MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.

A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return.

Simpson-Golabi-Behmel syndrome is a clinical condition described by Simpson, characterized with multiple congenital anomalies and caused by Glypican 3 (GPC3) mutations of the X-linked gene. Typical findings such as overgrowth, hypoplastic changes of hands and feet, visceromegaly, cleft palate and macrocephalic distinctive facial features and multiple organ anomalies might be observed. GPC3 mutation is claimed to generally cause metopic synostosis. This case was reported because even though a lot of anomalies accompanying Simpson-Golabi-Behmel syndrome had been noticed, combination of metopic synostosis, has not been reported before.

Comparison of Cerebral Oximeter and Pulse Oximeter Values in the First 72 Hours in Premature, Asphyctic and Healthy Newborns.

AIM: The monitoring of oxygenation is essential for providing patient safety and optimal results. We aimed to determine brain oxygen saturation values in healthy, asphyctic and premature newborns and to compare cerebral oximeter and pulse oximeter values in the first 72 hours of life in neonatal intensive care units. METHODS: This study was conducted at the neonatal intensive care unit (NICU) of Van Yüzüncü Yil University Research and Administration Hospital. Seventy-five neonatal infants were included in the study (28 asphyxia, 24 premature and 23 mature healthy infants for control group). All infants were studied within the first 72 hours of life. We used a Somanetics 5100C cerebral oximeter (INVOS cerebral/somatic oximeter, Troy, MI, USA). The oxygen saturation information was collected by a Nellcor N-560 pulse oximeter (Nellcor-Puriton Bennet Inc, Pleasanton, CA, USA). RESULTS: In the asphyxia group, the cerebral oximeter average was 76.85 ± 14.1, the pulse oximeter average was 91.86 ± 5.9 and the heart rate average was 139.91 ± 22.3. Among the premature group, the cerebral oximeter average was 79.08 ± 9.04, the pulse oximeter average was 92.01 ± 5.3 and the heart rate average was 135.35 ± 17.03. In the control group, the cerebral oximeter average was 77.56 ± 7.6, the pulse oximeter average was 92.82 ± 3.8 and the heart rate average was 127.04 ± 19.7. CONCLUSION: Cerebral oximeter is a promising modality in bedside monitoring in neonatal intensive care units. It is complementary to pulse oximeter. It may be used routinely in neonatal intensive care units.

Corrigendum: Incidence, prevalence and care of type 1 diabetes in children and adolescents in Germany: Time trends and regional socioeconomic situation.

[This corrects the article on p. 57-78 in vol. 8.].

Baller-Gerold syndrome associated with dextrocardia.

Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia.

Congenital myasthenic syndrome: a case report.

SUMMARY: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.

Increased serum malondialdehyde level in neonates with hypoxic-ischaemic encephalopathy: prediction of disease severity.

Increased serum level of malondialdehyde (sMDA) in neonates with hypoxic-ischaemic encephalopathy (HIE) was evaluated as a possible criterion for determining HIE severity. Mean body weight and gestational age in a healthy control group of neonates (n = 63) and in neonates with HIE (n = 69) were statistically similar. Apgar scores at 1 and 5 min for the HIE group were significantly lower than for the control group. The mean sMDA level for the HIE group was significantly higher than the control group. Within the HIE group, the sMDA level for neonates with Sarnat's grade II and III was significantly higher than for those with Sarnat's grade I. There was a significant correlation between Sarnat's grading and the sMDA level. The sMDA level was significantly higher for neonates who died (n = 20) compared with those who survived (n = 49). In conclusion, the sMDA level was highest in neonates with HIE and correlated with HIE severity. The sMDA concentration could, therefore, be used as a criterion for predicting disease severity.

The treatment effect on peripheral B cell markers in antibody positive myasthenia gravis patients.

