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Objective: The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. Mutations in the genes encoding the amiloride-sensitive epithelial sodium channel, ENaC, account for genetic causes of systemic PHA1. We describe systemic PHA1 due to 4 novel variants detected in SCNN1A and SCNN1B in 3 cases from 3 unrelated consanguineous families. Patients and Methods: We evaluated the clinical presentations, biochemical and hormonal characteristics, and molecular genetic analysis results of 3 patients from 3 unrelated consanguineous families and parents from whom samples were available. Results: The ages at presentation were postnatal days 9, 10, and 5. The main presentation symptoms were vomiting, poor feeding, weakness, weight loss, and skin rash. All patients exhibited laboratory characteristics including severe hyponatremia, hyperkalemia, metabolic acidosis, elevated plasma renin, elevated aldosterone, and positive sweat tests, suggesting a diagnosis of systemic PHA1. Molecular genetic analysis revealed 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1Bin case 1, a novel homozygous pathogenic variant [p.His69Arg(c.206A>G] in SCNN1Ain case 2, and a homozygous one-base duplication, p.A200Gfs*6 (c.598dupG), in SCNN1A in case 3. Conclusion: PHA1 should be considered at differential diagnosis in patients presenting with hyponatremia, hyperkalemia, and metabolic acidosis. The cases in this report involving 4 novel variants will add valuable insights into the phenotype-genotype relationship and will expand the mutation database.

Beken, Serdar/0000-0002-8609-2684; BAS, AHMET YAGMUR/0000-0002-1329-2167; Bulbul, Ali/0000-0002-3510-3056; Karatekin, Guner/0000-0001-7112-0323, WOS: 000534242500056, PubMed: 31851725, Objective To investigate the early neonatal outcomes of very-low-birth-weight (VLBW) infants discharged home from neonatal intensive care units (NICUs) in Turkey. Material and methods A prospective cohort study was performed between April 1, 2016 and April 30, 2017. the study included VLBW infants admitted to level III NICUs. Perinatal and neonatal data of all infants born with a birth weight of.1500 g were collected for infants who survived. Results Data from 69 NICUs were obtained. the mean birth weight and gestational age were 1137 +/- 245 g and 29 +/- 2.4 weeks, respectively. During the study period, 78% of VLBW infants survived to discharge and 48% of survived infants had no major neonatal morbidity. VLBW infants who survived were evaluated in terms of major morbidities: bronchopulmonary dysplasia was detected in 23.7% of infants, necrotizing enterocolitis in 9.1%, blood culture proven late-onset sepsis (LOS) in 21.1%, blood culture negative LOS in 21.3%, severe intraventricular hemorrhage in 5.4% and severe retinopathy of prematurity in 11.1%. Hemodynamically significant patent ductus arteriosus was diagnosed in 24.8% of infants. Antenatal steroids were administered to 42.9% of mothers. Conclusion the present investigation is the first multicenter study to include epidemiological information on VLBW infants in Turkey. Morbidity rate in VLBW infants is a serious concern and higher than those in developed countries. Implementation of oxygen therapy with appropriate monitoring, better antenatal and neonatal care and control of sepsis may reduce the prevalence of neonatal morbidities. Therefore, monitoring standards of neonatal care and implementing quality improvement projects across the country are essential for improving neonatal outcomes in Turkish NICUs., Turkish Neonatal Society [2-2016]; Turkish Neonatal Society, This study was supported by the Turkish Neonatal Society, http://www.neonatology.org.tr, number 2-2016, received by AYB. Turkish Neonatal Society funded the study's online registry system. the funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. Mutations in the genes encoding the amiloride-sensitive epithelial sodium channel, ENaC, account for genetic causes of systemic PHA1. We describe systemic PHA1 due to 4 novel variants detected in SCNN1A and SCNN1B in 3 cases from 3 unrelated consanguineous families.We evaluated the clinical presentations, biochemical and hormonal characteristics, and molecular genetic analysis results of 3 patients from 3 unrelated consanguineous families and parents from whom samples were available.The ages at presentation were postnatal days 9, 10, and 5. The main presentation symptoms were vomiting, poor feeding, weakness, weight loss, and skin rash. All patients exhibited laboratory characteristics including severe hyponatremia, hyperkalemia, metabolic acidosis, elevated plasma renin, elevated aldosterone, and positive sweat tests, suggesting a diagnosis of systemic PHA1. Molecular genetic analysis revealed 2 novel pathogenic variants [c.87CA(p.Tyr29*)/IVS9 + 1GA (c.1346 + 1GA)] in SCNN1Bin case 1, a novel homozygous pathogenic variant [p.His69Arg(c.206AG] in SCNN1Ain case 2, and a homozygous one-base duplication, p.A200Gfs*6 (c.598dupG), in SCNN1A in case 3.PHA1 should be considered at differential diagnosis in patients presenting with hyponatremia, hyperkalemia, and metabolic acidosis. The cases in this report involving 4 novel variants will add valuable insights into the phenotype-genotype relationship and will expand the mutation database.

