bluuebunny/crossref_metadata_2025 huggingface dataset:
Past eight-year malaria data in Gedeo zone, southern Ethiopia: trend, reporting-quality, spatiotemporal distribution, and association with socio-demographic and meteorological variables
Authors: Molla Eshetu , Behaksra Sinknesh Wolde , Tadesse Fitsum G. , Dugassa Sisay , Gadisa Endalamaw , Mamo Hassen
Published: January 2021

Background

Informed decision making is underlined by all tiers in the health system. Poor data record system coupled with under- (over)-reporting of malaria cases affects the country’s malaria elimination activities. Thus, malaria data at health facilities and health offices are important particularly to monitor and evaluate the elimination progresses. This study was intended to assess overall reported malaria cases, reporting quality, spatiotemporal trends and factors associated in Gedeo zone, South Ethiopia.

Methods

Past 8 years retrospective data stored in 17 health centers and 5 district health offices in Gedeo Zone, South Ethiopia were extracted. Malaria cases data at each health center with sociodemographic information, between January 2012 and December 2019, were included. Meteorological data were obtained from the national meteorology agency of Ethiopia. The data were analyzed using Stata 13.

Results

A total of 485,414 suspected cases were examined for malaria during the previous 8 years at health centers. Of these suspects, 57,228 (11.79%) were confirmed malaria cases with an overall decline during the 8-year period. We noted that 3758 suspected cases and 467 confirmed malaria cases were not captured at the health offices. Based on the health centers records, the proportions of Plasmodium falciparum (49.74%) and P. vivax (47.59%) infection were nearly equivalent (p = 0.795). The former was higher at low altitudes while the latter was higher at higher altitudes. The over 15 years of age group accounted for 11.47% of confirmed malaria cases (p < 0.001). There was high spatiotemporal variation: the highest case record was during Belg (12.52%) and in Dilla town (18,150, 13.17%, p < 0.001) which is located at low altitude. Monthly rainfall and minimum temperature exhibited strong associations with confirmed malaria cases.

Conclusion

A notable overall decline in malaria cases was observed during the eight-year period. Both P. falciparum and P. vivax were found at equivalent endemicity level; hence control measures should continue targeting both species. The noticed under reporting, the high malaria burden in urban settings, low altitudes and Belg season need spatiotemporal consideration by the elimination program.
An appraisal of clinical practice guidelines for the appropriate use of echocardiography for adult infective endocarditis—the timing and mode of assessment (TTE or TEE)
Authors: Xie Peihan , Zhuang Xiaodong , Liu Menghui , Zhang Shaozhao , Liu Jia , Liu Donghong , Liao Xinxue
Published: January 2021

Background

Echocardiography (echo) is the primary imaging modality for infective endocarditis (IE). However, the recommendations on timing and mode selection for transesophageal echocardiography (TEE) and transthoracic echocardiography (TTE) vary across guidelines, which can be confusing for clinical decision makers. In this case, we aim to appraise the quality of recommendations by appraising the quality of various guidelines.

Methods

A search of guidelines containing recommendations for the appropriate use of echo in adult IE patients published in English between 2007 and 2019 was conducted. The APPRAISAL OF GUIDELINES FOR RESEARCH & EVALUATION II (AGREE II) instrument was applied independently by two reviewers to assess the integrated quality of the identified guidelines. The recommendations of concern are extracted from related chapters.

Results

A total of 9 guidelines met the criteria, with AGREE II scores ranging from 36 to 79%, and the domain of “stakeholder involvement” received the lowest score. The most contentious issue is whether a follow-up TEE is mandatory in uncomplicated native valve IE with an initial positive TTE. Conflicting recommendations are presented with a low evidence level based on little evidence.

Conclusions

In general, the recommendations proposed in the 9 identified guidelines on the appropriate use of echo are satisfying. The guideline quality score can be taken into account by the clinicians when evaluating the recommendations for clinical decisions. Additional studies with high evidence level should be conducted on the most controversial issues of whether a subsequent TEE is mandatory in uncomplicated native valve IE with an initial positive TTE.
Increase in HIV-1-transmitted drug resistance among ART-naïve youths at the China-Myanmar border during 2009 ~ 2017
Authors: Ding Yibo , Chen Min , Wang Jibao , Yang Yuecheng , Feng Yi , Wang Lijie , Duan Song , Lin Qianru , Xing Hui , Ma Yanling , Han Mengjie , Ma Liying
Published: January 2021

Background

HIV-transmitted drug resistance (TDR) is found in antiretroviral therapy (ART)-naïve populations infected with HIV-1 with TDR mutations and is important for guiding future first- and second-line ART regimens. We investigated TDR and its effect on CD4 count in ART-naïve youths from the China-Myanmar border near the Golden Triangle to better understand TDR and effectively guide ART.

Methods

From 2009 to 2017, 10,832 HIV-1 infected individuals were newly reported along the Dehong border of China, 573 ART-naïve youths (16 ~ 25 y) were enrolled. CD4 counts were obtained from whole blood samples. HIVpolgene sequences were amplified from RNA extracted from plasma. The Stanford REGA program and jpHMM recombination prediction tool were used to determine genotypes. TDR mutations (TDRMs) were analyzed using the Stanford Calibrated Population Resistance tool.

