Retrospective evaluation of the autoacoustic emission test and auditory brainstem response in risky newborns

Introduction: The early development of the sense of hearing in the baby affects both language and language development considerably, as well as emotional, social and mental development. Hearing loss, which higher in newborns with risk factors, is 1-2% incidence in 1000 live births. Evoked Otoacoustic Emissions (EOAE) and Auditory Brainstem Response (ABR) methods are used in neonatal hearing screenings. We aimed to evaluate the EOAE and ABR results of the newborns in this study and the comparison of the two tests. Methods: Between January 2011 and July 2011, 104 newborns with a high-risk factor in our hospital were evaluated retrospectively. Results: The risk factors for the congenital anomaly, be in intensive care and neonatal hyperbilirubinemia, were found to be statistically significantly higher in the Hearing Loss group (+) than in the Hearing Loss group (-). In logistic regression analysis, it was determined that neonatal hyperbilirubinemia was a significant risk factor for hearing loss. Discussion and Conclusion: Our findings contributed to the national data and our findings suggest that neonatal hyperbilirubinemia increases the risk of hearing loss

Evaluation of demographic features, clinical and laboratory findings of probable cases with Crimean-Congo hemorrhagic fever

Amaç: Biz, 2007-2009 yılları arasında Kırım Kongo Kanamalı Ateş Hastalığı riski taşıyan, kene tarafından ısırılarak kliniğimize getirilen çocukları semptomlar, demografik özellikler ve laboratuvar bulguları açısından değerlendirmeyi amaçladık. Materyal ve metod: Bu çalışmaya, kene tarafından ısırılmış yaşları 0-14 yaş arası olan 32 erkek ve 31 kız çocuğu alınmıştır. Kız çocuklar için ortalama yaş aralığı 3,92 ± 2.75, erkek çocuklar için ise 4,42 ± 2.77 yaş idi. Başvuru semptomları, hematolojik bulgular (hemogram, AST, ALT, INR, PT ) ve hastalığın sonucu değerlendirildi. Bulgular: Kliniğimize yatırılarak, takip ve tedavi edilen çocuklarda 3-10 günlük inkübasyon dönemini takiben akut başlangıçlı ateş en sık görülen semptomdu. Ateşi baş ağrısı, myalji, artralji, iştahsı zlık, güçsüzlük gibi nonspesifik semptomlar takip etti. Laboratuvar bulgularında lökositoz, düşük hemoglobin ve hematokrit değerleri, yüksek AST, uzamış PT ve trombositopeni görüldü. Tüm çocuklarda tam iyileşme sağlandı. Sonuç: 2007-2009 salgınlarında, Kırım Kongo Kanamalı Ateşi etkeni olan Hyalomma cinsi kenenin İstanbul daki olgulardan sorumlu olmadığını gözledik. Kırım Kongo Kanamalı Ateşi epidemiyolojisi ve yayılımını; iklim, çevresel etmenler ve kişilerin alışkanlıkları gibi faktörler etkilediğinden, halkın bilinçlendirilmesini içeren kene kontrol ve korunma stratejilerinin farkında olmalıyız.Objective: We aimed to evaluate the symptoms, demographic features and laboratory findings of children who were bited by ticks and taken to our clinic with risk assessment of Crimean- Congo Hemorrhagic Fever (CCHF) between 2007- 2009 years. Materials and methods: This study included 32 male and 31 female children aged between 0 and 14 years old who were bited by ticks. The mean ages were 3.92 ± 2.75 years for girls and 4.42 ± 2,77 years for boys. Presenting symptoms, haematological manifestations (hemogram, AST, ALT, INR, PT ) and outcome of the disease were evaluated. Results: Following an incubation period of 3-10 days, acute- onset fever was the most commonly seen symptom among our hospitalized children. Nonspesific symptoms such as headache, myalgia, arthalgia, nausea, weakness followed the fever. Laboratory findings revealed leucocytosis, decreased hemoglobin and haematocrit levels, elevated AST, prolonged prothrombin time and thrombocytopenia. Full recovery was obtained in all children without any fatal outcome. Conclusion: We experienced that, the vector for CCHF, the Hyalomma tick was not present in ‹stanbul between 2007-2009 outbreaks. Since climate, environmental factors and human behaviour influence CCHF epidemiology and spread, whe should be aware of tick-control and prevention strategies including public education

