conserved regions, and seem to alter the efficiency of the protein. METHODS: A hospital based case-control study was carried out in a Caucasian Portuguese population (241 cancer patients and 457 controls matched for sex and age) in order to evaluate the potential modifying role of the XRCC1 polymorphisms on the individual susceptibility to breast cancer. RESULTS: Our data did not reveal a positive association between the polymorphisms individually and breast cancer, or with the combination of the different genotypic associations. However, after stratification to the menopausal status, it was observed that carriers of the Gln/Gln genotype of the R399Q polymorphism with a menopausal age above 55 years are at increased risk for breast cancer (OR=4.074; CI=1.562-10.626; P=0.004). Concerning the Arg194Trp polymorphism, after stratification by menopausal status, it was observed that heterozygous individuals (Arg/Trp) with a menopausal age between 45 and 54 are at increased risk for breast cancer (adjusted OR=1.964; CI=1.174-3.288; P=0.01) as well as carriers of the variant allele (Arg/Trp+Trp/Trp) (adjusted OR=1.932; CI=1.156-3.228; P=0.012). CONCLUSIONS: Our results suggest that menopausal age together with Arg194Trp and Arg399Gln XRCC1 gene polymorphisms might be involved in individual susceptibility to breast cancer.