Results

The most common infection route was heterosexuals (70.51%), followed by people who inject drugs (PWID, 19.20%) and men who have sex with men (MSM) (8.90%). The distribution of HIV genotypes mainly included the unique recombinant form (URF) (44.08%), 38.68% were CRFs, 13.24% were subtype C and 4.04% were subtype B. The prevalence of TDR increased significantly from 2009 to 2017 (3.48 to 9.48%) in ART-naïve youths (4.00 to 13.16% in Burmese subjects, 3.33 to 5.93% in Chinese subjects), and the resistance to non-nucleoside reverse transcriptase inhibitors (NNRTIs), nucleoside and nucleotide reverse transcriptase inhibitors (NRTIs), and protease inhibitors (PIs) were 3.49, 2.62, and 0.52%, respectively. Most (94.40%,n = 34) of HIV-1-infected patients with TDRM had mutation that conferred resistance to a single drug class. The most common mutations Y181I/C and K103N, were found in 7 and 9 youths, respectively. The mean CD4 count was significantly lower among individuals with TDRMs (373/mm3vs. 496/mm3,p = 0.013).

Conclusions

The increase in the prevalence of HIV-1 TDR increase and a low CD4 count of patients with TDRMs in the China-Myanmar border suggests the need for considering drug resistance before initiating ART in HIV recombination hotspots.
Point-prevalence survey of outpatient antibiotic prescription at a tertiary medical center in Sri Lanka: opportunities to improve prescribing practices for respiratory illnesses
Authors: Zhang Helen L. , Bodinayake Champica , Wijayaratne Gaya B. , Jayatissa Pasangi , Piyasiri D. L. Bhagya , Kurukulasooriya Ruvini , Sheng Tianchen , Nagahawatte Ajith , Woods Christopher , Tillekeratne L. Gayani
Published: January 2021

Background

Inappropriate antibiotic use is linked to the spread of antimicrobial resistance worldwide, but there are limited systemic data on antibiotic utilization in low- and middle-income countries. The purpose of this study was to evaluate the prevalence and patterns of antibiotic prescription in an ambulatory care setting in Sri Lanka.

Methods

This cross-sectional survey was conducted at the Outpatient Department of a public tertiary medical center in Southern Province, Sri Lanka from February to April 2019. Among consecutive outpatients presenting for care, questionnaires were verbally administered to a systematic random sample to capture information about patient demographics, illness characteristics, and visit outcomes. Prescription data were obtained from the outpatient pharmacy’s electronic prescribing system.

Results

Of 409 surveyed patients, 146 (35.7%) were prescribed an antibiotic. The most frequently prescribed agents were amoxicillin (41 patients, 28.1% of antibiotic recipients) and first-generation cephalosporins (38, 26.0%). Respiratory indications were the most common reason for antibiotic use, comprising 69 (47.3%) of all antibiotic prescriptions. Antibiotics were prescribed for 66.1% of patients presenting with cough and 78.8% of those presenting with rhinorrhea or nasal congestion. Among all antibiotic recipients, 6 (4.1%) underwent diagnostic studies.

Conclusions

A high prevalence of antibiotic prescription was observed, in particular for treatment of respiratory conditions. These data support the need for improved antimicrobial stewardship in the Sri Lankan outpatient setting.
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report
Authors: Blanchard-Rohner Geraldine , Ragotte Robert J. , Junker Anne K. , Sharma Mehul , Del Bel Kate L. , Lu Henry Y. , Erdle Stephanie , Chomyn Alanna , Gill Harinder , Tucker Lori B. , Schreiber Richard A. , Rozmus Jacob , Biggs Catherine M. , Hildebrand Kyla J. , Wu John , Stockler-Ipsiroglu Sylvia , Turvey Stuart E.
Published: January 2021

Background

KRAS (KRAS proto-oncogene, GTPase; OMIM: 190,070) encodes one of three small guanosine triphosphatase proteins belonging to the RAS family. This group of proteins is responsible for cell proliferation, differentiation and inhibition of apoptosis. Gain-of-function variants in KRAS are commonly found in human cancers. Non-malignant somatic KRAS variants underlie a subset of RAS-associated autoimmune leukoproliferative disorders (RALD). RALD is characterized by splenomegaly, persistent monocytosis, hypergammaglobulinemia and cytopenia, but can also include autoimmune features and lymphadenopathy. In this report, we describe a non-malignant somatic variant in KRAS with prominent clinical features of massive splenomegaly, thrombocytopenia and lymphopenia.

Case presentation

A now-11-year-old girl presented in early childhood with easy bruising and bleeding, but had an otherwise unremarkable medical history. After consulting for the first time at 5 years of age, she was discovered to have massive splenomegaly. Clinical follow-up revealed thrombocytopenia, lymphopenia and increased polyclonal immunoglobulins and C-reactive protein. The patient had an unremarkable bone marrow biopsy, flow cytometry showed no indication of expanded double negative T-cells, while malignancy and storage disorders were also excluded. When the patient was 8 years old, whole exome sequencing performed on DNA derived from whole blood revealed a heterozygous gain-of-function variant in KRAS (NM_004985.5:c.37G > T; (p.G13C)). The variant was absent from DNA derived from a buccal swab and was thus determined to be somatic.

