The binomial sequence spaces of nonabsolute type

Abstract In this paper, we introduce the binomial sequence spaces b 0 r , s $b^{r,s}_{0}$ and b c r , s $b^{r,s}_{c}$ of nonabsolute type which include the spaces c 0 $c_{0}$ and c, respectively. Also, we prove that the spaces b 0 r , s $b^{r,s}_{0}$ and b c r , s $b^{r,s}_{c}$ are linearly isomorphic to the spaces c 0 $c_{0}$ and c, in turn, and we investigate some inclusion relations. Moreover, we obtain the Schauder bases of those spaces and determine their α-, β-, and γ-duals. Finally, we characterize some matrix classes related to those spaces

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

LEPR deficiency: Prevalence and importance of a novel mutation and significant genetic variants, usually underestimated [Leptin reseptör eksikliğinde tespit edilen yeni bir mutasyon ile göz ardı edilen genetik varyantların önemi ve prevalansı]

Objevtice: Diagnostic testing for leptin receptor deficiency, a rare cause of obesity, should be performed in cases where it may affect the clinical management. Therefore, molecular tests are required to grant a conclusive diagnosis. In this study, the clinical utility of molecular testing and the importance of genetic counselling resulting from all the genetic variants, including both, disease-causing mutations and polymorphisms has been outlined. Material andMethods: The study consisted of samples of leukocyte-DNA in sixteen clinically deficient patients of leptin receptor. In order to identify the molecular basis, the LEPR gene sequencing was employed using next-generation sequencing platform(MiSeq System, Illumina) for all the exons, introns and exon-intron binding regions. In-silico analyses for novel mutations were carried out using SIFT, Polyphen2 and Mutation Taster. Paternal carrier testing was also accomplished. Results: The causative mutation was identified in three out of sixteen patients with leptin receptor deficiency (18.75%). All these three patients carried the same, novel, homozygous p.P639L (c.1916C>T) mutation. Most interestingly, 62.5% of the patients (n=10) were found to be carrying at least one of the possible disease-risk-polymorphisms related to obesity, increased body mass index, insulin resistance and glucose intolerance. Conclusion: This study presented with two important outcomes. First, the novel p.P639L mutation could be identified in three different patients and, second, but most important, the fact that polymorphisms of the leptin receptor gene, usually underestimated, is the main genetic predisposition factor for the Turkish population. It is, therefore, critical to identify not only the mutations but all the genetic variants responsible for leptin receptor deficiency, to aid in diagnosis, prevention, prognosis, treatment, and research. © 2018 by Turkish Journal of Endocrinology and Metabolism Association.Firat University Scientific Research Projects Management Unit: TAY-2016-4020To summarize, the availability of molecular genetic testing has profound implications for the clinicians, patients and their families. The benefits of genetic testing can be utilized for the diagnoses including the presymptomatic diagnosis and screening, prevention, treatment, prognosis, and research. However, a challenge still exists in the field of genomics that when potential novel genes/mutations/polymorphisms or phenotypes are detected, large group studies, functional studies, and model systems are needed. At the last place, even if a disease is monogenetic as in case of LEPR deficiency, results will still outcome as non-diagnostic or only about susceptibility due to possible defects on other genes or the epigenetic factors such as DNA methylation and histone modification, or epistasis. In this study, a novel mutation, which is a disease-causing mutation, was identified in three different patients. The compound homo/heterozygosity for the polymorphisms was also determined that has helped in a better understanding of its association with obesity, increased body mass index, insulin resistance, and the glucose intolerance. While allelic heterogeneity can result in varying phenotypic severity, phenotypically identical disorders can also have an entirely different genetic basis (genocopy). It is, therefore, critical to identify the mutation/polymorphism-associated risks by molecular analysis. It is also important not to underestimate the disease associated polymorphisms that has to be specified in genetic testing reports. Acknowledgement: We sincerely thank the patients and the families that have enrolled. We also recognize the contribution of our laboratory staff for their considerable efforts in providing comprehensive testing. This work was supported by the grants from the Cukurova University Scientific Research Projects Coordination Unit (TAY-2016-4020), Adana, Turkey. Source of Finance: During this study, no financial or spiritual support was received neither from any pharmaceutical company that has a direct connection with the research subject, nor from a company that provides or produces medical instruments and materials which may negatively affect the evaluation process of this study