The effects of antiepileptic therapies on se-rum lipid levels in childhood

Amaç: Biz bu çalışmayı, epileptik çocukların uzun süreli izleminde uygulanan antiepileptik tedavinin, lipid profiline etkisini araştırmak için yaptık. Materyal Metod: Bu çalışma, yaşları 2.5 ile 14 yaş arası değişen 56 çocuğu kapsamaktadır. Bunların ,ortalama yaş aralığı 8.71±3.3 yaştır. Çocukların 24’ü kız, 32’si erkektir. Çalışmaya alınan 19 çocuk generalize epilepsi, 37’si parsiyel epilepsi geçirmişti. Karbamazepin kullanan 16 çocuk grup I’i, okskarbazepin kullanan 21 çocuk grup II’yi, sodyum valproat kullanan 19 çocuk grup III’ü oluşturdu. Tedavinin başlangıcında, 3., 6. ve 12. aylarında, venöz kan alınarak serum kolesterol, VLDL, LDL, HDL, trigliserit seviyeleri bakıldı. Bulgular: Gruplar arasında başlangıç, 3., 6. ve 12. serum total kolesterol, VLDL, LDL, HDLve trigliserit seviyeleri açısından anlamlı farklılık bulunmadı. Sonuç: Oniki ay boyunca uygulanan antiepileptik tedavi, gruplar arasında lipid seviyeleri ( kolesterol, HDL, LDL, VLDL, trigliserit )üzerine anlamlı değişiklik göstermedi. Bir yıllık,izlemde serum lipid seviyelerinin etkilenmediği sonucuna vardık.Objective: We performed this study, in order to investigate the effects of antiepileptic therapies on serum lipid levels during long term follow- up of epileptic children. Material and Method: This study included 56 children, whose ages were 8.71±3.3 years. Twentyfour of children were female and 32 of whom were male. When 19 children had generalize epilpsies, 37 had parsiyel ones. Carbamazepin has been experienced on 16 ( grup I ), Okskarbazepin on 21 ( grup II ) and sodium valproat has been experienced on 19 children .At beginning and during, the third, sixth and twelfth months of antiepileptic therapies, serum lipid levels were evaluated. Results: There was no statiscially difference for serum total colesterol levels among the groups during the 3., 6., 12. months controls. Serum trigliserit LDL, HDL, VLDLcholesterol levels revealed no significant difference as well, among the groups during monthly (3., 6., 12. month) controls. Conclusion : The groups who were followed by different antiepileptic therapies revealed no significant difference for serum lipid levels during 12 months.We concluded that, antiepileptic therapies did not affect serum lipid levels during one year follow-up

A Comparison of Slow Infusion Intermittent Feeding versus Gravity Feeding in Preterm Infants: A Randomized Controlled Trial

Background: The transition to full enteral feeding is important for ensuring adequate growth in preterm infants. Aims: The aim of this study was to investigate the effects of two different intermittent feeding methods on the transition to full enteral feeding in preterm infants. Study design: A prospective, randomized controlled study was conducted in a neonatology and perinatology center. Subjects: Preterm infants with a gestational age between 24 + 0/7 and 31 + 6/7 were included in this study. They were divided into two groups: the SIF (slow infusion feeding) group and the IBF (intermittent bolus feeding) group. In the SIF group, feed volumes were administered over one hour using an infusion pump through an orogastric tube, with feeding occurring every three hours. The IBF group received enteral feeding using a gravity-based technique with a syringe through an orogastric tube, completed within 10 to 30 min. Outcome measures: The primary outcome was the achievement of full enteral feeding and the occurrence of feeding intolerance. Results: A total of 103 infants were enrolled in the study (50 in SIF and 53 in IBF). The time to achieve full enteral feeding did not differ significantly between the two groups (p = 0.20). The SIF group had significantly fewer occurrences in which gastric residual volume exceeded 50% (p = 0.01). Moreover, the SIF group had a significantly shorter duration of non-per-oral (NPO) status than the IBF group (p = 0.03). Conclusions: It is our contention that the use of the SIF method as an alternative feeding method is appropriate for infants with feeding intolerance and those at high risk of feeding intolerance

Effect of once-a-week vs thrice-a-week application of mupirocin on methicillin and mupirocin resistance in peritoneal dialysis patients: Three years of experience

