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PubMed1991

Staff perceptions of their work environment before and six months after an organizational change.

The Insel and Moos' Work Environment Scale (WES) was used to assess the impact that an organizational change would have on the nursing staff perceptions of the work environment. A comparison of before and after the supervisory change indicated that middle management supervisors have little influence on the work environment, since there was essentially no change in any of the WES scales. The working environment showed little cohesion among staff members, the focus on autonomy and self-sufficiency was average, but there was strong pressure to keep up with the never-ending work load, the staff perceived the setting as poorly organized and inefficient, they were unclear as to expectations about rules and procedures, and there was a high degree of control over the workers. An organizational change may not be the answer to the problems if the problems have more to do with the corporate philosophy. It may be time to look at mechanisms that create working environments in which employees actually feel their work is an important contribution to the organization.

Humans↗

PubMed1989

Withdrawal emergent syndrome in an infant associated with maternal haloperidol therapy.

Withdrawal emergent syndrome (WES) is a subtype of tardive dyskinesia that has been reported in children who were taken off antipsychotic therapy. We present the first case of WES in an infant born to a mother taking haloperidol during her pregnancy. The infant developed repeated tongue thrust, abnormal hand posturing, and tremor of all extremities. Most symptoms resolved within several days, but tongue thrust continued until 6 months of age.

Adult↗

PubMed2025

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Senataxin, an RNA/DNA helicase, is a key protein providing genome stability and one of the best characterized R-loop-binding factors playing an important role in transcription and DNA repair processes. Pathogenic SETX gene variants cause autosomal recessive spinocerebellar ataxia with axonal neuropathy (AOA2, MIM #606002) and autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4, MIM #602433), rare neurodegenerative disorders characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, combined upper and lower motor neuron symptoms, and increased serum alpha-fetoprotein (AFP; specific for AOA2). We report two cases of adult patients presenting with cerebellar syndrome, scanned speech, and exercise intolerance which started in the second/third decade of life and were followed by muscle weakness and impaired gait coordination. Whole exome sequencing (WES) was performed to analyze single nucleotide and copy number variants. A decreased coverage of a genomic region of around 16 kb on chromosome 9 (chr9:132,295,852-132,311,876), suggesting a deletion encompassing 5 exons of the SETX gene (exons 11-15, NM_015046.7) was observed. This homozygous SETX (9q34.13) deletion leads to a frame shift and consequently truncation of the helicase domain in the protein. Loss-of-function variants in the SETX gene are known to be pathogenic. Statistical analysis of NGS data from the Polish population identified a few heterozygous carriers, suggesting its region-specific origin.

Humans↗

PubMed2024

Genetic analysis of partial duplication of the long arm of chromosome 16.

BACKGROUND: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. The dosage-sensitive genes associated with partial trisomy are not disclosed preventing to establish a genotype-phenotype correlation. METHODS: We report a case of a Chinese patient diagnosed with GDD and an abnormal facial shape, who was found to have partial trisomy 16 through karyotyping and high-throughput sequencing analysis. Karyotype and CNV tracing analyses were also conducted on the biological parents of the patient to assess for any chromosomal structural abnormalities. Additionally, we included 29 patients with pure partial trisomy 16q, reported in the DECIPHER database and the literature. We and performed a genotype-phenotype correlation analysis. RESULTS: The proband, a 2-year-old female, was found to have a de novo 21.96 Mb duplication located between 16q12.1q22.1, with no other deletions observed on other chromosomes, indicating a pure partial trisomy of 16q. Through genotype and phenotype analysis of 29 individuals, we found that patients with the duplicated region located at the distal region of 16q may exhibit more severe symptoms than those with duplication at the proximal region; however, no relationship was identified between phenotype and the size of the duplicated segment. CONCLUSION: We report, for the first time, a patient with partial trisomy 16q validated by multiple genetic tests, including CNV-seq, whole exome sequencing (WES), and karyotyping. It is speculated that partial trisomy of 16q may be associated with continuous gene duplication. However, functional studies are necessary to identify the causative gene or critical region linked to duplication syndrome of chromosome 16q.

Child, Preschool↗

PubMed2026

Clonal Hematopoiesis and Incident Heart Failure.

