bluuebunny/crossref_metadata_2025 huggingface dataset:
Early pregnancy metabolic syndrome and risk for adverse pregnancy outcomes: findings from Rajarata Pregnancy Cohort (RaPCo) in Sri Lanka
Authors: Jayasinghe Imasha Upulini , Agampodi Thilini Chanchala , Dissanayake Ajith Kumara , Agampodi Suneth Buddhika
Published: April 2023

Background

Despite the intergenerational effects of metabolic disorders, evidence is greatly lacking on early pregnancy metabolic syndrome (MetS) and its effects on pregnancy outcomes from low- and middle-income countries. Thus, this prospective cohort of South Asian pregnant women aimed to evaluate how early pregnancy MetS would affect pregnancy outcomes.

Methods

A prospective cohort study was conducted among first-trimester (T1) pregnant women of Anuradhapura district, Sri Lanka recruited to the Rajarata Pregnancy Cohort in 2019. MetS was diagnosed by the Joint Interim Statement criteria before 13 weeks of gestational age (GA). Participants were followed up until their delivery, and the major outcomes measured were large for gestational age (LGA), small for gestational age (SGA), preterm birth (PTB) and miscarriage (MC). Gestational weight gain, gestational age at delivery and neonatal birth weight were used as measurements to define the outcomes. Additionally, outcome measures were re-assessed with adjusting fasting plasma glucose (FPG) thresholds of MetS to be compatible with hyperglycemia in pregnancy (Revised MetS).

Results

2326 T1 pregnant women with a mean age of 28.1 years (SD-5.4), and a median GA of 8.0 weeks (IQR-2) were included. Baseline MetS prevalence was 5.9% (n = 137, 95%CI-5.0–6.9). Only 2027 (87.1%) women from baseline, had a live singleton birth, while 221(9.5%) had MC and 14(0.6%) had other pregnancy losses. Additionally, 64(2.8%) were lost to follow-up. A higher cumulative incidence of LGA, PTB, and MC was noted among the T1-MetS women. T1-MetS carried significant risk (RR-2.59, 95%CI-1.65–3.93) for LGA, but reduced the risk for SGA (RR-0.41, 95%CI-0.29–0.78). Revised MetS moderately increased the risk for PTB (RR-1.54, 95%CI-1.04–2.21). T1-MetS was not associated (p = 0.48) with MC. Lowered FPG thresholds were significantly associated with risk for all major pregnancy outcomes. After adjusting for sociodemographic and anthropometric confounders, revised MetS remained the only significant risk predictor for LGA.

Conclusion

Pregnant women with T1 MetS in this population are at an increased risk for LGA and PTB and a reduced risk for SGA. We observed that a revised MetS definition with lower threshold for FPG compatible with GDM would provide a better estimation of MetS in pregnancy in relation to predicting LGA.
ATM depletion induces proteasomal degradation of FANCD2 and sensitizes neuroblastoma cells to PARP inhibitors
Authors: Parvin Sultana , Akter Jesmin , Takenobu Hisanori , Katai Yutaka , Satoh Shunpei , Okada Ryu , Haruta Masayuki , Mukae Kyosuke , Wada Tomoko , Ohira Miki , Ando Kiyohiro , Kamijo Takehiko
Published: April 2023

Background

Genomic alterations, including loss of function in chromosome band 11q22-23, are frequently observed in neuroblastoma, which is the most common extracranial childhood tumour. In neuroblastoma, ATM, a DNA damage response-associated gene located on 11q22-23, has been linked to tumorigenicity. Genetic changes in ATM are heterozygous in most tumours. However, it is unclear how ATM is associated with tumorigenesis and cancer aggressiveness.

Methods

To elucidate its molecular mechanism of action, we established ATM-inactivated NGP and CHP-134 neuroblastoma cell lines using CRISPR/Cas9 genome editing. The knock out cells were rigorously characterized by analyzing proliferation, colony forming abilities and responses to PARP inhibitor (Olaparib). Western blot analyses were performed to detect different protein expression related to DNA repair pathway. ShRNA lentiviral vectors were used to knockdown ATM expression in SK-N-AS and SK-N-SH neuroblastoma cell lines. ATM knock out cells were stably transfected with FANCD2 expression plasmid to over-expressed the FANCD2. Moreover, knock out cells were treated with proteasome inhibitor MG132 to determine the protein stability of FANCD2. FANCD2, RAD51 and γH2AX protein expressions were determined by Immunofluorescence microscopy.

Results

Haploinsufficient ATM resulted in increased proliferation (p < 0.01) and cell survival following PARP inhibitor (olaparib) treatment. However, complete ATM knockout decreased proliferation (p < 0.01) and promoted cell susceptibility to olaparib (p < 0.01). Complete loss of ATM suppressed the expression of DNA repair-associated molecules FANCD2 and RAD51 and induced DNA damage in neuroblastoma cells. A marked downregulation of FANCD2 expression was also observed in shRNA-mediated ATM-knockdown neuroblastoma cells. Inhibitor experiments demonstrated that the degradation of FANCD2 was regulated at the protein level through the ubiquitin–proteasome pathway. Reintroduction of FANCD2 expression is sufficient to reverse decreased proliferation mediated by ATM depletion.

