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Background: Although international guidelines generally recommend the back to back use of short-acting β-agonizts (SABA) within a short time in the management of acute wheezing in children with asthma, there is still uncertainty in the evidence of short term outcome. Thus, this study aimed to investigate the efficacy of back to back and single use of inhaled SABA by lung function testing., Methods: This was a prospective, double-blinded, placebo controlled study conducted in children ≥6 years of age with a history of asthma. Children who presented with an acute asthma exacerbation (AAE) with a forced expiratory volume in 1 s (FEV 1 ) between 40% to 60% were enrolled in the study if they had a first dose to SABA response of FEV 1  ≥ 12%. All children were then randomly assigned either to receive two additional doses of inhaled SABA (300 µg per dose) or placebo. Spirometric analysis included forced vital capacity (FVC), FEV 1 , FEV 1 /FVC, PEF, and FEF 25-75 at baseline, 15, 30, and 45 min for each group. Oxygen saturation and heart rate were monitored during the study period., Results: A total of 93 patients (inhaled SABA group; n = 48 vs. placebo group; n = 45) out of 110 enrolled patients completed the study. Baseline demographic characteristics of patients include age, gender, age of diagnosis, parental asthma, history of allergic rhinitis and atopic dermatitis, current asthma treatment, IgE and skin prick test were similar among groups. (p > .05) When lung function parameters were compared at each time interval during the study period, there were no statistical significance found in FVC, FEV 1 , FEV 1 /FVC, PEF and forced expiratory flow between 25% and 75% (FEF 25-75 ) among groups. (p > .05) There were also no differences between groups for changes in heart rate and oxygen saturation. (p > .05) CONCLUSION: A single dose of inhaled SABA provides similar short term bronchodilator effect as back to back administration of inhaled SABA in children with AAE who showed an initial response to SABA of FEV 1  ≥ 12%., (© 2024 Wiley Periodicals LLC.)

Introduction: Rare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting., Methods: Ten infants were enrolled based on predefined inclusion criteria, and trio RGS was performed. The mean age of the participants was 124 days, with congenital abnormalities being the most common indication for testing. Three patients had consanguineous parents. The mean turnaround time from enrollment to delivery of results was 169 h, with a diagnostic yield of 50%., Results: Three patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses., Discussion: This study demonstrates the feasibility and results of RGS in Turkish hospital settings, emphasizing the importance of timely genetic diagnosis in reducing the diagnostic odyssey for families and improving patient care. Further research is needed to evaluate the cost-effectiveness and applicability of RGS in the Turkish healthcare system for children with diseases of uncertain etiology., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Guner Yilmaz, Akgun-Dogan, Ozdemir, Yuksel, Hatirnaz Ng, Bilguvar, Ay, Ozkose, Aydin, Yigit, Bulut, Esen, Beken, Aktas, Demirel, Arcagok, Kazanci, Bingol, Umur, Sik, Isik, Ersoy, Korkmaz, Citak, Mardinoglu, Ozbek and Alanay.)

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey., Methods: The demographic, clinical, biochemical and genotypic characteristics of the CTX patients were reviewed. Data on molecular analysis, age of onset and diagnosis, diagnostic delay, neurologic and extraneurologic symptomatology, results of plasma cholestanol levels, brain magnetic resonance imaging and electromyography at the time of diagnosis were reviewed., Results: 100 confirmed CTX patients from 72 families were included. The mean age at diagnosis was 28.16 ± 14.28 years, and diagnostic delay was 18.39 ± 13.71 years. 36 patients were diagnosed in childhood. Frequency of intention tremor (p = 0.069), peripheral neuropathy (p = 0.234) and psychiatric manifestations (p = 0.396) did not differ between two groups, demonstrating the high rate in pediatric patients. Three adult patients showed a milder phenotype without neurologic involvement. Seven patients had normal plasma cholestanol levels despite neurological impairment. Sequencing of the CYP27A1 gene revealed 25 different variants, with a novel c.671_672del variant not previously described in literature., Conclusion: Based on the observations of this Turkish CTX cohort, it is emphasized that the true prevalence of CTX is probably underestimated and that it has a wide spectrum of clinical phenotypes even without neurological impairment. In children, abnormal cerebellar findings, peripheral neuropathy and psychiatric findings associated with intellectual disability have been suggested as warning signs to avoid diagnostic delay. In cases of clinical suspicion, molecular analysis is recommended despite normal plasma cholestanol levels, as severe neurologic involvement may occur in CTX patients without elevated cholestanol levels., Competing Interests: Declaration of Competing Interest Authors state no conflict of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021. The study examined demographic information, age at diagnosis, age of diagnosis of patients through CF newborn screening (NBS), presenting symptoms, CF transmembrane conductance regulator (CFTR) mutation test results, sputum culture results, weight, height, and body mass index (BMI) z score. Their results were compared with the NCFRT results. The study included 14 pediatric pulmonology centers and 87 patients, consisting of 46 (52.9%) boys and 41 (47.1%) girls. All of the patients were Arab refugees, with 80 (92%) being Syrian. All the patients were diagnosed in Turkey. The median age at diagnosis of patients was 22.33 (interquartile range, 1-258) months. The median age of diagnosis of patients through NBS was 4.2 (interquartile range, 1-12) months. The median age of older patients, who were unable to be included in the NBS program, was 32.3 (interquartile range, 3-258) months. Parental consanguinity was observed in 52 (59.7%) patients. The mutation that was most frequently found was F508del, which accounted for 22.2% of the cases. It was present in 20 patients, constituting 32 out of the total 144 alleles. There was a large number of genetic variations. CFTR genotyping could not be conducted for 12 patients. These patients had high sweat tests, and their genetic mutations could not be determined due to a lack of data. Compared to NCFRT, refugee patients were diagnosed later, and long-term follow-up of refugee CF patients had significantly worse nutritional status and pseudomonas colonization.  Conclusion: Although refugee CF patients have equal access to NBS programs and CF medications as well as Turkish patients, the median age at diagnosis of patients, the median age of diagnosis of patients through NBS, their nutritional status, and Pseudomonas colonization were significantly worse than Turkish patients, which may be related to the difficulties of living in another country and poor living conditions. The high genetic heterogeneity and rare mutations detected in the refugee patient group compared to Turkish patients. Well-programmed NBS programs, thorough genetic studies, and the enhancement of living conditions for refugee patients in the countries they relocate to can have several advantages such as early detection and improved prognosis. What is Known: • Children who have chronic diseases are the group that is most affected by wars. • The outcome gets better with early diagnosis and treatment in patients with Cystic Fibrosis (CF). What is New: • Through the implementation of a newborn screening program, which has never been done in Syria previously, refugee patients, the majority of whom are Syrians were diagnosed with cystic fibrosis within a duration of 4 months. • Despite equal access to the newborn screening program and CF medications for both Turkish patients and refugee patients, the challenges of living in a foreign country have an impact on refugees., (© 2024. The Author(s).)

