Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis. Conclusions We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months.

Does ibuprofen treatment in patent ductus arteriosus alter oxygen free radicals in premature infants?

Introduction Ibuprofen is used widely to close patent ductus arteriosus in preterm infants. The anti-inflammatory activity of ibuprofen may also be partly due to its ability to scavenge reactive oxygen species and reactive nitrogen species. We evaluated the interaction between oxidative status and the medical treatment of patent ductus arteriosus with two forms of ibuprofen. Materials and methods This study enrolled newborns of gestational age ⩽32 weeks, birth weight ⩽1500 g, and postnatal age 48-96 hours, who received either intravenous or oral ibuprofen to treat patent ductus arteriosus. Venous blood was sampled before ibuprofen treatment from each patient to determine antioxidant and oxidant concentrations. Secondary samples were collected 24 hours after the end of the treatment. Total oxidant status and total antioxidant capacity were measured using Erel's method. RESULTS: This prospective randomised study enrolled 102 preterm infants with patent ductus arteriosus. The patent ductus arteriosus closure rate was significantly higher in the oral ibuprofen group (84.6 versus 62%) after the first course of treatment (p=0.011). No significant difference was found between the pre- and post-treatment total oxidant status and total antioxidant capacity in the groups. Discussion Ibuprofen treatment does not change the total oxidant status or total antioxidant capacity. We believe that the effect of ibuprofen treatment in inducing ischaemia overcomes the scavenging effect of ibuprofen.

Low serum sclerostin levels in newborns with vitamin D deficiency.

BACKGROUND: Sclerostin is a glycoprotein produced by osteocytes that is being evaluated as a potential clinical marker of bone turnover. The aim of this study was to investigate the association between neonatal vitamin D status and levels of circulating sclerostin. METHODS: Forty newborns were recruited for the study. Vitamin D deficiency was defined as a serum 25-hydroxyvitamin D3 [25(OH)D] concentration <20 ng/mL and the newborns were divided into two groups as vitamin D deficient and vitamin D sufficient groups. Calcium, phosphate, alkaline phosphatase and sclerostin were measured at birth. RESULTS: Newborns with vitamin D deficiency had markedly lower 25(OH)D levels than vitamin D sufficient newborns (8.5±4.4 ng/mL vs. 35.3±10.6 ng/mL, p<0.001). Vitamin D deficient infants also had significantly lower serum sclerostin levels (188.4±21.9 vs. 282.3±30.4 pg/mL; p: 0.026) than vitamin D sufficient newborns at birth. However, we did not detect a significant linear association between neonatal sclerostin and maternal/neonatal 25(OH)D levels. CONCLUSIONS: Our data also demonstrated that vitamin D deficient newborns exhibited lower sclerostin levels than vitamin D sufficient newborns. The low sclerostin level might serve as a marker of decreased osteocyte activity in newborns with vitamin D deficiency.

Serum Sclerostin Levels in Newborns Born to Mothers With Vitamin D Deficiency.

AIM: Sclerostin inhibits osteoblast functions, differentiations, and survival rates. The aim of this study was to investigate the association between circulating sclerostin (an emerging biomarker and important regulator of bone formation) and neonatal parameters in mothers with vitamin D deficiency. METHOD: Forty-five mothers and their newborns were recruited in the study. The mothers were divided into 2 groups as vitamin D-deficient group 25(OH)D (25-hydroxyvitamin D3 < 20 ng/mL) and vitamin D-sufficient group 25(OH)D (>20 ng/mL). Their newborns had measurements of weight, height, calcium, phosphate, alkaline phosphatase, sclerostin, and 25(OH)D at birth. RESULTS: The mothers with vitamin D deficiency had significantly lower vitamin D levels than the mothers with vitamin D sufficiency (8.7 [3.4] ng/mL vs 26.7 [4.0] ng/mL, P < 0.001). There were no significant differences between women with vitamin D deficiency and women with vitamin D sufficiency for sclerostin concentrations (205.4 [64.8] pg/mL vs 291.6 [122.9] pg/mL). However, 25(OH)D (10.1 [8.1] ng/mL vs 33.4 [11.6] ng/mL, P < 0.001) and sclerostin concentrations (182.9 [15.3] pg/mL vs 288.8 [32.3] pg/mL, P = 0.01) were lower in newborns born by mothers with vitamin D deficiency compared and with newborns of mothers with vitamin D sufficiency. Circulating sclerostin measurements were not associated with 25(OH)D levels of both mothers and their newborns. CONCLUSIONS: We found significantly lower sclerostin levels in newborns born by women with vitamin D deficiency compared with newborns of nondeficient mothers.