Conclusions

Our study revealed the molecular mechanism underlying ATM heterozygosity in neuroblastomas and elucidated that ATM inactivation enhances the susceptibility of neuroblastoma cells to olaparib treatment. These findings might be useful in the treatment of high-risk NB patients showing ATM zygosity and aggressive cancer progression in future.
The impact of COVID-19 on communicative accessibility and well-being in adults with hearing impairment: a survey study
Authors: Hammer Annemiek , Coene Martine
Published: April 2023

Background

COVID-19 measures, such as face masks, have clear consequences for the communicative accessibility of people with hearing impairment because they reduce speech perception. As communication is essential to participate in society, this might have impact on their mental well-being. This study was set out to investigate the impact of the COVID-19 measures on the communicative accessibility and well-being of adults with hearing impairment.

Method

Two groups of adults took part in this study, with (N = 150) and without (N = 50) hearing loss. The participants answered statements on a five point Likert-scale. Statements regarding communicative accessibility involved speech perception abilities, behavioral changes and access to information. Well-being was measured at the overall level in daily community life and at work, and in particular also with respect to perceived stress. We asked participants with hearing impairment on their audiological needs during the pandemic.

Results

Significant group differences were found on speech perception abilities due to COVID-19 measures. Behavioral changes were observed to compensate for the loss in speech perception. Hearing loss was associated with an increased request for repetition or for removal of the face mask. Using information technology (e.g. Zoom) or contacting colleagues did not pose any major problems for the hearing group, whereas participants with hearing loss gave mixed responses. A significant difference emerged between groups on well-being in daily life, but not on well-being at work or perceived stress.

Conclusions

This study shows the detrimental effect of COVID-19 measures on the communicative accessibility of individuals with hearing loss. It also shows their resilience as only partial group differences were found on well-being. Protective factors are indicated, such as access to information and audiological care.
Timeliness and completeness of weekly surveillance data reporting on epidemic prone diseases in Uganda, 2020–2021
Authors: Nansikombi Hildah Tendo , Kwesiga Benon , Aceng Freda L. , Ario Alex R. , Bulage Lilian , Arinaitwe Emma S.
Published: April 2023

Introduction

Disease surveillance provides vital data for disease prevention and control programs. Incomplete and untimely data are common challenges in planning, monitoring, and evaluation of health sector performance, and health service delivery. Weekly surveillance data are sent from health facilities using mobile tracking (mTRAC) program, and synchronized into the District Health Information Software version 2 (DHIS2). The data are then merged into district, regional, and national level datasets. We described the completeness and timeliness of weekly surveillance data reporting on epidemic prone diseases in Uganda, 2020–2021.

Methods

We abstracted data on completeness and timeliness of weekly reporting of epidemic-prone diseases from 146 districts of Uganda from the DHIS2.Timeliness is the proportion of all expected weekly reports that were submitted to DHIS2 by 12:00pm Monday of the following week. Completeness is the proportion of all expected weekly reports that were completely filled and submitted to DHIS2 by 12:00pm Wednesday of the following week. We determined the proportions and trends of completeness and timeliness of reporting at national level by year, health region, district, health facility level, and facility ownership.

Results

National average reporting timeliness and completeness was 44% and 70% in 2020, and 49% and 75% in 2021. Eight of the 15 health regions achieved the target for completeness of ≥ 80%; Lango attained the highest (93%) in 2020, and Karamoja attained 96% in 2021. None of the regions achieved the timeliness target of ≥ 80% in either 2020 or 2021. Kampala District had the lowest completeness (38% and 32% in 2020 and 2021, respectively) and the lowest timeliness (19% in both 2020 and 2021). Referral hospitals and private owned health facilities did not attain any of the targets, and had the poorest reporting rates throughout 2020 and 2021.

Conclusion

Weekly surveillance reporting on epidemic prone diseases improved modestly over time, but timeliness of reporting was poor. Further investigations to identify barriers to reporting timeliness for surveillance data are needed to address the variations in reporting.
Vancomycin presoak reduces infection in anterior cruciate ligament reconstruction: a systematic review and meta-analysis
Authors: Hu Mingwei , Zhang Yifan , Shang Guangqian , Guo Jianjun , Xu Hao , Ma Xue , Yang Xue , Xiang Shuai
Published: April 2023

Purpose

To compare the effect of vancomycin presoak treatment of grafts during anterior cruciate ligament reconstruction on the incidence of postoperative infection or septic arthritis.

Methods

Studies published before May 3, 2022 investigating vancomycin presoak of grafts during anterior cruciate ligament reconstruction were searched in the PubMed and Cochrane Central Register of Controlled Trials. Studies were screened, and data on the incidence of postoperative infection or septic arthritis were extracted and included in the analysis.

Results

Thirteen studies were included for analysis after search screening, yielding a total of 31,150 participants for analysis, of whom 11,437 received graft vancomycin presoak treatment, and 19,713 did not receive treatment. Participants who received vancomycin treatment had significantly lower infection rates (0.09% versus 0.74%; OR 0.17; 95% CI 0.10, 0.30; P < 0.00001).

Conclusion

Pre-soaking of the graft with vancomycin during ACL reconstruction reduced the incidence of postoperative infection and septic arthritis.
Diabetes mellitus is a potential risk factor for aseptic loosening around hip and knee arthroplasty
Authors: Deng Yi , Smith Paul N , Li Rachel W
Published: April 2023

Background

Aseptic loosening is a leading cause of revision following total hip and knee arthroplasty which is caused by chronic inflammation around the prosthesis. Diabetes mellitus causes systemic inflammatory changes which could increase the risk of aseptic loosening. This study investigated the association between diabetes mellitus and aseptic loosening around hip and knee arthroplasty.