Conclusions

This case of idiopathic splenomegaly in childhood due to a somatic variant in KRAS expands our understanding of the clinical spectrum of RAS-associated autoimmune leukoproliferative disorder and emphasizes the value of securing a molecular diagnosis in children with unusual early-onset presentations with a suspected monogenic origin.
Addressing inequities in maternal health among women living in communities of social disadvantage and ethnic diversity
Authors:   On behalf of the NIHR ARC South London Maternity and Perinatal Mental Health Research and Advisory Teams, Fernandez Turienzo Cristina , Newburn Mary , Agyepong Agnes , Buabeng Rachael , Dignam Amy , Abe Clotilde , Bedward Leah , Rayment-Jones Hannah , Silverio Sergio A. , Easter Abigail , Carson Lauren E. , Howard Louise M. , Sandall Jane
Published: January 2021

The response to the coronavirus outbreak and how the disease and its societal consequences pose risks to already vulnerable groups such those who are socioeconomically disadvantaged and ethnic minority groups. Researchers and community groups analysed how the COVID-19 crisis has exacerbated persisting vulnerabilities, socio-economic and structural disadvantage and discrimination faced by many communities of social disadvantage and ethnic diversity, and discussed future strategies on how best to engage and involve local groups in research to improve outcomes for childbearing women experiencing mental illness and those living in areas of social disadvantage and ethnic diversity. Discussions centred around: access, engagement and quality of care; racism, discrimination and trust; the need for engagement with community stakeholders; and the impact of wider social and economic inequalities. Addressing biomedical factors alone is not sufficient, and integrative and holistic long-term public health strategies that address societal and structural racism and overall disadvantage in society are urgently needed to improve health disparities and can only be implemented in partnership with local communities.
School trajectory disruption among adolescents living with perinatal HIV receiving antiretroviral treatments: a case-control study in Thailand
Authors: Merville Ophélie , Puangmala Patcharee , Suksawas Pranee , Kliangpiboon Woranut , Keawvilai Waraporn , Tunkam Chorkanikar , Yama Suvimon , Sukhaphan Usa , Sathan Somporn , Marasri Siriporn , Rolland-guillard Louise , Sirirungsi Wasna , Le Cœur Sophie
Published: January 2021

Background

Adolescents living with perinatal HIV often experience difficult living circumstances that can impact educational achievement and thus their transition to adult life. We explored their school trajectories and evaluated the contribution of perinatal HIV-infection, in Thailand, where education is free and compulsory until the age of 15.

Methods

We used data from the Teens Living with Antiretrovirals (TEEWA) study, a cross-sectional case-control study conducted from 2011 to 2014 in Thailand. Participants were 707 adolescents living with perinatal HIV (ALPHIV, cases) aged 12–19 receiving antiretroviral therapy in 19 hospitals throughout Thailand and 689 HIV-uninfected adolescents (controls) living in the same institutions or, for those living in family settings, randomly selected from the general population and individually matched for sex, age, and place of residence. School trajectory disruption was defined as ≥1 year of academic delay or as early school dropout (before 15 years of age). Logistic regression models were used to assess factors independently associated with disrupted school trajectory and to estimate the proportion of school disruption attributable to HIV-infection. We used multivariate imputations by chained equations (MICE) to manage missing data and performed two sensitivity analyses to evaluate the main model’s reliability.

Results

The study population’s median age was 14.5 years (58% female). School trajectory disruption was experienced by 37% of ALPHIV and 12% of the controls. After adjusting for sociodemographic factors, ALPHIV were 5 times more likely to experience disruption than controls (ORA =5.2 [3.7–7.2]). About 50% of school trajectory disruption was attributable to HIV-infection. Males and adolescents living in institutions were more likely to experience school trajectory disruption (ORA =1.8 [1.3–2.4] and ORA =11.0 [7.7–15.8], respectively). Among ALPHIV, neurocognitive difficulties and growth delay were significantly associated with disruption (ORA =3.3 [2.1–5.2] and ORA =1.8 [1.3–2.6], respectively). For those living in families, disruption was also associated with having a caregiver who had less than a secondary-level education (ORA =2.1 [1.1–3.9]) or having experienced stigmatization (ORA =1.9 [1.2–3.1]).

Conclusions

HIV and contextual factors combine to aggravate the educational disadvantage among ALPHIV. The impact of this disadvantage on their life prospects, especially regarding access to higher education and professional achievement, should be further explored.
Effects of programmatic interventions to improve the management of latent tuberculosis: a follow up study up to five months after implementation
Authors: Yanes-Lane Mercedes , Trajman Anete , Bastos Mayara Lisboa , Oxlade Olivia , Valiquette Chantal , Rufino Nathalia , Fregonese Federica , Menzies Dick
Published: January 2021

Background

Less than 19% of those needing tuberculosis (TB) preventive treatment complete it, due to losses in several steps of the cascade of care for latent TB infection. A cluster randomized trial of a programmatic public health intervention to improve management of latent TB infection in household contacts was conducted in Rio de Janeiro. Interventions included contact registry, initial and in-service training, and a TB booklet. We conducted a follow-up study starting one month after the conclusion of this trial, to measure the effect of interventions implemented, and to identify remaining barriers and facilitators to latent TB infection treatment, from different perspectives.

