Biological reactions to different dental implant surface treatments

The treatment of dental implants that increases surface area and roughness enhances bone-to-implant contact ratio; thus, facilitates the immediate loading of dental implants and fastens the osseointegration process. Structural and functional union of the implant with living bone is strongly influenced by the surface properties of the titanium (Ti) implants. As Ti and its alloys cannot directly bond with living bone, modification of implant surface has been introduced to enhance osseointegration. The biological effect of different methods of surface treatment has been studied in vivo and in vitro experiments. This review outlines the biological aspects and the use of certain surface modifications to control bone-to-implant biological response. In this review, we tried to cover a large number of reported studies related to implant surface treatments. Many of these treatments have been tried in the clinic and showed satisfactory results; therefore, specific recommendation regarding the best biocompatible implant surface treatment was hard to conclud

Prognostic value of B-cell maturation antigen, CD56 expression and neutrophil lymphocyte ratio in patients with multiple myeloma

Introduction: B-cell maturation antigen (BCMA) plays a critical role in regulating B-cell proliferation and differentiation into plasma cells. CD56 is involved in the adhesion of myeloma cells to the bone marrow matrix. Thus, lack of CD56 expression is associated with a higher incidence of extramedullary disease. An elevated neutrophil-lymphocyte ratio (NLR) has been recognized as a poor prognostic factor in various hematological malignancies.The aim of this study was to evaluate the role of BCMA, CD56 and NLR as novel prognostic markers in multiple myeloma (MM).Material and methods: The study included 80 subjects, 40 MM patients, and 40 normal healthy age- and sex-matched controls. BCMA was analyzed by enzyme-linked immune sorbent assay. Flow cytometry was used for the determination of CD56 expression. NLR was calculated from the complete blood count differential count. All patients received six cycles of bortezomib, cyclophosphamide and dexamethasone (VCD). Treatment outcome was assessed and progression-free survival (PFS) was estimated using Kaplan-Meier survival analysis.Results: Patients who achieved complete remission showed lower BCMA levels, positive CD56 expression, and lower NLR. Moreover, higher BCMA levels and CD56 negative expression were significantly associated with shorter PFS.Conclusions: Our study emphasizes the importance of BCMA, CD56 and   NLR to predict the clinical outcome in MM patients. This could help in better risk stratification and tailored clinical management of MM patients

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.

CONTEXT: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We recently characterized a mutation in the leptin gene (p.D100Y), which was associated with detectable leptin levels and bioinactivity of the hormone. CASE DESCRIPTION: We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. In vitro experiments in a heterologous cell system demonstrated that the mutated protein was biologically inactive. Treatment with sc recombinant human leptin led to rapid improvement of eating behavior and weight loss. CONCLUSIONS: Sequencing of the leptin gene may need to be considered in hyperphagic, severely obese children with detectable levels of circulating leptin.This work was supported by Grant BMBF 01GI1120A from the Federal Ministry of Education and Research. Support was also provided by the Wellcome Trust (082390/Z/07/Z), the Medical Research Council, the National Institute for Health Research Cambridge Biomedical Research Centre, the European Research Council, and the Bernard Wolfe Health Neuroscience Fund (all to I.S.F.). J.-B.F. was supported by the International Graduate School in Molecular Medicine Ulm.This is the final version of the article. It first appeared from the Endocrine Society via http://dx.doi.org/10.1210/jc.2015-226

Association of serum paraoxonase enzyme activity and oxidative stress markers with dyslipidemia in obese adolescents

Objectives : The aim of the present study was to investigate the serum paraoxonase 1 (PON1) concentration and oxidative stress markers and assess its relations with the biochemical parameters in obese adolescents. Materials and Methods : One hundred and fifty obese adolescents (range 16-18 years) and 150 healthy age- and sex-matched controls were enrolled in the study. The data were extracted from a project entitled "Obesity among Youth: Lifestyle and Genetic Factors" funded by the Science and Technology Development Fund, Egypt. Serum paraoxonase 1 (PON1), nitric oxide (NO), and malonaldehyde were measured. Anthropometry, fasting glucose, insulin concentrations, total cholesterol, high density lipoprotein-cholesterol, low density lipoprotein-cholesterol, triglycerides, systolic and diastolic blood pressure (BP) were measured. Insulin resistance was determined by Homeostasis Model Assessment of Insulin Resistance (HOMA-IR). Diagnostic accuracy of oxidative markers to identify dyslipidemia was calculated with ROC analysis. Results: The study showed that PON1 activity was significantly lower in obese adolescents than controls. Obese adolescents had significant lower NO level and significant increased MA values as compared to controls. PON1 was negatively correlated with MAD and body mass index in obese subjects. Obese adolescents showed dyslipidemia and increased blood pressure and HOMA-IR values. PON1 had high area under the curve in ROC analysis for identifying dyslipidemia in obese subjects. Conclusions: Our results indicate that obese subjects have increased oxidative stress and decreased PON1 activity. The lower paraoxonase level might contribute to the greater risk of dyslipidemia, insulin resistance, high blood pressure that are considered as important components in the pathogenesis of the metabolic syndrome in obese adolescents

