Minor dysmorphic features in a patient with papillorenal syndrome: A Case Report.

Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormalities. Mutations in the PAX2 gene, which plays a critical role in embryogenesis, cause this syndrome. Other related anomalies are less commonly observed. To our knowledge, this is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features.

A Newborn with Transient Diabetes Mellitus Accompanied by Ketoacidosis Attributable to a ZFP57 Mutation.

Hyperglycemia commencing within the first 6 months of life requires exogenous insulin therapy and, if the condition persists for >2 weeks, is termed neonatal diabetes mellitus (NDM). This rare illness is of two types: transient and permanent NDM. Most cases come to medical attention because of nonspecific symptoms, including intrauterine growth retardation, dehydration, difficulties in feeding and inadequate weight gain. In the present article, we describe an infant who smelt of ketones during examination and who was diagnosed with transient NDM caused by a ZFP57 mutation, accompanied by ketoacidosis. This is the first report of such a condition.

Perfusion index assessment during transition period of newborns: an observational study.

BACKGROUND: Perfusion index (PI) is becoming a part of clinical practice in neonatology to monitor peripheral perfusion noninvasively. Hemodynamic and respiratory changes occur in newborns during the transition period after birth in which peripheral perfusion may be affected. Tachypnea is a frequent symptom during this period. While some tachypneic newborns get well in less than 6 h and diagnosed as "delayed transition", others get admitted to intensive care unit which transient tachypnea of newborn (TTN) being the most common diagnosis among them. We aimed to compare PI of neonates with TTN and delayed transition with controls, and assess its value on discrimination of delayed transition and TTN. METHODS: Neonates with gestational age between 37 and 40 weeks who were born with elective caesarian section were included. Eligible neonates were monitored with Masimo Set Radical7 pulse-oximeter (Masimo Corp., Irvine, CA, USA). Postductal PI, oxygen saturation and heart rate were manually recorded every 10 s for 3 min for two defined time periods as 10th minute and 1st hour. Axillary temperature were also recorded. Newborn infants were grouped as control, delayed transition, and TTN. RESULTS: Forty-nine tachypneic (TTN; 21, delayed transition; 28) and 30 healthy neonates completed the study. PI values were similar between three groups at both periods. There were no correlation between PI and respiratory rate, heart rate, and temperature. CONCLUSION: PI assessment in maternity unit does not discriminate TTN from delayed transitional period in newborns which may indicate that peripheral perfusion is not severely affected in either condition.

The risk assessment study for hemolytic disease of the fetus and newborn in a University Hospital in Turkey.

Maternal red-cell alloimmunization occurs when a woman's immune system is sensitized to foreign red-blood cell surface antigens, leading to the production of alloantibodies. The resulting antibodies often cross the placenta during pregnancies in sensitized women and, if the fetus is positive for red-blood-cell surface antigens, this will lead to hemolysis of fetal red-blood cells and anemia. The most severe cases of hemolytic disease in the fetus and newborn baby are caused by anti-D, anti-c, anti-E and anti-K antibodies. There are limited data available on immunization rates in pregnant women from Turkey. The aim of the present study was to provide data on the frequency and nature of maternal RBC alloimmunization in pregnant women in a tertiary care hospital. In this study, we retrospectively evaluated the indirect antiglobulin test results of Rh-negative pregnant women performed in our Blood Bank between 2006 and 2012. Indirect antiglobulin test positive women also underwent confirmatory antibody screening and identification. During the study period, 4840 women admitted to our antenatal clinics. With regards to the major blood group systems (ABO and Rh), the most common phenotype was O positive (38.67%). There were 4097 D-antigen-positive women (84.65%) and 743 women with D-antigen-negative phenotype (15.35%). The prevalence of alloimmunization was found to be 8.74% in D-antigen negative group. Despite prophylactic use of Rh immunglobulins, anti-D is still a common antibody identified as the major cause of alloimmunization in our study (anti-D antibody 68.57%, non-D antibody 31.42%). While alloimmunization rate to D antigen was 6.46%, non-D alloimmunization rate was 2.69% among Rh-negative pregnant women. Moreover, detailed identification facilities for antibodies other than anti-D are not available in most of centers across Turkey. However, large-scale studies on pregnant women need to be done in order to collect sufficient evidence to formulate guidelines and to define indications for alloantibody screening and identification.

Platelet usage trends in a tertiary care hospital - Could it be less and less expensive?

Major bleeding is a life threatening complication of severe thrombocytopenia. The aim of this study was to find out the indications and the threshold for platelet transfusions in the pediatric patients of our hospital throughout 1 year. Records of the hospital's blood bank and the files of the patients were retrospectively reviewed. One hundred and four patients, between ages 0-18 years received 378 platelet units. Pretransfusion platelet counts were found to be significantly lower in hematology-oncology groups compared to other clinics (p<0.05). Single donor apheresis was found to be the major source of platelets in hematology (80.8%, n=147) and oncology (86.5%, n=45) clinics. There is a tendency for using apheresis products without proven superiority compared to platelet concentrates in terms of efficacy. This practice can be abandoned by continuous education.