Aim: To investigate the efficacy and safety of bevacizumab in patients with recurrent low-grade serous ovarian carcinoma. Materials & methods: The data of patients who received at least two cycles of bevacizumab in combination with chemotherapy were retrospectively recorded. Results: The median age of 51 patients was 56 (range: 33-75) years. The complete response rate was 10.4% and the partial response rate was 43.7%. The objective response rate was 54.1%. Median progression-free survival was 15.9 months (95% CI: 9.1-22.6) and median overall survival was 42.5 months (95% CI: 37.2-47.8). Conclusion: Bevacizumab with chemotherapy is an effective option for treating recurrent ovarian low-grade serous carcinoma.

Introduction: In this study, the toxicities and management of palbociclib and ribociclib in older patients (≥65 years) with metastatic breast cancer patients were investigated., Materials and Methods: Among older patients receiving palbociclib and ribociclib, Geriatric 8 (G8) and Groningen Frailty Index were used to evaluate frailty status. Dose modifications, drug withdrawal and other serious adverse events (SAEs) were recorded and analyzed according to baseline patient characteristics., Results: A total of 160 patients from 28 centers in Turkey were included (palbociclib = 76, ribociclib = 84). Forty-three patients were ≥ 75 years of age. The most common cause of first dose modification was neutropenia for both drugs (97% palbociclib, 69% ribociclib). Liver function tests elevation (10%) and renal function impairment (6%) were also causes for ribociclib dose modification. Drug withdrawal rate was 3.9% for palbociclib and 6% for ribociclib. SAEs were seen in 11.8% of those taking palbociclib and 15.5% of those on riboclib. An ECOG performance status of ≥2 and being older than 75 years were associated with dose reductions. Severe neutropenia was more common in patients with non-bone-only metastatic disease, those receiving treatment third-line therapy or higher, coexistance of non-neutropenic hematological side effects (for ribociclib). Neutropenia was less common among patients with obesity., Discussion: Our results show that it can be reasonable to start palbociclib and ribociclib at reduced dose in patients aged ≥75 years and/or with an ECOG performance status ≥2., Competing Interests: Declaration of Competing Interest Authors report no conflicts of interest., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Purpose: To evaluate the delivery time, type of delivery, age at the time of operation, and surgical methods applied in cases of congenital nasolacrimal duct obstruction (CNLDO)., Methods: This study retrospectively included a total of 207 eyes of 160 cases who underwent surgery for CNLDO between February 2012 and April 2021. According to their age at the time of operation, the cases were divided into 0-12, 12-24, 24-36, 36-48 and > 48 months groups. The cases were evaluated as term/preterm according to the delivery time and cesarean section/vaginal delivery according to the type of delivery. The surgical methods applied were examined as probing alone and probing plus silicone tube implantation., Results: Of the cases, 146 (91.2%) were born at term and 14 (8.7%) were born preterm, and there was no statistically significant difference in the silicone tube implantation rates according to the time of delivery. The rate of silicone tube implantation was statistically significantly higher in the vaginal delivery group than in the cesarean section group (p = 0.001; p < 0.01). The rate of silicone tube implantation was higher in those who were older than the age of the operation., Conclusions: Although the rate of those who were born by cesarean section was higher in probing cases, those who required silicone intubation were more common in those who were born vaginally. This suggests that dacryostenosis in the vaginally born cases resulted from a persistent structural and anatomical obstruction despite the presence of a high intrauterine pressure increase and enzymatic lysis., (© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)

Background: Most research on early outcomes in infants with a family history (FH) of autism has focussed on categorically defined autism, although some have language and developmental delays. Less is known about outcomes in infants with a FH of attention deficit hyperactivity disorder (ADHD)., Methods: Infants with and without a FH of autism and/or ADHD, due to a first-degree relative with either or both conditions, were recruited at 5 or 10 months. Three year outcomes were characterised using latent profile analysis (LPA) across measures of cognitive ability, adaptive functioning and autism, ADHD and anxiety traits ( n  = 131). We additionally ran an LPA using only autism and ADHD measures, and the broader LPA in an independent cohort ( n  = 139) and in both cohorts combined ( n  = 270)., Results: A Low Developmental Level + High Behavioural Concerns class had elevated autism, ADHD and anxiety scores, low cognitive and adaptive function, and included all but one child with autism. A Low Developmental Level + Typical Behaviour class had average cognitive ability and typical behaviour but low adaptive function. A Typical Developmental Level + Some Behavioural Concerns class had average cognitive and adaptive function but slightly elevated behaviour scores. A High Developmental Level + Typical Behaviour class had above average cognitive ability and typical behaviour. All four LPAs identified classes characterised by combinations of either, or both, Low Development Level and elevated behaviour scores, as well as a typically developing class. No classes had elevated autism or ADHD traits in isolation., Conclusions: Some infants with a FH of autism or ADHD have atypical developmental and behavioural outcomes, but do not show strong autism or ADHD traits in isolation. The field needs to recalibrate aims and methods to embrace the broader transdiagnostic pattern of outcomes seen in these infants., Competing Interests: TC has served as a paid consultant to F. Hoffmann‐La Roche Ltd. and Servier; and has received royalties from Sage Publications and Guilford Publications. AP receives royalties from Western Psychological Services, Imperial College Press, and OUP. MJ receives royalties from Wiley‐Blackwell, OUP and MIT Press. EJ is a Joint Editor on JCPP Advances. The remaining authors have declared that they have no competing or potential conflicts of interest., (© 2023 The Authors. JCPP Advances published by John Wiley & Sons Ltd on behalf of Association for Child and Adolescent Mental Health.)

Purpose: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment., Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data., Results: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency., Conclusion: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case-control study, which is retrospective in nature, next-generation sequencing (NGS) results obtained from records of 94 pediatric patients with chronic nonspecific diarrhea were reviewed. Demographic characteristics, clinical symptoms and treatment responses of those diagnosed with CSID were evaluated. We identified one new, homozygous frame-shift mutation and 10 other heterozygous mutations. Two cases were from the same family and nine were from different families. While the median age at onset of symptoms was 6 months (0-12), median age at diagnosis was 60 months (18-192) with a median delay of 5 years and 5 months (10 months -15 years and 5 months) in diagnosis. Clinical symptoms included diarrhea (100%), abdominal pain (54.5%), vomiting after consuming sucrose (27.2%), diaper dermatitis (36.3%) and growth retardation (81%). Our clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey. In addition, the frequency of heterozygous mutation carriers was significantly higher than that of homozygous mutation carriers and those with a heterozygous mutations responded well to the treatment.

