Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726-1G>C and p.(Tyr289Cys). Electroretinography indicated a rod-cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra-ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non-null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood.

The USDA Food Safety Inspection Service has declared Escherichia coli O157:H7, and six additional Shiga toxin-producing E. coli (STEC) are adulterants for nonintact raw beef products. The U. S. beef processing industry has implemented several antimicrobial intervention technologies throughout the carcass dressing process to remove or destroy foodborne pathogens present on beef carcasses. Despite these efforts, STEC have been shown to cause finished product contamination, albeit at prevalences typically <0.5%. Recent work described the development and validation of improved methods for collecting samples from raw beef trimmings. One of the methods, the Manual Sampling Device (MSD) method, uses the manual implementation of the MicroTally® Swab (MT-Swab) to vigorously scrub the surface of raw beef manufacturing trimmings for pathogen detection. The work described herein reports the data from an evaluation of a novel MSD method using the MicroTally® Mitt (MT-Mitt). The MT-Mitt provides a more user-friendly option for sample collection than the MT-Swab. A series of trials were conducted with a total of 360 matched samples comparing manual sampling of raw beef manufacturing trimmings using the MT-Swab, N60-excision, or N60-plus methods to a novel method using the MT-Mitt. The results of these trials collectively demonstrate that manual sampling of raw beef manufacturing trimmings using the MT-Mitt provides organism recovery that is not significantly different from that of the MT-Swab, N60-excision, and N60-plus methods. Thus, the MT-Mitt method provides an alternative sampling method with organism recovery that is not significantly different from previous methods for sampling beef manufacturing trimmings for pathogen detection and some implementation advantages pertaining to labor and ease of use.

Work-related musculoskeletal disorders (WMSD) are injuries affecting bones, joints, muscles, and tendons due to improper working conditions with serious consequences on health and career. Dentists were found to be at greater risk of developing WMSD compared to other healthcare providers. This study aimed to investigate the prevalence and risk factors of WMSD among dental students in Saudi Arabia.
This cross-sectional survey-based study recruited dental students across the kingdom using respondent-driven sampling technique. Data was collected using the Nordic Musculoskeletal scale and a validated, self- administered, close-ended questionnaire which assessed WMSDs predisposing factors, enabling factors and musculoskeletal disorders consequences and management. The questionnaire was administered in both Arabic and English languages and was distributed online using google forms. Data analysis was performed using SPSS, Chi-square test or Fisher Exact test was used where appropriate and Multivariate Logistic regression analysis was performed to identify predictors of developing WMSDs.
The prevalence of WMSD was 87% (95% CL; 83.9% to 90.3%) among the 462 respondents. Gender, study year, type of practice, having clinics for left-handed, hours of clinical practice, sitting in the proper position while working, use of coping strategies were significantly associated with WMSD prevalence (P < 0.05). Males were OR = 10 times at higher risk of WMSD compared to females (P = 0.0001). Those with daily clinical practice were OR = 5 times at higher risk of WMSD than those who have weekly practice. Those practicing walking, workout, and yoga showed lower prevalence of WMSD (OR = 0.377 & 0.323, p = 0.015, 0.010 respectively).
The prevalence of WMSD among dental students in KSA was high. Males and those with prolonged clinical sessions were at greater risk of WMSD. There is a need for awareness campaigns to educate dental students about risk factors of WMSD. Collegesy, dental colleges should adopt policies in reducing WMSD among their students.

For the efficacy of COVID-19 vaccines, emergence of variants accumulating immune-escape mutations remains a major concern. We analyzed the anti-variant (n = 10) neutralization activity of sera from COVID-19 patients infected with Wuhan (B.1), Kappa, and Delta variants and COVISHIELD vaccine recipients with (prepositives) or without (prenegatives) prior antibody positivity using V- PLEX ACE2 Neutralization Kit from MSD. MSD and PRNT50 correlated well (r = 0.76-0.83, p < 0.0001). Despite the least antibody positivity in Kappa patients, anti-variant neutralizing antibody (Nab) levels in the responders were comparable with Delta patients. Vaccinees sampled at 1 month (PD2-1) and 6 months (PD2-6) post-second dose showed the highest seropositivity and Nab levels against the Wuhan strain. At PD2-1, the responder rate was variant-dependent and 100% respectively in prenegatives and prepositives. Nab levels against B.1.135.1, B.1.620, B.1.1.7+E484K (both groups), AY.2 (prenegatives), and B.1.618 (prepositives) were lower than that of Wuhan. At PD2-6, positivity decreased to 15.6%-68.8% in the prenegatives; 3.5%-10.7% of prepositives turned negative for the same four variants. As against the decline in Nab levels in 9/10 variants (prenegatives), a further reduction was seen against the same four variants in the prepositives. These variants possess immune-evasion-associated mutations in the RBD/S region. In conclusion, our data show that the Nab response of patients to multiple variants depends on the infecting variant. We confirm superiority of hybrid immunity in neutralizing multiple variants. Depending on the infecting variant pre- or postvaccination, immune response to different vaccines in different populations will vary and impact protection against emerging variants. The MSD platform provides an excellent alternative to live virus/pseudovirus neutralization tests.

