The Effects of Internal Marketing on Some Job Attitudes: A Study in Private Hospitals in Turkey

Organizations realize that one of their most crucial assets is the employee. This research evaluates internal marketing actions from the employers’ perspective, focusing on effects of internal marketing actions on employers perceptions of the firm. The aim of this study is to state and analyze a proposed model concerned with internal marketing (IM), organizational cynicism (OCY), organizational commitment (OC), job satisfaction (JS), and intention to leave (ITL) amongst Turkish hospital employees. Research data is obtained from those 415 employees working in private hospitals in Mugla, Turkey. The data was analyzed through the SPSS 15.0 and LISREL 8.51 statistical packages and proposed relations are analyzed through Structural Equation Modelling (SEM). The findings supported hypotheses, demonstrating that while IM has positive effects on OC and JS, it has a negative impact on OCY. Moreover, as ITL is affected negatively by OC, it is positively influenced by OCY but no relationship to JS

Genetic Evaluation of Idiopathic Short Stature

Introduction: Short stature is a multifactorial condition causedby both genetic and environmental factors. Genetic causes includechromosomal disorders and diseases inherited by monogenic andmultifactorial inheritance. The purpose of genetic evaluation inshort stature is not only for diagnosis, but also to provide additionalinformation to the patients and their families about prognosis ofthe disease, treatment approaches and genetic counseling.Aim: This study aims to investigate genetic etiology by usingcytogenetic, molecular cytogenetic and next generation sequencingmethods in patients with idiopathic short stature.Patients and Method: In this study, 189 patients, inwhom chronic diseases, hormonal disorders and skeletal dysplasiawere excluded, and diagnosed as idiopathic short stature wereincluded in the study. We did an algorithmic approach for geneticscreening.In the first phase cytogenetic investigations were doneand chromosomal anomalies were excluded. Then SHOX gene deletionswere investigated by fluorescent in situ hybridization andpossible submicroscopic deletions and duplications by a-CGHtechnique. After these evaluation 41patients, found to have normalchromosomal segments, underwent to next generation sequencingof the Ion Torrent platform with 25 gene-containing panelgenetests. Gene panel consisted of 10 genes associated with shortstature (GH1,GHR,GHRH GHSR, IGF1,IGF1R,IGFALS,IGFBP3,SHOX,STAT5B) and 15 genes (POU1F1,PROP1,HESX1,LHX3,LHX4,IGSF1,OTX2,BMP4,SHH,WDR11,FGFR1,FGF8,PROKR2,SOX3,HHIP)associated with isolated or multiple pituitary hormonedeficiency(MPHD)Results: Of the 189 patients with short stature, 16(8.5%) hadchromosomal anomaly,1 had microdeletion in the SHOX genewith FISH examination, and 1 patient had a deletion of 2.7MBin the 5q32 region with a-CGH assay. In five patients, 5 differentvariations were detected (BMP4,GHR, IGSF1, LHX4 and-PROKR2) (one in short stature genes, 4 in MPHD genes). One ofthis mutations was novel, one of them was previously defined and3 of them were found in databases. The changes that were thoughtto be of clinical importance were confirmed by Sanger sequencingmethod. It was shown that 4 heterozygous changes found in thesegregation analysis were also found in the healthy individuals inthe family and in one patient with homozygous change, the parentswere shown to be heterozygous carriers.Conclusion: Short stature for gene panel test was first evaluatedin Turkey. We recommend cytogenetic examination beforemolecular analysis to exclude chromosomal anomalies and microdeletions.Because short stature has a wide genetic spectrum, wethink that the targeted panels are not sufficient. We propose wholeexom or whole genome sequencing analysis with a healthy controlgroup and the index patients and parents

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

© 2022 Elsevier B.V.Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber\"s congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder

Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present clinical, genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessively acting germline alleles p.Arg180Gly and p.Gly183Arg, which are both situated in the FYVE domain of RBSN. We find that these variants abrogate binding to its cognate substrate phosphatidylinositol 3-phosphate (PI3P) and thus prevent its translocation to early endosomes. Although the endosomal recycling pathway was unaltered, mutant p.Gly183Arg patient fibroblasts show accumulation of cargo tagged for lysosomal degradation. Our results suggest that these variants are separation-of-function alleles, which cause a delay in endosomal maturation without affecting cargo recycling. We conclude that distinct germline mutations in RBSN cause non-overlapping phenotypes with specific and discrete endolysosomal cellular defects

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder

Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present clinical, genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessively acting germline alleles p.Arg180Gly and p.Gly183Arg, which are both situated in the FYVE domain of RBSN. We find that these variants abrogate binding to its cognate substrate phosphatidylinositol 3-phosphate (PI3P) and thus prevent its translocation to early endosomes. Although the endosomal recycling pathway was unaltered, mutant p.Gly183Arg patient fibroblasts show accumulation of cargo tagged for lysosomal degradation. Our results suggest that these variants are separation-of-function alleles, which cause a delay in endosomal maturation without affecting cargo recycling. We conclude that distinct germline mutations in RBSN cause non-overlapping phenotypes with specific and discrete endolysosomal cellular defects