Methods

In two health clinics in Rio de Janeiro that received the interventions in the trial, data for the latent TB infection cascade of care for household contacts was collected over a five-month period. The number of household contacts initiating treatment per 100 index-TB patients was compared with the cascade of care data obtained before and during the intervention trial. Semi-structured open-ended questionnaires were administered to healthcare workers, household contacts and index-TB patients regarding knowledge and perceptions about TB and study interventions.

Results

In this follow-up study, 184 household contacts per 100 index-TB patients were identified. When compared to the intervention period, there were 65 fewer household contacts per 100 index-TB patients, (95% CI -115, − 15) but the number starting latent TB infection treatment was sustained (difference -2, 95% CI -8,5). A total of 31 index-TB patients, 22 household contacts and 19 health care workers were interviewed. Among index-TB patients, 61% said all their household contacts had been tested for latent TB infection. All health care workers said it was very important to test household contacts, and 95% mentioned that possessing correct knowledge on the benefits of latent TB infection treatment was the main facilitator to enable them to recommend this treatment.

Conclusion

In this follow-up study, we observed a sustained effect of interventions to strengthen the latent TB infection cascade of care on increasing the number of household contacts starting latent TB infection treatment.
The HIV epidemic in Colombia: spatial and temporal trends analysis
Authors: Montana Jhon Freddy , Ferreira Glenda Roberta Oliveira Naiff , Cunha Carlos Leonardo Figueiredo , de Queiroz Ana Angélica Rêgo , Fernandes Wellington Augusto Andrade , Polaro Sandra Helena Isse , Gonçalves Lucia Hisako Takase , Couto Danielle Costa Carrara , Gir Elucir , Reis Renata Karina , Sorensen Wiliam , Botelho Eliã Pinheiro
Published: January 2021

Background

Colombia has the fourth highest incidence rate of HIV/AIDS among all Latin American countries and it has been increasing since the 1980s. However, the number of studies that addresses this trend is limited. Here, we employed spatial and temporal trend analyses to study the behaviour of the epidemic in the Colombian territory.

Methods

Our sample included 72,994 cases of HIV/AIDS and 21,898 AIDS-related deaths reported to the National Ministry of Health between 2008 and 2016. We employed the joinpoint regression model to analyse the annual HIV/AIDS incidence and AIDS mortality rates. In the spatial analysis, we used univariate autocorrelation techniques and the Kernel density estimator.

Results

While the HIV/AIDS incidence had an increasing trend in Colombia, the AIDS mortality rate was stable. HIV/AIDS incidence and AIDS mortality showed a downward trend in the 0–14 age group. An upward trend was observed for HIV/AIDS incidence in people older than 15 years and with the highest trend in the 65 years and above group. AIDS mortality showed an increasing trend among people aged 65 years or older. The comparison between the sexes showed an upward trend of HIV/AIDS incidence in all age groups and AIDS-mortality rates in 65 years and above in men, while in women, the incidence was upward among those aged 45 years and above, and concerning the AIDS-mortality rate in the 45–64 group. The high–high clusters of HIV/AIDS incidence and AIDS mortality were located in the Andean and Caribbean regions.

Conclusion

Our study found an upward trend in HIV/AIDS incidence and a stable trend in the AIDS mortality rate in Colombia. The downward trend in HIV/AIDS incidence and AIDS mortality rate in the 0–14 age group reflects the downwards mother-to-child HIV transmission. The upward trend in HIV/AIDS incidence in older women and AIDS mortality in younger women rates, compared with men, may be due to late diagnosis and treatment. The Caribbean and the ‘coffee belt’ regions were the most impacted by the HIV epidemic, most likely due to sexual tourism. Our results provide crucial information that may help Colombian health authorities fight HIV transmission.
Prevalence and burden of obstructive lung disease in the urban poor population of Ottawa, Canada: a community-based mixed-method, observational study
Authors: Pakhale Smita , Tariq Saania , Huynh Nina , Jama Sadia , Kaur Tina , Charron Catherine , Florence Kelly , Nur Fozia , Bustamante-Bawagan Margaret ( Ella) , Bignell Ted , Boyd Robert , Haddad Joanne , Kendzerska Tetyana , Alvarez Gonzalo
Published: January 2021

Background

Globally the burden of Obstructive Lung Diseases (OLD) is growing, however its effect on urban poor populations with the high prevalence of tobacco dependence is virtually unknown. The purpose of this project is to estimate the prevalence and burden of OLD in the urban, low-income populations of Ottawa, Canada.

Methods

The study presented in this paper was part of the PROMPT (Management and Point-of-Care for Tobacco Dependence) project; a prospective cohort study in a community-based setting (n = 80) with meaningful Patient Engagement from design to dissemination. Spirometry data, standardized questionnaires and semi-structured interviews from PROMPT were interpreted to understand the lung function, disease burden and social determinants (respectively) in this population.

Results

The prevalence of OLD among those who completed spirometry (N = 64) was 45–59%. Generic and disease-specific quality of life was generally poor in all PROMPT participants, even those without OLD, highlighting the higher disease burden this vulnerable population faces. Quality of life was impacted by two major themes, including i) socioeconomic status and stress and ii) social networks and related experiences of trauma.

Conclusion

The prevalence and disease burden of OLD is significantly higher in Ottawa’s urban poor population than what is observed in the general Canadian population who smoke, suggesting an etiological role of the social determinants of health. This urges the need for comprehensive care programs addressing up-stream factors leading to OLDs, including poor access and utilization of preventive healthcare addressing the social determinants of health.