A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

PubMedID: 27267957[No abstract available

A novel GH1 functional mutation in a family with isolated growth hormone deficiency

[No abstract available

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene

PubMedID: 30072168Background: X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels, and clinically by extracellular bacterial infections which mainly compromise the respiratory tract. We aimed to analyze the clinical, immunological and genetic characteristics of 22 male children with XLA. Methods: Twenty-two children with XLA from 12 unrelated families were enrolled in this study. Clinical and demographic features of patients, serum immunoglobulin levels, percentage of B cells and BTK gene mutations were reviewed retrospectively. Results: We identified 12 different mutations in 22 patients from 12 unrelated families. The most frequent type of mutation was premature stop codon (33.3%). Ten mutations had been reported previously including three missense mutations (c.1774T>C, c.1684C>T, c.83G>T), three premature stop codons (c.1558C>T, c.1573C>T, c.753G>A), two splice-site (c.683-1G>A, c.1567-12_1567-9delTTTG) and two small nucleotide deletions (c.902-904_delAAG, c.179_181delAGA). Two novel mutations of the BTK gene were also presented and included one splice-site mutation (c.391+1G>C) and one premature stop codon mutation (c.1243_1243delG). Six out of 12 mutations of the BTK gene were located in the SH1 domain, two in the PH domain, two in the SH3 domain and two in the SH2 domain. Three patients had a history of severe infection before diagnosis. We did not identify any correlation between severity of clinical symptoms and the genotype. Conclusions: Our results show that mutations in southeast Turkey could be different from those in the rest of the world and molecular genetic tests are an important tool for early confirmed diagnosis of XLA. © 2018 SEICA

Hyperphosphatemic familial tumoral calcinosis in two siblings with a novel mutation in GALNT3 gene: Experience from southern Turkey

PubMedID: 30015621Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages of 2-13 years, diagnosis is usually delayed until adulthood. Some individuals with the same genetic defect develop a condition named hyperphosphatemic hyperostosis syndrome. Herein we report two siblings suffering from periarticular, warm, hard and tender subcutaneous masses. Subcutaneous calcifications were present on X-ray and biopsy results were consistent with calcinosis in both patients. Laboratory results showed marked hyperphosphatemia and elevated renal tubular phosphate reabsorption rates, normal renal function tests and normal serum 25-hydroxyvitamin D levels. Thus, we suspected HFTC and performed next generation sequencing for the GALNT3 gene, reported as the most frequent cause. A novel homozygote P85Rfs*6 (c.254_255delCT) mutation in GALNT3 was identified in both siblings. Our report adds two new patients to the literature about this rare genetic disease and suggests that small deletions in the GALNT3 gene may be related with HFTC phenotype. © 2019 by Turkish Pediatric Endocrinology and Diabetes Society

Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients

PubMedID: 31773638Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of defects in the structure and in the function of neuromuscular junctions. Molecular genetic diagnosis is important to select the most suitable therapeutic option and treatment. Eight patients with congenital myasthenic syndromes who presented to the Çukurova University Pediatric Neurology Department Outpatient Clinic between June 2015 and May 2018 were reviewed. Mutations in the acetylcholine receptor (subunits in epsilon) (CHRNE) in three and mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) gene in five patients were identified; p.W148 mutation was detected to be homozygous in four, c.1169A > G novel mutation in COLQ gene was homozygous in one, c452_454delAGG mutation was homozygous in the other patient, IVS7 + 2T > C(c.802 + 2T > C) mutation was homozygous in a patient and compound heterozygous mutations of c.865C > T(p.Leu289Phe) and c.872C > G(p.A2916)(p.Arg291Gly) in the CHRNE gene in the last patient. The parents of all the evaluated patients were consanguineous. Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness, and respiratory crisis were the main findings at the time of presentation. Pyridostigmine is the first-line drug therapy in primary AChR deficiency. Beta adrenergic agonists, ephedrine, and albuterol are the other treatment options for CMS subtypes caused by mutations in COLQ. This study points out the genetic and phenotypic features of CMS patients in the Turkish population and it also reports previously unreported mutations in the literature. CHRNE and COLQ gene mutations are common in the Turkish population. Patients can get serious benefits and recover after the treatment. The treatment should be planned according to genetic tests and clinical findings. © 2019, Belgian Neurological Society