Vaccination hesitancy (VH) is an important public health issue. The determinants of parental decisions on whether to vaccinate their children are multidimensional and need to be carefully considered in the COVID-19 era. Our study aims to investigate the prevalence of VH among parents, parents’ use of social media, and their attitudes toward the COVID-19 vaccine upon vaccine refusal. Materials and methods: Our participants were the parents of children admitted to hospitals in three different cities in Turkey between September 2021 and December 2021. The parents were asked to complete sociodemographic data and their attitudes toward COVID-19 diseases, the Parental Attitudes Toward Childhood Vaccines (PACV) scale, and the Attitudes Toward COVID-19 Vaccine (ATV-COVID-19) scale. Participants were categorized as “non-hesitant”, with a score of <50, and “hesitant”, with a score of ≥50. Results: A total of 1087 parents with a mean age of 33.66 (SD 9.1) years old participated in the study. VH was noted in 102 (9.38%) parents. Age, gender, education, and income levels did not significantly differ from one another, according to the PACV; however, parents who delayed vaccinating their children and indicated that social media had an impact on vaccination decisions were more hesitant. Parents who were male and had a family member diagnosed with COVID-19 showed more positive attitudes in the ATV-COVID-19. Parents who were hesitant about childhood vaccinations had lower positive attitudes toward the COVID-19 vaccine (2.84 ± 0.97) than parents who were not hesitant (3.77 ± 0.9). A total of 761 (70.14%) parents need more information about childhood immunizations. Conclusion: Parents who are hesitant about childhood immunization programs in Turkey have a less positive attitude toward COVID-19 vaccines and are affected by social media. Parents need information about vaccines, and because the controversy surrounding COVID-19 vaccines can diminish parents’ confidence in routine childhood immunizations, understanding the complex causes behind vaccination hesitancy can help public health policy break through barriers and increase immunization rates.

X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD, using an online 12-question-survey that was sent to 75 metabolic centres in Turkey, France and the UK. Thirty-nine centres responded and 495 patients were reported in total. A total of 208 French patients were reported, including 71 (34%) males, 86 (41%) symptomatic and 51 (25%) asymptomatic females. Eighty-five Turkish patients included 32 (38%) males, 39 (46%) symptomatic and 14 (16%) asymptomatic females. Out of the 202 UK patients, 66 (33%) were male, 83 (41%) asymptomatic and 53 (26%) symptomatic females. A total of 19%, 12% and 7% of the patients presented with a neonatal-onset phenotype in France, Turkey and the UK, respectively. Vomiting, altered mental status and encephalopathy were the most common initial symptoms in all three countries. While 69% in France and 79% in Turkey were receiving protein restriction, 42% were on a protein-restricted diet in the UK. A total of 76%, 47% and 33% of patients were treated with ammonia scavengers in Turkey, France and the UK, respectively. The findings of our audit emphasize the differences and similarities in manifestations and management practices in three countries.

Introduction: Idiopathic intracranial hypertension (IIH) (pseudotumor cerebri) is a rare side effect of all-trans retinoic acid (ATRA). IIH cases have been observed after the concomitant use of ATRA with azole group antimicrobials such as fluconazole and voriconazole. Here, we discuss about the diagnosis and treatment process of the IIH emerging in a young acute promyelocytic leukemia (APL) case with the ATRA impact, which can be increased by posaconazole., Case: A 19-year-old male patient was diagnosed with APL. Headache and blurred vision were developed on the 12 th day of the AIDA (ATRA, 45 mg/m2/day, oral and idarubicin 12 mg/m2, on days 2, 4, 6, 8, intravenous) protocol and posaconazole proflaxis. He was diagnosed IIH along with the existing eye findings and imagings., Management & Outcome: ATRA treatment and posaconazole were interrupted. Systemic acetazolamide and dexamethasone treatment were initiated. After significant clinical response was observed, ATRA treatment was resumed without posaconazole and a similar clinical condition did not recur., Discussion: The combined use of ATRA and azole group drugs increases the risk of developing IIH. Patients with APL who developed IIH during the concomitant use of ATRA and fluconazole or voriconazole have been reported. To the best of our knowledge, our case is the first APL case with a IIH who treated with ATRA-based therapy and used posaconazole. In case of development of side effects, drugs should be interrupted and this combination should be avoided if possible after appropriate approach and clinical improvement.

Background: Paediatric palliative care (PPC) focuses on improving the quality of life of children dealing with life-threatening conditions, as well as their families., Aims: To evaluate the knowledge and attitudes of paediatricians regarding palliative care in Turkey and the impact of PPC units on their confidence and symptom management abilities., Methods: This was a multicentre descriptive study conducted in 2019. A questionnaire consisting of 24 questions and 4 parts on palliative care was prepared. Paediatricians in hospitals with or without PPC units completed the questionnaire. Analyses were performed using NCSS 10 (2015) software., Results: There were 199 participants in the study, out of which 55 (27.6%) received palliative care training. One hundred and sixty-seven (83.9%) paediatricians defined palliative care as improving the quality of life of patients in the terminal period, and 77 (38.7%) stated that palliative care can be started after diagnosis. The groups of patients who would benefit from palliative care were most frequently identified as those with diseases that could not be cured (e.g. cystic fibrosis). Paediatricians with a PPC unit in their work environment, compared with those without a PPC unit, were significantly more competent in pain management (36.8% vs 6.4%, P < 0.001), symptom management (42.1% vs 19.2%, P < 0.001), and coping with the psychosocial problems of end-stage paediatric patients (36.8% vs 8.4%, P < 0.001)., Conclusion: PPC units in hospitals contributed to paediatricians' ability to manage symptoms and communicate with families. The number of PPC units should be increased, especially in developing countries such as Turkey., (Copyright © World Health Organization (WHO) 2022. Open Access. Some rights reserved. This work is available under the CC BY-NC-SA 3.0 IGO license (https://creativecommons.org/licenses/by-nc-sa/3.0/igo).)