Trial registration

ClinicalTrails.gov - NCT03626064, Retrospective registered: August 2018.
Describing, analysing and understanding the effects of the introduction of HIV self-testing in West Africa through the ATLAS programme in Côte d’Ivoire, Mali and Senegal
Authors:   for the ATLAS Team, Rouveau Nicolas , Ky-Zerbo Odette , Boye Sokhna , Fotso Arlette Simo , d’Elbée Marc , Maheu-Giroux Mathieu , Silhol Romain , Kouassi Arsène Kra , Vautier Anthony , Doumenc-Aïdara Clémence , Breton Guillaume , Keita Abdelaye , Ehui Eboi , Ndour Cheikh Tidiane , Boilly Marie-Claude , Terris-Prestholt Fern , Pourette Dolorès , Desclaux Alice , Larmarange Joseph
Published: January 2021

Background

The ATLAS programme aims to promote and implement HIV self-testing (HIVST) in three West African countries: Côte d’Ivoire, Mali, and Senegal. During 2019–2021, in close collaboration with the national AIDS implementing partners and communities, ATLAS plans to distribute 500,000 HIVST kits through eight delivery channels, combining facility-based, community-based strategies, primary and secondary distribution of HIVST.

Considering the characteristics of West African HIV epidemics, the targets of the ATLAS programme are hard-to-reach populations: key populations (female sex workers, men who have sex with men, and drug users), their clients or sexual partners, partners of people living with HIV and patients diagnosed with sexually transmitted infections and their partners.

The ATLAS programme includes research support implementation to generate evidence for HIVST scale-up in West Africa.

The main objective is to describe, analyse and understand the social, health, epidemiological effects and cost-effectiveness of HIVST introduction in Côte d’Ivoire, Mali and Senegal to improve the overall HIV testing strategy (accessibility, efficacy, ethics).

Methods

ATLAS research is organised into five multidisciplinary workpackages (WPs):

Key Populations WP: qualitative surveys (individual in-depth interviews, focus group discussions) conducted with key actors, key populations, and HIVST users.

Index testing WP: ethnographic observation of three HIV care services introducing HIVST for partner testing.

Coupons survey WP: an anonymous telephone survey of HIVST users.

Cost study WP: incremental economic cost analysis of each delivery model using a top-down costing with programmatic data, complemented by a bottom-up costing of a representative sample of HIVST distribution sites, and a time-motion study for health professionals providing HIVST.

Modelling WP: Adaptation, parameterisation and calibration of a dynamic compartmental model that considers the varied populations targeted by the ATLAS programme and the different testing modalities and strategies.

Discussion

ATLAS is the first comprehensive study on HIV self-testing in West Africa. The ATLAS programme focuses particularly on the secondary distribution of HIVST. This protocol was approved by three national ethic committees and the WHO’s Ethical Research Committee.
Effects of a multi-level intervention on hookah smoking frequency and duration among Iranian adolescents and adults: an application of socio-ecological model
Authors: Aghdam Fatemeh Bakhtari , Alizadeh Nader , Nadrian Haidar , Augner Christoph , Mohammadpoorasl Asghar
Published: January 2021

Background

The present study aimed to investigate the effects of a multi-level intervention on hookah smoking frequency and duration among Iranian adolescents and adults.

Methods

In this study, two comparable cities in Iran were selected to participate in an intervention program based on a social-ecological model (SEM). In each city, 133 hookah smokers in coffee houses were selected. Environmental changes in coffee houses such as serving light foods and games were conducted. A virtual group named “no hookah” was established on the Telegram application to train participants in the intervention group. Messages, pictures, and short videos were sent to the participants through that virtual network. The frequency and duration of hookah consumption were assessed in both groups at baseline and after the intervention.

Results

The frequency of hookah consumption decreased in 72.6% of participants in the intervention group (vs. 6.3% in the control group), and the duration of hookah consumption per session decreased in 39.5% of participants in the intervention group (vs. 5.5% in the control group).

Conclusions

Using multi-level interventions through a social-ecological model can reduce hookah consumption in adults.
Hotspots of female genital mutilation/cutting and associated factors among girls in Ethiopia: a spatial and multilevel analysis
Authors: Geremew Tesfahun Taddege , Azage Muluken , Mengesha Endalkachew Worku
Published: January 2021

Background

Female genital mutilation/cutting (FGM/C) is a harmful traditional practice that violates the human rights of girls and women. It is widely practiced mainly in Africa including Ethiopia. There are a number of studies on the prevalence of FGM/C in Ethiopia. However, little has been devoted to its spatial epidemiology and associated factors. Hence, this study aimed to explore the spatial pattern and factors affecting FGM/C among girls in Ethiopia.

Methods

A further analysis of the 2016 Ethiopia Demographic and Health Survey data was conducted, and a total of 6985 girls nested in 603 enumeration areas were included in this analysis. Global Moran’s I statistic was employed to test the spatial autocorrelation, and Getis-Ord Gi* as well as Kulldorff’s spatial scan statistics were used to detect spatial clusters of FGM/C. Multilevel logistic regression models were fitted to identify individual and community level factors affecting FGM/C.