B cells play a major role in the pathophysiology of myasthenia gravis (MG) with their ability to produce disease specific, pathogenic antibodies. However, their status during disease development and follow-up stages of the disease in the peripheral blood may need further studies to determine useful markers. In this study, we aimed to detect B cell associated factors concerning immunosuppressive treatment in generalized non-thymomatous MG patients. Although CD19+ B cell distribution did not vary among disease subgroups, expressions of both CD38 and BAFFR were altered on B cells in MG patients under immunosuppressive therapy. Serum levels of BAFF were elevated in untreated MG patients as compared to treated MG patients and healthy controls. B cell activation factors may show profound alterations due to immunosuppression.

The frequency of consanguineous marriage in eastern Turkey.

UNLABELLED: The frequency of consanguineous marriage in Eastern Turkey: OBJECTIVE: The rate of consanguineous marriage (CM) varies depended on different factors such as race, characteristics of population, and religion and moral features in different countries. Gene frequency and genetic structure are changed by CMs. The aim of the present study is to assess the prevalence of CM and its effects on miscarriage, stillbirth, congenital malformation and ratio of newborn death. METHODS: This study was performed in Van region, Eastern Turkey, between September 2005 and April 2006. A total of 650 families from 24 districts chosen in accordance with the number of inhabitants were included in this study. First cousin marriages were accepted as a first degree CMs, sesquialter and second cousin marriages as second degree and marriages between distant relatives were accepted as a third degree CM. Monthly income of the families was classified in accordance with minimum wage determined by government. RESULTS: Of all families, 224 (34.4%) had CM, and 168 (75%) had first-degree consanguinity. A lower CM rate was found in mothers who graduated from secondary school or upgrading (p < 0.01). However, no relationship was found between CM and fathers' education level. While a low CM rate was found in families who had two or less children (p < 0.01), high rate was observed in families who had five or more children. In addition, a high rate of miscarriage, stillbirth and mental-motor retardation was found in families with CM (p < 0.05). The rate of child mortality between the aged 0-2 years was found to be higher in families with CM (p < 0.01). The higher CM rate was observed in families who married due to pressure or insistence of their families than married voluntarily (p < 0.05). CONCLUSION: Our study showed that CM rate was very high, 34.4%, in our region Eastern Turkey.

The selenium levels of mothers and their neonates using hair, breast milk, meconium, and maternal and umbilical cord blood in Van Basin.

The objective of the present study is to calculate linear regressions between a mother and her child with respect to their selenium concentration (ng/g) in the following traits: maternal blood and umbilical cord blood, maternal and child hair, maternal milk and child umbilical cord blood, maternal milk and meconium, maternal blood plasma, and child meconium. The data were collected at Research Hospital of the University of Yüzüncü Yil from 30 pairs of mothers and their newborn baby. The mean maternal serum Se level in 30 mothers was 68.52 +/- 3.57 ng/g and cord plasma level was 119.90 +/- 18.08 ng/g. The Se concentration in maternal and neonatal hair was 330.84 +/- 39.03 and 1,124.76 +/- 186.84 ng/g, respectively. The Se concentration of maternal milk at day 14 after delivery was determined as 68.63 +/- 7.78 ng/g (n = 13) and the concentration of Se was 418.90 +/- 45.49 ng/g (n = 22) for meconium of neonatal. There was no significant difference between maternal blood and milk Se levels. However, hair Se concentration was significantly higher than milk and maternal blood Se level. For each trait comparison, the average absolute difference in log(10)-transformed Se concentration was calculated between a mother and her child. The observed average absolute difference was compared with a test distribution of 1,000 resampled bootstrap averages where the number of samples was maintained but the relationship between a mother and her child was randomized among samples (alpha = 0.05).

Distribution, optimum detection time and antimicrobial susceptibility rates of the microorganisms isolated from blood cultures over a 4-year time period in a Turkish university hospital and a review of the international literature.