IMPORTANCE: Clonal hematopoiesis of indeterminate potential (CHIP), the age-related clonal expansion of hematopoietic cells with acquired preleukemic variants, has been associated with cardiometabolic diseases, including heart failure (HF). However, prior studies have lacked power to examine less common CHIP driver variants and have not investigated potential mediators of the CHIP-HF association. OBJECTIVE: To test whether specific CHIP subtypes are associated with incident HF and determine the extent to which CHIP-associated comorbidities mediate this association. DESIGN, SETTING, AND PARTICIPANTS: This was a UK Biobank prospective population-based cohort study of community-dwelling adults in the UK, with enrollment from 2006 to 2010 and follow-up through 2020. Included were participants with whole-exome sequencing (WES) and without prevalent HF, hematologic malignancy, or other CHIP-associated comorbidities (coronary artery disease [CAD], atrial fibrillation [AF], type 2 diabetes [T2D], or chronic kidney disease [CKD]) at baseline. Study data were analyzed from April through October 2025. EXPOSURES: Presence of CHIP and gene-specific CHIP subtypes (DNMT3A, non-DNMT3A, TET2, ASXL1, JAK2, DNA damage repair genes, and spliceosome genes). Mediation analyses examined CHIP-associated comorbidities (CAD, AF, T2D, and CKD). MAIN OUTCOMES AND MEASURES: The primary outcome was incident HF. Cox regression tested associations of CHIP and CHIP subtypes with incident HF, adjusted for age, sex, race, and cardiovascular risk factors. RESULTS: Among 417 616 participants (mean [SD] age, 56.1 [8.1] years; 234 868 female [56.2%]), 7183 (1.7%) developed incident HF over a median (IQR) of 11.1 (10.4-11.8) years of follow-up. CHIP was associated with HF risk (adjusted hazard ratio [aHR], 1.27; 95% CI, 1.15-1.40; P < .001), driven by non-DNMT3A subtypes (aHR, 1.52; 95% CI, 1.33-1.75; P < .001), including associations with TET2, ASXL1, JAK2, and spliceosome CHIP. DNMT3A CHIP was more modestly associated with HF (aHR, 1.15; 95% CI, 1.00-1.31; P = .04). In mediation analyses, development of CAD, AF, T2D, and/or CKD collectively accounted for 28.2% of the association (95% CI, 11.6%-45.4%; P = .001) between non-DNMT3A CHIP and HF. CONCLUSIONS AND RELEVANCE: Results of this cohort study suggest that CHIP, especially non-DNMT3A CHIP, was associated with incident HF. Other CHIP-associated comorbidities explained only a minority of the association between non-DNMT3A CHIP and HF. These findings suggest that CHIP is an HF risk factor and potential therapeutic target.

Adult↗

PubMed2026

Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

Colombia is one of the most genetically diverse populations in Latin America, and its demographic process has promoted the persistence and local enrichment of deleterious alleles, increasing the frequency of autosomal recessive disorders, particularly in semi-isolated Andean populations such as the Eje Cafetero. However, exome-based reference data from this region remain scarce, limiting ancestry-aware variant interpretation and carrier screening strategies. We aimed to characterize the ancestry proportions of this population using exome data, and to estimate the carrier frequency and distribution of pathogenic and likely pathogenic (P/LP) variants in clinically relevant recessive genes. We conducted a cross-sectional study with whole-exome sequencing (WES) in 316 unrelated individuals from the Colombian Eje Cafetero. P/LP variants were evaluated in 454 genes associated with autosomal recessive disorders. The global ancestry proportions were estimated using a validated panel of 250 exome-compatible ancestry-informative markers. Carrier frequencies were compared against Non-Finnish Europeans (NFE) and Admixed Americans (AMX) from gnomAD v4. The cohort showed predominant European ancestry (mean 51%), followed by Native American (36%) and African (13%) components. We identified 151 carriers of 89 distinct pathogenic variants across autosomal recessive genes. The most frequent variants were SERPINA1 c.863A>T (5.5%), CFTR c.1210-11T>G (3.5%), and PYGM c.1094C>T (1.5%). Also, recurrent variants were significantly enriched compared with both NFE and AMX populations, supporting regional founder effects. This study represents one of the most comprehensive exome-based genetic characterizations of the Colombian Eje Cafetero, revealing ancestry-specific enrichment of clinically relevant autosomal recessive variants driven by founder effects.

Female↗

PubMed1984

Preparative dual-beam sorting of the human Y chromosome and in situ hybridization of cloned DNA probes.

