bluuebunny/crossref_metadata_2025 huggingface dataset:
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Authors: Ngo Julie , Prokop Jeremy W. , Umfleet Jason , Seaver Laurie H.
Published: May 2021

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a progressive disorder associated with deficiency of mitochondrial aspartyl-tRNA synthetase, a homodimer encoded by the gene DARS2. There is a wide range in age of onset of symptoms, typically from childhood to adulthood, with very few cases of infantile onset disease reported. We report a child at age 10 years with perinatal onset of symptoms evidenced by congenital microcephaly with progression to severe but non-lethal epileptic encephalopathy and spastic quadriplegia. A comprehensive epilepsy focused gene panel performed as a trio with parents detected a novel homozygous DARS2 variant. This variant is located at the dimer interface in a critical catalytic domain and is expected to result in markedly reduced enzyme activity which likely explains the severe and early onset symptoms in this case.
Adverse Neonatal Outcome are More Common among Babies Born by Cesarean Section than Naturally Born Babies at Public Hospitals in Eastern Ethiopia: A Comparative Prospective Follow-Up Study at Eastern Ethiopia
Authors: Tefera Maleda , Assefa Nega , Roba Kedir Teji , Gedefa Letta
Published: May 2021

The adverse neonatal outcome is defined as the presence of birth asphyxia, respiratory distress, birth trauma, hypothermia, meconium aspiration syndrome, neonatal intensive care admission, and neonatal death. It is a major concern in developing countries, including Ethiopia. This study tried to identify predictors of adverse neonatal outcomes at selected public hospitals in Eastern Ethiopia. A hospital-based prospective follow-up study was conducted in three public hospitals in Eastern Ethiopia from June to October 2020. A total of 2,246 laboring women and neonates born at the hospitals were enrolled in the study. Data were collected through interviews, observation checklists, and clinical chart review. Reports were presented in relative risks with 95% CIs. The overall magnitude of adverse neonatal outcome was 20.97% (95% CI: 19.33- 22.71%). It was 24.3% for babies born through cesarean section (95% CI: 21.3%, 27.5). The presence of meconium in the amniotic fluid increased the risk for neonates delivered via cesarean section (ARR, 1.52 95% CI; 1.04, 2.22). Among neonates born via vaginal delivery, the risk of adverse neonatal outcome was higher among nullipara women (ARR, 1.42 95% CI; 1.02, 1.99) and among women diagnosed with abnormal labor or pregnancy such as APH, pre-eclampsia, obstructed labor, fetal distress, and mal-presentation at admission (ARR, 1.30 95%CI; 1.01, 1.67). The risk of adverse neonatal outcome was higher among babies born through the cesarian section than those born via vaginal delivery. Abnormal labor or pregnancy and being primiparous increased the risk of adverse neonatal outcome in vaginal delivery.
Towards More Meaningful Evaluation of Cultural Heritage Programmes: Engaging Stakeholders Through Programme Modelling
Authors: Jewiss Jennifer L. , Laven Daniel N.
Published: May 2021

Recently, cultural heritage scholars and practitioners have questioned how the field evaluates heritage initiatives. This article considers how a collaborative approach to evaluation may enhance heritage initiatives, particularly at critical developmental stages in their design and implementation. We explore how recent developments in evaluation theory and practice serve interests shared by heritage programme managers, funders and other stakeholders. In particular, programme modelling techniques have proven valuable for engaging a wide array of heritage stakeholders (including staff, funders and site owners). A programme model provides a graphic representation of how a programme is intended to achieve its goals. Programme models have become prevalent in other disciplines, and many government and philanthropic funders require their inclusion in funding proposals and progress reports. However, such models—and the collaborative, stakeholder-driven processes used to develop them—are largely absent from heritage studies.

Examples from the US National Park Service ( https://www.nps.gov/aboutus/index.htm ) and Cultural Heritage without Borders-Albania ( http://chwb.org /) illustrate how these techniques serve important learning and evaluation needs identified by heritage programmes. These contrasting examples demonstrate how programme modelling can enhance programme design, communications and reflective practice among a cross-section of programmatic actors. The concluding discussion explores the implications of programme modelling for the future of heritage management.
GWENA: gene co-expression networks analysis and extended modules characterization in a single Bioconductor package
Authors: Lemoine Gwenaëlle G. , Scott-Boyer Marie-Pier , Ambroise Bathilde , Périn Olivier , Droit Arnaud
Published: May 2021

Background

Network-based analysis of gene expression through co-expression networks can be used to investigate modular relationships occurring between genes performing different biological functions. An extended description of each of the network modules is therefore a critical step to understand the underlying processes contributing to a disease or a phenotype. Biological integration, topology study and conditions comparison (e.g. wild vs mutant) are the main methods to do so, but to date no tool combines them all into a single pipeline.

Results

Here we present GWENA, a new R package that integrates gene co-expression network construction and whole characterization of the detected modules through gene set enrichment, phenotypic association, hub genes detection, topological metric computation, and differential co-expression. To demonstrate its performance, we applied GWENA on two skeletal muscle datasets from young and old patients of GTEx study. Remarkably, we prioritized a gene whose involvement was unknown in the muscle development and growth. Moreover, new insights on the variations in patterns of co-expression were identified. The known phenomena of connectivity loss associated with aging was found coupled to a global reorganization of the relationships leading to expression of known aging related functions.