Clinical use of fresh-frozen plasma in neonatal intensive care unit.

Recommendations for FFP use in neonates are based on a very limited amount of data, and not on well-designed randomized controlled trials. This retrospective study was performed to analyze our experience with FFP use in neonatal intensive care unit (NICU). From January 2006 until August 2011 a total of 80 neonates were identified as having been treated with FFP. The most common indication for FFP use was prolonged PT or aPTT, representing 32.8% of all usages of FFP. Following FFT treatment PT and aPTT normalized in 42% and 60% patients, respectively. Our results suggest that FFP were often used in acceptable indications in NICU.

The prevalence and diagnostic criteria of health-care associated infections in neonatal intensive care units in Turkey: A multicenter point- prevalence study.

BACKGROUND: Healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. METHODS: A HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. RESULTS: The Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (+). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). CONCLUSIONS: Neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.

A new mutation associated with Pierson syndrome. / Una nueva mutación asociada con el síndrome de Pierson.

Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa.

El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadena ß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98 casos y 50 mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.

Survival of periviable infants: 5-year experience at a single center.

Objectives: The primary aim of the present study was to investigate the survival rates of periviable births in a referral Level III NICU center in Turkey; the secondary aim was to determine the perinatal and natal risk factors related to mortality.Methods: This retrospective cross-sectional study was conducted at the Neonatal Intensive Care Unit between 1 January 2011 and 31 December 2015. All live deliveries occurring from 22 0/7 weeks to 25 6/7 week of gestation were included in the study (total n = 165). We documented prenatal, natal, and postnatal clinical processes in each case and assessed morbidity, mortality, and factors related to long-term prognosis.Results: While none of the infants born at 22 weeks of gestation survived until discharge, the survival rates for those admitted to the NICU were 7.5% for infants born at 23 weeks, 29.1% at 24 weeks, and 43.5% at 25 weeks. A total of 46 survived (27.9%), and follow-up data beyond 12 months were available for 22. The prevalence of neurodevelopmental impairment or neurosensory impairment was inversely associated with gestational age.Conclusions: The most important risk factors associated with mortality in periviable infants were SNAPPE score, antenatal corticosteroid use, and gestational age.

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 µmol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 µmol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.

Impact of central line bundle for prevention of umbilical catheter-related bloodstream infections in a neonatal intensive care unit: A pre-post intervention study.

BACKGROUND: Central line-associated bloodstream infection is the most common infection associated with healthcare in preterm infants. The purpose of this 18-month cross-sectional study was to evaluate the effectiveness of bundle applications in the prevention of umbilical venous catheter (UVC)-associated bloodstream infections. METHODS: This study included patients in whom UVCs were inserted and who were diagnosed with central line-associated bloodstream infection between July 1, 2016, and December 31, 2017, according to the Centers for Disease Control and Prevention criteria. During the second 9-month period of the study (April 1, 2017, to December 31, 2017), bundles were implemented. RESULTS: In the prebundle period, 589 patients were admitted to the neonatal intensive care unit, and 6,769 hospitalization days and 485 UVC days were recorded. Similarly, during the bundle period, 508 patients were admitted to the neonatal intensive care unit, and 7,789 hospitalization days and 508 UVC days were recorded. The UVC-associated bloodstream infection rate was 12.4 per 1,000 catheter days in the prebundle period and decreased to 3.9 per 1,000 catheter days in the bundle period. Thus, after introducing bundle applications, the rate of infection decreased by 68% (P < .01). CONCLUSIONS: This study showed that bundle application effectively reduced UVC-associated bloodstream infection.

Effects of two different lipid emulsions on morbidities and oxidant stress statuses in preterm infants: an observational study.

OBJECTIVE: We examined the morbidities and oxidative stress statuses in preterms receiving either SMOFlipid or ClinOleic. STUDY DESIGN: This observational study was performed in Etlik Zubeyde Hanim Hospital, Turkey. Infants received SMOFlipid (5 months) or ClinOleic (7 months). Two hundred and twenty seven infants (SMOFlipid: 93, ClinOleic: 134) very low birth weighted infants were included. The oxidative stress status was evaluated in infants at low risk of oxidative stress by total antioxidant capacity (TAC) and total oxidant status (TOS) and oxidative stress index (OSI; TAC/TOS/100) at baseline, first week and third week. RESULTS: Parenteral nutrition was given for a median of 7 days in both groups. There were statistically insignificantly higher rates of retinopathy of prematurity (9.4 versus 11.7%) and chronic lung disease (4.7 versus 6.7%) in ClinOleic group compared with SMOFlipid group. The TAC, TOS and OSI decreased significantly in ClinOleic group after 1 week, and although the results were not statistically significant, the TAC increased while the TOS and OSI decreased in SMOFlipid group. In both groups, the TAC, TOS and OSI were lower than baseline after 3 weeks. CONCLUSION: SMOFlipid and ClinOleic result in similar oxidative stress statuses after they were stopped, and we detected no statistically significant differences in morbidity rates.