Bivariate Hoechst/chromomycin flow karyotypes for chromosomes from a Chinese hamster-human hybrid cell line (CH-Y-VII) were established that have retained a human Y chromosome. These bivariate flow karyotypes showed the human Y chromosome to be completely separated from the peaks for the Chinese hamster chromosomes. In preparative dual-beam sorting experiments, 3 X 10(6) chromosomes were sorted from the Y peak into frozen petri dishes. An examination of Q-banded samples of sorted chromosomes revealed that 82% +/- 5% of them were human Y chromosomes. The DNA from the sorted chromosomes (approximately 250 ng) was isolated and used to establish a genomic library (vector lambda gt WES. lambda B). Three clones (YACG 45, 52, 54) of this library containing inserts of repetitive human DNA were used for chromosomal localization by means of in situ hybridization to metaphase spreads of male human lymphocytes and of CH-Y-VII cells. In all three cases, a significant binding to the human Y chromosome was observed. A more detailed study of the chromosomal distribution of sequences homologous to the insert of YACG 45 suggested the existence of minor binding sites on several human autosomes. Southern blot analysis revealed the existence of other human specific sequences without Y chromosome specificity.

Animals↗

PubMed2006

Culturing in vitro produced blastocysts in sequential media promotes ES cell derivation.

Embryonic stem (ES) cell lines are routinely derived from in vivo produced blastocysts. We investigated the efficiency of ES cells derivation from in vitro produced blastocysts either in monoculture or sequential culture. Zygotes from hybrid F1 B6D2 mice were cultured in vitro to the blastocyst stage in Potassium (K(+)) simplex optimised medium (KSOM) throughout or in KSOM and switched to COOK blastocyst medium on day 3 (KSOM-CBM). Blastocysts were explanted on a feeder layer of mitomycin C-inactivated murine embryonic fibroblasts (MEF) in TX-WES medium for ES cell derivation. Sequential KSOM-CBM resulted in improved blastocyst formation compared to KSOM monoculture. ES cells were obtained from 32.1% of explanted blastocsyts cultured in KSOM-CBM versus 18.4% in KSOM alone. ES cell lines were characterized by morphology, expression of SSEA-1, Oct-4 and alkaline phosphatase activity, and normal karyotype. These results indicate that in vitro culture systems to produce blastocysts can influence the efficiency of ES cell line derivation.

Animals↗

PubMed2005

Morbid obesity and the transition from welfare to work.

This paper utilizes a rich longitudinal data set--the Women's Employment Study (WES)--to investigate whether obesity, which is common among women of low socioeconomic status, is a barrier to employment and earnings for current and former welfare recipients. We find that former welfare recipients who are both White and morbidly obese have been less successful in transitioning from welfare to work. These women are less likely to work at any survey wave, spend a greater percentage of months between waves receiving cash welfare, and have lower monthly earnings at each wave. The magnitude of the difference in labor market outcomes between the morbidly obese and those who are less heavy is in some cases similar in magnitude to the differences in these labor market outcomes between high school dropouts and graduates. In contrast, we find no such labor market differences associated with morbid obesity for African-American respondents. This paper documents the relationship between weight and labor market outcomes for the first time among the welfare population. In addition, it investigates whether the correlation for White females is due to unobserved heterogeneity. We find that after controlling for individual fixed effects, the point estimate of the correlation of morbid obesity and each of the labor market outcomes falls considerably and is no longer statistically significant. These results are consistent with unobserved heterogeneity causing the correlation between morbid obesity and labor market outcomes. Findings are similar after controlling for the respondent's mental and physical health.

Black People↗

PubMed2026

Successful Live Birth Following Treatment of Persistent Endometrial Dysbiosis and Recurrent Chronic Endometritis: A Case Report.

CASE: To study the cause of recurrent endometritis, which recurred after standard antibiotic therapy, we report the case of a 40-year-old woman with a history of recurrent pregnancy, preterm birth, and CE. The endometritis recurred following a standard antibiotic regimen. OUTCOME: Microbiome analysis via 16S rRNA gene sequencing revealed persistent dysbiosis in both vaginal and endometrial samples despite antibiotic regimens. Whole-exome sequencing (WES) identified rare variants in TRPV3 and CD36, potentially associated with epithelial barrier dysfunction. Following an extended course of antibiotic therapy, the woman gave birth to a healthy baby at GA 32 weeks. CONCLUSIONS: This case highlights the possibility that barrier gene variants may be associated with persistent endometrial dysbiosis and recurrence of CE. An intensive antibiotic regimen may help achieve a viable pregnancy in patients with recurrent CE following standard antibiotic therapy.

antibiotics↗

PubMed2005

Domestic violence and women's employment: fixed effects models of three waves of women's employment study data.