Conclusion

GWENA is an R package available through Bioconductor (https://bioconductor.org/packages/release/bioc/html/GWENA.html) that has been developed to perform extended analysis of gene co-expression networks. Thanks to biological and topological information as well as differential co-expression, the package helps to dissect the role of genes relationships in diseases conditions or targeted phenotypes. GWENA goes beyond existing packages that perform co-expression analysis by including new tools to fully characterize modules, such as differential co-expression, additional enrichment databases, and network visualization.
The divergence of alternative splicing between ohnologs in teleost fishes
Authors: Wang Yuwei , Guo Baocheng
Published: May 2021

Background

Gene duplication and alternative splicing (AS) are two distinct mechanisms generating new materials for genetic innovations. The evolutionary link between gene duplication and AS is still controversial, due to utilizing duplicates from inconsistent ages of duplication events in earlier studies. With the aid of RNA-seq data, we explored evolutionary scenario of AS divergence between duplicates with ohnologs that resulted from the teleost genome duplication event in zebrafish, medaka, and stickleback.

Results

Ohnologs in zebrafish have fewer AS forms compared to their singleton orthologs, supporting the function-sharing model of AS divergence between duplicates. Ohnologs in stickleback have more AS forms compared to their singleton orthologs, which supports the accelerated model of AS divergence between duplicates. The evolution of AS in ohnologs in medaka supports a combined scenario of the function-sharing and the accelerated model of AS divergence between duplicates. We also found a small number of ohnolog pairs in each of the three teleosts showed significantly asymmetric AS divergence. For example, the well-known ovary-factor genecyp19a1ahas no AS form but its ohnologcyp19a1bhas multiple AS forms in medaka, suggesting that functional divergence between duplicates might have result from AS divergence.

Conclusions

We found that a combined scenario of function-sharing and accelerated models for AS evolution in ohnologs in teleosts and rule out the independent model that assumes a lack of correlation between gene duplication and AS. Our study thus provided insights into the link between gene duplication and AS in general and ohnolog divergence in teleosts from AS perspective in particular.
Lanthanum (La) improves growth, yield formation and 2-acetyl-1-pyrroline biosynthesis in aromatic rice (Oryza sativa L.)
Authors: Luo Haowen , Chen Yulin , He Longxin , Tang Xiangru
Published: May 2021

Background

Lanthanum (La) is a rare earth element that can influence plant growth and development. However, the effect of La on growth, yield formation and 2-acetyl-1-pyrroline (2-AP, a key compound responsible for the aroma of rice) biosynthesis in aromatic rice (Oryza sativa L. subsp. japonica Kato) has not been reported. Therefore, the present study investigated the effects of La on growth, photosynthesis, yield formation and 2-AP biosynthesis in aromatic rice through three experiments.

Results

Two pot experiments and a two-year field trial were conducted with different rates of La application (20–120 LaCl3 mg kg−1 and 12 kg ha−1 LaCl3), and treatments without La application were used as controls. The results showed that the application of LaCl3 at 80 and 100 mg kg−1 and at 12 kg ha−1 greatly increased the 2-AP content (by 6.45–43.03%) in aromatic rice seedlings and mature grains compared with the control. The La treatments also increased the chlorophyll content, net photosynthetic rate and total aboveground biomass of rice seedlings. Higher antioxidant enzyme (superoxide, peroxidase, and catalase) activity was detected in the La treatments than in the control. The La treatments also increased the grain yield, grain number per panicle and seed-setting rate of aromatic rice relative to the control. Moreover, the grain proline and γ-aminobutyric acid contents and the activity of betaine aldehyde dehydrogenase significantly decreased under the La treatment. The application of La to soil enhanced the activity of proline dehydrogenase by 20.62–56.95%.

Conclusions

La improved the growth, yield formation and 2-AP content of aromatic rice and enhanced 2-AP biosynthesis by increasing the conversion of proline to 2-AP and decreasing the conversion of GABald to GABA.
RUS6, a DUF647-containing protein, is essential for early embryonic development in Arabidopsis thaliana
Authors: Perry Nathaniel , Leasure Colin D. , Tong Hongyun , Duarte Elias M. , He Zheng-Hui
Published: May 2021

Background

The Arabidopsis RUS (ROOT UV-B SENSITIVE) gene family contains six members, each of which encodes a protein containing a DUF647 (domain of unknown function 647) that is commonly found in eukaryotes. Previous studies have demonstrated that RUS1 and RUS2 play critical roles in early seedling development. All six RUS genes are expressed throughout the plant, but little is known about the functional roles of RUS3, RUS4, RUS5 and RUS6.

Results

We used a reverse-genetic approach to identify knockout mutants for RUS3, RUS4, RUS5 and RUS6. Each mutant was confirmed by direct DNA sequencing and genetic segregation analysis. No visible phenotypic differences were observed in rus3, rus4, or rus5 knockout mutants under standard growth conditions, but rus6 knockout mutants displayed a strong embryo-lethal phenotype. Two independent knockout lines for RUS6 were characterized. The rus6 mutations could only be maintained through a heterozygote, because rus6 homozygous mutants did not survive. Closer examinations of homozygous rus6 embryos from rus6/ + parent plants revealed that RUS6 is required for early embryo development. Loss of RUS6 resulted in embryo lethality, specifically at the mid-globular stage. The embryo-lethality phenotype was complemented by a RUS6::RUS6-GFP transgene, and GFP signal was detected throughout the embryo. Histological analyses with the β-glucuronidase reporter gene driven by the RUS6 promoter showed tissue- and development-specific expression of RUS6, which was highest in floral tissues.

