Identification of insulin gene variants in neonatal diabetes

Abstract
Objectives: Permanent neonatal diabetes (PNDM) is caused by mutations in the genes responsible for the synthesis of different proteins that are important for the normal behavior of beta cells in the pancreas. Mutations in the insulin gene (INS) are considered as one of the causes of diabetes in neonates. This study aimed to investigate the genetic variations in the INS gene in a group of Egyptian infants diagnosed with PNDM.

Methods: We screened exons 2 and 3 with intronic boundaries of the INS gene by direct gene sequencing in 30 PNDM patients and 20 healthy controls. A detailed clinical phenotyping of the patients was carried out to specify the diabetes features in those found to carry an INS variant.

Results: We identified five variants (four SNPs and one synonymous variant), c(0).187?+?11T?>?C, c.-17-6T?>?A, c.*22A?>?C, c.*9C?>?T, and c.36G?>?A (p.A12A), with allelic frequencies of 96.7%, 80%, 75%, 5%, and 1.7%, respectively. All showed no statistically significance difference compared with the controls, with the exception of c.*22A?>?C.

Conclusion: Genetic screening for the INS gene did not reveal an evident role in the diagnosis of PNDM.

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Basic-targeted echocardiography for neonatologists: a trainee’s perspective

Abstract
Targeted echocardiography has been promoted by neonatologists in recent years but some aspects of its efficacy remain unexplored. We carried out a survey among trainees of targeted echocardiography courses in order to describe their professional characteristics and abilities. Thirty-eight former trainees were included in the survey. Seventy-six percent were experienced neonatologists and 84% practiced other bedside ultrasound diagnostics. Respondents practiced all major indications of targeted echocardiography, with a variable degree of interaction with available Cardiology services. For all but one indications, less than half of the participants use it independently of a pediatric cardiologist support, with percentages varied between 2% (for use of inhaled nitric oxide) and 53% (to assess myocardial contractility). When planning a standard of education and evaluation of targeted echocardiography, a careful consideration of the profile of the final utilizer is an invaluable piece of information.

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Impact of preterm birth on infant mortality for newborns with congenital heart defects: The EPICARD population-based cohort study

Congenital heart defects (CHD) and preterm birth (PTB) are major causes of infant mortality. However, limited data exist on risk of mortality associated with PTB for newborns with CHD. The study objective was to assess impact of PTB on risk of infant mortality for newborns with CHD, while taking into account the role of associated anomalies and other potentially confounding factors.

This study concluded that Preterm birth is associated with an approximately four-fold higher risk of infant mortality for newborns with CHD. This excess risk appears to be mostly limited to newborns <35 weeks of gestation and is disproportionately due to early deaths.

 

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Neonatal respiratory morbidity following exposure to chorioamnionitis

There are conflicting results in the literature on the impact of chorioamnionitis on neonatal respiratory morbidities. This study aimed to determine whether chorioamnionitis affects the incidence of respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) after accounting for the increased risk of death.

 

Retrospective cohort study using linked birth and infant death registration and hospitalization records from Washington State between 2002 and 2011 (n = 763,671 singleton infants and n = 56,537 singleton preterm infants). Logistic regression models based on the traditional and fetuses-at-risk approaches were used to model two composite outcomes namely RDS and perinatal death and BPD and perinatal death. Confounders adjusted for in the models included maternal age, race, diabetes, hypertension, antenatal corticosteroids, mode of delivery and infant sex.

 

While models using the traditional approach found a significant association only between chorioamnionitis and composite BPD and perinatal death (OR = 1.23, 95% CI: 1.01–1.50); using the fetuses-at-risk approach, there was a significant association between chorioamnionitis and both composite outcomes (RDS and perinatal death OR = 2.74, 2.50–3.01; BPD and perinatal death OR = 5.18, 95% CI: 4.39–6.11).

 

The fetuses-at-risk approach models the causal impact of chorioamnionitis on the development of the fetal lung and shows an increased risk of RDS, BPD and perinatal death associated with such maternal infection.

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Clonidine for neonates receiving mechanical ventilation

A new Cochrane Systematic Review looking at whether clonidine reduces mortality and the duration of mechanical ventilation in term and preterm newborn infants has found that “Clonidine did not reduce death, duration of mechanical ventilation, or duration of stay in the intensive care unit. Sedation and pain scale values were lower among newborns receiving clonidine”. The review concludes that ” Owing to the small number of newborns included in the single included trial, we are uncertain as to whether clonidine is effective or safe in providing analgesia and sedation for mechanically ventilated neonates.

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Rallying the Troops: How Sharing Knowledge With Grandparents Supports the Family of the Preterm Infant in Neonatal Intensive Care Unit

Research concludes that there is a need for educational programs for grandmothers, as well as networking opportunities; educational programs for other extended family members have long been sought by parents, relatives, and nurses in neonatal intensive care unit.

The purpose of this study is to describe the effect of having premature infants’ extended families participating in family-centered care (FCC) groups in the neonatal intensive care unit. An intervention based on dialogue, including topics as own reactions, general knowledge about the premature infants, parenthood, and how the extended families can support the new families during hospitalization and after discharge.

The overall theme was: Accepting the individuality of the infant and providing the family with realistic expectations for the future. This theme emerged during the analysis of 4 categories: knowledge sharing, same basis for understanding, access to the immediate family, and competent supporting role. The interrelationship between the categories also emerged, surprisingly, during the analysis.

Extended family members should be recognized as an essential part of the new family’s life from the time of the premature infant’s admission to neonatal intensive care unit. Family-centered care group interventions should be integrated into ward practice and policy.

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NICU Nurses and Lactation-Based Support and Care

The purpose of this study was to describe how NICU bedside nurses are providing lactation-based support and care during their shifts and the frequency of that support. The secondary aim was to gain an understanding of the NICU nurses’ attitudes toward human milk and breastfeeding.

 Through a prospective descriptive cohort design, the authors of this study created and disseminated a web-based survey (SurveyMonkey) of 21 questions including the Iowa Infant Feeding Attitude Scale (IIFAS) to a Northeastern urban hospital staff of bedside nurses.

A total of 140 of the 389 eligible NICU bedside nurses responded to the survey. Between 50.7% and 72.9% of nurses reported to providing lactation-based support and care during the previous shift worked and during the previous week worked, respectively. The participants’ responses to the IIFAS resulted in an overall score of 69.1, indicating an attitude of “positive to breastfeeding.”

Implications for Practice: The study demonstrates that the majority provide lactation-based support and care on every shift and hold very positive attitudes toward the provision of human milk and breastfeeding. Hospitals should be encouraged to promote educational and training programs in their respective institutions.

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