Objectives: The objective of this study was to evaluate the diagnostic accuracy of JM-103 transcutaneous bilirubinmeter (TcB) in preterm infants during phototherapy (PT) and in post-PT phase. Methods: This was a prospective cohort study. Infants born between 28 and 35 weeks of gestation and at <28 days of postnatal age were eligible if they required bilirubin estimation during the NICU stay. TcB was measured within 30 minutes of the blood sampling for serum bilirubin, at forehead and sternum. Mean difference (±standard deviation [SD]) and 95% limits of agreement between TcB and total serum bilirubin (TSB) were calculated by analyzing Bland–Altman difference plots. We also calculated correlation coefficients. Results: Ninety infants were enrolled. During PT, the difference plots revealed a wide TcB-TSB disagreement; 95% agreement limits of data indicated that TcB could underestimate bilirubin levels by up to 132 μmol/L at forehead and 157 μmol/L at sternum (Mean difference ± SD of −52.4 mmol/L ± 40.7 at forehead and −69.2 mmol/L ± 42.5 at sternum) and a poor TcB-TSB correlation (r = 0.72 at forehead and 0.51 at sternum). In post-PT phase, correlation coefficients improved significantly and were equivalent to the estimates before the onset of PT (r = 0.88 at forehead and 0.87 at sternum). The analyses of difference plots revealed that TcB could underestimate bilirubin levels up to 88 μmol/L in this phase (Mean difference ± SD of −28.8 mmol/L ± 30.5 at forehead and −19.6 mmol/L ± 34.7 at sternum). Conclusions: JM-103 device is unreliable for estimating bilirubin during PT. However, TcB-TSB agreement improved substantially in the post-PT phase such that use of the TcB device could lead to a reduction in blood sampling during this phase.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

We describe a 3-month-old female child born to third degree consanguineous Indian parents with progressive epileptic encephalopathy (EE), microcephaly, and generalized hypertonia. Whole exome sequencing revealed homozygous variant in the BRCA1-associated ataxia telangiectasia mutated activation-1 (BRAT1) gene. Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). BRAT1 acts as a regulator of cellular proliferation and migration and is required for mitochondrial function. This case highlights the potential of next generation technologies for the diagnosis of rare genetic diseases, including EE of infancy. To our knowledge, this is the first case of BRAT1 mutation from Indian subcontinent.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Objective: Neonatal jaundice is a common condition requiring evaluation and treatment for most newborns. However, kernicterus is just a “tip of the iceberg” of bilirubin-induced neurologic dysfunction. The objective of this study is to evaluate the use of a transcutaneous bilirubinometer for the detection of hyperbilirubinemia in newborns. Design and Setting: In this prospective study, we measured Transcutaneous bilirubin (TcB) concentration in clinically icteric term and late preterm babies. Total serum bilirubin (TSB) was measured if the initial TcB level was higher than the 50^th centile in Bhutani's nomogram. Paired TcB and TSB results were correlated, and the mean difference was calculated. Patients: Neonates of gestational age more than 35 weeks and weighing more than 2 kg were included in this study. TcB recordings were taken in neonates who appeared clinically icteric. Results: Four hundred paired TcB and TSB measurements were taken. TcB was significantly correlating with TSB (P < 0.001) in both low-risk and medium-risk thresholds for phototherapy. TcB had a sensitivity and negative predictive value of 100% each, a specificity of 56%, and a positive predictive value of 23%. For high-risk cases, using the 75^th centile as cutoff, the sensitivity and negative predictive value were reduced to 88% and 97.0%, respectively. Conclusion: TcB correlates closely with TSB concentration in neonates born after 35 weeks gestation. The rate of rise in TcB may help in identification of neonates at risk and minimizing invasive blood investigations.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Chylothorax is a very rare cause of respiratory distress in the neonates, defined as a collection of chyle in the pleural space. Causes of chylothorax in neonates are congenital lymphatic malformations, associated syndrome or birth trauma. Here, we are presenting a neonate presented with severe respiratory distress require intubation and ventilator support and on evaluation no cause of chylothorax found. Baby managed with intercostal drainage and octreotide, improved and asymptomatic in 8 months of follow-up.