Conclusion

Our data revealed that RUS6 is essential for early embryo development in Arabidopsis, and that the RUS gene family functions in multiple stages of plant development.
A qualitative assessment in acceptability and barriers to use pre-exposure prophylaxis (PrEP) among men who have sex with men: implications for service delivery in Vietnam
Authors: Nguyen Long Hoang , Nguyen Huong Lan Thi , Tran Bach Xuan , Larsson Mattias , Rocha Luis E. C. , Thorson Anna , Strömdahl Susanne
Published: May 2021

Background

HIV Pre-exposure prophylaxis (PrEP) is being considered for implementation among MSM nationwide in Vietnam. However, there may be concerns about potential obstacles for PrEP adherence among Vietnamese MSM. This study aims to assess the acceptability to use PrEP, potential barriers and facilitators, and the preferences for PrEP service accessibility and delivery among Vietnamese MSM.

Methods

Four focus group discussions (FGDs) were conducted with 30 HIV-negative MSM in January 2018 in Hanoi, Vietnam. FGDs explored MSM’s awareness regarding PrEP, perceived benefits and barriers of PrEP use, and willingness to use PrEP. FGDs were audio-recorded and transcribed verbatim. Content analysis was used.

Results

The mean age of participants was 23.9 years old. Most participants realized the advantages of PrEP given its efficacy in HIV risk reduction and expressed high motivation and interest to use PrEP in the future. PrEP was considered as a supplement alongside condoms. Common concerns about PrEP included side-effects, forgetting to take the pill daily, stigmatization due to using PrEP, negative attitudes toward PrEP from other MSM and accessibility of PrEP. Participants would prefer an injectable PrEP regime if available as it was seen as easier to adhere to. Concerns were also raised that PrEP usage could be interpreted as an indication of engaging in sexual risk behavior for HIV, potentially causing suspicion in love relationships or by family and friends. Participants preferred to receive PrEP in civil business organizations and MSM-friendly clinics, and recommended that pharmacy stores would not be suitable for PrEP implementation due to lack of trust and fear of fake drugs.

Conclusion

This study indicated a high level of willingness to use PrEP among MSM in Vietnam in combination with condom. Strategies to raise awareness of PrEP, reduce stigma towards PrEP, and improve the accessibility among MSM in Vietnam is needed. Existing MSM-friendly clinics were recommended to implement PrEP programs in Vietnam.
Sociodemographic determinants and clinical risk factors associated with COVID-19 severity: a cross-sectional analysis of over 200,000 patients in Tehran, Iran
Authors: Sohrabi Mohammad-Reza , Amin Rozhin , Maher Ali , Bahadorimonfared Ayad , Janbazi Shahriar , Hannani Khatereh , Kolahi Ali-Asghar , Zali Ali-Reza
Published: May 2021

Background

Defining socio-demographic factors, clinical presentations and underlying diseases associated with COVID-19 severity could be helpful in its management. This study aimed to further clarify the determinants and clinical risk factors of the disease severity in patients infected with COVID-19.

Methods

A multi-centre descriptive study on all patients who have been diagnosed with COVID-19 in the province of Tehran from March 2020 up to Dec 2020 was conducted. Data on socio-demographic characteristics, clinical presentations, comorbidities, and the health outcomes of 205,654 patients were examined. Characteristics of the study population were described. To assess the association of study variables with the disease severity, the Chi-Squared test and Multiple Logistic Regression model were applied.

Results

The mean age of the study population was 52.8 years and 93,612 (45.5%) were women. About half of the patients have presented with low levels of blood oxygen saturation. The ICU admission rate was 17.8% and the overall mortality rate was 10.0%. Older age, male sex, comorbidities including hypertension, cancer, chronic respiratory diseases other than asthma, chronic liver diseases, chronic kidney diseases, chronic neurological disorders, and HIV/AIDS infection were risk markers of poor health outcome. Clinical presentations related with worse prognosis included fever, difficulty breathing, impaired consciousness, and cutaneous manifestations.

Conclusion

These results might alert physicians to pay attention to determinants and risk factors associated with poor prognosis in patients with COVID-19. In addition, our findings aid decision makers to emphasise on vulnerable groups in the public health strategies that aim at preventing the spread of the disease and its mortalities.
Analysis of chronic kidney disease among national hospitalization data with 14 million children
Authors: Shi Xinmiao , Shi Ying , Zhang Luxia , Gan Lanxia , Zhong Xuhui , Huang Yuming , Yao Chen , Wang Yanfang , Dong Chongya , Liu Beini , Wang Fang , Wang Haibo , Ding Jie
Published: May 2021

Background

The main purpose was to determine basic epidemiological data on CKD among hospitalized pediatric patients in China.

Methods

Data from pediatric inpatients with CKD hospitalized from June 1, 2013 to May 31, 2017 were extracted from the electronic records of HQMS database, which includes over 14 million inpatients. Codes from the 10th revision of the International Classification of Diseases (ICD-10) were used to search the database.

Results

A total of 524 primary diseases of CKD were included in this study. In all, there were 278 231 pediatric inpatients with CKD, which accounted for 1.95 % of the 14 250 594 pediatric inpatients registered in the HQMS database. The number of pediatric inpatients with CKD was 67 498 in 2013, 76 810 in 2014, 81 665 in 2015 and 82 649 in 2016, which accounted for 1.93 %, 1.93 %, 1.99 and 2.09 %, respectively, of the total population of pediatric inpatients. The etiology of CKD was secondary nephrosis in 37.95 % of cases, which ranked first and followed by CAKUT with a percentage of 24.61 %. Glomerular diseases and cystic kidney disease accounted for 21.18 and 5.07 %, respectively. Among all 278 231 patients, 6 581 (2.37 %) had a primary discharge diagnosis of CKD. The renal pathology findings of CKD showed that IgA accounted for 51.17 %.