Objectives: Gaucher disease type 1 (GD1) and Fabry disease (FD) are the two most common lysosomal storage diseases. For over three decades, effective enzyme replacement therapies (ERTs) have changed the fate of patients and offered a longer chance of survival and improve their quality of life., Methods: The clinical and molecular findings, endocrinological features and metabolic status of 26 patients (16 with FD, and 10 with GD1) were evaluated. The results were compared to age- and gender-matched healthy individuals., Results: Patients with GD1 and FD were followed for 7.2 ± 4.7 and 6.4 ± 4.3 years, respectively. Calcium and magnesium levels in patients with GD1 were lower than in controls (p=0.01; p=0.002). Osteoporosis was detected in 20% (n=2) of GD1 patients and 12.5% (n=2) of FD patients. The HbA1c value of GD1 patients was significantly lower than both in control and Fabry patients (p=0.004; and p=0.007, respectively). There was a negative correlation between LysoGb3 and female gender (p=0.04; r=-0.49), but no correlation was found with any other biochemical parameters. There was a negative correlation between the LysoGb1 level and the neutrophil (p=0.03; r=-0.711) and thrombocyte levels (p=0.02; r=-0.767), and a positive correlation with ferritin levels (p<0.001; r=0.867)., Conclusion: Long time effective ERT seems to have beneficial effects on metabolic and hormonal status as well as primary target organs in both FD and GD1 patients., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype-phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype-phenotype correlation in GSDs.

The aim of this study was to explore the associations between temperamental reactivity and regulation and the emergence of anxiety traits in a longitudinal sample of infants enriched for later ASD. Parents of 143 infants who were at high- and low-risk for ASD rated their child's temperament traits when they were 9, 15 and 24 months old; they rated anxiety and ASD traits when they were 36 months old. The findings suggest that behavioural inhibition may be an early predictor of later anxiety in children with and without ASD and that lower levels of effortful control in children who later develop ASD may contribute to the higher expression of anxiety within this population.

Introduction: Restricted or enhanced intrauterine growth is associated with elevated risks of early and late metabolic problems in humans. Metabolomics based on amino acid and carnitine/acylcarnitine profile may have a role in fetal and early postnatal energy metabolism. In this study, the relationship between intrauterine growth status and early metabolomics profile was evaluated. Materials and Methods: A single-center retrospective cohort study was conducted. Three hundred and sixty-one newborn infants were enrolled into the study, and they were grouped according to their birth weight percentile as small for gestational age (SGA, n = 69), appropriate for gestational age (AGA, n = 168), and large for gestational age (LGA, n = 124) infants. In all infants, amino acid and carnitine/acylcarnitine profiles with liquid chromatography-tandem mass spectrometry (LC-MS/MS) were recorded and compared between groups. Results: LGA infants had higher levels of glutamic acid and lower levels of ornithine, alanine, and glycine ( p < 0.05) when compared with AGA infants. SGA infants had higher levels of alanine and glycine levels when compared with AGA and LGA infants. Total carnitine, C0, C2, C4, C5, C10:1, C18:1, C18:2, C14-OH, and C18:2-OH levels were significantly higher and C3 and C6-DC levels were lower in SGA infants ( p < 0.05). LGA infants had higher C3 and C5:1 levels and lower C18:2 and C16:1-OH levels ( p < 0.05). There were positive correlations between free carnitine and phenylalanine, arginine, methionine, alanine, and glycine levels ( p < 0.05). Also, a positive correlation between ponderal index and C3, C5-DC, C14, and C14:1 and a negative correlation between ponderal index and ornithine, alanine, glycine, C16:1-OH, and C18:2 were shown. Conclusion: We demonstrated differences in metabolomics possibly reflecting the energy metabolism in newborn infants with intrauterine growth problems in the early postnatal period. These differences might be the footprints of metabolic disturbances in future adulthood., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Beken, Abali, Yildirim Saral, Guner, Dinc, Albayrak, Ersoy, Kilercik, Halici, Bulbul, Kaya, Karabay, Ay, Eksi, Benli Aksungar, Korkmaz and Serteser.)

Objectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD., Methods: We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs. Patients who were included in the analysis considering the possible PMD were reviewed retrospectively and scored according to the Mitochondrial Disease Criteria Scale., Results: Sixty-one percent of the patients were diagnosed with whole-exome sequencing (WES) (36/59) and 15% with targeted exome sequencing (TES) (9/59). Patients with MD-related gene defects were included in the mito group, patients without MD-related gene defects were included in the nonmito group, and patients in whom no etiological cause could be identified were included in the unknown etiology group. In 11 out of 36 patients diagnosed with WES, a TES panel was applied prior to WES. In 47 probands in 39 genes ( SURF1, SDHAF1, MTO1, FBXL4, SLC25A12, GLRX5, C19oRF12, NDUFAF6, DARS2, BOLA3, SLC19A3, SCO1, HIBCH, PDHA1, PDHAX, PC, ETFA, TRMU, TUFM, NDUFS6, WWOX, UBCD TREX1, ATL1, VAC14, GFAP, PLA2G6, TPRKB, ATP8A2, PEX13, IGHMBP2, LAMB2, LPIN1, GFPT1, CLN5, DOLK ) (20 mito group, 19 nonmito group) 59 variants (31 mito group, 18 nonmito group) were detected. Seven novel variants in the mito group ( SLC25A12, GLRX5, DARS2, SCO1, PC, ETFA, NDUFS6 ), nine novel variants in the nonmito group ( IVD, GCDH, COG4, VAC14, GFAP, PLA2G6, ATP8A2, PEX13, LPIN1 ) were detected., Conclusions: We explored the feasibility of identifying pathogenic alleles using WES and TES in MD. Our results show that WES is the primary method of choice in the diagnosis of MD until at least all genes responsible for PMD are found and are highly effective in facilitating the diagnosis process., (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)

Children with phenylketonuria (PKU) follow a protein restricted diet with negligible amounts of docosahexaenoic acid (DHA). Low DHA intakes might explain subtle neurological deficits in PKU. We studied whether a DHA supply modified plasma DHA and neurological and intellectual functioning in PKU. In a double-blind multicentric trial, 109 PKU patients were randomized to DHA doses from 0 to 7 mg/kg&day for six months. Before and after supplementation, we determined plasma fatty acid concentrations, latencies of visually evoked potentials, fine and gross motor behavior, and IQ. Fatty acid desaturase genotypes were also determined. DHA supplementation increased plasma glycerophospholipid DHA proportional to dose by 0.4% DHA per 1 mg intake/kg bodyweight. Functional outcomes were not associated with DHA status before and after intervention and remained unchanged by supplementation. Genotypes were associated with plasma arachidonic acid levels and, if considered together with the levels of the precursor alpha-linolenic acid, also with DHA. Functional outcomes and supplementation effects were not significantly associated with genotype. DHA intakes up to 7 mg/kg did not improve neurological functions in PKU children. Nervous tissues may be less prone to low DHA levels after infancy, or higher doses might be required to impact neurological functions. In situations of minimal dietary DHA, endogenous synthesis of DHA from alpha-linolenic acid could relevantly contribute to DHA status.

