A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

Background: Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation: A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion: EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling.</p

The levels of postpartum depression, anxiety, and hopelessness of the mothers of infants receiving therapeutic hypothermia in NICU

The aim of this study was to evaluate anxiety, postpartum depression (PPD), and hopelessness in the mothers of newborns receiving therapeutic hypothermia for hypoxic ischemic encephalopathy (HIE) in NICU. A total of 104 mothers and infants were analyzed as a study group with HIE (n = 52) and a control groups of non-HIE (n = 52). All the mothers completed The State-Trait Anxiety, Beck Hopelessness and Edinburgh Postpartum Depression Scales (EPDS). The EPDS scores, the rate of PPD, state-trait anxiety and hopelessness levels were similar in the two groups. In the HIE group, chest compression and persistent pulmonary hypertension in infants were associated with maternal anxiety, hopelessness, and PPD. The absence of a statistical difference between the two groups in the current study does not mean that these differences do not exist. These results demonstrate the need for further detailed studies on this subject

Candidal Infections in the Neonatal Intensive Care Unit: A Retrospective Observational Study

Objectives: The aims of this study were to evaluate the demographic characteristics, risk factors, mortality rates, and laboratory findings of infants with fungal sepsis in the Neonatal Intensive Care Unit (NICU).Methods: This retrospective multicenter study included patients in NICU with Candida spp isolated in blood cultures between November 01, 2019, and September 01, 2022. The patients were evaluated in two groups as Group 1 infants with Candida albicans and Group 2 infants with Candida non-albicans positive blood cultures.Results: Candida infection was detected in blood cultures in 57 of 3450 patients admitted to the NICU. A total of 57 infants in-cluded in the study. Candida infection was determined 1.6% of infants in the study population, and 57% of them were extremely pre-term infants. There was no significant difference between the two groups in terms of laboratory data. Normal vaginal birth was determined at a higher rate in Group 1. In Group 2, length of hospital stay, duration of total parenteral nutrition (TPN), and mechanical ventilation (MV) were determined to be longer. The mortality due to Candida fungemia was determined as 35%, and of these patients, 65% had an additional medical condition.Conclusion: In accordance with the literature, this study showed that prolonged MV and longer TPN increased the incidence of fungal sepsis. Therefore, to decrease the fungal sepsis rate of NICU, shortening the hospital stay and effective screening programs are recommended

Evaluation of conus medullaris level in newborn infants

Purpose: Previous studies have reported that the conus medullaris (CM) is located between T12 and L2 in most adults, but no significant ascent has been observed during childhood. There is evidence that the normal position of the CM in an adult is acquired at birth in the majority of cases. Studies have shown that there are differences in CM levels in neonates. This situation causes problems for interventional procedures in the neonatal period. The aim of this study is to determine CM levels in preterm/term neonates using ultrasound (US).Materials and Methods: Newborn infants (gestational age: 24-43 weeks) admitted to the neonatal intensive care unit between March 2020 and June 2021 were evaluated for CM levels by the postnatal US. Infants with central nervous system abnormalities, dysmorphic features, somatic or various genetic diseases, or their parent's refusal to participate were excluded from the study.Results: Of the 189 neonates infants included in our study, 85 (44.6%) were female, 104 (55.4%) were male, 139 (73.54%) were preterm (24-36 weeks), and 50 (26.46%) were term (37-42 weeks) neonates. As a result of the US performed on the first day of 189 neonates, CM levels, 31 (16.4%) were L1, 31 (16.4%) were L1-2, and 71 (37.6%) were L2. There is a strong correlation between birth weight and birth week (r 0.84). There is a negative relationship between birth weight and CM level (r-0,20), gestational age, and CM level (r-0,23).Conclusion: Conus medullaris level was negatively correlated with gestational age and increased with advancing gestational age. In addition, the CM level shows a slower rise at 28-40 weeks of postmenstrual age and reaches the normal level (L1-L2) in the neonatal period, as in adults. Knowing the level of the CM in the newborn period will ensure that spinal procedures such as lumbar puncture to be applied to the spinal region can be performed safely

Splenic rupture presenting with marked scrotal ecchymosis in a 2-day-old newborn

Splenic rupture is a rare and severe condition in neonates. The signs and symptoms are vague and non-specific and are often not recognised before the onset of hypovolaemic shock or death. A 2-day-old infant presented with scrotal ecchymosis, and ultrasonography detected haemorrhage in the scrotal, right inguinal and adrenal regions. Computed tomography demonstrated a peri-splenic haematoma. Haemoglobin (Hb) was 2.79 g/dL and, despite repeated transfusions, the Hb level could not be sustained. Exploratory laparotomy detected a large haematoma in the splenic region, and, because of the uncontrolled haemorrhage, splenectomy was required

Risk of autism spectrum disorder in children with a history of hospitalization for neonatal jaundice