This study retrospectively examined 8986 blood cultures from patients over a 4-year time period in an eastern Turkish university hospital to determine the detection times and distribution of isolated microorganisms using the automated BACTEC 9050 and BACTEC 9120 systems. A total of 1914 (21.3%) blood cultures contained pathogenic microorganisms and 252 (2.8%) positive cultures were considered contaminated. Of all the cultures, 18 (0.2%) were false positives and 224 (2.5%) were false negatives. In cultures containing pathogenic microorganisms, Gram-positive and Gram-negative bacterial isolation rates were 436 (22.8%) and 1440 (75.2%), respectively, and yeasts (all Candida sp.) were found in 38 (2.0%) cultures. Coagulase-negative staphylococci occurred in 936 (48.9%) cultures and Staphylococcus aureus occurred in 302 (15.8%) cultures. The mean detection time for all of the pathogens was 21 h and Brucella spp were isolated within 10 days. This study helps in understanding the epidemiology of the region and in providing positive therapeutic approaches. A review of the international literature helps to place this understanding into a global context.

Infections related to Granulicatella adiacens: Report of two cases and review of literature.

Infections due to nutritionally variant streptococci are diagnosed rarely due to difficulties encountered during identification and isolation. Mortality rate in these infections is high therefore appropriate supplemented media and reliable detection systems should be implemented to isolate these fastidious organisms. Here, we describe two cases of Granulicatella adiacens infections. All microbiologic identifications were made with MALDI-TOF Vitek MS (BioMerieux, France), and the results confirmed by 16S ribotyping.

Candida albicans outbreak associated with total parenteral nutrition in the neonatal unit.

BACKGROUND: The most frequently isolated fungi in patients using TPN belongs to the Candida genus. Various infections including venous catheter infections, fungemia, endocarditis and ophthalmitis may be encountered. OBJECTIVE: Upon growth of Candida in the blood cultures from the pediatric (neonatal) unit of our hospital, a surveillance was performed in this unit and involving the health care workers. Clonal relationships of the isolates were investigated with molecular tests. METHODS: Blood samples obtained from the patients in pediatric neonatal unit were studied with automatized blood culture [BacT/Alert (Bio Mιrioux, France)]. Yeast isolates from environmental surveillance cultures (TPN solutions, hands of healthcare personnel, ιtagθre, etc) and patients were identified as C. albicans with conventional methods and ID 32 C and ATB TM Fungus 3 (Biomerieux, France) kits. Clonal similarity was determined by using AP-PCR as initial method and we have also typified all strains by the method of REP-PCR (diversilab system,bioMιrieux). Finally; Pulsed Field Gel Electrophoresis (PFGE) was used for confirmation. RESULTS: C. albicans was isolated in blood cultures of seven patients. Similar antifungal susceptibility patterns were observed in all isolates. AP-PCR and REP-PCR showed that the C. albicans isolates grown in the TPN solution and from the patients' blood cultures were clonally same strains. PFGE analysis further confirmed this clonality. CONCLUSION: According to results of the molecular methods, we thought that a C. albicans outbreak had occurred in the neonatal pediatric unit, due to contamination of TPN solution.

Outcomes and Readmissions After Continuous Flow Left Ventricular Assist Device: Heartmate II Versus Heartware Ventricular Assist Device.

INTRODUCTION: Donor organ shortage is still a problem for heart transplantation. Only 10% of patients in waiting list undergo heart transplantation. Over the last 5 years, 2 different continuous flow pumps, the HeartMate II and the HeartWare, have been successful clinically in the alternative treatment of patients with end-stage heart disease. METHODS: Fifty-five patients underwent left ventricular assist device implantation between 2011 and 2014. Patients were followed on pump support for complications and intraoperative outcomes. Potential device-related complications include infections, bleeding liver dysfunction, renal dysfunction, right ventricular failure, stroke, thromboembolism, gastrointestinal bleeding, and wound infection. RESULTS: The only preoperative significant difference between groups in the study was age; the Heartmate II group were significantly older than Heartware group. There were no differences in gender, body mass index, or body surface area. The Heartware has a better 1-year survival rate, although the difference was not significant. Patients with Heartmate II had a higher incidence of gastrointestinal bleeding and driveline infection. The Heartware group had a higher incidence of stroke and pump thrombosis. CONCLUSIONS: The Heartmate II and Heartware are comparable in most respects such as survival, intraoperative features, and major complications.