Methods

A case-control study was conducted at a single arthroplasty centre over the seven-year period of January 2015 to December 2021. Cases were defined as any adult patient undergoing revision hip or knee arthroplasty for aseptic loosening. Controls were randomly selected patients undergoing primary total hip or knee arthroplasty during the same period at a 1:4 ratio. Risk factors were compared between the two groups.

Results

A total of 440 patients were included in our study – 88 in the aseptic loosening group and 352 patients in the control group. The odds of having diabetes mellitus in the aseptic loosening group was 2.78 (95%CI 1.31–5.92, P = 0.01). Other risk factors were not significantly different between the two groups.

Conclusions

The incidence of diabetes mellitus is significantly greater in patients undergoing revision arthroplasty for aseptic loosening. Further research is required to explore whether this association is indeed causative.
Student-led clinic cervical cancer screening—medical students’ views on progression of learning, quality of Pap smears and women´s experiences of the visit – a mixed methods study
Authors: Lilliecreutz Caroline , Holm Anna Clara Spetz , Dahlgren Madeleine Abrandt , Blomberg Marie
Published: April 2023

Background

Student-led clinics (SLC) have been described, but not in gynecology. Gynecology is a subject typically covered in the last terms of medical training, however it includes few opportunities for students to tackle all phases of a consultation and a shortage of opportunities to perform gynecological examinations. Therefore, we started a student-led clinic for cervical cancer screening (SLC-CCS) in Linköping, Sweden and aimed to evaluate students’ views on the progression of learning, the quality of the Papanicolaou (Pap) smear, and women´s experiences of the visit, using mixed methodology.

Methods

The implementation of the SLC-CCS is described in detail. Students (n = 61) taking part in the SLC-CCS between January and May 2021 were invited to participate in a follow-up discussion (n = 24) focused around four themes: attitudes and expectations prior to participation, experiences of the patient encounter, organization of the placement, and reflections on and suggestions for further development of the placements. The group meetings were conducted in Swedish, recorded, transcribed verbatim and subjected to a qualitative, descriptive thematic analysis. Thematic analysis is considered an appropriate method of analysis for seeking to understand experiences, thoughts, or behaviors across a data set. The proportion of Pap smears lacking cells from the squamous epithelium during the study period was compared with data from the same clinic before the SLC-CCS started. A validated questionnaire on women’s experience of the Pap smear visit was provided. Answers were compared between women who had the Pap smear taken by a student or a healthcare provider.

Results

Three different themes were generated: growing confidence in the clinical situation, embodied awareness of variation in anatomy, doubting accuracy of one’s own performance. The percentage of Pap smears lacking cells from the squamous epithelium were equal (2%) during the study period compared to the period before the SLC-CCS started (p = 0.28). No difference was found in the satisfaction index between the women examined by a student, those examined by a healthcare provider, or women who did not know who the examiner was (p = 0.112).

Conclusions

The students expressed a growing confidence in the clinical situation and there was high satisfaction from the women. The quality of the Pap smears taken by the students was equal to the quality of those taken by the health care staff. All these findings indicate that high patient safety was maintained during this activity support the recommendation to include SLC-CCS as part of the medical training.
Undergraduate rural medical training experiences and uptake of rural practice: a retrospective cohort study in South Australia
Authors: Williams Susan , Gonzalez-Chica David , Morgan Katrina , Herde Bronwyn , McArthur Lawrie , Walters Lucie
Published: April 2023

Background

Rural medical training experiences provided by Rural Clinical Schools (RCS) can encourage future practice in rural locations. However, the factors influencing students’ career choices are not well understood. This study explores the influence of undergraduate rural training experiences on graduates’ subsequent practice location.

Methods

This retrospective cohort study included all medical students who completed a full academic year at the University of Adelaide RCS training program between 2013–2018. Details of student characteristics, experiences, and preferences were extracted from the Federation of Rural Australian Medical Educators (FRAME, 2013–2018) survey and linked to graduates’ recorded practice location obtained from the Australian Health Practitioner Regulation Agency (AHPRA, January 2021). The rurality of the practice location was defined based on the Modified Monash Model (MMM 3–7) or Australian Statistical Geography Standard (ASGS 2–5). Logistic regression was used to examine associations between student rural training experiences and rural practice location.

Results

A total of 241 medical students (60.1% females; mean age 23.2 ± 1.8 years) completed the FRAME survey (response rate 93.2%). Of these, 91.7% felt well supported, 76.3% had a rural-based clinician mentor, 90.4% reported increased interest in a rural career, and 43.6% preferred a rural practice location after graduation. Practice locations were identified for 234 alumni, and 11.5% were working rurally in 2020 (MMM 3–7; 16.7% according to ASGS 2–5). In adjusted analysis, the odds of working rurally were 3–4 times more likely among those with a rural background or lived the longest in a rural location, 4–12 times more likely among those preferring a rural practice location after graduation, and increased with the student’s rural practice self-efficacy score (p-value < 0.05 in all cases). Neither the perceived support, having a rural-based mentor, or the increased interest in a rural career were associated with the practice location.

Conclusions

These RCS students consistently reported positive experiences and increased interest in rural practice after their rural training. Student reported preference for a rural career and rural practice self-efficacy score were significant predictors of subsequent rural medical practice. Other RCS could use these variables as indirect indicators of the impact of RCS training on the rural health workforce.
Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia
Authors: Campbell-Salome Gemme , Jones Laney K. , Walters Nicole L. , Morgan Kelly M. , Brangan Andrew , Ladd Ilene G. , McGowan Mary P. , Wilemon Katherine , Schmidlen Tara J. , Simmons Emilie , Schwartz Marci L. B. , McMinn Megan N. , Tricou Eric , Rahm Alanna K. , Ahmed Catherine D. , Sturm Amy C.
Published: April 2023

Background

This project aimed to optimize communication strategies to support family communication about familial hypercholesterolemia (FH) and improve cascade testing uptake among at-risk relatives. Individuals and families with FH provided feedback on multiple strategies including: a family letter, digital tools, and direct contact.

Methods

Feedback from participants was collected via dyadic interviews (n = 11) and surveys (n = 98) on communication strategies and their proposed implementation to improve cascade testing uptake. We conducted a thematic analysis to identify how to optimize each strategy. We categorized optimizations and their implementation within the project’s healthcare system using a Traffic Light approach.

Results

Thematic analysis resulted in four distinct suggested optimizations for each communication strategy and seven suggested optimizations that were suitable across all strategies. Four suggestions for developing a comprehensive cascade testing program, which would offer all optimized communication strategies also emerged. All optimized suggestions coded green (n = 21) were incorporated. Suggestions coded yellow (n = 12) were partially incorporated. Only two suggestions were coded red and could not be incorporated.

Conclusions

This project demonstrates how to collect and analyze stakeholder feedback for program design. We identified feasible suggested optimizations, resulting in communication strategies that are patient-informed and patient-centered. Optimized strategies were implemented in a comprehensive cascade testing program.
Understanding Uganda’s early adoption of novel differentiated HIV treatment services: a qualitative exploration of drivers of policy uptake
Authors: Zakumumpa Henry , Kwiringira Japheth , Katureebe Cordelia , Spicer Neil
Published: April 2023

Background

Although differentiated service delivery (DSD) for HIV treatment was endorsed by the WHO in its landmark 2016 guidelines to lessen patients’ need to frequently visit clinics and hence to reduce unnecessary burdens on health systems, uptake has been uneven globally. This paper is prompted by the HIV Policy Lab’s annual report of 2022 which reveals substantial variations in programmatic uptake of differentiated HIV treatment services across the globe. We use Uganda as a case study of an ‘early adopter’ to explore the drivers of programmatic uptake of novel differentiated HIV treatment services.

Methods

We conducted a qualitative case-study in Uganda. In-depth interviews were held with national-level HIV program managers (n = 18), district health team members (n = 24), HIV clinic managers (n = 36) and five focus groups with recipients of HIV care (60 participants) supplemented with documentary reviews. Our thematic analysis of the qualitative data was guided by the Consolidated Framework for Implementation Research (CFIR)’s five domains (inner context, outer setting, individuals, process of implementation).

Results

Our analysis reveals that drivers of Uganda’s ‘early adoption’ of DSD include: having a decades-old HIV treatment intervention implementation history; receiving substantial external donor support in policy uptake; the imperatives of having a high HIV burden; accelerated uptake of select DSD models owing to Covid-19 ‘lockdown’ restrictions; and Uganda’s participation in clinical trials underpinning WHO guidance on DSD. The identified processes of implementation entailed policy adoption of DSD (such as the role of local Technical Working Groups in domesticating global guidelines, disseminating national DSD implementation guidelines) and implementation strategies (high-level health ministry buy-in, protracted patient engagement to enhance model uptake, devising metrics for measuring DSD uptake progress) for promoting programmatic adoption.

Conclusion

Our analysis suggests early adoption derives from Uganda’s decades-old HIV intervention implementation experience, the imperative of having a high HIV burden which prompted innovations in HIV treatment delivery as well as outer context factors such as receiving substantial external assistance in policy uptake. Our case study of Uganda offers implementation research lessons on pragmatic strategies for promoting programmatic uptake of differentiated treatment HIV services in other countries with a high HIV burden.
Preserved vegetable consumption and its association with mortality among 440,415 people in the China Kadoorie Biobank
Authors: Zhuang Pan , Wu Fei , Liu Xiaohui , Zhu Fanghuan , Li Yin , Jiao Jingjing , Zhang Yu
Published: April 2023

Background

Fresh vegetable consumption has been associated with lower incidence of cardiovascular disease (CVD). However, whether preserved vegetable consumption is linked with CVD and mortality remains unclear. This study aimed to assess the associations of preserved vegetable consumption with all-cause and cause-specific mortality.

Methods

A total of 440,415 participants free of major chronic diseases, aged 30–79 years, were enrolled from 10 diverse regions in China between 2004 and 2008 and were followed up for an average of 10 years. Preserved vegetable consumption was assessed using a validated food frequency questionnaire. Cause-specific hazard models with the consideration of competing risk from various deaths were performed to calculate hazard ratios (HRs) and 95% confidence intervals (CIs) of mortality.

Results

During 4,415,784 person-years of follow-up, we documented 28,625 deaths. After adjustment for major risk factors, preserved vegetable consumption was marginally associated with higher CVD mortality (P = 0.041 for trend and P = 0.025 for non-linearity) but not associated with cancer mortality and total mortality. For specific causes of death, consuming preserved vegetables was associated with higher hemorrhagic stroke mortality. The multivariable-adjusted HRs (95% CIs) of hemorrhagic stroke mortality compared with non-consumers were 1.32 (1.17–1.50) for 1–3 days/week and 1.15 (1.00–1.31) for regular consumers (≥4 days/week) (P = 0.006 for trend and P < 0.001 for non-linearity). In addition, regular preserved vegetable consumption was associated with increased risk of digestive tract cancer mortality [HR (95% CI): 1.13 (1.00–1.28); P = 0.053 for trend] and esophageal cancer mortality [HR (95% CI): 1.45 (1.17–1.81); P = 0.002 for trend].

Conclusions

Frequent consumption of preserved vegetables was associated with higher risk of mortality from hemorrhagic stroke and esophageal cancer in China. Our findings suggest limiting preserved vegetable consumption might be protective for premature death from hemorrhagic stroke and digestive tract cancer.
Modular dual mobility articulation in primary and revision hip arthroplasty: lights and shadows
Authors: Moghnie Alessandro , Tigani Domenico , Consoli Alberto , Castiello Emanuela , Ganci Marco , Amendola Luca
Published: April 2023

Purpose

The use of dual mobility cups in total hip arthroplasty has gained popularity in light of the fact it enables to reduce dislocation through increased jumping distance (JD) and impingement-free arc of movement. Modular Dual Mobility Cup (modular DMC) systems have been recently introduced to enable the use of dual mobility cups with standard metal-backed shells. The objective of this study was twofold: calculate the JD for each modular DMC system and conduct a systematic literature review to report clinical outcomes and reasons for failure of this construct.

Methods

The JD was calculated using the Sariali formula: JD = 2Rsin [(π/2 − Ψ − arcsin (offset/R))/2]. A qualitative systematic literature review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A comprehensive search for English and French articles between January 2000 and July 2020 was run on PubMed, EMBASE, Google Scholar, and Scopus with the primary objective of finding articles about modular DMC systems.

Results

We identified eight 8 different manufacturers of modular DMC systems and 327 publications on the subject. After screening for duplicates and eligibility, we identified 229 publications: 206 articles were excluded because they contained no reports on modular DMC systems, whereas other three were not included because they focused on biomechanical aspects. Among the 11 included articles, 2 were prospective case series, 9 were retrospective case series. True dislocation occurred in 25 cases (0.9%), and six of them were solved by closed reduction without necessity of revision, while all 5 intraprosthetic dislocations were operated.

Conclusions

Modular DMCs are a valid method to deal with complex THA instability, with good clinical and patient-reported outcomes, low complication rates, and low revision rates at early follow-up. We would advise cautious optimism on the role of modular DMC implants, as it seems safer to use ceramic instead of metallic heads whenever possible to avoid the increase cobalt and chromium trace ion serum levels.
Orphan medical devices have come a long way
Authors: Dooms M.
Published: April 2023

Background

In many countries worldwide orphan drug regulations are installed but only the United States of America and Japan have an orphan device regulation. For many years surgeons have used off-label or self-assembled medical devices for the prevention, diagnosis or treatment of rare disorders. Four examples are given: an external cardiac pacemaker, a metal brace for clubfoot in newborns, a transcutaneous nerve stimulator and a cystic fibrosis mist tent.

Conclusion

In this article we argue that we need authorized medical devices as well as medicinal products to prevent, diagnose and treat patients with life-threatening or chronically debilitating disorders with a low prevalence/incidence. Several arguments are given to support this statement.
Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report
Authors: Guzmán Guillermo Edinson , Madariaga Ithzayana , Vargas Carlos Julio , Galeano Laura Ballen , Guerra Maria Angélica , Nastasi Jose Antonio
Published: April 2023

Background

Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus. The 17q12 deletion syndrome is a cause of maturity-onset diabetes of the young subtype 5 that should be considered.

Case presentation

We present the case of a 35-year-old Hispanic female patient with a history of bicornuate uterus and polycystic renal disease that required kidney transplant. She had insulin-dependent diabetes, with her mother, maternal grandmother, and great-grandmother showing a similar clinical manifestation. Molecular analysis showed a deletion in chromosome 17q12 involving 15 genes, including HNF1B. Therefore, a diagnosis of deletion syndrome was made.

Conclusions

The 17q12 deletion syndrome represents a rare genetic syndrome that involves different genes, including HNF1B. Principally, it is characterized by the combination of genitourinary tract malformations and diabetes mellitus, similar to our patient.
Psychometric evaluation of the WHODAS 2.0 and prevalence of disability in a Swedish general population
Authors: Norén Paulina , Karlsson Jan , Ohlsson-Nevo Emma , Möller Margareta , Hermansson Liselotte
Published: April 2023

Background

The World Health Organization Disability Assessment Schedule (WHODAS 2.0) is a generic questionnaire that captures health and disability-related functioning information corresponding to six major life domains: Cognition, Mobility, Self-care, Getting along, Life activities, and Participation. The WHODAS 2.0 is used in a wide range of international clinical and research settings. A psychometric evaluation of WHODAS 2.0, Swedish version, in the general population is lacking, together with national reference data to enable interpretation and comparison. This study aims to evaluate the psychometric properties of the Swedish 36-item version of WHODAS 2.0 and describe the prevalence of disability in a Swedish general population.

Methods

A cross-sectional survey was performed. Internal consistency reliability was assessed with Cronbach’s alpha. The construct validity was evaluated with item-total correlation, Pearson’s correlation between the WHODAS 2.0 domains and the RAND-36 subscales, analysis of known groups by one-way ANOVA, and analysis of the factor structure by confirmatory factor analysis.

Results

Three thousand four hundred and eighty two adults aged 19–103 years (response rate 43%) participated. Significantly higher degrees of disability were reported by the oldest age group (≥ 80 years), adults with a low level of education, and those on sick leave. Cronbach’s alpha was from 0.84 to 0.95 for the domain scores and 0.97 for the total score. The item-scale convergent validity was satisfactory, and the item-scale discriminant validity was acceptable except for the item about sexual activity. The data partially supported the factor structure, with borderline fit indices.

Conclusion

The psychometric properties of the self-administered Swedish 36-item version of the WHODAS 2.0 are comparable to those of other language versions of the instrument. Data of the prevalence of disability in Swedish general population enables normative comparisons of WHODAS 2.0 scores of individuals and groups within clinical practice. The instrument has certain limitations that could be improved on in a future revision. The test–retest reliability and responsiveness of the Swedish version of WHODAS 2.0 for different somatic patient populations remain to be evaluated.
Validation of a preoperative formula to estimate postoperative pelvic sagittal alignment and mobility before performing total hip arthroplasty for patients with hip osteoarthritis
Authors: Tanabe Hiroki , Homma Yasuhiro , Yanagisawa Naotake , Watari Taiji , Ishii Seiya , Shirogane Yuichi , Baba Tomonori , Kaneko Kazuo , Ishijima Muneaki
Published: April 2023

Background

Although it is important to consider pelvic alignment and mobility in the standing and sitting positions before THA, it is not known how to preoperatively predict individual postoperative pelvic alignment and mobility. The purpose of this study was to investigate the pelvic alignment and mobility before and after THA, and to develop a predictive formula using preoperative factors to calculate postoperative sagittal alignment and mobility.

Methods

One hundred seventy patients were assessed. The 170 patients were randomly divided into a prediction model analysis group (n = 85) and an external validation group (n = 85). In the prediction model analysis group, preoperative spinopelvic parameters were used to develop the predictive formulas to predict the postoperative sacral slope (SS) in standing and sitting positions and ΔSS. These were applied to the external validation group and assessed.

Results

R2 in multiple linear regression models for postoperative SS in standing, SS in sitting and ΔSS were 0.810, 0.672, and 0.423, respectively. The values of predicted and postoperative parameters were very close with no significant difference: SS in standing (33.87 vs. 34.23, P = 0.834), SS in sitting (18.86 vs. 19.51, P = 0.228), and ΔSS (15.38 vs. 14.72, P = 0.619).

Conclusion

The present study showed that the pelvic alignment and mobility after THA can be predicted using preoperative factors. Although a model with higher accuracy is needed, it is important to use a predictive formula to estimate the postoperative condition before performing THA.
Could eggshell membrane be an adjuvant for recombinant Hepatitis B vaccine?: A preliminary investigation
Authors: Joshua Parker Elijah , Ilo Charity Chinyere , Ukachukwu Uzochukwu Gospel , Odimegwu Damian Chukwu , Asomadu Rita Onyekachukwu , Ezeorba Timothy Prince Chidike
Published: April 2023

Background

Despite the invasiveness of the Hepatitis B infection, its vaccines are only formulated with FDA-approved alum-based adjuvants, which poorly elicit a lasting immune response, hence the need for a more effective adjuvant system. This study evaluated the immunogenicity and toxicity of eggshell membranes (ESM) when administered as an adjuvant for the recombinant HBV vaccine (rHBsAg) in albino mice. Differential white blood cell analysis, as well as the titer measurement of Immunoglobulin G, subclass G1 and G2a on indirect ELISA, was performed to measure the immune-modulatory potentials of ESM. Moreover, analysis of the liver marker enzyme (AST and ALT) and body/liver weights was performed to ascertain the toxicity level of ESM. Finally, Immuno-informatic analysis was used to investigate the immune-modulatory potential of individual member proteins of ESM.

Results

Our results showed a significant improvement in the experimental group's lymphocyte count after boost-dose administration compared to the controls, whereas there was no significant change in the granulocyte population. Furthermore, the formulations (ESM-rHBsAg) significantly improved IgG and IgG1 titers after each successive immunization. Body/liver weight and liver function showed ESM non-toxic to mice. The immunoinformatic analysis discovered ovalbumin, lysozyme-C, and UFM-1 as the member proteins of ESM with immune-modulatory activities of activating antigen-presenting cells (APC).

Conclusion

This study has provided a clue into the potential valorization of eggshell membranes and their peptides as an adjuvant for vaccines such as HBV. We recommend more in-depth molecular analysis to support our findings as well as foster real-life application.
HIV Prevalence and Characteristics Among Patients With AIDS-Defining and Non–AIDS-Defining Cancers in a Tertiary Hospital in Kenya
Authors: Muturi Diana , Mwanzi Sitna N. , Riunga Felix M. , Shah Jasmit , Shah Reena
Published: April 2023

PURPOSE

Antiretroviral therapy (ART) has resulted in a higher life expectancy of persons living with HIV. This has led to an aging population at risk for both non–AIDS-defining cancers (NADCs) and AIDS-defining cancers (ADCs). HIV testing among patients with cancer in Kenya is not routinely performed, making its prevalence undefined. The aim of our study was to determine the prevalence of HIV and the spectrum of malignancies among HIV-positive and HIV-negative patients with cancer attending a tertiary hospital in Nairobi, Kenya.

MATERIALS AND METHODS

We conducted a cross-sectional study between February 2021 and September 2021. Patients with a histologic cancer diagnosis were enrolled. Demographic data and HIV- and cancer-related clinical variables were obtained. HIV pretest counseling and consent were done, and testing was performed using a fourth-generation assay. Positive results were confirmed using a third-generation assay.

RESULTS

We enrolled 301 patients with cancer; 67.8% (204 of 301) were female; the mean age was 50.7 ± 12.5 years. From our cohort, 10.6% (95% CI, 7.4 to 14.7, n = 32 of 301) of patients were HIV-positive with the prevalence of a new HIV diagnosis of 0.7% (n = 2 of 301). Of the HIV-positive patients, 59.4% (19 of 32) had a NADC. The commonest NADC was breast cancer (18.8%; 6 of 32), whereas non-Hodgkin lymphoma (18.8%; 6 of 32) and cervical cancer (18.8%; 6 of 32) were the most prevalent ADCs among HIV-positive patients.

CONCLUSION

The prevalence of HIV infection among patients with cancer was twice the Kenya national HIV prevalence. NADCs comprised a larger percentage of the cancer burden. Universal opt-out HIV testing of patients attending for cancer care regardless of cancer type may facilitate early recognition of HIV-infected patients and aid in appropriate selection of ART and cancer therapies and preventive strategies.
Consensus Molecular Subtypes as Biomarkers of Fluorouracil and Folinic Acid Maintenance Therapy With or Without Panitumumab in RAS Wild-Type Metastatic Colorectal Cancer (PanaMa, AIO KRK 0212)
Authors: Stahler Arndt , Hoppe Beeke , Na Il-Kang , Keilholz Luisa , Müller Lothar , Karthaus Meinolf , Fruehauf Stefan , Graeven Ullrich , Fischer von Weikersthal Ludwig , Goekkurt Eray , Kasper Stefan , Kind Andreas Jay , Kurreck Annika , Alig Annabel Helga Sophie , Held Swantje , Reinacher-Schick Anke , Heinemann Volker , Horst David , Jarosch Armin , Stintzing Sebastian , Trarbach Tanja , Modest Dominik Paul
Published: April 2023

PURPOSE

Consensus molecular subtypes (CMSs) were evaluated as prognostic and predictive biomarkers of patients with RAS wild-type metastatic colorectal cancer (mCRC) receiving fluorouracil and folinic acid (FU/FA) with or without panitumumab (Pmab) after Pmab + mFOLFOX6 induction within the randomized phase II PanaMa trial.

METHODS

CMSs were determined in the safety set (ie, patients that received induction) and full analysis set (FAS; ie, randomly assigned patients who received maintenance) and correlated with median progression-free survival (PFS) and overall survival (OS) since the start of induction or maintenance treatment and objective response rates (ORRs). Hazard ratios (HRs) and 95% CI were calculated by univariate/multivariate Cox regression analyses.

RESULTS

Of 377 patients of the safety set, 296 (78.5%) had available CMS data: CMS1/2/3/4: 29 (9.8%)/122 (41.2%)/33 (11.2%)/112 (37.8%) and unclassifiable: 17 (5.7%). The CMSs were prognostic biomarkers in terms of PFS ( P < .0001), OS ( P < .0001), and ORR ( P = .02) since the start of induction treatment. In FAS patients (n = 196), with CMS2/4 tumors, the addition of Pmab to FU/FA maintenance therapy was associated with longer PFS (CMS2: HR, 0.58 [95% CI, 0.36 to 0.95], P = .03; CMS4: HR, 0.63 [95% CI, 0.38 to 1.03], P = .07) and OS (CMS2: HR, 0.88 [95% CI, 0.52 to 1.52], P = .66; CMS4: HR, 0.54 [95% CI, 0.30 to 0.96], P = .04). The CMS interacted significantly with treatment in terms of PFS (CMS2 v CMS1/3: P = .02; CMS4 v CMS1/3: P = .03) and OS (CMS2 v CMS1/3: P = .03; CMS4 v CMS1/3: P < .001).

CONCLUSION

The CMS had a prognostic impact on PFS, OS, and ORR in RAS wild-type mCRC. In PanaMa, Pmab + FU/FA maintenance was associated with beneficial outcomes in CMS2/4, whereas no benefit was observed in CMS1/3 tumors.
Bullets and Boomerangs
Authors: Prasse-Freeman Elliott
Published: April 2023

Through digital ethnography of the mass uprising against Myanmar's early-2021 military coup, this article considers appeals to “the international community,” in which activists maneuver the simultaneous potential and peril of global entreaties, deploying a double-move of contradictory thrusts. To continue stoking the possibility of international intervention, activists reiterate demands while intensifying their affective content; conversely, they use anticipated failure of those appeals to “boomerang” them back to local publics—making the international a present-but-effaced addressee. They engage in the jouissance of abandonment, coordinate (potentially violent) tactics, shame their enemies, and engage in political debate on the objectives of their ongoing struggle. By retaining the key mediatory role vis-à-vis Myanmar publics, activists enact an alternative relationship with the international, one that invites intervention but is not dependent on it.
Time and the Rhetoric of Capital
Authors: Lee Benjamin
Published: April 2023

Lauren Berlant, Moishe Postone, and Michael Silverstein were colleagues at the University of Chicago for over thirty years. Postone was one of the leading Marxist thinkers in the world; Silverstein was the leading linguistic anthropologist of his generation; and Berlant was the most influential literary theorist of her generation. This article examines whether Marxism, semiotic linguistics, and literary studies are compatible. However, the author will go back to the “linguistic turn” and revisit some older debates about the role of rhetoric. But a revitalized rhetoric of temporality will answer the questions that Benedict Anderson raised almost forty years ago: How do the temporalities of capital and narration interact to create new social affects and emotions? What would a Marxist approach to a semiotic linguistics of affect and subjectivity look like?
Dysfunction of programmed embryo senescence is linked to genetic developmental defects
Authors: de Lope Cristina , García-Lucena Rebeca , Magariños Marta , León Yolanda , Casa-Rodríguez Nuria , Contreras Nuria , Escudero-Iriarte Carmen , Varela-Nieto Isabel , Maire Pascal , Palmero Ignacio
Published: April 2023

Developmental senescence is a form of programmed senescence that contributes to morphogenesis during embryonic development. We showed recently that the SIX1 homeoprotein, an essential regulator of organogenesis, is also a repressor of adult cellular senescence. Alterations in the SIX/EYA pathway are linked to the human branchio-oto-renal (BOR) syndrome, a rare congenital disorder associated with defects in the ears, kidneys and branchial arches. Here, we have used Six1-deficient mice, an animal model of the BOR syndrome, to investigate whether dysfunction of senescence underpins the developmental defects associated with SIX1 deficiency. We have focused on the developing inner ear, an organ with physiological developmental senescence that is severely affected in Six1-deficient mice and BOR patients. We show aberrant levels and distribution of senescence markers in Six1-deficient inner ears concomitant with defective morphogenesis of senescent structures. Transcriptomic analysis and ex vivo assays support a link between aberrant senescence and altered morphogenesis in this model, associated with deregulation of the TGFβ/BMP pathway. Our results show that misregulation of embryo senescence may lead to genetic developmental disorders, significantly expanding the connection between senescence and disease.
Atraumatic versus cutting needles in fluoroscopic lumbar puncture
Authors: Lee Dana Yen Lin , Clements Warren , Lukies Matthew
Published: April 2023

Objectives:

Atraumatic needles are known to reduce complication rates of blind lumbar punctures (LP), however, their use in fluoroscopically guided LP is less studied. This study assessed the comparative difficulty of performing fluoroscopic lumbar puncture with atraumatic needles.

Methods:

Single-centre retrospective case-control study comparing atraumatic and conventional or “cutting” needles using fluoroscopic time and radiation dose (Dose Area Product or DAP) as surrogate markers. Patients were assessed from two comparable eight-month periods before and after a policy change to primary use of atraumatic needles.

Results:

105 procedures with a cutting needle were performed in the group prior to the policy change. Median fluoroscopy time was 48 sec and median DAP was 3.14. Of 102 procedures performed in the group after the policy change, 99 were performed with an atraumatic needle and three with a cutting needle after initial attempt with an atraumatic needle. Median fluoroscopy time was 41 sec and median DAP was 3.28. The mean number of attempts was 1.02 in the cutting needle group and 1.05 in the atraumatic needle group. There was no significant difference in median fluoroscopy time, median DAP, or mean number of attempts.

Conclusion:

Fluoroscopic screening time, DAP and mean number of attempts were not significantly increased with primary use of atraumatic needles for LP. Use of atraumatic needles should be considered in fluoroscopic LP given the lower complication rates.

Advances in knowledge:

This study provides new data showing that the use of atraumatic needles does not increase the difficulty of fluoroscopically guided LP.
Acolhimento, diversidade e implementação das diretrizes curriculares nacionais no Campo de Públicas
Authors: Campana Carla , Abdal Alexandre
Published: April 2023

No presente artigo, buscamos descrever, documentar, disseminar e refletir acerca da nossa experiência como professora e professor da Oficina de Integração e Interpretação de Textos do curso de graduação em Administração Pública da Escola de Administração deEmpresas de São Paulo da Fundação Getulio Vargas. Procuramos evidenciar como a oficina contribui tanto para a implementação das Diretrizes Curriculares Nacionais no Campo de Públicas, com destaque para os objetivos de combate às desigualdades e de reconhecimento da diversidade, quanto para o acolhimento e a integração das e dos estudantes na educação superior. Para tanto,fazemos uma descrição detalhada dos principais aspectos da oficina, com base na nossa experiência em sala de aula e nos seus registros formais e informais, como o Syllabus, a programação diária, a bibliografia e os registros das atividades didáticas. A articulação desse material implicou a elaboração de cinco vinhetas que ilustram extratos de experiências educativas vivenciadas no âmbito da oficina. Concluímos o artigo ressaltando as nossas principais aprendizagens: é preciso ouvir as e os estudantes, compartilhar o protagonismo do processo de ensino-aprendizagem e observar as especificidades do processo de ingresso no ensino superior.