Background/aim: Limited research has focused explicitly on the association between neonatal jaundice and autism spectrum disorder (ASD), and inconclusive evidence exists in the literature within this framework. This study aimed specifically to investigate whether neonatal jaundice is a potential risk factor for ASD and whether there is a connection between the types of neonatal jaundice and the severity of ASD. Materials and method: This study involved 119 children with ASD [90 males (75.6%), 29 females (24.4%), mean age: 45.39 +/- 11.29 months] and 133 healthy controls [100 males (75.2%), 33 females (24.8%), mean age: 46.92 +/- 11.42 months]. Psychiatric disorders were diagnosed through the Diagnostic and Statistical Manual of Mental Disorders criteria. Childhood Autism Rating Scale (CARS) was used to assess the screening and diagnosis of autism. A specially prepared personal information sheet was employed to investigate sociodemographic characteristics and birth and clinical histories. Results: The rate of the history of jaundice and pathological jaundice requiring hospitalization and phototherapy were significantly higher in the ASD group compared to the controls. CARS total score and the mean scores of nearly all items were statistically higher in children with a history of pathological jaundice than those with a history of physiological jaundice. Conclusion: Neonatal jaundice, depends on its severity, seems to be one of the possible biological factors associated with subsequent development of and the severity of ASD. Establishing a causal relationship between neonatal jaundice and ASD by more comprehensive studies may contribute to alleviating of the severity of ASD for individuals at risk

Oxidative Stress Levels and Dynamic Thiol-Disulfide Balance in Preterm Newborns with Bronchopulmonary Dysplasia

AbstractObjectiveThe aim of this study was to assess the oxidative stress (OS) levels and dynamic thiol-disulfide balance in preterm newborns with bronchopulmonary dysplasia (BPD).MethodsThis prospective study included newborns separated into 2 groups, those with BPD (case) or without BPD (control). The 2 groups were compared by clinical and laboratory findings. The OS parameters total oxidant status (TOS), total antioxidant status (TAS), OS index (OSI), native thiol (NT), and total thiol were measured within the first day after birth. Oxygen requirements were measured using the fraction of inspired oxygen (FIO2) recorded in the first hour after birth/admission and the average FIO2 within 28 days of the birth.ResultsInfants diagnosed with BPD had a significantly lower gestational age and birth weight and a lower 5-min Apgar score (P &amp;lt; .05). Infants with BPD also had a higher rate of respiratory distress syndrome, rate of use of surfactant therapy, duration of ventilation therapy, and duration of hospital stay compared with control (P = .001, P = .001, P = .001, and P = .001, respectively). Plasma TAS and NT levels of newborns with BPD were significantly lower than newborns without BPD (P &amp;lt; .05). In the BPD group, plasma TOS and OSI levels were significantly higher than in the control group.ConclusionWe found that OS was increased in newborns with BPD. The clinical significance of this study will provide the clinician with a different perspective on BPD by determining the dynamic thiol disulfide balance.</jats:sec

Oxidative Stress Levels and Dynamic Thiol-Disulfide Balance in Preterm Newborns with Bronchopulmonary Dysplasia

Objective The aim of this study was to assess the oxidative stress (OS) levels and dynamic thiol-disulfide balance in preterm newborns with bronchopulmonary dysplasia (BPD). Methods This prospective study included newborns separated into 2 groups, those with BPD (case) or without BPD (control). The 2 groups were compared by clinical and laboratory findings. The OS parameters total oxidant status (TOS), total antioxidant status (TAS), OS index (OSI), native thiol (NT), and total thiol were measured within the first day after birth. Oxygen requirements were measured using the fraction of inspired oxygen (FIO2) recorded in the first hour after birth/admission and the average FIO2 within 28 days of the birth. Results Infants diagnosed with BPD had a significantly lower gestational age and birth weight and a lower 5-min Apgar score (P < .05). Infants with BPD also had a higher rate of respiratory distress syndrome, rate of use of surfactant therapy, duration of ventilation therapy, and duration of hospital stay compared with control (P = .001, P = .001, P = .001, and P = .001, respectively). Plasma TAS and NT levels of newborns with BPD were significantly lower than newborns without BPD (P < .05). In the BPD group, plasma TOS and OSI levels were significantly higher than in the control group. Conclusion We found that OS was increased in newborns with BPD. The clinical significance of this study will provide the clinician with a different perspective on BPD by determining the dynamic thiol disulfide balance

Association between thiol-disulfide hemostasis and transient tachypnea of the newborn in late-preterm and term infants

Abstract Background Transient tachypnea of the newborn (TTN), which is the most common respiratory disease in the neonatal period, increases respiratory workload in newborns. We purposed to evaluate the oxidative stress (OS) status and thiol disulfide hemostasis in late preterm and term newborns with TTN in this study. Methods The study was carried out in a single-centre neonatal intensive care unit to investigate the effect of continuous airway positive pressure (CPAP) on the oxidative system in newborns with TTN. Thiol (native and total) and disulfide levels, total antioxidant and oxidant status (TAS/TOS) and Oxidative stress index (OSI) levels were measured. Results Total thiol levels measured before treatment was 429.5 (369.5–487) µmol/L in the late preterm group and 425 (370–475) µmol/L in the term group (p = 0.741). We found significant changes in TOS, OSI and TAS levels after CPAP treatment in the late preterm group (p &lt; 0.001, p &lt; 0.001, p = 0.012 respectively). It was also found that the disulfide level, which was 26.2 (19.2–31.7) before the treatment, decreased to 19.5 (15.5–28.75) after the treatment (p = 0.001) in late preterms. Conclusion CPAP treatment reduced the OS status burden associated with TTN in neonates. The late preterm newborns with TTN are more affected by OS and increased OS levels decrease with CPAP treatment. </jats:sec