Conclusions

This study provides a descriptive analysis of the hospitalized population of pediatric CKD patients. Our study provides important, fundamental data for policy making and legislation, registry implementation and the diagnosis, treatment and prevention of CKD in China.
Primary intracranial germ cell tumour originating from right brachium Pontis with hypertrophic Olivary degeneration: a case report
Authors: Li Yanong , Wang Peng , Feng Jin , Wang Jiayi , Zhang Jing , Qiu Xiaoguang
Published: May 2021

Background

Primary right brachium pontis germinoma with hypertrophic olivary degeneration (HOD) is extremely rare. A preoperative diagnosis is challenging due to the absence of characterized clinical and neuroimaging features, and biopsy should be considered.

Case presentation

A 20-year-old male patient presented with a case of primary intracranial germinoma originating from right brachium pontis with HOD manifesting as ocular myoclonus, nystagmus in both eyes, ataxic gait and incoordination of the limbs. Magnetic resonance imaging (MRI) revealed an irregular patchy lesion with hyperintensity on T2-weighted images (T2WI) and T2 fluid-attenuated inversion recovery (FLAIR) without enhancement by gadolinium (Gd). Furthermore, a focal hyperintense nodule on T2WI in the left inferior olive nucleus (ION) of the medulla oblongata was considered hypertrophic olivary degeneration (HOD) based on the patient’s symptoms and neuroimaging findings. Due to suspected demyelinating disease and low-grade glioma (LGG), a biopsy was planned. The pathological diagnosis was germinoma. Subsequently, he received chemoradiation therapy, resulting in the improvement of neurological deficits and the disappearance of the lesion on MRI.

Conclusion

A case of “Primary right brachium pontis germinoma with HOD” is reported for the first time. A preoperative diagnosis is challenging due to the fact of absence of clinical signs and symptoms and neuroimaging characteristics. However, patients can have favourable prognoses with appropriate evaluation and treatment.
IQGAP2 acts as an independent prognostic factor and is related to immunosuppression in DLBCL
Authors: Tang Tianjiao , Wang Jing , Zhang Lidan , Cheng Ying , Saleh Laura , Gu Yanni , Zhang Hongbin
Published: May 2021

Background

Almost one-third of patients with diffuse large B-cell lymphoma (DLBCL) cannot be cured with initial therapy and will eventually succumb to the disease. Further elaboration of prognostic markers of DLBCL will provide therapeutic targets. IQ motif-containing GTPase activating protein 2 (IQGAP2) acts as a tumour suppressor in hepatocellular, prostate, and gastric cancers. However, the role of IQGAP2 in DLBCL remains unclear.

Methods

We collected mRNA expression data from 614 samples and the corresponding clinical information. The survival time of patients was compared between groups according to the mRNA expression level of IQGAP2. Survival analyses were performed in different subgroups when considering the effect of age, tumour stage, serum lactate dehydrogenase (LDH) concentration, performance status, and the number of extra nodal disease sites. The biological processes associated with IQGAP2-associated mRNAs were analysed to predict the function of IQGAP2. The correlation of IQGAP2 mRNA with immunosuppressive genes and leukocyte infiltration were analysed.

Results

The overall survival of patients with increased IQGAP2 mRNA levels was reduced even after aggressive treatment independent of age, tumour stage, serum LDH concentration, performance status, and the number of extra nodal disease sites. Furthermore, the biological processes of IQGAP2-associated mRNAs were mainly immune processes. IQGAP2 mRNA expression was correlated with the expression of immunosuppressive genes and leukocyte infiltration.

Conclusion

IQGAP2 mRNA is an independent prognostic factor and is related to immunosuppression in DLBCL. This discovery may provide a promising target for further development of therapy.
Circular RNA circSMARCA5 is a prognostic biomarker in patients with malignant tumor: a meta-analysis
Authors: Chao Fan , Wang Shiyu , Zhang Cong , Han Dunsheng , Ma Zhe , Chen Gang
Published: May 2021

Background

Malignant tumor is one of the most serious diseases endangering human health. Circular RNAs play an important role in the tumorigenesis and progression of various malignant tumors. Although various studies have investigated the biological function of circular RNA circSMARCA5 in malignant tumors, the prognostic value of circSMARCA5 in malignant tumor patients has not been systematically analyzed.

Methods

Relevant studies were obtained from the PubMed and Web of Science database. The quality of the enrolled studies was evaluated using the Newcastle-Ottawa Scale quality assessment system. Survival features and clinicopathological features were assessed using pooled hazard ratios and odds ratios with 95% confidence intervals, respectively.

Results

Overall, 7 relevant publications were enrolled in the meta-analysis. CircSMARCA5 expression was significantly correlated with better OS (HR = 0.51, 95%CI 0.41–0.65) or DFS/RFS/PFS (HR = 0.56, 95%CI 0.43–0.73) in malignant tumors. In the pooled analyses of clinicopathological characteristics, malignant tumors with higher circSMARCA5 were better differentiated (OR = 0.41, 95%CI 0.19–0.88). CircSMARCA5 expression was correlated with less advanced TNM stage (OR = 0.33, 95%CI 0.19–0.55). Moreover, malignant tumors with higher circSMARCA5 expression have less advanced lymph node metastasis (OR = 0.26, 95%CI 0.08–0.79).

