Assaults against nurses of general and psychiatric hospitals in Taiwan

Purpose  

Nurses are at risk of occupational assaults. However, the incidence and effects have not been documented among nurses in Taiwan. We aimed to study the incidence of assaults and their effects, including quality of life and job-related stress among nurses.     

Reproducibility and validity of the stair-climb test for fire fighters

Purpose  

A new job-specific test for fire fighters, the stair-climb test (FFstair-climb) was evaluated for reproducibility and validity for use in future workers’ health surveillance.     

Relationship between the serotonin transporter polymorphism and obsessive-compulsive alcohol craving in alcohol-dependent adults: a pilot study

A serotonin deficiency state has been implicated in alcohol-dependent individuals' experience of obsessive-compulsive alcohol craving. Because the serotonin transporter (5-HTT) functions to remove serotonin from the synapse, it is thought that increased reuptake (indicated by the number of high-expressing L_A alleles present in the 5-HTT gene-linked polymorphic region [5-HTTLPR] of the SLC6A4 gene) is associated with an increase in obsessive-compulsive alcohol craving. The current pilot investigation sought to explore this hypothesis by examining the extent to which obsessive-compulsive alcohol craving varies by 5-HTTLPR genotype among participants enrolled in an ongoing pharmacogenetics trial. All participants were screened with a semi-structured diagnostic interview, completed self-report measures of alcohol-related behavior, and underwent peripheral venous blood draw for DNA genotyping. Cross-sectional data obtained at baseline from 176 currently drinking alcohol-dependent individuals were analyzed using multiple regression. Preliminary findings suggest that 5-HTTLPR is not predictive of Obsessive Compulsive Drinking Scale total and factor scores. Although the 5-HTTLPR polymorphism was not related to obsessive-compulsive alcohol craving in this pilot study, additional research is needed to clarify the possible role of serotonergic mechanisms in alcohol craving.     

Defining malnutrition: Mission or mission impossible?

ObjectiveAlthough screening for malnutrition in health care has expanded enormously, a gold standard for the optimal definition and operationalism of malnutrition is still lacking. This report reflects expert opinions on the elements of the definition and operationalism of malnutrition and is meant to trigger further debate within the nutritional societies.MethodsA Delphi study was performed consisting of three phases. After a literature review (phase 1), questions for a semistructured interviews (phase 2) were formulated. Subsequently, the results of these semistructured interviews were used to develop the final list of elements (for defining and operationalism of malnutrition). In phase 3 (final phase), experts were asked to provide written feedback regarding the ranking of elements concerning the importance of these elements.ResultsTwenty-two experts (response 73.3%) were included in the final phase of this Delphi study. No overall agreement could be reached. The elements deficiencies of energy or protein and decrease in fat-free mass were most often mentioned to be particularly important in defining malnutrition. Elements mentioned to be important in operationalism of malnutrition were involuntary weight loss, body mass index, and no nutritional intake. Opinions on cutoff points regarding these elements differed strongly among experts.ConclusionThis study shows that there is no full agreement among experts on the elements defining and operationalism of malnutrition. The results of this study may fuel the discussion within the nutritional societies, which will most ideally lead to an international consensus on a definition and operationalism of malnutrition.     

Turner syndrome in a mother and daughter: r(X) and fertility

A patient with mosaic Turner syndrome and normal fertility had three documented pregnancies. She had a 45,X/46,X,r(X) karyotype and did not undergo spontaneous sexual maturation and menarche. Conception occurred while on hormone replacement therapy. Her first pregnancy ended with the birth of a normal 46,XY male, while the third pregnancy resulted in a healthy 45,X/46,X,r(X) female. A review of the literature reveals a myriad of theories to account for the variability of ovarian function in Turner syndrome, but, as yet, there are insufficient data to yield any conclusions. There appears to be an increased risk of trisomy 21 in the offspring of females with Turner syndrome.     