Background: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS., Case-Diagnosis/treatment: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury. Metabolic screening revealed elevated plasma homocysteine levels, low methionine levels, and methylmalonic aciduria, and the patient was diagnosed as having HUS secondary to Cbl C defect. Additionally, complement factor H (CFH) and complement C3 levels were decreased. The infant was treated with betaine, hydroxycobalamin, and folic acid. After treatment, the homocysteine and methylmalonic acid levels were normalized but hemolysis and acute kidney failure persisted. He required continued renal replacement treatment (CRRT) and plasma exchange due to thrombotic microangiopathy (TMA). Therefore, we considered a second mechanism in the pathogenesis as complement dysregulation and gave eculizumab to the patient. After eculizumab treatment, the renal and hematologic indices improved and he was free of dialysis., Conclusions: To the best of our knowledge, our patient is the first to have Cbl C defect-HUS accompanied by complement dysregulation, who responded well to eculizumab therapy.

In this paper, a brief summary is given about marble quarries in Carrara (Italy) and Iscehisar (Turkey), the Elmeri method is introduced, work accidents that can happen in marble quarries and their causes besides work safety behaviours in fields are explained, and the Elmeri monitoring method is applied and analysed. For this reason, marble quarries are divided into seven in terms of working conditions and active six quarries both in Carrara and Iscehisar areas, and work safety behaviours are analysed. Analysis process is based on True-False method; there are 18 items in total under six main topics; three items on each topic. The safety index for each section and the main topics are also calculated. According to the calculated safety indexes, Carrara area marble quarries (65.08%) are safer than Iscehisar area marble quarries (46.01%).

Cerebral infarction is one of the serious neurological complications of diabetic ketoacidosis (DKA). Especially in patients who are genetically prone to thrombosis, cerebral infarction may develop due to inflammation, dehydration, and hyperviscocity secondary to DKA. A 6-year-old child with DKA is diagnosed with cerebral infarction after respiratory insufficiency, convulsion, and altered level of consciousness. Femoral and external iliac venous thrombosis also developed in a few hours after central femoral catheter had been inserted. Heterozygous type of factor V Leiden and PAI-14G/5G mutation were detected. In patients with DKA, cerebral infarction may be suspected other than cerebral edema when altered level of consciousness, convulsion, and respiratory insufficiency develop and once cerebral infarction occurs the patients should also be evaluated for factor V Leiden and PAI-14G/5G mutation analysis in addition to the other prothrombotic risk factors.

Background: Diabetes mellitus type 1 is the most common endocrine metabolic disorder occurring in childhood and adolescence due to the autoimmune destruction of pancreatic beta cells as a result of various environmental factors interacting with an underlying genetic predisposition. Diabetes is a risk factor for early onset atherosclerosis, and the high mortality rate seen in these patients is partially related to cardiovascular diseases., Objectives: This study was conducted to compare mean platelet volume as a marker of early atherosclerosis with aortic intima-media thickness in children with type 1 diabetes and to identify its correlation with known cardiovascular risk factors., Patients and Methods: The study included 27 patients between age range of 6 and 17 years that were diagnosed with type 1 diabetes and 30 healthy children of the same age range who did not have any chronic disease. In both groups, we used the color Doppler ultrasound to measure children's aortic intima-media thickness and identify their mean platelet volumes., Results: There was no significant difference between the groups regarding gender distribution, age, High-Density Lipoprotein (HDL) and Low-Density Lipoprotein (LDL) cholesterol levels (P > 0.05). Also no significant difference could be documented between the patient and control groups regarding the aortic intima-media thickness and mean platelet volume (P > 0.05). However, there was a significant correlation between aortic intima-media thickness and mean platelet volume (r = 0.351; P < 0.05)., Conclusions: In the present study, there was no evidence of early atherosclerosis in children with type 1 diabetes. However, mean platelet volume having a significant correlation with aortic intima-media thickness may be useful as an early marker of atherosclerosis.

Background: The safety of healthy volunteer donors is one of the most important issues in living-donor liver transplantation. Use of the Pringle maneuver during donor hepatectomy can result in liver ischemia-reperfusion (IR) injury. The objective of this study was to examine the effects of isoflurane and propofol on IR injury caused by the Pringle maneuver during donor hepatectomy., Methods: A total of 70 American Society of Anesthesiology I-II donors aged 18-65 years who underwent hepatectomy were included in the study. The patients were randomly divided into 2 groups: propofol and isoflurane. Plasma superoxide dismutase (SOD), malondialdehyde (MDA), total oxidative status (TOS), total antioxidant capacity (TAC), and oxidative stress index (OSI) were measured before surgery (t0) and after surgery (t1)., Results: There were no statistically significant differences in demographic features, anesthesia, and times of surgery between the groups (P > .05). Plasma TAC levels at t0 and t1 were significantly lower in the propofol group than in the isoflurane group (P < .05). OSI at t1 was significantly higher in the propofol group than in the isoflurane group (P < .05). MDA levels were significantly higher in the propofol group than in the isoflurane group at t0 (P < .05). MDA levels level were significantly higher in the isoflurane group than in the propofol group at t1 (P < .05)., Conclusions: Propofol may have protective effects against IR injury caused by the Pringle maneuver during donor hepatectomy in living-donor transplantations. However, the effectiveness of propofol for clinical use needs to be investigated further., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Objectives: The aim of this study was to investigate the 25-hydroxyvitamin D [25(OH)D] status of children with growing pains and to evaluate the efficacy of vitamin D treatment on the resolution of pain symptoms., Subjects and Methods: One hundred and twenty children with growing pains were included in a prospective cohort study. Serum 25(OH)D and bone mineral levels were measured in all subjects at the time of enrollment. The pain intensity of those with vitamin D deficiency was measured using a pain visual analog scale (VAS). After a single oral dose of vitamin D, the pain intensity was remeasured by means of the VAS at 3 months. The 25(OH)D levels and VAS scores before and after oral vitamin D administration were compared by means of a paired Student's t test., Results: In the 120 children with growing pains, vitamin D insufficiency was noted in 104 (86.6%). Following vitamin D supplementation, the mean 25(OH)D levels increased from 13.4 ± 7.2 to 44.5 ± 16.4 ng/ml, the mean pain VAS score decreased from 6.8 ± 1.9 to 2.9 ± 2.5 cm (a mean reduction of -3.8 ± 2.1, p < 0.001) and the difference was statistically significant., Conclusion: Supplementation with oral vitamin D resulted in a significant reduction in pain intensity among these children with growing pains who had hypovitaminosis D., (© 2015 S. Karger AG, Basel.)