Conclusion

These results indicated that circSMARCA5 was a promising biomarker in malignant tumors, which may potentially facilitate clinical decisions in the future.
The effectiveness of NEPA in the prevention of chemotherapy-induced nausea vomiting among chemo naive patients in an Indian setting
Authors: Vaswani Bharat , Dattatreya Palanki Satya , Bhagat Sagar , Patil Saiprasad , Barkate Hanmant
Published: May 2021

Background

Chemotherapy induced nausea- vomiting (CINV) is considered as the most common, feared and most troublesome side effect of chemotherapy. NEPA (NEtupitant 300 mg + PAlonosetron 0.50 mg) is the first commercially available oral fixed-dose combination (FDC) of two active antiemetic agents in India. The present study was planned to evaluate the effectiveness of NEPA in the real world setting of India.

Methods

This was a multicentric retrospective study conducted in two centers in India. The data of all chemonaive patients, who were prescribed NEPA was analyzed. Effectiveness i.e. complete response and complete protection in controlling overall, acute and delayed phase was analyzed.

Results

A total of 329 patients were enrolled in the study. 260 received highly emetogenic chemotherapy (HEC) regimen and 69 received moderately emetogenic chemotherapy (MEC) regimen. Among all the enrolled patients, complete response in acute, delayed and overall phase was 93, 85.71 and 85.41% respectively; and completed protection was 88.44, 81.76 and 80.54% respectively. Those who received HEC regimen, the completed response and complete protection in overall phase was 84.61 and 79.61% respectively and those who received MEC regimen the completed response and complete control in overall phase was 84.05 and 84.05% respectively.

Conclusion

A single oral dose of NEPA targeting dual pathways showed effective control of nausea-vomiting in patients on the HEC and MEC regimens and had good control over nausea-vomiting in acute, delayed and overall phase of nausea-vomiting.
Long term surgical outcome for persistent pupillary membranes with associated ocular abnormalities: a retrospective case series study
Authors: Huang Yu-Te , Lin Hui-Ju
Published: May 2021

Background

Deprivation amblyopia is a great concern in hyperplastic persistent pupillary membranes (PPM) which blocked visual axis. Other ocular abnormality may accompany and further hinder the visual development of the infants.

We evaluate the long-term visual prognosis and complications in patients with dense PPM and other associated abnormalities treated with early surgical intervention and timely visual rehabilitation.

Methods

Medical records of patients with surgical removal of PPM from 2000 to 2020 and also receiving visual rehabilitation were retrospectively reviewed. Besides visual axis blocked PPM, patients combined with other amblyopic risk factors or ocular abnormalities were included.

Due to preparation for subsequent lens extraction if an underlying cataract was present, the surgical settings including the instruments and wound direction were similar to cataract surgery. All patients were enrolled in a visual rehabilitation program as soon as possible. The results including sex, age, timing of operation, initial and final visual acuity, refractive errors, and complications were recorded.

Results

Seven cases of five patients were included in this case series. Mean age at surgery was 42.3 ± 21.1 months (range, 5 to 66 months) and the post-operative follow-up period was 4.9 years (range, 1.2 to 8.2 years).

The patient age at time of surgery ranged from 2.5 months to 2.5 years (mean, 14 months). Mean postoperative follow-up was 5.3 years (range, 2.5–8 years). There were no intra-operative and post-operative complications. Final BCVA varied with a mean value of 0.29 logMAR (range, 0 to 1 logMAR). An associated ocular abnormality of ametropia and strabismus led to the best visual prognosis.

Conclusions

In patients with PPM, there were no significant complications in any patient using our technique. The surgical settings are easier to handle and more familiar with pediatric surgeons. Besides deprivation with patching, early PPM intervention and timely visual rehabilitation achieve the best visual prognosis in patients associated with risk of ametropic and strabismic amblyopia.

Trial registration

This retrospective, interventional case series study was conducted at China Medical University Hospital between April 1, 2000 and April 31, 2020. (IRB number: CMUH109-REC2–069).
The social support, mental health, psychiatric symptoms, and functioning of persons with schizophrenia participating in peer co-delivered vocational rehabilitation: a pilot study in Taiwan
Authors: Cheng Kan-Yuan , Yen Chia-Feng
Published: May 2021

Background

Vocational peer support (VPS) services are recovery-oriented interventions in modern psychiatric care for persons with schizophrenia. However, few VPS services are found in Taiwan. Hence, a pilot program of peer co-delivered vocational rehabilitation to support persons with schizophrenia in Taiwan was proposed and evaluated.

Methods

Six peers were trained and were willing to co-lead and assist workplace problem-solving groups and care skills training in an extended vocational rehabilitation program from August 2017 to December 2018. The social support, mental health, psychiatric symptoms, and functioning of service users were assessed before and after peer co-delivered services, and the assessments were based on the following: Social Support Scale (SSS), Chinese Health Questionnaire-12 (CHQ-12), Brief Psychiatric Rating Scale (BPRS), Global Assessment of Function (GAF), and the Chinese version of the Social Functioning Scale (C-SFS).

Results

The recruited 46 service users were mostly middle-aged (49.1 ± 9.8), with 27 being male (58.7%). After interventions, 42 service users who completed the program had a significantly increased SSS score (149.1 ± 31.8 vs. 161.2 ± 35.0, df = 41, t = 2.70, p = 0.01) and subscale of friend-peer dimension (44.4 ± 12.0 vs. 53.2 ± 13.2, df = 41, t = 4.72, p < 0.001). The objective (GAF: 69.8 ± 9.8 vs. 72.6 ± 8.8, df = 41, t = 3.50, p = 0.001) and subjective social functional scores (C-SFS: 75.2 ± 8.8 vs. 78.1 ± 9.5, df = 41, t = 2.59, p = 0.01) both significantly increased. The weekly wage elevated significantly (37.5 ± 35.5 vs. 43.6 ± 38.0, df = 41, t = 2.57, p = 0.01) and the BPRS-18 score decreased significantly, too (31.2 ± 6.7 vs. 29.3 ± 5.0, df = 41, t = − 2.83, p = 0.007).

