Evaluation of Alfalfa Plants Growth Irrigated with Arsenic Contaminated Water

The natural and anthropogenic process cause arsenic contamination of waters and creates serious environmental problems throughout the world. Due to the alfalfa is an important crop in diverse farming systems, it has been grown almost 33% of Turkey’s cropland. In this experimental study, effect of As on the alfalfa plant growth and As accumulation in the shoot of the alfalfa was determined. The accumulation of As in shoots as well as growth of alfalfa at various As contaminated water was evaluated. Alfalfa plants were grown in a greenhouse on a soil amended with different concentrations of As (control, 0.51.01.52.02.53.04.06.08.0 mg/L). In this study, data of two harvest samples were presented. Experimental results indicated that the irrigation with Ascontaminated water of alfalfa cause dry weight increase compared to control pots. As accumulation in the shoots of alfalfa plant increase with increasing As concentrations in the irrigation waters. As accumulation in the shoots at the 2 nd harvest samples were higher than the 1 st samples. However, As accumulation differences between the 1 st and 2 nd samples decreased when the As concentrations in the irrigation water was higher than 4 mg/L

Multidisciplinary treatment of non-syndromic oligodontia

Oligodontia is the agenesis of 6 or more teeth, excluding third molars. The etiology of congenital absence of teeth is believed to be rooted in heredity or developmental anomalies. The absence of teeth in patients can cause aesthetic, functional, and psychological problems, particularly if the anterior region is involved. This case report describes the multidisciplinary treatment approach toward a patient 17 years of age with non-syndromic oligodontia, with absence of 11 permanent teeth. Genetic counseling revealed non-syndromic, autosomal-recessive-linked oligodontia. The objectives of the first phase of therapy were pre-prosthetic orthodontic space opening for proper positioning of the missing teeth and correction of inter-maxillary relations, as a prerequisite for proper prosthetic restoration. The second phase of therapy was prosthetic restoration of the missing teeth and provision of occlusion with full-mouth porcelain fused to metal crowns and bridges after increasing occlusal vertical dimension by 2 mm

Ozone Therapy and Hyperbaric Oxygen Treatment in Lung Injury in Septic Rats

Various therapeutic protocols were used for the management of sepsis including hyperbaric oxygen (HBO) therapy. It has been shown that ozone therapy (OT) reduced inflammation in several entities and exhibits some similarity with HBO in regard to mechanisms of action. We designed a study to evaluate the efficacy of OT in an experimental rat model of sepsis to compare with HBO. Male Wistar rats were divided into sham, sepsis+cefepime, sepsis+cefepime+HBO, and sepsis+cefepime+OT groups. Sepsis was induced by an intraperitoneal injection of Escherichia coli; HBO was administered twice daily; OT was set as intraperitoneal injections once a day. The treatments were continued for 5 days after the induction of sepsis. At the end of experiment, the lung tissues and blood samples were harvested for biochemical and histological analysis. Myeloperoxidase activities and oxidative stress parameters, and serum proinflammatory cytokine levels, IL-1β and TNF-α, were found to be ameliorated by the adjuvant use of HBO and OT in the lung tissue when compared with the antibiotherapy only group. Histologic evaluation of the lung tissue samples confirmed the biochemical outcome. Our data presented that both HBO and OT reduced inflammation and injury in the septic rats' lungs; a greater benefit was obtained for OT. The current study demonstrated that the administration of OT as well as HBO as adjuvant therapy may support antibiotherapy in protecting the lung against septic injury. HBO and OT reduced tissue oxidative stress, regulated the systemic inflammatory response, and abated cellular infiltration to the lung demonstrated by findings of MPO activity and histopathologic examination. These findings indicated that OT tended to be more effective than HBO, in particular regarding serum IL-1β, lung GSH-Px and histologic outcome

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects: HUMAN MUTATION

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10-12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10-14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10-103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10-49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10-93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10-23 and OR = 3.39, P = 5.2 × 10-82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk

Evaluation of nutritional status in pediatric intensive care unit patients: the results of a multicenter, prospective study in Turkey

IntroductionMalnutrition is defined as a pathological condition arising from deficient or imbalanced intake of nutritional elements. Factors such as increasing metabolic demands during the disease course in the hospitalized patients and inadequate calorie intake increase the risk of malnutrition. The aim of the present study is to evaluate nutritional status of patients admitted to pediatric intensive care units (PICU) in Turkey, examine the effect of nutrition on the treatment process and draw attention to the need for regulating nutritional support of patients while continuing existing therapies.Material and MethodIn this prospective multicenter study, the data was collected over a period of one month from PICUs participating in the PICU Nutrition Study Group in Turkey. Anthropometric data of the patients, calorie intake, 90-day mortality, need for mechanical ventilation, length of hospital stay and length of stay in intensive care unit were recorded and the relationship between these parameters was examined.ResultsOf the 614 patients included in the study, malnutrition was detected in 45.4% of the patients. Enteral feeding was initiated in 40.6% (n = 249) of the patients at day one upon admission to the intensive care unit. In the first 48 h, 86.82% (n = 533) of the patients achieved the target calorie intake, and 81.65% (n = 307) of the 376 patients remaining in the intensive care unit achieved the target calorie intake at the end of one week. The risk of mortality decreased with increasing upper mid-arm circumference and triceps skin fold thickness Z-score (OR = 0.871/0.894; p = 0.027/0.024). The risk of mortality was 2.723 times higher in patients who did not achieve the target calorie intake at first 48 h (p = 0.006) and the risk was 3.829 times higher in patients who did not achieve the target calorie intake at the end of one week (p = 0.001). The risk of mortality decreased with increasing triceps skin fold thickness Z-score (OR = 0.894; p = 0.024).ConclusionTimely and appropriate nutritional support in critically ill patients favorably affects the clinical course. The results of the present study suggest that mortality rate is higher in patients who fail to achieve the target calorie intake at first 48 h and day seven of admission to the intensive care unit. The risk of mortality decreases with increasing triceps skin fold thickness Z-score

Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that results in a predisposition to the growth of multiple tumors in the central nervous system, the peripheral nervous system, and the skin. The clinical manifestations of neurofibromatosis are associated with loss of neurofibromin expression which causes the upregulation of the RAS pathway. Although neurofibromatosis type 1 can be diagnosed based on the National Institutes of Health criteria, sometimes the diagnosis is difficult, in cases where the characteristic features do not develop. Moreover, other RAS-related disorders may present with significantly overlapping clinical features

ARTERIAL OBSTRUCTION IN A KLINEFELTER SYNDROME PATIENT WITH RARE KARYOTYPE (48, XXYY)

Introduction: Klinefelter syndrome, the first described chromosomal abnormality, is characterized with hypergonadotrophic hypogonadism and eunuchoid body habitus. Its prevalence is one in 500-1000 live births. The general abnormalities of Klinefelter syndrome are tall stature, eunuchoid body habitus, gynecomastia, decreased testis volume, sparse facial and pubic hair, personality and behaviourial problems. 47, XXY karyotype is detected in 80% of the patients, 20% of the patients have another numerical chromosomal abnormality among all patients. Classically, the number of extra X chromosomes correlates with more severe clinical findings. While classic Klinefelter syndrome patients (patients with 47, XXY karyotype) are diagnosed during the evaluation of infertility, while patients with karyotypes other than 47, XXY are diagnosed at an earlier period due to prominent clinical features. In this case report we present clinical and laboratory findings of a Klinefelter syndrome patient, who came to our clinic because of hypergonadotropic hypogonadism and tall stature, and was found to have 48, XXYY karyotype on conventional cytogenetic analyse

Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called "attacks". In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population