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

PurposeHaploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS.MethodsWe report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12. We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status.ResultsThe expressivity of most clinical features in STISS is highly variable. In addition to previously reported DD/ID, speech delay, cardiac and renal anomalies, we also confirmed preaxial hand abnormalities as a feature of this syndrome. Of note, 2 patients also showed chilblains resembling signs observed in interferonopathy. Remarkably, our data show that STISS patient cells exhibit a profound remodeling of the mTORC1 and mitophagy pathways with an induction of type I interferon-stimulated genes.ConclusionWe refine the phenotype of STISS and show that it can be clinically recognizable and biochemically diagnosed by a type I interferon gene signature.     

Philadelphia-like translocation t(9;22)(q34;q11) found in a follicular lymphoma involving not BCR and ABL but IGL-mediated rearrangement of an unknown gene on 9q34

In a case of follicular center cell lymphoma (FCCL) without evidence of histologic progression towards a high-grade lymphoma, t(9;22)(q34;q11) was found simultaneously with a t(14;18)(q32;q21) and a t(8;14)(q24;q32). Molecular studies of this case showed BCL2 and MYC rearrangements in addition to the rearrangements of immunoglobulin heavy (IGH) and lambda (IGL) loci. Investigation of the t(9;22) using Southern blot and RT-PCR analysis failed to detect M-bcr or m-bcr rearrangements of BCR. Two-color fluorescence in situ hybridization (FISH) with ABL and BCR probes revealed presence of a “fusion” signal, but its atypical localization [der(9)] and gene order [cen-ABL-BCR-tel] indicated that this translocation differed from the t(9;22) in chronic myeloid leukemia and did not involve either ABL or BCR. In addition, further FISH analysis using 9q34- and 22q11-specific probes localized the breakpoint on chromosome 9 distal to the NOTCH1 gene and the breakpoint on 22q11 in the IGL gene cluster. These results indicate an IGL-mediated rearrangement of an unknown gene at 9q34 that together with BCL2 and MYC might be involved in the lymphomagenesis of the present case of FCCL and perhaps in other cases of non-Hodgkin lymphoma in which t(9;22) is sporadically occurring. Genes Chromosomes Cancer 20:113–119, 1997. © 1997 Wiley-Liss, Inc.     

Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas

To determine whether a tumor suppressor gene of importance to epithelial ovarian cancer resides on the X chromosome, we examined loss of heterozygosity (LOH) in 123 epithelial ovarian cancer cases. In 54 such cases, we examined LOH at 26 loci on the human X chromosome. In eight cases, we examined LOH in 14 loci and in 61 cases we examined LOH in 13 loci. Matched DNA samples from tumors and corresponding normal tissues were analyzed by polymerase chain reaction (PCR) amplification of microsatellite markers. Frequent losses were found in epithelial carcinomas at the Xq25-26.1 region, including DXS1206(34.5% loss in informative cases), DXS1047(27.7%), HPRT(24.1%), and DXS1062 (33.3%). The minimum overlapping region of LOH was approximately 5 megabases (Mb), flanked by DXS1206(Xq25) and HPRT(Xq26.1). The methylation status of the remaining allele of the androgen receptor gene in the tumors exhibiting LOH at the Xq25-26.1 region suggested that the loss was exclusively in the inactive X chromosome. We next determined whether a significant relationship exists between Xq LOH and other parameters, including histologic grade and/or clinical stage of the tumors and LOH at TP53. The Xq LOH had a significant association with grade 2 to 3 tumors at stages II to IV. Sixteen of 18 cases that showed Xq LOH revealed LOH at the TP53 locus, and 45% of tumors exhibiting LOH at TP53 showed Xq LOH. These results suggest that there may be a tumor suppressor gene or genes which escape inactivation of the X chromosome at Xq25-26.1, and that the loss of the gene(s) at Xq25-26.1 is frequently accompanied by loss of the TP53 or loss of another gene on chromosome 17. These losses may contribute to the progression from a well-differentiated to a more poorly differentiated state or to metastatic aggressiveness. Genes Chromosomes Cancer 20:234–242, 1997. Published 1997 Wiley-Liss, Inc.