Conclusions

Peer co-delivered vocational rehabilitation services may enhance the social support received by persons with schizophrenia and improve their occupational outcomes. The pilot program proposed can thus be a model for non-Western countries with limited resources allocated by governments to support persons with schizophrenia. Trial registration: ClinicalTrials NCT04767204, retrospectively registered on Feb 23, 2021.
Psychosomatic symptoms questionnaire (PSQ-39): a psychometric study among general population of Iranian adults
Authors: Heidari Zahra , Feizi Awat , Rezaei Sara , Roohafza Hamidreza , Adibi Peyman
Published: May 2021

Background

Psychosomatic symptoms, characterized by physical-bodily complaints not fully explained by organic reasons, are highly prevalent. The present study aimed to culturally adapt and evaluate the psychometric properties of Psychosomatic Symptoms Questionnaire 39-item version (PSQ-39) among Iranian general adult population.

Methods

This study included 996 Persian-speaking people, living in Isfahan, Iran. The translation of the PSQ-39 was performed using the forward-backward method. Test-retest reliability was evaluated through Intraclass correlation (ICC) coefficient and internal consistency by using Cronbach’s α. Construct validity was investigated by using both exploratory (EFA) and confirmatory (CFA) factor analysis. Short Form Health Survey (SF-36) was used to assess divergent validity. Known-group validity was also assessed.

Results

The Persian version of the PSQ-39 showed excellent test-retest reliability in all domains (ICCs: 0.95–0.99). The computed Cronbach’s alpha coefficients for domains of PSQ-39 were in the range good to excellent. The PSQ-39 showed good known-group validity and differentiated patients from the general population (Area under the curve [AUC] of 0.78 (95% CI: 0.73, 0.84). Construct validity evaluated by EFA led to extraction of seven factors (Cardiorespiratory, musculoskeletal, psychological, gastrointestinal, general, body balance and Globus), and the CFA confirmed the adequacy of extracted factors by EFA (CFI = 0.91, TLI = 0.90, PCFI = 0.77, PNFI = 0.71, CMIN = 1413.18 (df = 654), CMIN/DF = 2.16, and RMSEA = 0.06). Significant negative correlations between all domains of PSQ and SF-36 revealed an acceptable divergent Validity.

Conclusions

The Persian version of the PSQ-39 is a reliable and valid questionnaire with applicability in a broad range of Persian language populations for assessing common psychosomatic symptoms in research as well as in clinical practice.
Examining the relation between the subjective and objective social status with health reported needs and health-seeking behaviour in Dande, Angola
Authors: Rosário Edite Vila Nova , Severo Milton , Francisco Diogo , Brito Miguel , Costa Diogo
Published: May 2021

Background

Assessing subjective social status (SSS) may be easily accommodated in the context of a Health and Demographic Surveillance System (HDSS). To our knowledge, no prior studies have examined the association of SSS and health in Angola. Subjective socioeconomic measures may provide a rapid assessment of a relevant social status construct, important for studying health inequalities. In this study, we addressed social determinants of health by examining the relationship between the subjective and objective social status, reported health and healthcare-seeking behaviour.

Methods

This research results from a cross-sectional study performed during 2015 in the Dande HDSS, in Angola. We tested the application of the MacArthur scale as a measure of SSS in a developing setting, in a sample of 12,246 households. First, we investigated its relation to objective socioeconomic indicators, and then we explored how subjective and objective social status associate with health reported needs and health-seeking behaviour of the surveyed population.

Chi-square, ANOVA tests, and Receiver Operating Characteristics (ROC) Curves analysis were computed for testing relationships between subjective status ladder quartiles, sociodemographic and household characteristics. Logistic regression was used to examine the influence of subjective perception of status in self-reported health and health-seeking behaviour.

Results

Our findings suggest that the SSS follows a gradient distribution obtained with more objective socioeconomic indicators. Additionally, we found that subjective perception of status influence health needs reporting and health-seeking behaviour and its significant effect remained after controlling for the objective socioeconomic markers. Individuals standing in the second quartile of the social ladder have more odds of reporting illness and those in the highest quartiles of the ladder were twice more likely (OR = 2.23, 95% CI = 1.52–3.26) to seek help from formal health services than those at the bottom of the ladder.

Conclusions

The MacArthur Scale is a valuable tool to measure SSS in the Dande HDSS, relevant for studying socioeconomic disparities and health inequalities. It is also an easier alternative to traditional measures such as income, usually difficult to measure in developing settings. The social perception of status should be considered as a complement with objective indicators when exploring social determinants of health.
ADVANCE integrated group intervention to address both substance use and intimate partner abuse perpetration by men in substance use treatment: a feasibility randomised controlled trial
Authors: Gilchrist Gail , Potts Laura , Radcliffe Polly , Halliwell Gemma , Dheensa Sandi , Henderson Juliet , Johnson Amy , Love Beverly , Gilchrist Elizabeth , Feder Gene , Parrott Steve , Li Jinshuo , McMurran Mary , Kirkpatrick Sara , Stephens-Lewis Danielle , Easton Caroline , Berbary Cassandra , Landau Sabine
Published: May 2021

Background

Substance use is a risk factor for intimate partner abuse (IPA) perpetration. Delivering perpetrator interventions concurrently with substance use treatment shows promise.