Domestic violence can interfere with women's ability to work, and may result in loss of welfare benefits and poorer economic outcomes. Previous studies showing no effect of domestic violence on employment could be a result of the failure to control for some individual characteristics; therefore we use fixed-effects models with three waves of Women's Employment Study (WES) data to control for unobservable time-invariant individual-specific characteristics. Included in our analyses were 598 women, from an urban county in Michigan who were on the welfare rolls in February of 1997, all of whom completed 3 waves of interviews. Our fixed effects regression results show that domestic violence significantly reduced the annual work hours of a respondent. Mental and physical health problems do not completely mediate this relationship. Our results support efforts to address domestic violence within the welfare system.

Adult↗

PubMed2026

Identification of a Novel Splice-Site variant in TACR3 (c.888 + 1G > A) Associated with Asthenozoospermia and Hypogonadotropic Hypogonadism in an Iranian Family.

BACKGROUND: TACR3 encodes the receptor for neurokinin B, a key regulator of the hypothalamic-pituitary-gonadal axis. Disruption of this pathway can impair gonadotropin release and male reproductive function. Given the genetic heterogeneity of male infertility, this study aimed to identify novel variants in TACR3 that may underlie asthenozoospermia and related hormonal abnormalities. METHODS: Fifteen infertile men with confirmed asthenozoospermia were enrolled. Whole-exome sequencing (WES) was performed on genomic DNA from peripheral blood, and the candidate variant was validated by Sanger sequencing. Functional predictions were made using PolyPhen-2, SIFT, MutationTaster, and REVEL. TACR3 mRNA expression levels were assessed by real-time PCR in available samples. RESULTS: A novel splice-site variant, TACR3 (NM_001059.3:c.888 + 1G > A), was detected and found to segregate with infertility in one family, appearing homozygously in two infertile brothers and heterozygously in the proband with severe asthenozoospermia. The variant was absent in public and local genomic databases, suggesting its extremely rare frequency. Furthermore, RT-PCR showed a dramatic reduction or complete loss of TACR3 expression in affected individuals, confirming its deleterious effect on splicing and mRNA stability. CONCLUSION: We identified a previously unreported splice-site mutation in TACR3 (c.888 + 1G > A) that likely causes familial infertility by disrupting the neurokinin B/NK3R signaling pathway. While the heterozygous proband exhibited severe asthenozoospermia, the homozygous brothers displayed hormonal profiles typical of hypogonadotropic hypogonadism. These findings extend the mutational landscape of TACR3 and highlight its essential contribution to male reproductive endocrinology.

Humans↗

PubMed1992

Self report assessment of anxiety: a cross validation of the Lehrer Woolfolk Anxiety Symptom Questionnaire in three populations.

This study was meant to investigate the psychometric properties and clinical utility of the Lehrer Woolfolk Anxiety Symptom Questionnaire (LWASQ), an instrument for assessment of somatic, behavioral and cognitive aspects of anxiety. Confirmatory factor analysis on data from social phobics (n = 108), normal adults (n = 103) and normal adolescents (n = 650) showed that the three original factors were strongly replicated in each sample. The three subscales appeared to have high internal consistency, while data on convergent and divergent validity were satisfactory. In addition, the subscales did very well in discriminating between phobic patients and normals, and were able to detect treatment effects. In the discussion the instrument is compared with other self report measures of anxiety dimensions, like the Cognitive Somatic Anxiety Questionnaire (CSAQ) and the Worry-Emotionality Scale (WES). It is suggested that similar questionnaires, adjusted to the separate anxiety disorders, should be developed.

Adolescent↗

PubMed1992

Perception of family and work environments in women with premenstrual syndrome.

Seventy-three women with a prospectively confirmed diagnosis of Premenstrual Syndrome (PMS) were compared to 50 routine gynaecological care non-PMS controls on measures of social climate/environmental stress. Tests administered included the Family Environment Scale (FES), Work Environment Scale (WES), Spielberger State-Trait Anxiety Inventory (STAI), and the Beck Depression Inventory (BDI). The PMS group scored significantly higher on amount of conflict in their families as well as on emphasis on ethical and religious values but lower on direct emotional expressiveness within the family, intellectual-cultural orientation, and active-recreational orientation as compared to controls. Furthermore, the PMS group perceived having more work pressure, less autonomy on the job, and less variety in their work than controls. Overall, psychological distress was not associated with increased environmental stress either in the PMS or control groups.

Adult↗

PubMed1984

Molecular cloning of African swine fever virus DNA.