Novel <b><i>AMH</i></b> and <b><i>AMHR2</i></b> Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

International audienceAnti-müllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations in AMH and AMHR2 lead to the persistence of müllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype. The first patient presented at the age of 2 years. Laparoscopic surgery revealed a uterus and fallopian tubes with the presence of 2 gonads, and biopsy and pathology revealed prepubertal testicular tissue showing small-sized tubules with mostly Sertoli cells and very few spermatogonia, edematous stroma, and no detectable ovarian tissue. The second patient presented at the age of 3 years. Laparoscopic surgery revealed a uterus and fallopian tubes, and serum AMH was very low (0.1 ng/mL). Molecular studies revealed a novel missense mutation in the AMHR2 gene in the first patient (c.767A>C; p.H256P) and a novel frameshift mutation in the AMH gene in the second patient (c.203delC; p.L70Cfs*7). We conclude that persistent müllerian ducts should be included in the differential diagnosis of cryptorchidism

A novel mutation in the leptin gene (W121X) in an Egyptian family

Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c.135del3bp, c.398delG and c.481_482delCT). In this study we present a novel homozygous nonsense mutation (W121X) in LEP in a twelve year old obese male and his severely obese sister. As this disorder is treatable with recombinant leptin, it is intriguing to report a novel homozygous nonsense mutation in LEP in two obese children of consanguineous parents. These patients showed features in accordance with leptin deficiency

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

International audienceDisorders/differences of sex development (DSD) comprise a group of congenital disorders that affect the genitourinary tract and usually involve the endocrine and reproductive system. The aim of this work was to identify genetic variants responsible for disorders of human urogenital development in a cohort of Egyptian patients. This three-year study included 225 patients with various DSD forms, referred to the genetic DSD and endocrinology clinic, National Research Centre, Egypt. The patients underwent thorough clinical examination, hormonal and imaging studies, detailed cytogenetic and fluorescence in situ hybridization analysis, and molecular sequencing of genes known to commonly cause DSD including AR, SRD5A2, 17BHSD3, NR5A1, SRY, and WT1. Whole exome sequencing (WES) was carried out for 18 selected patients. The study revealed a high rate of sex chromosomal DSD (33%) with a wide array of cytogenetic abnormalities. Sanger sequencing identified pathogenic variants in 33.7% of 46,XY patients, while the detection rate of WES reached 66.7%. Our patients showed a different mutational profile compared with that reported in other populations with a predominance of heritable DSD causes. WES identified rare and novel pathogenic variants in NR5A1, WT1, HHAT, CYP19A1, AMH, AMHR2, and FANCA and in the X-linked genes ARX and KDM6A. In addition, digenic inheritance was observed in two of our patients and was suggested to be a cause of the phenotypic variability observed in DSD

Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype

Background: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder. It is associated with high prevalence of metabolic risk factors, but little is known about the prevalence of metabolic syndrome (MS) and its components among Egyptian PCOS women. The objective of the study was to determine the metabolic abnormalities among young Egyptian women with PCOS and evaluate their relation with adiponectin gene (ADIPOQ) variants and body fat adiposity pattern. Materials and methods: The present study included 80 PCOS women and 80 healthy women with similar age and body mass index. All participants underwent clinical, anthropometric, biochemical, ultrasonographic and adiponectin (ADIPOQ) gene 11391G>A (rs17300539) examinations. Insulin resistance was assessed by the Homeostatic model assessment for insulin resistance (HOMA-IR). Results: MS was identified in 22.5% of PCOS women. The most prevalent MS components in PCOS women were central obesity, decreased high-density lipoprotein cholesterol (HDL-C), and increased triglycerides (TG), blood pressure (BP) and fasting glucose levels. The study found association between ADIPOQ promoter variants −11391G>A and MS in PCOS women. Moreover, multivariate logistic regression analysis showed association between abdominal fat accumulation and IR in PCOS. Conclusion: The prevalence of MS was significantly higher in PCOS women than controls, and central obesity and hypertension are risk factors for insulin resistance. Moreover, obesity plays a key role in the development of PCOS and ADIPOQ −11391G>A gene variants showed association with MS