Methods

The feasibility of conducting an efficacy and cost-effectiveness trial of the ADVANCE 16-week intervention to reduce IPA by men in substance use treatment was explored. A multicentre, parallel group individually randomised controlled feasibility trial and formative evaluation was conducted. Over three temporal cycles, 104 men who had perpetrated IPA towards a female (ex) partner in the past year were randomly allocated to receive the ADVANCE intervention + substance use treatment as usual (TAU) (n = 54) or TAU only (n = 50) and assessed 16-weeks post-randomisation. Participants’ (ex) partners were offered support and 27 provided outcome data. Thirty-one staff and 12 men who attended the intervention participated in focus groups or interviews that were analysed using the framework approach. Pre-specified criteria assessed the feasibility of progression to a definitive trial: 1) ≥ 60% of eligible male participants recruited; 2) intervention acceptable to staff and male participants; 3) ≥ 70% of participants followed-up and 4) levels of substance use and 5) IPA perpetrated by men in the intervention arm did not increase from average baseline level at 16-weeks post-randomisation.

Results

70.7% (104/147) of eligible men were recruited. The formative evaluation confirmed the intervention’s acceptability. Therapeutic alliance and session satisfaction were rated highly. The overall median rate of intervention session attendance (of 14 compulsory sessions) was 28.6% (range 14.3–64.3% by the third cycle). 49.0% (51/104) of men and 63.0% (17/27) of their (ex) partners were followed-up 16-weeks post-randomisation. This increased to 100% of men and women by cycle three. At follow-up, neither substance use nor IPA perpetration had worsened for men in the intervention arm.

Conclusions

It was feasible to deliver the ADVANCE intervention in substance use treatment services, although it proved difficult to collect data from female (ex)partners. While some progression criteria were met, others were not, although improvements were demonstrated by the third cycle. Lessons learned will be implemented into the study design for a definitive trial of the ADVANCE intervention.

Trial registration

ISRCTN79435190 prospectively registered 22nd May 2018.
The influence of preoperative knee flexion contracture severity on short-term outcome of orthopedic surgery in ambulatory children with bilateral cerebral palsy
Authors: Pantzar-Castilla Evelina , Chen Brian Po-Jung , Miller Freeman , Riad Jacques
Published: May 2021

Background

Indications and cutoff value of deformities to determine surgical procedures for flexed knee gait are not clear. The aim was to determine the influence of none or mild, and moderate preoperative knee flexion contracture on the improvement of gait after orthopedic surgery in children with bilateral cerebral palsy (CP).

Methods

Inclusion criteria; bilateral CP, Gross Motor Function Classification System level I-III, and pre- and post operative-gait analysis. The 132 individuals identified were categorized into 2 groups based on the severity of knee flexion contracture (group 1: none or less than 11°; group 2: greater than or equal to 11°), and then matched according to the exact same soft tissue and/or bony orthopedic surgical procedures performed. The indication for surgery was to prevent progressive development of knee flexion contracture and stance phase flexed knee gait. Pre- and postoperative physical examination and gait analysis data were analyzed retrospectively.

Results

Sixty (30 + 30) children, with mean age 10.6 years in each group, were included. The average follow-up time was 17 months.

Gait Deviation Index (GDI) improved in group 1 from mean 66 (SD 19) to 74 (15), p = 0.004, and in group 2 from 60 (13) to 69 (15), p = 0.001. Knee flexion in stance improved in group 1 from 21.4 (16.1) to 12.1 (16.0) degrees, p = 0.002, and in group 2 from 32.2 (14.2) to 17.0 (15.9), p = 0.001. Step length improved in both groups, p = 0.017 and p = 0.008, respectively.

Only in group 2 significant improvement was noted in walking speed, p = 0.018 and standing function, Gross Motor Function Measure (GMFM-D), p = 0.001. Knee flexion contracture decreased in group 1 from mean 4.6 (5.3) to 2.1 (8.3) degrees, p = 0.071 and in group 2 from 17.2 (4.9) to 9.6 (9.3), p = 0.001.

There was no statistical difference between groups in pre-post improvement of GDI or other variables, except GMFM-D.

Conclusions

Relative mild to moderate preoperative knee flexion contracture does not influence the short-term improvement of gait after orthopedic surgery in children with bilateral CP.
Metastatic renal cell carcinoma to pancreas and gastrointestinal tract: a clinicopathological study of 3 cases and review of literature
Authors: Abdul-Ghafar Jamshid , Ud Din Nasir , Saadaat Ramin , Ahmad Zubair
Published: May 2021

Background

Renal Cell Carcinoma (RCC) metastasizes in approximately 20–30% cases. The most common sites for metastases are the lungs, bones, liver, and brain. Metastases of RCC in the gastrointestinal tract (GIT) are very rare. Metastatic RCC has a poor prognosis. We herein present a case series of three patients with metastatic disease in the colon, duodenum, and pancreas following complete resection of RCC.

Methods

Hematoxylin and Eosin and immunohistochemical slides of 3 cases of RCC metastatic to GIT were reviewed. These cases were diagnosed between 2002 and 2019 at French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan, and Aga Khan University Hospital (AKUH), Karachi, Pakistan. We also present a detailed review of published literature.