African swine fever virus DNA (about 170 kbp) was cleaved with the restriction endonuclease EcoRI and most of the resulting 31 fragments were cloned in either the phage vector lambda WES lambda B or the plasmid pBR325. Three fragments were not cloned in those vectors, the largest fragment EcoRI-A (21.2 kbp) and the two crosslinked terminal fragments, EcoRI-K' and D'. Endonuclease SalI cut fragment EcoRI-A into three pieces which were cloned in plasmid pBR322. The two terminal EcoRI fragments were cloned after removal of the crosslinks with nuclease S1 and addition of EcoRI linkers to the fragment ends. The complete library of the cloned fragments accounted for about 98% of ASF virus genome, the missing sequences being those removed by the nuclease S1 in the process of cloning the terminal fragments.

African Swine Fever Virus↗

PubMed1996

Dose-response relationships of cytotoxicity, PFC response and histology in the spleen in rats treated with alkylating agents.

Our previous study revealed the appropriate conditions for the plaque- forming cell (PFC) assay in rats. Using this assay in the present study, dose-response relationships of cytotoxicity, PFC response and histology in the spleen were evaluated in rats receiving alkylating agents. Rats were given a single intravenous administration of cyclophosphamide (CY) at a dose of 3, 10 or 30 mg/kg. Spleen weights and cellularity were decreased in the rats treated with 30 mg/kg. Suppressed PFC response wes observed in the rats receiving 10 mg/kg or more. In the rats treated with CY at 1, 3 or 10 mg/kg for 7 days, spleen weights and cellularity and PFC response were reduced at doses of 3 mg/kg or more. Treatment with the other alkylating agents, however, had a different consequence. Namely, in the rats treated with nitromin once or for 7 days, spleen weights and cellularity were decreased at a dose lower than that causing a reduction in the PFC response. In the rats treated with melphalan or chlorambucil, the weights and cellularity of the spleen tended to be decreased at a dose lower than that suppressing the PFC response. Histologically, in the case of CY, the marginal zone was narrow with cellular depletion in the rates receiving 3 mg/kg, whereas little change was seen in the periarteriolar lymphoid sheath (PALS). At a dose of 10 mg/kg, the marginal zone was markedly atrophied and slight atrophy of the PALS was seen. On the other hand, in the rats treated with nitromin, a dose-related decrease in the size of the spleen was seen without changes in the tissue architecture. Melphalan caused atrophy of both the marginal zone and the PALS at a dose suppressing PFC response. Regarding the red pulp, the extramedullary hematopoiesis disappeared with melphalan and nitromin, but not with CY. These results indicate that the decreases in weights and cellularity and histological changes in the spleen caused by the alkylating agents are detectable at the dose suppressing PFC response except for CY, which has a marked immunosuppressive action. Furthermore, the observed histological findings in the spleen were characteristic of each alkylating agent.

Animals↗

PubMed1983

Molecular cloning of unintegrated visna viral DNA and characterization of frequent deletions in the 3' terminus.

Visna viral DNA, like other retroviral DNA, exists in two circular forms in infected cells. The larger probably contains two copies of the LTR, the smaller, one copy. Recombinant DNA techniques were used to clone unintegrated circular visna viral DNA in the lambda WES . lambda B vector. Circular visna viral DNA was digested with the restriction enzyme SstI, which yields a 9.2-kb viral DNA fragment containing 90% of the viral genome colinear with the restriction map of linear viral DNA. This fragment extends from a site about 900 bp from the left (5') end of the viral DNA molecule, through the 3' region, including U3 and R sequences at its right (3') end. The recombinant clones isolated contain visna viral DNA inserts which range in size from 3.1 kb to 9.2 kb. All the clones contain the 5' region intact, but most had sustained deletions of varying lengths in the 3' terminal region of the cloned fragment.

Chromosome Mapping↗

PubMed1992

The impact of a staff support group on the work environment of a specialty unit.

The purpose of this study was to evaluate the impact of a staff support group led by a psychiatric liaison nurse on the work environment of a specialty unit. Before and at the completion of a series of 12 group meetings, participants completed two forms (real and ideal) of the Work Environment Scale (WES) that elicited their perceptions of the unit's work environment and their preferences for an ideal work environment. Initial findings were used to guide the content and process of the group intervention. Subjects real and ideal scores, as well as real-ideal discrepancies before and after intervention were compared using t tests. Statistically significant changes were found on the dimensions of clarity and control. Clinical observations showed a decrease in staff conflict and improvement in interpersonal communication.

Adaptation, Psychological↗