Results

Spatial clustering of FGM/C was observed (Moran’s I = 0.31, p-value < 0.01), and eight significant clusters of FGM/C (hotspots) were detected. The most likely primary SaTScan cluster was detected in the neighborhood areas of Amhara, Afar, Tigray and Oromia regions (LLR = 279.0, p < 0.01), the secondary cluster in Tigray region (LLR = 67.3, p < 0.01), and the third cluster in Somali region (LLR = 55.5, P < 0.01). In the final best fit model, about 83% variation in the odds of FGM/C was attributed to both individual and community level factors. At individual level, older maternal age, higher number of living children, maternal circumcision, perceived beliefs as FGM/C are required by religion, and supporting the continuation of FGM/C practice were factors to increase the odds of FGM/C, whereas, secondary or higher maternal education, better household wealth, and regular media exposure were factors decreasing the odds of FGM/C. Place of residency, Region and Ethnicity were also among the community level factors associated with FGM/C.

Conclusions

In this study, spatial clustering of FGM/C among girls was observed in Ethiopia, and FGM/C hotspots were detected in Afar, Amhara, Tigray, Benishangul Gumuz, Oromia, SNNPR and Somali regions including Dire Dawa Town. Both individual and community level factors play a significant role in the practice of FGM/C. Hence, FGM/C hotspots require priority interventions, and it is also better if the targeted interventions consider both individual and community level factors.
Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene
Authors: Kubota Yuta , Tanaka Kazuhiro , Hisaoka Masanori , Daa Tsutomu , Iwasaki Tatsuya , Kawano Masanori , Itonaga Ichiro , Tsumura Hiroshi
Published: January 2021

Background

It is very rare for clear cell sarcomas (CCS) to arise in the bone. During diagnosis, it is important to distinguish primary CCS of bone from bone metastasis of melanoma because this difference fundamentally changes the therapeutic options. Recently, characteristic fusion genes of CCS have been detected using reverse transcription polymerase chain reaction (RT-PCR) or direct sequencing which allowed to distinguish CCS from melanoma. However, there was no study applying these analyses with positive results. In this case, we describe the use of fusion gene analysis to diagnose a primary CCS of the bone.

Case presentation

A 36-year-old male presented with a four-months history of left knee pain. Magnetic resonance imaging showed a lesion in the left femoral medial epicondyle. Histological examination of the biopsy specimen revealed proliferating oval or rounded cells. These cells had clear cytoplasm arranged in fascicles or compact nests with frequent deposits of brown pigment. Furthermore, immunohistochemistry analysis revealed that tumor cells were positive for S-100 protein, HMB-45, Melan-A, and SOX10. It stained negative for CD34 and BRAF v600e. Conclusively, detection of theEWSR1/ATF1fusion gene using RT-PCR and direct sequencing confirmed that the lesion was a primary CCS of the bone. Wide-margin resection and reconstruction with a tumor endoprosthesis were performed.

Conclusions

Herein, we diagnosed a rare case of primary CCS of the bone by detectingEWSR1/ATF1fusion gene using RT-PCR and direct sequencing. Since fluorescence-in situ hybridization (FISH) and RT-PCR could show false positive by mainly due to technical problems, it is better to perform direct sequencing to confidently diagnose the tumor as a primary CCS especially at very rare site such as bone.
Allergen fragrance molecules: a potential relief for COVID-19
Authors: Aydın Aslı Deniz , Altınel Faruk , Erdoğmuş Hüseyin , Son Çağdaş Devrim
Published: January 2021

Background

The latest coronavirus SARS-CoV-2, discovered in China and rapidly spread Worldwide. COVID-19 affected millions of people and killed hundreds of thousands worldwide. There are many ongoing studies investigating drug(s) suitable for preventing and/or treating this pandemic; however, there are no specific drugs or vaccines available to treat or prevent SARS-CoV-2 as of today.

Methods

Fifty-eight fragrance materials, which are classified as allergen fragrance molecules, were selected and used in this study. Docking simulations were carried out using four functional proteins; the Covid19 Main Protase (MPro), Receptor binding domain (RBD) of spike protein, Nucleocapsid, and host Bromodomain protein (BRD2), as target macromolecules. Three different software, AutoDock, AutoDock Vina (Vina), and Molegro Virtual Docker (MVD), running a total of four different docking protocol with optimized energy functions were used. Results were compared with the five molecules reported in the literature as potential drugs against COVID-19. Virtual screening was carried out using Vina, molecules satisfying our cut-off (− 6.5 kcal/mol) binding affinity was confirmed by MVD. Selected molecules were analyzed using the flexible docking protocol of Vina and AutoDock default settings.

Results

Ten out of 58 allergen fragrance molecules were selected for further docking studies. MPro and BRD2 are potential targets for the tested allergen fragrance molecules, while RBD and Nucleocapsid showed weak binding energies. According to AutoDock results, three molecules, Benzyl Cinnamate, Dihydroambrettolide, and Galaxolide, had good binding affinities to BRD2. While Dihydroambrettolide and Galaxolide showed the potential to bind to MPro, Sclareol and Vertofix had the best calculated binding affinities to this target. When the flexible docking results analyzed, all the molecules tested had better calculated binding affinities as expected. Benzyl Benzoate and Benzyl Salicylate showed good binding affinities to BRD2. In the case of MPro, Sclareol had the lowest binding affinity among all the tested allergen fragrance molecules.