Objectives: The aim of this study was to investigate characteristics of neonates hospitalized to Neonatal Unit due to indirect hyperbilirubinemia and to determine risk factors for indirect hyperbilirubinemia. Materials and methods: Totally 222 newborns, aged ≥35 weeks of gestational age and hospitalized in neonatal unit with indirect hyperbilirubinemia, were investigated. Physical examination and laboratory studies of children were performed. Decision of phototherapy and exchange transfusion was done according to total serum bilirubin (TSB) level that notified in the Guidelines of American Academy of Pediatrics. Results: Study group consisted of 131 (60%) male and 91 (30%) female newborns. No significant difference was found in TSB values between male and female neonates. There was 71.2% term and 19.8% late preterm newborn babies. Babies born with spontaneous vaginal delivery had borderline higher TSB values compared with cesarean section deliveries (p=0.051). ABO blood group incompatibility was found in 30.1% and Rh incompatibility in 6.7%. Insufficient nutrition and inadequate caloric intake were found in 49 (22.7%) of neonates, urinary tract infection in 19 (8.5%), hypernatremic dehydration in 9 (4.5%) and hypothyroidism in 4 (2.0%). Exchange transfusion was performed in 10 newborns and kernicterus occurred in two. A significant negative correlation was found between TSB values at hospitalization and baby\'s birth (p, Amaç: Bu çalışmanın amacı, indirekt hiperbilirübinemi nedeni ile Yenidoğan Ünitesi\'ne yatırılan olguların özelliklerini ortaya koymayı ve indirekt hiperbilirübinemi açısından risk faktörlerini belirlemektir. Gereç ve yöntem: Bu çalışmada Yenidoğan Ünitesinde, yatırılarak tedavi edilen gebelik yaşı 35 hafta ve üzerinde olan 222 indirekt hiperbilirubinemili yenidoğan incelendi. Hastaların fizik muayeneleri ve laboratuvar çalışmaları yapıldı. Fototerapi ve kan değişimi kararı Amerikan Pediatri Akademisi\'nin önerilerinde bildirilen total serum bilirübin (TSB) değerlerine göre verildi. Bulgular: Çalışma grubundaki olguların 131\'i (%59) erkek, 91\'i (%41) kız idi. Kız ve erkek bebekler arasında TSB değerleri açısından aralarında anlamlı fark bulunmadı (p>0.05). Olgularımızın %71.2\'sini term bebekler, %19.8\'ini 35-37 gebelik haftasındaki geç preterm bebekler oluşturuyordu. Spontan vajinal yolla doğan olguların yatış TSB değerleri, sezaryen ile doğan olgulara göre sınırda yüksek bulundu. (p=0.051). Olguların %30.1\'inde ABO kan grubu uygunsuzluğu, %6.7\'sinde Rh grup uygunsuzluğu saptandı. Hastaların 49\'unda (%22.7) yetersiz beslenme ve yetersiz kalori alımı, 19 (%8.5)\'unda üriner sistem enfeksiyonu, 9 (%4.05)\'unda hipernatremik dehidratasyon, saptandı. On (%4.5) hastaya kan değişimi uygulandı ve iki olguda kernikterus gelişti. Sarılıklı bebeklerin doğum tartıları ile yatış TSB düzeyi arasında negatif korelasyon (p

A 5-year-old previously healthy boy presented with typical findings of Guillain-Barré syndrome and unilateral tonic pupil. He was placed on mechanical ventilation for 35 days for respiratory failure. Plasmapheresis and two courses of intravenous immunoglobulin therapy were given to the patient, and he experienced stepwise recovery from his illness. This case of acute motor axonal neuropathy type Guillain-Barré syndrome is novel in that the cause was established as ingestion of a toxic solanaceous plant, angel's trumpet (Brugmansia suaveolens; syn. Datura suaveolens). Understanding the signs and symptoms of angel's trumpet toxicity can allow for early diagnosis and proper case management.