Social anxiety, depression and self-esteem in obese adolescent girls with acanthosis nigricans.

OBJECTIVE: To assess the impact of acanthosis nigricans (AN) on depression symptoms, related quality of life and self-esteem scores in obese adolescent girls. METHODS: Fifty-nine obese adolescent girls (mean age: 13.19±1.3 years, age range: 12-17 years, mean body mass index: 29.89±3.30) were enrolled in this study. The obese adolescent girls were divided into two groups based on presence or absence of AN. Non-obese healthy adolescents constituted the control group (30 girls, mean age: 13.5±1.4 years). All subjects were evaluated using the Children's Depression Inventory (CDI), the State-Trait Anxiety Inventory for Children (STAI-C), and the modified Rosenberg Self-Esteem Scale (SES). Higher scores indicated more severe depression and anxiety, as well as low self-esteem status. RESULTS: The AN and non-AN obese groups showed significantly higher CDI, STAI-C and SES scores than the control group, and the two obese groups demonstrated no significant differences for these scores. The AN obese group with higher total testosterone levels (>50 ng/dL) had higher scores for SES (2.55±1.8 vs. 1.42±1.2; p=0.03) than the AN obese group with low total testosterone levels. SES scores significantly correlated with total testosterone levels (r=0.362; p=0.03) and fasting insulin (r=0.462; p=0.03) in the AN obese group. CONCLUSION: Higher SES scores (low self-esteem status) were determined in obese adolescents with acanthosis and were related to hyperandrogenism. This study also showed that a high testosterone level may be one of the important indicators of low self-esteem status in obese girls with AN.

Probiotics for the prevention of pediatric upper respiratory tract infections: a systematic review.

BACKGROUND: Acute upper respiratory tract infections (URTIs) contribute substantially to pediatric morbidity and mortality worldwide. Prevention of these infections in childhood is a very important public health challenge. Previous systematic reviews, including both adult and childhood populations, have reported that probiotics seem promising, but with modest evidence. This study aimed to focus on prophylactic probiotic use in the prevention of URTIs in childhood. METHODS: Relevant trials on two databases were identified in a systematic review, from inception to June 2014. Study selection, data extraction and quality assessment were carried out by two reviewers. In this review, the effects of probiotics, particularly the Lactobacillus and Bifidobacterium strains, on the incidence and symptom scores of URTI in otherwise healthy children were evaluated for the first time. This review comprises 14 randomized controlled trials (RCTs) applied to a pediatric population with high-quality methodology. RESULTS: This systematic review suggests that probiotics in immunocompetent children have a modest effect both in diminishing the incidence of URTIs and the severity of the infection symptoms. CONCLUSIONS: At least one beneficial effect of prophylactic probiotic was observed in the majority of RCTs. Even a minimal reduction of 5 - 10% in the incidence of URTIs would have an important clinical and economic mpact on societies. Furthermore, the long-term administration of probiotics appeared to have a good safety profile in childhood and none of the studies reported any serious adverse events related to the probiotic strain.

Unilateral Renal Vein Thrombosis and Adrenal Hemorrhage in A Newborn with Homozygous Factor V Leiden and Heterozygous Of MTHFR-677T, MTHFR-1298C Gene Mutations.

Renal vein thrombosis (RVT) occurs as an acute and life-threatening event in neonates. RVT is the most common non-catheter-related thrombosis in infancy and occurs primarily in the newborn period. Non-catheter-related abdominal thrombosis on neonates has a higher incidence of genetic prothrombotic risk factors. RVT and adrenal hemorrhage can both be encountered in the neonatal period and they may occur at the same time (Bokenkamp et al., Eur J Pediatr 159:44-8, 2000; Lau et al. Pediatrics 120:1278-84, 2007). We report a case of unilateral RVT and adrenal hemorrhage in a newborn with homozygous factor V Leiden mutation and heterozygous of the methylene tetrahydrofolate reductase (MTHFR) gene mutations.

Acquired Bartter-like syndrome association with netilmicin therapy in an extremely low birth weight infant.

Aminoglycosides are commonly used antibiotics with excellent renal parenchymal penetration. Their clinical effectiveness is counter balanced with the risk of renal toxicity, which develops in a dose-dependent fashion. Aminoglycoside-induced renal tubular dysfunction could result in diffuse damage or manifest as a Fanconi-like syndrome, Bartter-like syndrome (BLS), or distal renal tubular acidosis.(1-4) Although tubulopathy associated with amikacin and gentamicin was reported in adults and rarely children, to the best of our knowledge, netilmicin-associated BLS neither in adults nor in children has been reported in the literature. We here report a 30-week, 770 g male preterm infant who developed BLS just after netilmicin treatment for neonatal sepsis and recovered 6 weeks after the drug cessation.

Assessment of red blood cell transfusion and transfusion duration on cerebral and mesenteric oxygenation using near-infrared spectroscopy in preterm infants with symptomatic anemia.

BACKGROUND: The aim of red blood cell (RBC) transfusion is to improve tissue oxygenation and relieve anemia-related symptoms in preterm infants. We sought to assess regional cerebral (rSO2 C) and mesenteric (rSO2 M) tissue oxygenation using a near-infrared spectroscopy (NIRS) method and vital signs (heart rate, arterial oxygen saturation, mean arterial blood pressure) in symptomatic preterm infants with anemia who received RBC transfusions. STUDY DESIGN AND METHODS: Twenty-three symptomatic patients with anemia who were at least 1 month old, whose gestational age was less than 30 weeks, and whose hematocrit level was not more than 27% were involved in the transfusion group. The control group consisted of preterm infants (Hct ≥ 32) matched for gestational age and postnatal days. The transfusion group was divided into two subgroups based on transfusion duration (2 or 4 hr). Both study groups were monitored for vital signs and rSO2 C, rSO2 M, and mesenteric-cerebral oxygenation ratio (MCOR) via NIRS for 24 hours simultaneously and compared with the control group. NIRS variables and vital signs obtained before, during, and after transfusion were compared both within and between 2- and 4-hour groups. RESULTS: rSO2 C, rSO2 S, and MCOR increased during and after transfusions, while cerebral fractional oxygen extraction (FOEC) and mesenteric fractional oxygen extraction (FOEM) decreased. No significant difference was found between subgroups for NIRS measurements and vital signs. A weak correlation between hemoglobin concentration and FOEC and FOEM was found. CONCLUSION: RBC transfusion improved cerebral-mesenteric oxygenation and MCOR in symptomatic infants with anemia, independent of the transfusion duration.

Postnatal oral hydrocortisone in treatment of bronchopulmonary dysplasia: an observational study.

INTRODUCTION: The aim of our study was to determine whether hydrocortisone even at low dose could be an effective and safe alternative treatment for bronchopulmonary dysplasia. MATERIALS AND METHODS: This prospective pilot study was conducted in a tertiary referral neonatal intensive care unit placed in Ankara Zekai Tahir Burak Maternity Teaching Hospital. Preterm babies (> 32 week gestational age or > 1500 g birth weight) who were ventilator dependent approximately at or beyond three weeks of age (defined as rescue treatment) or were oxygen dependent on postmenstrual 36th week without evidence of any infection (defined as bronchopulmonary dysplasia treatment) were enrolled in the study. Hydrocortisone was used orally in an initial dose of 1 mg/kg twice a daily for a week and then the dose was tapered by 10-20% every other day regarding to clinical response. RESULTS: A total of 90 infants were enrolled in this study. After hydrocortisone treatment only 3 (3.4%) patients were still on respiratory support. When safety of the drug was evaluated 8 (8.8%) infants had early complications of hydrocortisone treatment. CONCLUSION: To the best of our knowledge this study is the first trial in the literature along with the hydrocortisone dose and the initiation time in treatment of bronchopulmonary displasia.

A neonate with subcutaneous fat necrosis after passive cooling: does polycythemia have an effect?

Subcutaneous fat necrosis (SCFN) is an inflammatory disorder of adipose tissue. The main risk factors for the development of SCFN are perinatal asphyxia and hypothermia. Presented here is a case of a newborn who developed SCFN in association with polycythemia and hypocalcemia following treatment by passive cooling. Neonates who undergo passive or whole body cooling therapy should be closely monitored for any signs of SCFN.

[Seroepidemiology of pertussis in 10-15 years old healthy children in Isparta province, Turkey]. / Isparta ilinde 10-15 yas grubu saglikli çocuklarda bogmaca seroepidemiyolojisi.

Pertussis, a highly contagious respiratory disease, commonly affects infants and young children and can be fatal, especially in babies less than one year of age. Bordetella pertussis continues to circulate even in populations where a high vaccine coverage of infants and children is achieved. Adults are reservoirs for infections in infants, in whom pertussis may be severe and life-threatening. Despite the rising rates of vaccination in our country and all over the world for the past 25 years, the number of pertussis cases among adolescents and adults has been increasing. To decrease the risk of pertussis infection and thus protect adults and adolescents against pertussis, booster doses should be administered to preschool children and adolescents. In order to decide when to administer the booster doses in a country, age-specific seropidemiology of the disease should be known. The aim of this study was to determine the pertussis toxin antibody levels of fully vaccinated healthy children in Isparta, Turkey, aged 10-15 years old. A total of 296 participants, that comprised fully vaccinated 254 healthy elementary-school students aged between 10-15 years (126 male, 128 female) and 42 adults between 18-39 years old (21 male, 21 female) were included in the study with informed consent. The sensitivities of subjects to pertussis were tested by the determination of pertussis toxin IgG levels with the use of commercial ELISA test (Genzyme Virotech, Germany). In our study, the seropositivity rate was found 12.6% (32/254) for 10-15 age group, however all the adult subjects were seronegative. Thus the total seropositivity rate was estimated as 10.8% (32/296). Pertussis toxin IgG seropositivity rate was 12.7% (16/126) for males and 12.5% (16/128) for females, and there was no significant gender difference (p> 0.05). The highest seropositivity rates were detected at 10(th) (23.8%) and 11(th) (19%) years in males, and 12(th) and 14(th) (23.8%) years in females. No seropositivity was detected in individuals over age 15 in our study. Since adults lose their immune protection gained by pertussis vaccination, they start becoming an infection source for infants. Therefore, a booster dose of acellular pertussis vaccine should be considered in preschool period and at ages 14-18. Further studies regarding diagnosis and surveillance of pertussis disease are required, as well as enhancement of vaccination rates.

Early diagnostic clues in neonatal chronic gastric volvulus.

PURPOSE: Neonatal gastric volvulus (GV) is a rare clinical entity with a challenging diagnosis. In this study, we aimed to identify clinical and radiological findings to aid in early diagnosis in neonatal GV. MATERIALS AND METHODS: The medical records of all neonates with GV were retrospectively reviewed. Diagnosis was made based on clinical findings and radiological images, and was documented by an upper gastrointestinal (UGI) contrast study. RESULTS: A total of eight neonates were included in the study. The most common clinical presentations were non-bilious vomiting and epigastric distention. The findings highly suggestive for GV in plain radiographs include gastric double bubble, abnormal gastric distention despite a nasogastric tube, distended stomach lying in a horizontal plane and an air-fluid level in the epigastrium. CONCLUSION: GV should be suspected in any newborn with non-bilious vomiting and epigastric distention. It is also important to focus on the clues in the plain radiographs. Gastric double bubble, abnormal gastric distention despite a nasogastric tube, distended stomach lying in a horizontal plane and an air-fluid level in the epigastrium must alert the physicians to the possibility of GV.

Assessment of oxidant/antioxidant system in newborns and their breast milks.

AIM: In this study, it is aimed to investigate total oxidant and antioxidant status of newborns and their breast milks. METHODS: Totally, 184 infants who were born in our hospital were included in the study. Study group was divided into two main study groups, including term and preterm groups; main study groups were also divided into two sub-groups, AGA and SGA. TOS and TAC levels were measured in cord blood of all newborns and in mother milks. Groups were statistically compared with each other in terms of TOS, TAC and OSI levels. RESULTS: The study included 92 preterm newborns (Group I) and 92 term newborns (Group II). TOS, TAC and OSI levels were found significantly higher in Group I than Group II (p < 0.0001, p = 0.17, p < 0.0001, respectively). When sub-groups of Group I and Group II, namely TAGA, TSGA and PAGA and PSGA, were compared with each other. TOS and OSI levels were significantly higher and TAC levels were significantly lower in TSGA group relative to TAGA group (p < 0.0001; p = 0.001; p < 0.0001, respectively). No statistically significant difference was found between Group I and Group II and between sub-groups of Group I and II with regards the TOC, TAC and OSI levels of mother milk. CONCLUSION: In preterm newborns and term SGA infants, total oxidant stress is increased and antioxidant capacity is low. No significant difference was found between mother milks of preterm and term AGA and SGA infants.

Iliac osteomyelitis in a newborn: a case report.

Pelvis is a rare location of the hematogeneous osteomyelitis during the newborn period. Successful cure of osteomyelitis during the newborn period is dependent on a fast and true diagnosis and on sufficient treatment. In this case report, iliac osteomyelitis of a newborn that was clinically suspected on the fifth day, was diagnosed radiologically and was found to be caused by methicillin-sensitive Staphylococcus aureus, is presented. According to our knowledge, this is the youngest osteomyelitis case in the literature and the third presented iliac osteomyelitis case of the newborn period.

The admission rate in neonatal intensive care units of newborns born to adolescent mothers.

AIM: Although the effect of adolescent pregnancy on perinatal mortality and morbidity is known, data on the neonatal hospitalization rate in these deliveries have not been reported. We aimed to assess the possible effects of adolescent pregnancies on the hospital outcomes of the newborns. METHODS: Three hundred adolescent mothers under 17 years of age and their singleton newborns were enrolled in this retrospective study. The major outcomes of the study were the rates of prematurity and intrauterine growth retardation, and the admission rate of newborns to the neonatal intensive care unit. RESULTS: Twenty-nine percent of the newborns were premature, and the intrauterine growth retardation rate was 1%. Forty-one newborns (13.6%), of whom 38 (92.6%) were preterm, were admitted to the neonatal intensive care unit. The admission rate of the study population was higher than the overall newborn neonatal intensive care unit admission rate for our hospital of 9.7% (p < 0.05). CONCLUSION: The rates of prematurity and neonatal intensive care unit admission were higher in adolescent mothers. This study is the first to demonstrate that the high NICU admission rate was related to premature deliveries in this group.