Conclusion

Allergen fragrance molecules are readily available, cost-efficient, and shown to be safe for human use. Results showed that several of these molecules had comparable binding affinities as the potential drug molecules reported in the literature to target proteins. Thus, these allergen molecules at correct doses could have significant health benefits.
“Brought to life through imagery” – animated graphic novels to promote empathic, patient-centred care in postgraduate medical learners
Authors: Sutherland Travis , Choi Dorothy , Yu Catherine
Published: January 2021

Background

Empathy levels decline through medical training. This has been associated with poor patient and physician outcomes, and strategies to combat this decline are increasingly recognized as critical aspects of medical education. The aim of this study was to qualitatively determine factors associated with empathy decline, and to assess the impact of a comics/graphic novel-based curriculum on enhancing empathy and a patient-centered approach to care in post-graduate medical learners.

Methods

Fourth and fifth year residents in the Adult and Pediatric Endocrinology and Metabolism Program at the University of Toronto were recruited from the 2017 cohort of the Empathy, Humanism & Comics course. Participants completed a 12-month curriculum, viewing a total of four animated graphic novels over six sessions. At the end of the course participants were interviewed either individually or in a focus group. A coding framework of emerging themes was developed based on consensus between the three authors using a qualitative descriptive approach and the constant-comparison method.

Results

Analysis of coded interview data revealed four themes. 1. The curriculum accurately reflected and addressed issues in real world medical practice; 2. The comics curriculum facilitated holistic development; 3. Participants appreciated the comics as an educational medium; 4. Participant feedback on the curriculum. The importance of empathy was noted, while participants acknowledged their own empathy decline and increased burnout. Stressors included increasing responsibility, long work hours, and competing work-life responsibilities. They felt the sessions developed resilience, an appreciation for the patient perspective, and communication skills. They appreciated the comics as a novel and engaging educational modality. Feedback on the effectiveness and relevancy of the curriculum was variable.

Conclusions

Residents appreciated sharing difficult experiences and seeking support. They acknowledged the curriculum as a commitment to wellness and felt it reduced burnout and improved empathy. The comics were viewed as an effective reminder of the patient perspective. Variable curriculum feedback highlights the challenge in designing a course for adult learners. Future investigations may include the development and incorporation of similar curricula in other post-graduate residency training programs.
Knowledge, attitudes, and understanding of probiotics among pediatricians in different regions of Saudi Arabia
Authors: Hasosah Mohammed , Qurashi Mansour , Balkhair Abdullah , Alzahrani Ziyad , Alabbasi Abdullah , Alzahrani Muhanad , Alnahdi Wejdan , Shafei Sohaib , Bafaqih Malak , Khan Muhammad
Published: January 2021

Background

Probiotics are live microorganisms that, when administered in adequate amounts, confer a health benefit upon the host. Knowledge and attitudes of health professionals have been reported to be at a medium level for probiotics. The objective was to evaluate the knowledge and practice styles about probiotics among pediatricians working in different regions of Saudi Arabia.

Methods

This cross-sectional study was conducted at pediatric hospitals in Saudi Arabia. A national survey of 550 pediatric providers (PPs) was conducted between January and March 2020 anonymously on their knowledge and practice styles regarding probiotics, and it was completed by pediatric residents (PRs), pediatric specialist (PSs), pediatric consultants (PCs), and pediatric gastroenterologists (PGs).

Results

The survey had a response rate of 82%. Among the respondents, 57.7% were aware of the probiotic’s definition. There were significant differences in the percentage of participants who had little knowledge of probiotics (P < 0.05), with the highest being PRs and the lowest being PGs. The most common probiotic used by all participants was Lactobacillus acidophilus (63.3%), and Mycobacterium avium was prescribed the least often (8.6%). Most PRs and PSs correctly reported that probiotics reduce the risk of antibiotic-induced diarrhea (74.9 and 80.2%, respectively), but there were no significant differences among them.

Conclusions

Significant differences in knowledge and practice patterns exist for probiotics. Identification of knowledge gaps may be useful to develop educational materials to improve the proper definition, knowledge, and use of probiotics.
A multi-level hypoglycemia early alarm system based on sequence pattern mining
Authors: Yu Xia , Ma Ning , Yang Tao , Zhang Yawen , Miao Qing , Tao Junjun , Li Hongru , Li Yiming , Yang Yehong
Published: January 2021

Background

Early alarm of hypoglycemia, detection of asymptomatic hypoglycemia, and effective control of blood glucose fluctuation make a great contribution to diabetic treatment. In this study, we designed a multi-level hypoglycemia early alarm system to mine potential information in Continuous Glucose Monitoring (CGM) time series and improve the overall alarm performance for different clinical situations.

Methods

Through symbolizing the historical CGM records, the Prefix Span was adopted to obtain the early alarm/non-alarm frequent sequence libraries of hypoglycemia events. The longest common subsequence was used to remove the common frequent sequence for achieving the hypoglycemia early alarm in different clinical situations. Then, the frequent sequence pattern libraries with different risk thresholds were designed as the core module of the proposed multi-level hypoglycemia early alarm system.