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Noninvasive ventilation (NIV) refers to the delivery of ventilatory support through nasal prongs/mask. NIV, associated with nasal continuous positive airway pressure, representing the main method to improve the functional residual capacity in the newborn (at term or preterm) avoiding invasive actions such as tracheal intubation.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Scrotal swelling in a neonate is rarely caused by testicular torsion, but it is an important differential diagnosis as acute treatment can prevent loss of fertility. The clinical findings differ, depending on whether the torsion has occurred in utero (prenatal) or after birth (postnatal). Postnatal testicular torsion presents with pain, redness, and swelling of the affected testis and requires acute surgical intervention to restore the blood flow and prevent ischemic necrosis. Contrary, prenatal testicular torsion will present with a hard, discolored untender mass that has already atrophied. It is important to quickly distinguish between prenatal versus postnatal cases to enable timely surgery of postnatal torsion, whereas the treatment of prenatal torsion is less urgent. A thorough clinical examination and ultrasonography with Doppler to detect blood flow or the lack of flow are the cornerstones in establishing an early diagnosis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Cellulitis-adenitis syndrome is rarely diagnosed in the neonatal period and generally associated with group B streptococci infection. We present the first report of cellulitis-adenitis syndrome of the axilla due to Klebsiella oxytoca in a premature infant. Therefore, empiric antibiotic treatment for cellulitis-adenitis syndrome in the neonatal period should include antibiotics that act against both Gram-positive and Gram-negative bacteria.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Group B streptococcus (GBS) or Streptococcus agalactiae is a cause of considerable neonatal morbidity and mortality. Intrapartum antibiotic prophylaxis for mothers colonized with GBS has markedly reduced the rates of early-onset neonatal GBS bacteremia. Recurrent late-onset GBS bacteremia is a rare occurrence. Mucosal colonization and breast milk contamination have been implicated as causes of the recurrence. We report a case of recurrent late-onset neonatal GBS bacteremia from the United Arab Emirates, in a term baby whose mother was GBS negative on antenatal screens, with breast milk culture positivity for GBS. To our knowledge, this is the first report from the Middle East region.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Background: Neonatal sepsis is one of the major causes of morbidity and mortality in the newborn, more so in the developing countries. The incidence of neonatal sepsis has been reported to be 30/1000 live births according to National Neonatal Perinatal Database. Objectives: To analyze the diagnostic utility of hematological scoring system (HSS) and its correlation with C-reactive protein and blood culture in neonatal sepsis. Materials and Methods: This prospective study included 150 neonates admitted to Neonatal Intensive Care Unit with clinical suspicion of neonatal sepsis from November 2012 to April 2014, considering the inclusion and exclusion criteria. Results: HSS had the highest sensitivity (93.7%) and identified >90% of neonates with clinical suspicion of sepsis. Furthermore, total leukocyte count showed high specificity but least sensitivity, immature to total ratio and immature to mature ratio showed high specificity and high sensitivity, and platelet count showed high negative predictive value and least positive predictive value. Conclusion: HSS is a simple, easy, cheap, and rapid adjunct for the diagnosis of clinically suspected cases of neonatal sepsis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Introduction: Neonatal jaundice constitutes 20% of admissions, and kernicterus is seen in 8% of cases while mortality rate of 6% has recorded across centers in Nigeria. There are various modalities for the management of neonatal hyperbilirubinemia including exchange blood transfusion (EBT). This study seeks to determine blood glucose and vital signs changes associated with EBT. Materials and Methods: The study was cross-sectional; carried out at the Special Care Baby Unit of Aminu Kano Teaching Hospital, Kano. Neonates requiring EBT from unconjugated hyperbilirubinemia were recruited. Results: There were 20 neonates enrolled, 18 (90%) males and 2 (10%) females with male to female ratio of 9:1. The turnaround time ranged from 3 to 31 h with mean value of 10.4 ± 7.9 h; however, most of the neonates (60%) had EBT more than 5 h after presentation. The mean temperature before EBT was 36.9°C ± 0.4°C; while after EBT, it was 36.2°C ± 0.5°C, and no case of hypothermia was documented. The mean respiratory rate before EBT was 46.3 ± 5.2 cycles/min; while after EBT, it was 51.9 ± 9.1 cycles/min; with no record of apnea. Mean heart rate was 143.8 ± 7.1 beats/min before the procedure and was 145 ± 15 beats/min after EBT. The mean serum glucose concentration before EBT was 4.5 ± 2.7 mmol/L, while it was 4.9 ± 2.2 mmol/L after EBT. Conclusion: Our study documented higher respiratory and heart rates post procedure with no record of apnea; furthermore, the serum sugar remained normal post-EBT.