The effects of inlet cobalt(II) concentration (20-60 ppm), feed flow rate (8-19 ml/min) and bed height (5-15 cm), initial solution pH (3-5) and particle size (0.25

Objective: The aim of our study is to compare the effect of ketamine-propofol mixture (ketofol) and propofol on the laryngeal tube-Suction II (LTS II) insertion conditions and hemodynamics., Methods: Eighty American Society of Anesthesiologists class 1 and 2 patients were divided into 2 random groups to receive either 1 µg/kg remifentanil and propofol 2 mg/kg in Group P (n = 40), or 1 µg/kg remifentanil and ketofol (using a 1:1 single syringe mixture of 5 mg/mL ketamine and 5 mg/mL propofol) in Group K (n = 40) before induction of anesthesia. After induction, LTS II was inserted. Heart rate and noninvasive blood pressure were recorded before induction of anesthesia (t0); immediately following induction (t1); immediately after LTS II insertion (t2); and 3 minutes (t3), 5 minutes (t4), and 10 (t5) minutes after LTS II insertion. Conditions of insertion of LTS II were assessed and scored 1 to 3 using 6 variables as follows: mouth opening, swallowing, coughing, head and body movements, laryngospasm, and ease of LTS II insertion by the same experienced anesthesiologist who did not know the agents. LTS II insertion summed score was prepared depending upon these variables., Results: In regard to LTS II insertion summed score, Group K was more favorable than Group P (P < 0.05). Apnea duration was longer in Group P (385.0 seconds [range = 195.0-840.0 seconds]) compared with Group K (325.50 seconds [range = 60.0-840.0 seconds]) but this was not statically significant. The heart rate values were significantly lower at all measurement intervals in both groups compared with the baseline values (P < 0.05). There was no difference in heart rate between Group P and Group K. The mean arterial pressure values were significantly lower at all measurement intervals in Group P compared with baseline values (P < 0.05). In Group K, the mean arterial pressure values were significantly lower at all measurement intervals compared with the baseline values, except t2 (P < 0.05). There was a significant difference between Group P and Group K in terms of mean arterial pressure at t3 (P < 0.05)., Conclusions: We found that ketofol provided better insertion summed score for LTS II than propofol, with minimal hemodynamic changes.

Background and Objectives: Ketamine and propofol are the general anesthetics that also have antimicrobial and microbial growth-promoting effects, respectively. Although these agents are frequently applied together during clinical use, there is no data about their total effect on microbial growth when combined. In this study, we investigated some organisms' growth in a ketamine and propofol mixture., Method: We used standard strains including Escherichia coli, Staphylococcus aureus, Pseudomonas aeruginosa, and Candida albicans in this study. Time-growth analysis was performed to assess microbial growth rates in 1% propofol. Antimicrobial activity of ketamine, alone and in propofol was studied with microdilution method., Results: In propofol, studied strains grew from 10(3)-10(4) cfu/mL to ≥10(5) cfu/mL concentrations within 8-16 hours depending on the type of organism. Minimal inhibitory concentration (MIC) and minimal bactericidal concentration (MBC) (for candida, minimal fungicidal concentration) of ketamine were determined as follows (MIC, MBC): E.coli 312.5, 312.5 μg/mL; S.aureus 19.5, 156 μg/mL; P.aeruginosa 312.5, 625 μg/mL; and C.albicans 156, 156 μg/ml. In ketamine+propofol mixture, ketamine exhibited antimicrobial activity to E.coli, P.aeruginosa and C.albicans as MBCs at 1250, 625 and 625 μg/mL, respectively. Growth of S. aureus was not inhibited in this mixture (ketamine concentration=1250 μg/mL)., Conclusion: Ketamine has sustained its antimicrobial activity in a dose-dependent manner against some organisms in propofol, which is a strong microbial growth-promoting solution. Combined use of ketamine and propofol in routine clinical application may reduce the risk of infection caused by accidental contamination. However, one must keep in mind that ketamine cannot reduce all pathogenic threats in propofol mixture., (Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.)

Objectives: We aimed to compare the effect of remifentanil without muscle relaxant with succinylcholine for intubation in microlaryngoscopy., Patients and Methods: Eighty patients were randomly divided into two groups: Group R (n=40) and S (n=40) received remifentanil 4 µg/kg intravenously or 1 µg/kg respectively. Anesthesia was induced with 2 mg/kg propofol in both groups. Intubation was performed after bolus administration of 10 ml saline as a placebo or 1 mg/kg of succinylcholine in Group R and S respectively. Remifentanil infusion was initiated at 0.025 μg/kg in each groups., Results: Intubation conditions were similar in both groups. The mean arterial pressure (MAP) values at post-induction period were significantly lower in the Group S than in the Group R (p = 0.001). The requirement for ephedrine in Group R was found to be significantly lower than Group S (p = 0.023). Recovery times were significantly shorter (p = 0.001) and recovery scores were significantly higher (p = 0.021) in Group R. Time to patient could respond to commands was significantly longer in the Group S (p = 0.001). The surgeon's satisfaction score was significantly higher in Group R (p = 0.001)., Conclusions: It was concluded that remifentanil without muscle relaxants provides similar intubating conditions as that provided by succinylcholine, and remifentanil is superior to succinylcholine with regard to haemodynamic stability and recovery duration.

Objective: The aim of this study was to assess if perineural administration of dexmedetomidine combined with levobupivacaine increases the duration of the sensory and motor blockade of a sciatic peripheral nerve block in rats., Methods: Forty male Sprague-Dawley rats were randomly divided into 5 experimental groups: Group 1, sham; Group 2, perineural levobupivacaine (0.2 mL of a 0.5% solution) and subcutaneous saline; Group 3, perineural levobupivacaine (0.2 mL of a 0.5% solution) plus dexmedetomidine (20 µg/kg dexmedetomidine) and subcutaneous saline; Group 4, perineural saline and subcutaneous dexmedetomidine; and Group 5, perineural saline and subcutaneous saline. Pain reflexes in response to a thermal stimulus were measured at 0 and 240 minutes after drug administration by using a hot-plate and tail-flick tests. Neurobehavioral status, including sensory and motor functions, was assessed by an investigator who was blinded to the experimental groups every 30 minutes until normal functioning resumed., Results: The sensory and motor blockades of the rats did not increase in the treatment with dexmedetomidine plus levobupivacaine when compared with the treatment with levobupivacaine alone at all the time points (P > 0.05). Compared with rats in Group 2, those in Group 3 showed significantly higher latency times at 30 and 60 minutes in the hot plate test (P < 0.01). At 30 and 60 minutes, the latency times of the rats in Group 3 were longer than those in Group 2 in the tail-flick test (P < 0.01). Furthermore, the durations of the complete sensory and motor blockade were similar when treatment with levobupivacaine plus dexmedetomidine was compared with treatment with levobupivacaine alone., Conclusions: A 20µg/kg dose of dexmedetomidine added to levobupivacaine did not increase the duration of the sensory and motor blockades in rats. However, treatment with dexmedetomidine plus levobupivacaine increased the quality of analgesia in rats.