Multifaceted food safety systems are used by the beef processing industry to minimize risk of bacterial contamination of the finished product. These systems are comprised of several parts including the conditional release of product requiring a sample to produce a negative result on a pathogen test prior to sending the product into the food supply. The methods of sample collection require verification activities that ensure the sampling protocols are performed adequately. The research described herein was done to determine the parameters for use in verifying adequate beef trim sampling for the Manual Sampling Device (MSD) method. In addition, the efficacy of repeated sampling via multiple applications of the MSD procedure on a fresh raw beef trim combo was investigated. The results show that MSD sample collection thatcoversless than the entire combo surface, but at least one-halfof the combo surface and is collected for a minimum of 90 s, is adequate for the recovery of organisms and prevalence targets from fresh raw beef trim. In addition, the evidence that MSD sample collection thatoccurs forless than the recommended time, butnot less than 30 s per side of the swab, is adequate for the recovery of organisms and prevalence targets from raw beef trim. Finally, results show that in a scenario where an in-plant MSD sample and a regulatory MSD sample are required from the same combo, two MSD samples can be collected from the same combo bin with similar test results for both samples. While the recommended MSD protocol specifications will not be changed, the data presented herein provide support for some flexibility in accepting test results when verification activities indicate that sampling did not occur as specified in the recommended procedure.

It has become increasingly clear in recent years that chromosomes are highly dynamic entities. Chromatin mobility and re-arrangement are involved in many biological processes, including gene regulation and the maintenance of genome stability. Despite extensive studies on chromatin mobility in yeast and animal systems, up until recently, not much had been investigated at this level in plants. For plants to achieve proper growth and development, they need to respond rapidly and appropriately to environmental stimuli. Therefore, understanding how chromatin mobility can support plant responses may offer profound insights into the functioning of plant genomes. In this review, we discuss the state of the art related to chromatin mobility in plants, including the available technologies for their role in various cellular processes.

There is growing evidence of the comorbidity between personality disorder (PD) and musculoskeletal disorders (MSDs). However, there are no systematic reviews including critical appraisal and meta-analyses that identify, evaluate, and synthesize the available evidence on these associations. Therefore, we present here a protocol of the methodology to undertake a systematic review, with the objective to evaluate associations between PD and MSDs in epidemiological population-based studies. A systematic review of observational studies will be conducted. A complete search strategy will be developed in consultation with a health librarian. To identify peer-reviewed literature, the search will be translated for, and implemented in Medline Complete, CINAHL Complete, and PsycINFO via the EBSCOhost platform from 1990 to the present. Gray literature will be identified. Studies will be eligible if they examine general population participants aged 15 years and over. Associations of interest are the presence of threshold or positive screen according to the DSM-V/5 (groupings: any, Clusters A, B, C, specific PD) or ICD-10 for PD in relation to arthritis, back/neck conditions, fibromyalgia, osteopenia/osteoporosis, and/or \"any\" of these MSDs. Data extraction and critical appraisal will be conducted in line with the Joanna Briggs Institute (JBI) guidance for systematic reviews of etiology and risk. The results from all studies will be presented in tables, text, and figures. A descriptive synthesis will present the characteristics of included studies, critical appraisal results, and descriptions of the main findings. Where appropriate, meta-analyses will be performed. If heterogeneity (e.g., I 2 = 50%) is detected, subgroup/sensitivity analysis may be used to explore the possible sources. The systematic review does not require ethics approval. The proposed systematic review will strengthen the evidence base on what is known regarding associations between PD and MSDs by identifying, evaluating, and synthesizing the findings of existing observational studies including meta-analyses, where appropriate.