Introduction. The application of mupirocin to the exit-site in peritoneal dialysis (PD) patients decreases peritonitis and exit-site infection (ESI) considerably. However, long-term application of mupirocin may result in the development of methicillin- and mupirocin-resistant strains. In this study, we aimed to investigate the effect of once-a-week vs. thrice-a-week application of mupirocin on mupirocin and methicillin resistance in ID patients. Patients and methods. Thirty-six patients were divided into two groups based on frequency of weekly mupirocin application at the catheter exit-site. In group 1, patients were randomly assigned to apply mupirocin once a week (n = 18), while patients in group 2 applied mupirocin three times a week (n = 18). We obtained cultures from the nares, inguinal area, axillae, and the exit site. The microorganisms reproduced, and the resistance to mupirocin and methicillin were recorded. Three years of follow-up of these patients were also recorded. Results. During the three-year follow-up period, seven episodes (0.26 episodes/patient-years) of ESI and 13 episodes (0.36 episodes/patient-years) of peritonitis were determined in group 1, and one episode of ESI (0.11 episodes/patient-years) and six episodes (0.24 episodes/patient-years) of peritonitis were determined in group 2. The rate of peritonitis and ESI were, respectively, 56% and 92% lower in group 2 when compared to group I (p = 0.041 and p = 0.038, respectively). Throughout three years, a total of 1852 samples were analyzed. In group 1, S. aureus reproduction rate and mupirocin resistance were 2.11% and 0.2%, respectively. In group 2, S. aureus reproduction rate was 0.93%, and no mupirocin resistance was observed. Methicillin-resistant S. aureus was not observed in both groups. Coagulase-negative staphylococcus (CNS) reproduction rate was 70.56% (mupirocin resistance: 59.87% and methicillin resistance: 33.7%) and 72.56% (mupirocin resistance: 64.7% and methicillin resistance: 33.3%) in groups 1 and 2, respectively. No peritonitis and ESI secondary to S. aureus and fungal agents were observed in both groups. Conclusion. The thrice-a-week application of mupirocin seems to be more efficient when compared to once-a-week application of mupirocin. Long-term application of mupirocin may cause the development of mupirocin- and methicillin-resistant strains, especially in CNS, which results in a difficulty for struggling against infections

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans

WOS: 000464997600005PubMed ID: 30893644Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B '' gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown. Patients and methods: Four girls from four unrelated families with 46, XY complete gonadal dysgenesis were studied using exome or Sanger sequencing of PPP2R3C gene. In total, four patients and their heterozygous parents were investigated for clinical, laboratory, immunohistochemical and molecular characteristics. Results: We have identified three different homozygous PPP2R3C variants, c.308T>C (pL103P), c.578T>C (pL193S) and c.1049T>C (pF350S), in four girls with 46, XY complete gonadal dysgenesis. Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. We have shown a decreased SOX9-Phospho protein expression in the dysgenetic gonads of the patients with homozygous PPP2R3C variants suggesting impaired SOX9 signaling in the pathogenesis of gonadal dysgenesis. Heterozygous males presented with abnormal sperm morphology and impaired fertility. Conclusion: Our findings suggest that PPP2R3C protein is involved in the ontogeny of multiple organs, especially critical for testis development and spermatogenesis. PPPR3C provides insight into pathophysiology, as well as emerging as a potential therapeutic target for male infertility.Medical Research Council of Marmara University [SAG-A-120418-0152]This work has been supported by the Medical Research Council of Marmara University (Project Grant SAG-A-120418-0152, T G)

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans

Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B '' gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown

Risks and outcomes of invasive fungal infections in pediatric allogeneic hematopoietic stem cell transplant recipients receiving fluconazole prophylaxis: a multicenter cohort study by the Turkish Pediatric Bone Marrow Transplantation Study Group

###EgeUn###Invasive fungal infections (IFIs) are a major cause of infection-related morbidity and mortality in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Data from pediatric settings are scarce. To determine the incidence, risk factors and outcomes of IFIs in a 180-day period post-transplantation, 408 pediatric patients who underwent allogeneic HSCT were retrospectively analyzed. The study included only proven and probable IFIs. The cumulative incidences of IFI were 2.7%, 5.0%, and 6.5% at 30, 100, and 180 days post-transplantation, respectively. According to the multivariate analysis, the factors associated with increased IFI risk in the 180-day period post-HSCT were previous HSCT history (hazard ratio [HR], 4.57; 95% confidence interval [CI] 1.42-14.71; P =.011), use of anti-thymocyte globulin (ATG) (HR, 2.94; 95% CI 1.27-6.80; P =.012), grade III-IV acute graft-versus-host-disease (GVHD) (HR, 2.91; 95% CI 1.24-6.80; P =.014) and late or no lymphocyte engraftment (HR, 2.71; 95% CI 1.30-5.62; P =.007). CMV reactivation was marginally associated with an increased risk of IFI development (HR, 1.91; 95% CI 0.97-3.74; P =.063). IFI-related mortality was 1.5%, and case fatality rate was 27.0%. The close monitoring of IFIs in pediatric patients with severe acute GVHD who receive ATG during conditioning is critical to reduce morbidity and mortality after allogeneic HSCT, particularly among those with prior HSCT and no or late lymphocyte engraftment