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Introduction: Lumbar puncture (LP) remains an important diagnostic investigation in the septic workup of ill newborns. There is rising concern in its use in all critically ill newborns due to its invasive nature as well as the risk of complications; however, examining the cerebrospinal fluid remains the cornerstone to establishing the diagnosis of meningitis. Methodology: The study design was cross-sectional, and a convenient sampling method was adopted. Thirty-one ill newborns admitted consecutively into the special care baby unit of our institution with diagnosis of sepsis and/or meningitis were recruited from July 2015 to December 2015. Results: There were 11 (35.5%) males and 20 (64.5%) females with male to female of 1:1.8. The mean oxygen saturation (SpO₂) 5 min before positioning for LP was normal at 95.1% ± 4.6% however this reduced to 90.9% ± 4.1%, but this progressively improved with the mean value 5 min after repositioning to supine been normal at 96.2% ± 3.0%. The mean SpO₂was generally lower in those with LP lasting more than 5 min but it was lowest during the phase of needle insertion (89.8% ± 4.3%). Comparing the SpO₂during various phases of LP showed that the extent of desaturation was greatest during the stage of spinal needle insertion, and this was statistically significant with Student's t-test (paired) value = 4.649, df = 30 and P = 0.001. Conclusion: LP in the newborn may be associated with significant hypoxia especially in those with prolonged duration of the procedure; therefore routine oxygen monitoring using the pulse oximeter is advised.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. Here, we present an infant with failure to thrive, exocrine pancreatic deficiency, developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, and hypothyroidism. Molecular studies revealed a novel homozygous nonsense mutation in exon exon 22 of the ubiquitin protein ligase E3 component N-recognin 1 gene, which confirmed the diagnosis of JBS. In conclusion, it was reported that mutations were mostly family-specific and the same mutation was rarely present in another family. Autosomal recessive diseases are more common in Turkey than in other European countries due to the high frequency of consanguineous marriage. Investigations revealed deafness and congenital hypothyroidism.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Iatrogenic lung collapse due to complete main stem bronchus obstruction caused by recurrent intubations and repetitive tracheal toileting has been rarely reported in literature. The early diagnosis and proper management are imperative to avoid mortality. A 1-month-old male child, weighing 3 kg, developed a complete right main bronchus obstruction caused by granulation tissue, after multiple intubations and prolonged pediatric Intensive Care Unit ICU care, leading to a complete right lung collapse. Removal of the granulation tissue was complete and successful using rigid bronchoscopy and forceps. Careful atraumatic intubation should be attempted in all patients with extra care in the neonatal age group. An experienced doctor or experienced attentive pediatric ICU nurses should handle the bronchial suctioning of neonates to avoid trauma to the tracheal structures. A bronchial obstruction that may result in lung collapse should be suspected after traumatic or prolonged intubation with frequent airway suctioning, where the early diagnosis and proper management are imperative to avoid mortality.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Several cases of bowel perforation in patients with intestinal atresia have been reported in the literature. Gastroschisis is known to be associated with multiple intestinal perforations. We report the case of a preterm neonate with gastroschisis who presented with single large perforation in the ileum with no associated intestinal atresia.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Congenital chylothorax is an accumulation of chyle in the pleural space that may present in neonatal period with respiratory distress. A 35-week preterm who presented with massive congenital chylothorax complicated with hydrops fetalis. The neonate was treated successfully by total parenteral nutrition, octreotide, and pleurodesis with betadine. Pleurodesis with betadine seems to be effective in the treatment of congenital chylothorax.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Late-onset hypocalcemia is a commonly reported metabolic abnormality in neonates secondary to maternal hypovitaminosis D. Symptomatic early-onset hypocalcemia without risk factors in a neonate is uncommon. Severe maternal Vitamin D deficiency has only occasionally been reported in a case series from the Middle-East to cause early-onset hypocalcemia (<3 days) in neonates. We report an unusual case of early-onset hypocalcemia in a 10 hours neonate manifesting as bradycardia with prolonged QT interval secondary to maternal Vitamin D deficiency.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