Acute respiratory distress syndrome due to overdose desferrioxamine: report of a child.

In this article, we present an 18-month-old girl with acute iron poisoning who died from acute respiratory distress syndrome due to overdose of desferrioxamine. Our purpose is to emphasize the importance of close follow-up children with acute iron poisoning for desferrioxamine toxicity.

The effect of verapamil on the prevalence and severity of cyclosporine-induced gingival overgrowth in renal allograft recipients.

Cyclosporine A (CsA) and verapamil are two agents used in renal transplantation, both of which are suspected of inducing gingival overgrowth. This study was conducted to investigate the effect of verapamil on the severity and prevalence of CsA-induced gingival overgrowth. Fifty-one (51) renal transplant recipients (total group) of whom 22 were using only CsA (Group A) and 29 of whom were prescribed CsA + verapamil (Group B) were evaluated for various periodontal and pharmacological parameters. No statistically significant differences were found in age, sex, plaque index, gingival index, calculus index, probing depth, CsA oral dose, CsA whole blood level, duration of CsA therapy, azathioprine dose, and prednisolone dose. Although the prevalence of the gingival overgrowth was more pronounced in CsA + verapamil group compared to CsA group (51.72% vs. 40.91%), the difference was not statistically significant. Similarly, the severity of gingival overgrowth, although more manifest in CsA + verapamil group than CsA patients (34.24% vs. 28.91%), was not significantly different. Gingival overgrowth scores in the main group, CsA, and CsA + verapamil groups were found to be positively correlated to periodontal probing depths (r = 0.60, r = 0.70, r = 0.52, respectively) and the gingival index (r = 0.60, r = 0.70, r = 0.54, respectively). CsA oral dose, whole blood level, and duration of CsA therapy were not found to be correlated with the gingival overgrowth in either group. Likewise, the dose of verapamil and the duration of verapamil therapy were not correlated with the gingival overgrowth in Group B. This study indicates that verapamil, when prescribed as the calcium channel blocker in renal transplant patients, has no augmenting effect on the severity and the prevalence of CsA-induced gingival overgrowth.

Clinical effects of periodontal therapy on the severity of cyclosporin A-induced gingival hyperplasia.

BACKGROUND: Gingival hyperplasia (GH) is a major side effect associated with cyclosporin A (CsA) therapy. The condition is further augmented due to the gingival inflammation. In this study, the effects of initial periodontal therapy and gingival curettage are analyzed in a group of patients with clinically significant (>30%) CsA-induced gingival hyperplasia. METHODS: The test group of 15 patients received oral hygiene instructions, supra- and subgingival scaling, polishing, and gingival curettage only oral hygiene instructions were given to 16 control subjects. Plaque index (PI), gingival index (GI), calculus index (CI), periodontal probing depth (PD), and gingival hyperplasia were recorded at baseline and repeated 8 weeks after treatment. Current doses of immunosuppressive agents, serum concentrations of CsA, and duration of CsA therapy were recorded as the pharmacological parameters. RESULTS: Statistical evaluation revealed that all clinical variables showed statistical decreases compared to baseline in the treated patients, while none of the parameters changed significantly in the control group. Initial GH scores of 53.63% in controls and 53.40% in the treated patients were 52.83% and 32.13% following treatment, respectively. A difference of 21.27% in the severity of treated GH was accompanied by a 0.56 decrease in GI scores in the test group. CONCLUSIONS: Compared to the initial observations, the results suggested that nearly 60% of the condition could be of fibrotic origin. Initial periodontal therapy and curettage resulted in the resolution of the inflammation in CsA-induced GH. Further investigation of the treated patients has shown that 7 out of 15 patients (47%) in the test group responded well and their GH scores decreased below 30% at the end of the study. The treatment in this study was effective in eliminating the necessity of more extensive surgical modes of treatment, such as gingivectomy, in 47% of cases.