We compared postoperative hepatic and renal functions and coagulation profiles in living donors undergoing right hepatectomy under isoflurane (n = 40) versus propofol (n = 40) anesthesia. After induction, anesthesia was maintained with isoflurane/air-O2 (group I) or propofol/air-O2 (group P) in addition to remifentanil and atracurium infusion in both groups. Aspartate aminotransferase, alanine aminotransferase, international normalized ratio (INR), activated partial thromboplastin time (aPTT), albumin, total bilirubin, blood urea nitrogen, creatinine, estimated glomerular filtration rate (GFR), platelet count, and hemoglobin levels were measured in the preoperative period, after end of the operation, and on the first, third, fifth and seventh postoperative days (PODs). INR was significantly increased on POD 3 and aPTT on POD 5 in group I compared with group P (P < .05). Albumin level was significantly lower in Group I on POD 1 and 3 (P < .05). GFR was significantly lower on POD 1 in the group I compared with group P (P < .05). The postoperative coagulation, GFR, and albumin values were superior following administration of propofol than isoflurane in donors who underwent living hepatectomy; however, both approaches were clinically safe, with no significant clinical difference., (Copyright © 2013 Elsevier Inc. All rights reserved.)

We compared the effectiveness of three anaesthetic regimens (propofol alone, propofol with remifentanil and sevoflurane alone), with respect to seizure duration and seizure quality in patients undergoing electroconvulsive therapy. Thirty-nine patients underwent a total of 234 electroconvulsive therapy treatments in this prospective, observer blinded, crossover study. Each patient received either propofol 1 mg/kg alone (Group P), propofol 0.5 mg/kg and remifentanil 1 µg/kg (Group R), or sevoflurane alone 6% (Group S) for their initial electroconvulsive therapy session. The patients subsequently received an alternative regimen in their next session, such as from propofol 1 mg/kg alone to propofol 0.5 mg/kg and remifentanil 1 µg/kg, from propofol 0.5 mg/kg and remifentanil 1 µg/kg to sevoflurane alone 6%, or from sevoflurane alone 6% to a continuing alternation between drugs at each session, until their sixth session. Muscle paralysis was achieved with 1 mg/kg succinylcholine. Seizure duration, postictal suppression index, early and midictal amplitude were recorded. The mean motor and electroencephalogram seizure durations were significantly longer in Groups P and R compared to Group S (P <0.001). The postictal suppression index and early and midictal amplitude values were not significantly different among the groups. These findings indicate that the three anaesthetic regimens had similar effects on seizure quality parameters, although sevoflurane was associated with shorter seizure durations than propofol or propofol-remifentanil.

Background: The purpose of the study was to investigate the effect of bolus and the combination of bolus and infusion of ephedrine on maternal hypothermia which are used for treating maternal hypotension under spinal anaesthesia., Patients and Methods: 110 ASA I-II patients who developed maternal hypotension were included into the study. Spinal anaesthesia was performed with 12.5 mg heavy bupivacaine + 15 µg fentanyl. Group I: Ephedrine bolus 5 mg plus ephedrine infusion, Group B: Ephedrine bolus 5 mg plus normal saline infusion. The systolic blood pressure was allowed to range between 20% from baseline values. Ephedrine solution infusion started after hypotension occurred (0.5 mg/minute). The body temperature under 35.5°C was accepted as hypothermia. The newborns' rectal temperature was measured. Moreover, the Apgar scores, umbilical vein-arterial blood gas and acid-base status were evaluated., Results: In Group I, the body core temperatures which were measured at 9, 18, 33, and 39th minutes were significantly higher than Group B (p < 0.05). The prevalence of maternal hypothermia in Group I was significantly lower than the Group B, which were as 65.5% (36/55) and 85.5% (47/55), respectively (p < 0.05). In Group I, the newborn rectal temperatures and the total dose of ephedrine were significantly higher than Group B (p < 0.05). In Group I, the systolic and mean blood pressures were higher than Group B (p < 0.05)., Conclusions: As a result, we found that combined bolus and infusion of ephedrine for treating maternal hypotension prevents maternal and neonatal hypothermia during caesarean section under spinal anaesthesia compared to bolus administrations alone.

Platelet adhesion at sites of cardiovascular injury may facilitate leukocyte deposition. We asked if and how platelets enhance lymphocyte adhesion on different subendothelial matrix protein (SEMP)-coated surface at arterial shear stress. Hirudinised whole blood was subjected to an arterial shear rate (500 s(-1)) in a Cone and Plate(let) analyser (CPA) for 5 minutes using plates coated with bovine serum albumin (BSA), collagen, fibrinogen, von Willebrand factor (vWF), or fibronectin. Platelet and lymphocyte adhesion were monitored by CPA and flow cytometry. Exposure of blood to collagen, fibrinogen, and vWF-coated surfaces induced platelet activation. The most marked effect was seen with collagen-coating, which markedly enhanced the adhesion of all lymphocyte subpopulations compared to BSA-coating. Fibrinogen-coating supported both T and NK cell adhesion, while vWF-coated surface only enhanced NK cell deposition. In contrast, fibronectin enhanced neither platelet activation nor lymphocyte adhesion. Moreover, platelets preferentially facilitated adhesion of large CD4(+) and CD8(+) T cells and NK cells, and of small B cells. Enhanced cell adhesion of larger lymphocytes was associated with elevated platelet conjugation and higher lymphocyte expression of PSGL-1, Mac-1, and CD40L. The enhancement of lymphocyte adhesion was totally platelet-dependent, and was abolished in platelet-depleted blood. Moreover, blockade of the platelet adhesion molecules P-selectin, GPIIb/IIIa, and CD40L attenuated platelet-dependent lymphocyte deposition. In conclusion, platelets support lymphocyte adhesion on SEMP-coated surfaces under arterial shear. The enhancement is selective for large T and NK cells and small B cells.

We compared the effect of two inhalation anesthetics desflurane and isoflurane on postoperative hepatic and renal functions as well as coagulation profiles in living donors undergoing right hepatectomy. This study was performed on 80 patients who were randomly allocated to group D (desflurane, n = 40) or group I (isoflurane, n = 40) after Faculty Ethics Committee approval. After induction, isoflurane or desflurane was used with air/oxygen for anesthetic maintenance. The isoflurane or desflurane concentration was set at one minimum alveolar concentration (MAC). Remifentanil was infused for analgesia as well as cisatracurium. Aspartate aminotransferase (AST), alanine aminotransferase (ALT), international normalized ratio (INR), albumin, total bilirubin, blood urea nitrogen, creatinine, platelet count, and hemoglobin levels were analyzed preoperatively at end of the operation, and on postoperative days (PODs) 1, 2, 3, 5, 7, and 30. Both AST and ALT differed significantly and continually except on POD 30. AST showed significant elevations from the end of the operation to POD 2 and ALT, from the end of the operation to POD 5 in group I compared with group D. INR was significantly higher from the end of the operation to POD 3 in group I and to POD 2 in group D. At the end of the operation as well as on POD 1 and POD 2, INR was significantly increased in group I compared with group D. Albumin level was significantly lower at the end of the operation in both groups, but it was not different. No patient developed hepatic or renal failure. Our study showed better postoperative hepatic tests and INR using desflurane than isoflurane at equivalent doses of 1 MAC in living donors undergoing right hepatectomy., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Children with congenital anomalies such as Goldenhar syndrome affecting the airway can be a problem for the anaesthesiologist. We present the case of an 18 month-old child with Goldenhar syndrome, in whom the ProSeal Laryngeal Mask Airway was successfully used for inguinal hernia surgery.