A 15-day-old late preterm female baby weighing 2.6 kg was brought to the emergency room with hypoxic respiratory failure. Bedside echocardiography demonstrated reversal of flow in the descending aorta. Computed tomography angiography was performed and showed arteriovenous fistula between brachiocephalic artery and beginning of superior vena cava. Parents were counseled about the embolization of fistula. Parents refused to consent for the procedure and the baby was discharged against the medical advice.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Context: Early-onset sepsis remains an important clinical problem with significant antibiotic overtreatment as a result of poor specificity of clinical and infection parameters. Quantitative risk stratification models such as the early-onset neonatal sepsis (EOS) calculator are promising, but it is unclear how these models relate to infection parameters in the first 72 h of life. Aim: The aim of this study is to evaluate the hypothesis that higher EOS calculator results are associated with (serial) laboratory infection parameters, in particular an increase in C-reactive protein (CRP) within 24–48 h and low leukocyte counts. Subjects and Methods: EOS risk estimates were determined for infants born ≥34 weeks of gestation who were started on antibiotic treatment for suspected EOS within 72 h after birth. EOS risk estimates were retrospectively compared to (changes in) available laboratory infection parameters, including CRP, leukocyte, and thrombocyte count. Statistical Analysis Used: Spearman's rho rank correlations coefficient was used when testing for correlations between continuous parameters. Kruskal–Wallis and Mann–Whitney U-tests were applied to differences between stratified risk groups. Results: EOS risk was not correlated with changes in infection parameters. We found negative correlations between both EOS risk and CRP level and leukocyte count within 6 h of the start of antibiotics, as well as CRP level between 6 and 24 h after start of treatment. Conclusions: In contrast to our hypothesis, high EOS risk at birth was consistently correlated with lower CRP and leukocyte counts within 24 h after the start of antibiotics, but not with infection parameters after 24 h. Further interpretation of infection parameters during sepsis calculator use needs to be elucidated.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Hypoglycemia, being a common, potentially serious problem in neonatology, is screened in at-risk newborzns. However, there is little evidence regarding the screening of hypoglycemic relapse after treatment by glucose infusion. Objectives: We aimed to determine whether measuring blood glucose levels 3, 6, and 9 h after weaning from glucose infusion is appropriate to detect hypoglycemic relapse. Methods: This is a single-center retrospective study (2005–2014) measuring the proportion of infants who experienced hypoglycemic relapse (glucose level <2.5 mmol/L) after withdrawal of glucose infusion as well as the “time to relapse” in a population of 129 consecutive patients treated with glucose infusion for severe or prolonged neonatal hypoglycemia. Results: No newborn (0%, 95% confidence interval [CI]: 0%–2.9%) had hypoglycemic relapse within the first 3 h after weaning from glucose infusion. Five infants (3.9%, 95% CI: 1.7%–8.8%) and three infants (2.3%, 95% CI: 0.8%–6.6%) had hypoglycemic relapse, respectively, 6 and 9 h after weaning. All relapses were of mild severity (blood glucose level: 2.0–2.5 mmol/L). Lower birth weight (BW) (P = 0.008) and small for gestational age (SGA) (P = 0.003) were associated with the increased risk of hypoglycemic relapse. Conclusions: In a population of term newborns presenting with hypoglycemia requiring glucose infusion, only a small proportion presented with mild hypoglycemia relapse after weaning from infusion, lower BW and SGA were the main risk factors. Future research should assess whether it is sufficient to control only at-risk infants for relapse after a progressive weaning from infusion.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]