BACKGROUND: Baggers play a significant role in the customer service of supermarket stores.
OBJECTIVE: The purpose of this study was to determine the effects of biomechanical risk factors on musculoskeletal disorders (MSD) experienced by baggers in the supermarket industry.
METHODS: Forty baggers employed among five supermarket stores in the National Capital Region in the Philippines participated in the study. To examine the biomechanical risk factors of the baggers, this study used an observational approach as well as standard ergonomic tools like REBA and NIOSH. In addition, musculoskeletal discomfort was subjectively rated using the standardized Cornell Musculoskeletal Disorder Questionnaire at the end of the work shift. Furthermore, correlation and stepwise regression analysis were utilized to determine the association between biomechanical risk factors and MSD.
RESULTS: Approximately 76% of study participants reported work-related MSD. The highest prevalence was in the foot area, followed by upper back, shoulder, lower leg, lower back, neck, and upper arm. Pearson correlation analysis had found a significant association between MSD and biomechanical risk factors. The highest correlation was observed between MSD and postural risk index (R2 = 0.863, p < 0.001), followed by weight lifted (R2 = 0.836, p < 0.001), task duration (R2 = 0.816, p < 0.001), task frequency (R2 = 0.756, p < 0.001), and lifting index (R2 = 0.661, p < 0.001). Furthermore, stepwise regression analysis revealed that the postural risk index (REBA) had the highest coefficient value (β=16.99), indicating the strongest positive effect to MSD.
CONCLUSIONS: This present study revealed that grocery baggers are frequently exposed to risk factors such as awkward posture, lifting heavy loads, extended task durations, and prolonged postures during repetitive tasks increased their risk of developing MSDs. Hence, preventive measures are suggested to minimize the risk of MSD, such as the implementation of intervention through ergonomic solutions like awareness and training on safe lifting practices, adjustment of workstations to fit the stature of workers, introducing rest breaks in between work shifts, use of floor mats, and use of compression stockings in conjunction with safety shoes.

BACKGROUND: This is the first US-representative, retrospective, real-world propensity score (PS) matching study comparing the occurrence of TLS-associated fatalities following allopurinol monotherapy versus rasburicase monotherapy. We have previously found rasburicase significantly and more rapidly reduces uric acid exposure (AUC) compared to allopurinol in patients with or at risk of TLS (Goldman/Cairo et al., Blood, 2001).
OBJECTIVE: To determine if a significant difference exists in the proportion of TLS-associated fatalities following treatment with allopurinol or rasburicase monotherapy for having or being at risk of TLS.
METHODS: 282 rasburicase and allopurinol patients were PS-matched for TLS risk using eleven predictive covariates. Patients were matched 1:1 using calipers of width equal to 0.2 of the standard deviation of the logit of the PS (d score). The overall PS logit was almost 0.6 before matching but near 0.0 afterward; covariates exhibited only a small imbalance (|d|<0 .25), indicating patients were well matched.
METHODS: Anonymized patient information from our 2021 physician-based, blinded, retrospective study, provided by 266 oncologists from US physician-owned practices, academic and non-academic hospitals, and outpatient clinics.
METHODS: Fielded June-September, the 2021 study included 715 randomized liquid-tumor patients treated in the past year for hyperuricemia (HU) risk and TLS potential. The 2022 PSM analysis included only those receiving rasburicase or allopurinol monotherapy and excluded patients with spontaneous TLS or TLS before HU treatment, leaving 533 potential subjects. 282 were matched on PS and eleven pre-HU treatment covariates: acute renal failure, age, anti-cancer regimen, creatinine, gender, lactate dehydrogenase, perceived risk, renal disease, tumor type, uric acid, and white blood count. Unmatched cases were discarded.
METHODS: Proportions of mortalities that physicians said were the direct result of TLS. The null hypothesis before matching was no significant difference between the groups.
RESULTS: Analyzing all matched patients (n=141 in each group), regardless of TLS development following HU treatment, TLS-associated mortality was significantly less likely among rasburicase patients (2.1% vs. 7.1% [P-value 0.047]). Analyzing the subset who developed TLS after HU treatment, TLS-associated fatalities were even less likely among rasburicase patients, 3 of 36 rasburicase vs. 10 of 27 allopurinol patients [P-value 0.005].
CONCLUSIONS: Results indicate rasburicase compared to allopurinol significantly reduces TLS-associated fatalities.

Teachers\' health is a key factor of any successful education system, but available data are conflicting. To evaluate to what extent teachers\' health could be at risk, we used pre-pandemic data from the CONSTANCES population-based French cohort (inclusion phase: 2012-2019) and compared teachers (n = 12,839) included in the cohort with a random subsample selected among all other employees (n = 32,837) on four self-reported health indicators: perceived general health, depressive symptoms (CES-D scale), functional limitations in the last six months, and persistent neck/back troubles (Nordic questionnaire). We further restricted our comparison group to the State employees (n = 3583), who share more occupational similarities with teachers. Lastly, we focused on teachers and evaluated how their health status might differ across teaching levels (primary, secondary, and higher education). As compared to non-teacher employees, and even after adjusting for important demographic, socioeconomic, lifestyle, and occupational confounders, teachers were less likely to report bad perceived health and depressive symptoms but were more likely to present functional limitations. Trends were similar in the analyses restricted to State employees. Within the teaching population, secondary school teachers were more likely to report depressive symptoms but less frequently declared persistent neck/back troubles than primary school teachers. Our descriptive cross-sectional study based on a probability sampling procedure (secondary use of CONSTANCES inclusion data) did not support the idea that teachers\' health in France was particularly at risk in the pre-pandemic period. Both cross-cultural and longitudinal studies are needed to further gain information on the topic of teachers\' health around the world and to monitor its evolution over time, particularly during crises impacting the education system such as the COVID-19 pandemic.