Results

The model was able to predict hypoglycemia events in the clinical dataset of level-I (sensitivity 85.90%, false-positive 23.86%, miss alarm rate 14.10%, average early alarm time 20.61 min), level-II (sensitivity 80.36%, false-positive 17.37%, miss alarm rate 19.63%, average early alarm time 27.66 min), and level-III (sensitivity 78.07%, false-positive 13.59%, miss alarm rate 21.93%, average early alarm time 33.80 min), respectively.

Conclusions

The proposed approach could effectively predict hypoglycemia events based on different risk thresholds to meet different prevention and treatment requirements. Moreover, the experimental results confirm the practicality and prospects of the proposed early alarm system, which reflects further significance in personalized medicine for hypoglycemia prevention.
DNA methyltransferase 3a mediates developmental thermal plasticity
Authors: Loughland Isabella , Little Alexander , Seebacher Frank
Published: January 2021

Background

Thermal plasticity is pivotal for evolution in changing climates and in mediating resilience to its potentially negative effects. The efficacy to respond to environmental change depends on underlying mechanisms. DNA methylation induced by DNA methyltransferase 3 enzymes in the germline or during early embryonic development may be correlated with responses to environmental change. This developmental plasticity can interact with reversible acclimation within adult organisms, which would increase the speed of response and could alleviate potential mismatches between parental or early embryonic environments and those experienced at later life stages. Our aim was to determine whether there is a causative relationship between DNMT3 enzyme and developmental thermal plasticity and whether either or both interact with short-term acclimation to alter fitness and thermal responses in zebrafish (Danio rerio).

Results

We developed a novel DNMT3a knock-out model to show that sequential knock-out of DNA methyltransferase 3a isoforms (DNMT3aa−/−and DNMT3aa−/−ab−/−) additively decreased survival and increased deformities when cold developmental temperatures in zebrafish offspring mismatched warm temperatures experienced by parents. Interestingly, short-term cold acclimation of parents before breeding rescued DNMT3a knock-out offspring by restoring survival at cold temperatures. DNMT3a knock-out genotype interacted with developmental temperatures to modify thermal performance curves in offspring, where at least one DNMT3a isoform was necessary to buffer locomotion from increasing temperatures. The thermal sensitivity of citrate synthase activity, an indicator of mitochondrial density, was less severely affected by DNMT3a knock-out, but there was nonetheless a significant interaction between genotype and developmental temperatures.

Conclusions

Our results show that DNMT3a regulates developmental thermal plasticity and that the phenotypic effects of different DNMT3a isoforms are additive. However, DNMT3a interacts with other mechanisms, such as histone (de)acetylation, induced during short-term acclimation to buffer phenotypes from environmental change. Interactions between these mechanisms make phenotypic compensation for climate change more efficient and make it less likely that thermal plasticity incurs a cost resulting from environmental mismatches.
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
Authors: Peluso Francesca , Palazzo Viviana , Indolfi Giuseppe , Mari Francesco , Pasqualetti Roberta , Procopio Elena , Nesti Claudia , Guerrini Renzo , Santorelli Filippo , Giglio Sabrina
Published: January 2021

Background

Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing loss type DFNB89, and mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders with microcephaly, white matter changes, and cardiac and hepatic failure in less than 30 patients.

Case presentation

We report the clinical, biochemical and molecular findings of a 14-month-old girl with severe MEH compatible clinical features, profound sensorineural hearing loss, leopard spot retinopathy, pancytopenia, and advanced liver disease with portal hypertension leading to death at the age of 30 months.

Conclusions

Whole exome sequencing identified two rare variants in KARS1 gene. Our report expands the allelic and clinical features of tRNA synthase disorders. Moreover, with our report we confirm the usefulness of WES as first tier diagnostic method in infants with complex multisystem phenotypes.
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss
Authors: Yang Guangxian , Yin Yi , Tan Zhiping , Liu Jian , Deng Xicheng , Yang Yifeng
Published: January 2021

Background

Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. In addition, the protein tyrosine phosphatase receptor type Q (PTPRQ) gene has been identified in nonsyndromic hearing loss patients with autosomal recessive or autosomal dominant inherited patterns.

Methods

A Chinese family with TBS and hearing loss was enrolled in this study. The proband was a two-month-old girl who suffered from congenital anal atresia with rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension (PH), and finger deformities. The proband’s father also had external ear deformity with deafness, toe deformities and PH, although his anus was normal. Further investigation found that the proband’s mother presented nonsyndromic hearing loss, and the proband’s mother’s parents were consanguine married. Whole-exome sequencing and Sanger sequencing were applied to detect the genetic lesions of TBS and nonsyndromic hearing loss.

Results

Via whole-exome sequencing and Sanger sequencing of the proband and her mother, we identified a novel heterozygous mutation (ENST00000251020: c.1428_1429insT, p. K478QfsX38) of SALL1 in the proband and her father who presented TBS phenotypes, and we also detected a new homozygous mutation [ENST00000266688: c.1057_1057delC, p. L353SfsX8)] of PTPRQ in the proband’s mother and uncle, who suffered from nonsyndromic hearing loss. Both mutations were located in the conserved sites of the respective protein and were predicted to be deleterious by informatics analysis.

Conclusions

This study confirmed the diagnosis of TBS at the molecular level and expanded the spectrum of SALL1 mutations and PTPRQ mutations. Our study may contribute to the clinical management and genetic counselling of TBS and hearing loss.