Results

We reviewed cases of three patients, two females and one male, with a mean age of 57.3 years (range 40–67 years) who underwent nephrectomy for RCC. They developed metastases in the colon, pancreas, and duodenum, respectively 12–168 months (median time 156 months) following primary tumor resection. The patient with metastatic RCC in colon presented with abdominal pain and constipation. An ulcerated mass was found on colonoscopy 30 cm from the anal verge. Diagnosis of RCC with rhabdoid features was confirmed in both primary and metastatic tumors. The second patient developed a metastatic nodule in the head of pancreatic while the third patient developed metastatic nodules in the duodenum and pancreas which were detected by Computed Tomography (CT) scanning. Histopathological examination confirmed the presence of clear cell RCC in the metastatic nodules in both cases.

Conclusion

Metastatic RCC should be considered in the differential diagnosis of mass in the gastrointestinal (including pancreaticobiliary) tract especially in presence of a past history of RCC. These patients should be screened thoroughly by physical examination and appropriate imaging studies.
The prevalence of zinc deficiency in morbidly obese patients before and after different types of bariatric surgery
Authors: Soheilipour Fahimeh , Ebrahimian Mohammad , Pishgahroudsari Mohadeseh , Hajian Maryam , Amirkashani Davoud , Ordooei Mahtab , Radgoodarzi Mohammad , Eskandari Delaram
Published: May 2021

Background

The prevalence of obesity is considered to be increased worldwide. Lack of mineral elements is one of the essential side effects of bariatric surgery as a trending treatment for obesity. We aimed to assess zinc deficiency among morbidly obese patients before and following different types of bariatric surgical procedures.

Methods

In the present retrospective cohort study, 413 morbidly obese patients (body mass index (BMI) ≥ 40 kg/m2 or BMI ≥ 35 kg/m2 with a complication or risk factor, e.g., diabetes mellitus) were enrolled who received bariatric surgery, aged between 18 and 65 years old, and had a negative history of active consumption of alcohol and illicit drugs. Patients were assigned into three groups of bariatric surgeries: mini-gastric bypass, Roux-en-Y gastric bypass (RYGB), and sleeve gastrectomy (SG). We recorded baseline clinical and demographic characteristics and zinc serum levels during the preoperative and postoperative follow-up periods at three, six, and 12 months after the operation.

Results

All patients with a mean age of 40.57 ± 10.63 years and a mean preoperative BMI of 45.78 ± 6.02 kg/m2 underwent bariatric surgery. 10.2% of the bariatric patients experienced zinc deficiency before the surgery, and 27.1% at 1 year after the surgery. The results showed that 27.7% of mini-gastric bypass patients, 29.8% of RYGB, and 13.3% of SG experienced zinc deficiency 12 months following surgery. We observed no statistical differences in the preoperative and postoperative zinc deficiency between different types of surgeries.

Conclusion

A high prevalence of preoperative zinc deficiency among morbidly obese patients who underwent bariatric surgery was observed, which increased during the postoperative periods. We recommend assessing zinc serum levels and prescribing zinc supplements before the bariatric operation to alleviate the prevalence of zinc deficiency after the operation.
Risk of major labour-related complications for pregnancies progressing to 42 weeks or beyond
Authors: Lindquist Anthea C. , Hastie Roxanne M. , Hiscock Richard J. , Pritchard Natasha L. , Walker Susan P. , Tong Stephen
Published: May 2021

Background

Post-term gestation beyond 41+6 completed weeks of gestation is known to be associated with a sharp increase in the risk of stillbirth and perinatal mortality. However, the risk of common adverse outcomes related to labour, such as shoulder dystocia and post-partum haemorrhage for those delivering at this advanced gestation, remains poorly characterised. The objective of this study was to examine the risk of adverse, labour-related outcomes for women progressing to 42 weeks gestation or beyond, compared with those giving birth at 39 completed weeks.

Methods

We performed a state-wide cohort study using routinely collected perinatal data in Australia. Comparing the two gestation cohorts, we examined the adjusted relative risk of clinically significant labour-related adverse outcomes, including macrosomia (≥ 4500 at birth), post-partum haemorrhage (≥1000 ml), shoulder dystocia, 3rd or 4th degree perineal tear and unplanned caesarean section. Parity, maternal age and mode of birth were adjusted for using logistic regression.

Results

The study cohort included 91,314 women who birthed at 39 completed weeks and 4317 at ≥42 completed weeks. Compared to 39 weeks gestation, those giving birth ≥42 weeks gestation had an adjusted relative risk (aRR) of 1.85 (95% CI 1.55–2.20) for post-partum haemorrhage following vaginal birth, 2.29 (95% CI 1.89–2.78) following instrumental birth and 1.44 (95% CI 1.17–1.78) following emergency caesarean section; 1.43 (95% CI 1.16–1.77) for shoulder dystocia (for non-macrosomic babies); and 1.22 (95% CI 1.03–1.45) for 3rd or 4th degree perineal tear (all women). The adjusted relative risk of giving birth to a macrosomic baby was 10.19 (95% CI 8.26–12.57) among nulliparous women and 4.71 (95% CI 3.90–5.68) among multiparous women. The risk of unplanned caesarean section was 1.96 (95% CI 1.86–2.06) following any labour and 1.47 (95% CI 1.38–1.56) following induction of labour.

Conclusions

Giving birth at ≥42 weeks gestation may be an under-recognised risk factor for several important, labour-related adverse outcomes. Clinicians should be aware that labour at this advanced gestation incurs a higher risk of adverse outcomes. In addition to known perinatal risks, the risk of obstetric complications should be considered in the counselling of women labouring at post-term gestation.