Evaluation of serum ischemia-modified albumin levels in anemia of prematurity.

PURPOSE: Ischemia-modified albumin (IMA) is used to determine tissue hypoxia. We aimed to evaluate the serum IMA levels in preterm infants requiring transfusion due to anemia of prematurity, a clinical condition to cause tissue hypoxia. MATERIALS AND METHODS: This prospective study was performed in Etlik Zubeyde Hanim Hospital, Turkey. Preterm infants with birth weight less than 1500 g and born between 25 and 32 weeks were included during assessment for anemia of prematurity. The transfused infants with anemia of prematurity formed the "transfusion group", the control group consisted of gender, gestational and postnatal age-matched infants without transfusion requirement. Serum samples of control group and pre-transfusion and post-transfusion samples of transfusion group were analyzed for IMA (ABS unit). Serum IMA levels were compared between control group and pre-transfusion samples of transfusion group and were also evaluated for the significance of change after transfusion. RESULTS: Sixty-two infants were included (transfusion group: 31, control group: 31). The pretransfusion serum IMA levels were higher than that of infants in the control group [ABS unit; transfusion group; pre-transfusion: 1.00 (0.76-1.09) and control group: 0.81 (0.52?1.04); p = .03]. Serum IMA levels decreased significantly to 0.79 (0.59-0.95) after transfusion; p = .007. Infants with hematocrit higher than 30% had lower IMA levels [0.69 (0.54-0.96)] than infants with lower hematocrit [0.96 (0.75-1.05)]; p = .002. CONCLUSIONS: Clinicians may bear in mind that serum IMA levels could be utilized as a marker in deciding on erythrocyte transfusion in premature anemia.

Abernethy Malformation Type 2 and Biliary Atresia Coexistence: A Rare Cause of Infantile Liver Transplant.

INTRODUCTION: Abernethy malformation is a very rare condition in which mesenteric venous blood is drained into systemic circulation by an extra hepatic portosystemic shunt. Here we present a case of a female in infantile period who is a liver transplant candidate with biliary atresia and ventricular septal defect (VSD) accompanying Abernethy malformation type 2. CASE REPORT: The patient who underwent Kasai operation at postnatal day 35 was identified as a liver transplant candidate in the postnatal month 6 due to growth retardation in the infantile period, insufficient weight gain and liver failure (portal hypertension and massive gastrointestinal bleeding). CONCLUSION: Abernethy malformation is divided into two groups as type 1 and type 2; type 2 shunts, which are less common, but more common in males, are not accompanied by other congenital anomalies. Due to the female gender, having biliary atresia and VSD, the development of liver failure at an early stage despite undergoing Kasai operation at the appropriate time, our case differs from the literature. In conclusion, this case is presented in order to indicate the proper and effective use of imaging methods in neonatal cholestasis cases.How to cite this article: Ergon EY, Ermis N, Colak R, Polat B, Ozdemir S, Yildiz M, Kulali F, Ecevit C, Ergun O, Calkavur S. Abernethy Malformation Type 2 and Biliary Atresia Coexistence: A Rare Cause of Infantile Liver Transplant. Euroasian J Hepatogastroenterol, 2018;8(2):163-166.

Effects of a closed system suction connector on airway resistance in ventilated neonates.

BACKGROUND/AIM: Increased airway resistance reduces the effectiveness of ventilation treatment. Endotracheal tubes (ETTs) and connectors contribute to resistance. However, the effect of a closed system suction (CSS) connector is not well known. We compared the in vivo resistance occurring with a CSS connector with that of the standard connector. MATERIALS AND METHODS: This prospective study was conducted at Gazi University Hospital's neonatal intensive care unit. Intubated neonates were studied for two cycles; each cycle contained two periods of ETT + connector pairs (15 min/period) as follows: cycle 1 [A: long ETT + standard connector; B: long ETT + CSS connector] and cycle 2 [C: shortened ETT + standard connector; D: shortened ETT + CSS connector]. Resistance of 40 breaths/period was averaged for each case, and the means were analyzed by Wilcoxon test for pairwise comparisons between standard and CSS connectors. As each case provided two cycle data, 16 cycle data were compared. RESULTS: The CSS connector increased resistance by 13.8% (range: 3.0%-22.1%) compared to the standard connector; P < 0.001. The resistance increase was similar between long [17.3% (range: 3.0%-17.7%)] and shortened ETTs [15.3% (range: 5.0%-29.6%)]; P = 0.834. CONCLUSION: CSS connectors were found to increase airway resistance in ventilated neonates. The contribution of CSS should be considered during ventilation, particularly in the presence of difficulty in providing sufficient tidal volume.