The aim of this study was to evaluate the effect of a ketamine:propofol combination ('ketofol') for electroconvulsive therapy on seizure activity, haemodynamic response and recovery parameters, and to compare with these with the effects of propofol alone. Twenty-four patients underwent a total of 144 electroconvulsive therapy sessions, allocated in this prospective, double-blind, crossover study. Patients were randomly assigned to receive 1 mg/kg ketofol (0.5 mg/kg propofol plus 0.5 mg/kg ketamine) or 1 mg/kg propofol 1% for anaesthesia induction. Seizure duration and quality, haemodynamic data, recovery parameters and side-effects were recorded and analysed between groups. Both motor and electroencephalography seizure durations in the ketofol group (29 ± 17 and 41 ± 17 seconds, respectively) were similar to that in the propofol group (28 ± 13 and 38 ± 16 seconds, respectively). Postictal suppression index was higher in the ketofol group (89.63 ± 7.88) than in the propofol group (79.74 ± 14.6) (P <0.05). In the ketofol group, heart rate after the seizure ended and mean arterial pressures, recorded at 0 and 5 minutes after the seizure ended, were higher than in the propofol group. Time to obeying commands was longer in the ketofol group (P <0.05). There were no untoward psychological reactions following ketofol. Although no superiority to propofol in terms of seizure duration, haemodynamic or recovery parameters was found, the ketofol mixture selected in our study provided better seizure quality than propofol. We conclude that ketofol can be an alternative strategy to enhance the seizure quality and clinical efficiency of electroconvulsive therapy.

Background: Neuroaxial blockade for ambulatory transurethral resection of the prostate is a well established technique. Patients in this group are often at high risk for perioperative complications from concurrent diseases. The purpose of this study was to compare the elderly patients who received intrathecal fentanyl alone or intrathecal fentanyl plus bupivacaine or epidural anesthesia for transurethral resection of prostate surgery., Material and Methods: Ninety-nine patients were prospectively randomized to receive fentanyl 25 microg (Group F), fentanyl 25 microg plus hyperbaric bupivacaine 2.5 mg (Group BF), or epidural anesthesia adding fentanyl 50 microg (Group E) by combined spinal epidural anesthesia technique., Results: The amount of local anesthetics used until when the sensorial block reached the level of T10 was significantly lower in the Group BF than in the Group E and the Group F (p < 0.001). Maximum level of sensory block was significantly lower in the Group BF than in the Group E and the Group F (p = 0.01). The time elapsed until the sensory block reached T10, the regression of sensory block to L5 level were significantly lower in the Group BF than in the Group E and the Group F (p = 0.005, p < 0.001, respectively). Compared to the basal values, mean arterial pressures were significantly lower in the Group BF than in the Group E and the Group F (p < 0.05). The occurrence of hypotension was significantly lower in the Group BF (9.4%) than in the Group E (18.2%) and the Group F (24.2%)., Conclusions: Intrathecal hyperbaric bupivacaine 2.5 mg plus fentanyl 25 microg administration provides shorter motor block onset time, less local anesthetic usage and adequate hemodynamic stability in elderly patients.

Objective: This paper reports the first-ever description of a clinical eating disorder population from Turkey. The aim of this study was to examine the socio-demographic and clinical characteristics of individuals with diagnosis of eating disorders (IDED) referred to a university psychiatry clinic in Istanbul between 2003 and 2009., Method: The diagnoses and subtype of 111 IDEDs, the referral type to the hospital, setting of treatment, and state of involuntary hospitalization were evaluated by interview and semi-structured questionnaire., Results: The clinical sample included 64 individuals with anorexia nervosa (AN), 38 with bulimia nervosa (BN), and 9 with eating disorder not otherwise specified (EDNOS), including only one male. Younger individuals and those with a lower BMI were significantly more likely to be family referred and hospitalized involuntarily., Discussion: The overall socio-demographic features of the sample are generally consistent with data collected in other communities. However, aspects of the clinical features, referral types of eating disorders and subtypes exhibit some characteristics peculiar to our sample.

Background: Pregabalin has a similar pharmacologic profile to that of its developmental predecessor gabapentin but has shown greater analgesic activity in rodent models of neuropathic pain., Objective: The objective of the study was to compare the effects of 2 different doses of pregabalin and placebo on postoperative pain and morphine consumption., Methods: Ninety patients who underwent abdominal hysterectomy were included in the study and randomly divided into 3 groups in a doubled-blinded manner. They were given 150 mg of pregabalin (group P300, n = 30), 300 mg of pregabalin (group P600, n = 30), or placebo capsules (group C, n = 30) 4 hours before the induction of anesthesia; they received a second dose of the drug 12 hours postoperatively. Morphine consumption, nausea, and vomiting, visual analogue scale-pain intensity (VAS-PI), sedation scores, and dissatisfaction scores were recorded in the postanesthesia care unit (PACU) and at 2, 4, 6, and 24 hours after operation., Results: Morphine consumption at 24 hours was 40.80 (3.42) mg, 33.79 (5.77) mg, and 46.97 (6.67) mg in groups P300, P600, and C, respectively (P < 0.001). VAS-PI scores at movement and at rest in the PACU and at 2, 4, and 6 hours decreased in group P600 (P < 0.01). In the PACU and at 2, 4, and 6 hours, the sedation scores were increased in group P600 compared with the scores in group C (P < 0.001, P < 0.001, P = 0.01, P = 0.006, respectively). Patient satisfaction was higher in group P600 than in group C for all time points (P < 0.001, P < 0.001, P < 0.001, P = 0.001, P < 0.001, respectively). There were no statistically significant differences between the groups for side effects such as nausea, vomiting, and dizziness (P = 0.58)., Conclusions: Pregabalin at a total dose of 600 mg, administered before operation and at 12 hours postoperatively after abdominal hysterectomy, reduced morphine consumption and pain intensity and increased patient satisfaction. No significant differences in side effects were observed between the study groups.