Effects of Volume Guaranteed Ventilation Combined with Two Different Modes in Preterm Infants.

BACKGROUND: Volume-controlled ventilation modes have been shown to reduce duration of mechanical ventilation, incidence of chronic lung disease, failure of primary mode of ventilation, hypocarbia, severe intraventricular hemorrhage, pneumothorax, and periventricular leukomalacia in preterm infants when compared with pressure limited ventilation modes. Volume-guarantee (VG) ventilation is the most commonly used mode for volume-controlled ventilation. Assist control, pressure-support ventilation (PSV), and synchronized intermittent mandatory ventilation (SIMV) can be combined with VG; however, there is a lack of knowledge on the superiority of each regarding clinical outcomes. Therefore, we investigated the effects of SIMV+VG and PSV+VG on ventilatory parameters, pulmonary inflammation, morbidity, and mortality in preterm infants. METHODS: Preterm infants who were born in our hospital between 24-32 weeks gestation and needed mechanical ventilation for respiratory distress syndrome were considered eligible. Patients requiring high-frequency oscillatory ventilation for primary treatment were excluded. Subjects were randomized to either SIMV+VG or PSV+VG. Continuously recorded ventilatory parameters, clinical data, blood gas values, and tracheal aspirate cytokine levels were analyzed. RESULTS: The study enrolled 42 subjects. Clinical data were similar between groups. PSV+VG delivered closer tidal volumes to set tidal volumes (60% vs 49%, P = .02). Clinical data, including days on ventilation, morbidity, and mortality, were similar between groups. Chronic lung disease occurred less often and heart rate was lower in subjects who were ventilated with PSV+VG. The incidence of hypocarbia and hypercarbia were similar. Interleukin-1ß in the tracheal aspirates increased during both modes. CONCLUSION: PSV+VG provided closer tidal volumes to the set value in ventilated preterm infants with respiratory distress syndrome and was not associated with overventilation or a difference in mortality or morbidity when compared to SIMV+VG. Therefore, PSV+VG is a safe mode of mechanical ventilation to be used for respiratory distress syndrome.

Impact of mode of delivery on skin microcirculation in term healthy newborns within the first day of life.

BACKGROUND: Microcirculation is an important component of hemodynamic physiology. It can be assessed simply by clinical scores or by a variety of techniques including sidestream dark field (SDF) imaging and peripheral perfusion index (PI) measurements. Mode of delivery may have affects on microcirculation during transitional period. The aim of this study was to compare skin microcirculation in newborns born via vaginal delivery (VD) or cesarian section (C/S). METHODS: Term healthy newborns not requiring NICU admission were included. Vital signs were recorded. Skin microcirculation was determined by clinical scoring including capillary refill time, skin color, warmth of extremities, by SDF imaging where capillary density and microvascular flow is determined and by PI measurements where pulsatile and nonpulsatile capillary flow is measured. Assessments were done at 30 min and 24 h of life. Results were compared between VD and C/S groups and overtime. RESULTS: There were 12 newborns in VD group and 25 newborns in C/S group. No difference was observed in microcirculation assessments between groups. However VD group had increased hyperdynamic flow overtime. CONCLUSION: In healthy term newborns microcirculation does not seem to be affected by mode of delivery, however results may differ in sick or preterm newborns.

Type VI Aplasia Cutis Congenita: Bart's Syndrome.

Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions.

Ileo-ileal intussusception in a premature neonate: an unusual cause of NEC in premature babies.

Intussusception is a rare entity in neonates. It may present with non-specific signs including abdominal distension, feeding intolerance, vomiting and bloody stools. Symptomatology is similar to Necrotizing Entero-Colitis (NEC). Ultrasound can help to establish early diagnosis in neonate. A 27-week preterm newborn was initially suspected as NEC based on abdominal distention, bilious vomiting, worsening clinical condition and dilated loops of bowel on X-ray, which turned out to be ileo-ileal intussusception. Diagnosis was made by ultrasound obtained for a palpable mass to rule out intra abdominal abscess and lack of improvement in clinical condition despite 5 days of conservative treatment. Surgery was performed consisting of removal of the necrotic intussusception area and end-to-end anastomosis and patient was discharged from hospital on day 60 of life. As a conclusion, pathological abdominal findings in preterm newborns can also be due to conditions other than NEC and ultrasound may be a useful tool for timely and accurate diagnosis.

Una nueva mutación asociada con el síndrome de Pierson / A new mutation associated with Pierson syndrome

El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadenaß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98casos y 50mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.

Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa