scholarly journals Genotype-Phenotype Correlations in PMM2-CDG

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1658
Author(s):  
Laurien Vaes ◽  
Daisy Rymen ◽  
David Cassiman ◽  
Anna Ligezka ◽  
Nele Vanhoutvin ◽  
...  
Keyword(s):  
Retrospective Cohort ◽  
Clinical Course ◽  
Continuous Variables ◽  
Severe Phenotype ◽  
Dimerization Domain ◽  
Rating Score ◽  
Chi Square ◽  
Pathogenic Variants ◽  
Dichotomous Variables ◽  
Molecular Base

PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) and dichotomous variables reflecting the patients’ phenotype. The phenotypic effects of patients’ genotype were studied using non-parametric and Chi-Square tests. Seventeen different pathogenic variants have been studied. Variants with zero enzyme activity had no significant impact on the Nijmegen score. Pathogenic variants involving the stabilization/folding domain have a significantly lower total NPCRS (p = 0.017): presence of the p.Cys241Ser mutation had a significantly lower subscore 1,3 and NPCRS (p = 0.04) and thus result in a less severe phenotype. On the other hand, variants involving the dimerization domain, p.Pro113Leu and p.Phe119Leu, resulted in a significantly higher NPCRS score (p = 0.002), which indicates a worse clinical course. These concepts give a better insight in the phenotypic prognosis of PMM2-CDG, according to their molecular base.

Malignant thyroid teratoma: an integrated analysis of case series and case reports

2021 ◽  
Author(s):  
Huy Gia Vuong ◽  
Truong P.x. Nguyen ◽  
Hanh T.t. Ngo ◽  
Lewis Hassell ◽  
Kennichi Kakudo
Keyword(s):  
Clinical Course ◽  
Case Reports ◽  
Case Series ◽  
Seer Program ◽  
Integrated Analysis ◽  
Continuous Variables ◽  
Chi Square ◽  
Large Tumor ◽  
Exact Test

Malignant thyroid teratoma (MTT) is a very rare thyroid malignancy. These neoplasms have been reported only in case reports and small-sized case series so far. In this study, we searched for MTTs in the Surveillance, Epidemiology, and End Result (SEER) program during 1975-2016. Subsequently, we incorporated the SEER data with published MTT cases in the literature to analyze the characteristics and prognostic factors of MTTs. Integrated data were analyzed using Chi-square or Fisher’s exact test for categorical covariates, and t-test or Mann-Whitney test for continuous variables. We included 28 studies with 36 MTT cases and found additional 8 cases from the SEER program for final analyses. Our results showed that MTT is typically seen in adult females. These neoplasms were associated with an aggressive clinical course with high rates of extrathyroidal extension (80%) and nodal involvement (62%). During follow-up, the development of recurrence and metastases were common (42% and 46%, respectively), and one-third of patients died at the last follow-up. Large tumor size (p = 0.022) and the presence of metastases during follow-up (p = 0.008) were associated with a higher mortality rate. In conclusion, our study demonstrated the characteristic features of MTT patients and outlined some parameters associated with a negative outcome which could help clinicians better predict the clinical course of these neoplasms.

scholarly journals Relationship of Hydroxychloroquine and Ophthalmic Complications in Patients with Type 2 Diabetes in Taiwan

2021 ◽  
Vol 18 (15) ◽  
pp. 8154
Author(s):  
Hung-Chih Chen ◽  
Hung-Yu Lin ◽  
Michael Chia-Yen Chou ◽  
Yu-Hsun Wang ◽  
Pui-Ying Leong ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Conditional Logistic Regression ◽  
Categorical Variables ◽  
Control Group ◽  
Case Group ◽  
Research Database ◽  
Continuous Variables ◽  
Chi Square ◽  
Increased Risk

The purpose of this study is to evaluate the relationship between hydroxychloroquine (HCQ) and diabetic retinopathy (DR) via the national health insurance research database (NHIRD) of Taiwan. All patients with newly diagnosed type 2 diabetes (n = 47,353) in the NHIRD (2000–2012) were enrolled in the study. The case group consists of participants with diabetic ophthalmic complications; 1:1 matching by age (±1 year old), sex, and diagnosis year of diabetes was used to provide an index date for the control group that corresponded to the case group (n = 5550). Chi-square test for categorical variables and Student’s t-test for continuous variables were used. Conditional logistic regression was performed to estimate the adjusted odds ratio (aOR) of DR. The total number of HCQ user was 99 patients (1.8%) in the case group and 93 patients (1.7%) in the control group. Patients with hypertension (aOR = 1.21, 95% CI = 1.11–1.31) and hyperlipidemia (aOR = 1.65, 95% CI = 1.52–1.79) significantly increased the risk of diabetic ophthalmic complications (p < 0.001). Conversely, the use of HCQ and the presence of rheumatoid diseases did not show any significance in increased risk of DR. HCQ prescription can improve systemic glycemic profile, but it does not decrease the risk of diabetic ophthalmic complications.

scholarly journals Increased Hospitalization and Mortality from COVID-19 in Prostate Cancer Patients

Cancers ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1630
Author(s):  
Dimple Chakravarty ◽  
Parita Ratnani ◽  
Stanislaw Sobotka ◽  
Dara Lundon ◽  
Peter Wiklund ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Patients ◽  
Mortality Rates ◽  
Mount Sinai Hospital ◽  
Solid Cancer ◽  
Continuous Variables ◽  
Breast Cancer Patients ◽  
Chi Square ◽  
Hospital System ◽  
Tumor Types

Background: Cancer patients with COVID-19 have a poor disease course. Among tumor types, prostate cancer and COVID-19 share several risk factors, and the interaction of prostate cancer and COVID-19 is purported to have an adverse outcome. Methods: This was a single-institution retrospective study on 286,609 patients who underwent the COVID-19 test at Mount Sinai Hospital system from March 2020 to December 2020. Chi-square/Fisher’s exact tests were used to summarize baseline characteristics of categorical data, and Mann–Whitney U test was used for continuous variables. Univariable logistic regression analysis to compare the hospitalization and mortality rates and the strength of association was obtained by the odds ratio and confidence interval. Results: This study aimed to compare hospitalization and mortality rates between men with COVID-19 and prostate cancer and those who were COVID-19-positive with non-prostate genitourinary malignancy or any solid cancer, and with breast cancer patients. We also compared our studies to others that reported the incidence and severity of COVID-19 in prostate cancer patients. Our studies highlight that patients with prostate cancer had higher susceptibility to COVID-19-related pathogenesis, resulting in higher mortality and hospitalization rates. Hospitalization and mortality rates were higher in prostate cancer patients with COVID-19 when compared with COVID-19 patients with non-prostate genitourinary (GU) malignancies.

scholarly journals 350. Neurocysticercosis – Gender Differences in Clinical Presentations

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S244-S244
Author(s):  
Bharath Pendyala ◽  
Prasanth Lingamaneni ◽  
Patricia DeMarais ◽  
Lakshmi Warrior ◽  
Gregory Huhn
Keyword(s):  
Gender Differences ◽  
Categorical Variables ◽  
Public Health Issue ◽  
Diagnostic Code ◽  
Continuous Variables ◽  
Chi Square ◽  
Generalized Seizures ◽  
Icd 10 ◽  
Chi Square Test ◽  
Reported Data

Abstract Background Neurocysticercosis is a Neglected Tropical Disease and an important public health issue. Our goal was to collect and analyze data regarding clinically significant gender differences among our Neurocysticercosis patients. Methods A retrospective chart search with ICD 9/ ICD 10 diagnostic code for Neurocysticercosis and neuroimaging suggestive of Neurocysticercosis was performed for clinical encounters in the hospital or affiliated clinics between years 2013–2018. After a careful chart review, patients who were clinically diagnosed with Neurocysticercosis were included in the study. T-test was used to compare means of continuous variables and chi-square test to compare proportions of categorical variables. Results Among 90 total patients included, male (49.4%) and female (50.6%) distribution were nearly identical. The mean age in females was found to be higher than males (52.5 vs 42.0, P &lt; 0.0001). Almost an equal number of males and females presented with either seizures (63.6% vs 57.8%, P= 0.85), headaches (25.0% vs 28.9%, p= 0.85), or other symptoms (11.4% vs 13.3%, p= 0.85). Males had more generalized seizures compared to females (60% vs 38%, P= 0.37), although this result was not statistically significant. Females were more likely to present with &gt; 1 lesion (82.2% vs 56.8%, P= 0.01). Males were more likely to have cystic lesions (64.7% vs 27.9%, P &lt; 0.001) compared to females who had more calcified lesions on presentation (65.1% vs 20.6%, P &lt; 0.001). Male patients were more likely to have contrast enhancement or edema surrounding the lesions (61.4% vs 33.3%, P= 0.01) and were more likely to require treatment with Albendazole/Praziquantel (75.8% vs 31.7%, P &lt; 0.001). Conclusion Although previously reported data is limited, there is a suggestion that there are gender differences in host immune response and that inflammation surrounding parenchymal lesions is more intense in females. This study suggests that men either present early in the disease phase or have different immune responses than women and require anti-parasitic therapy more frequently. More research in this aspect is needed. Disclosures All Authors: No reported disclosures

A Tale of Two Cities: What’s Driving the Firearm Mortality Difference in Two Large Urban Centers?

2021 ◽  
pp. 000313482094525
Author(s):  
Jessica K. Friedman ◽  
Elizabeth Mytty ◽  
Scott Ninokawa ◽  
Tara Reza ◽  
Elinore Kaufman ◽  
...  
Keyword(s):  
Injury Severity ◽  
Univariate Analysis ◽  
Case Fatality ◽  
Bivariate Analysis ◽  
Continuous Variables ◽  
Urban Centers ◽  
Chi Square ◽  
Police Data ◽  
Lower Blood ◽  
Mortality Difference

Introduction Per police data, the case fatality rate (CFR) of firearm assault in New Orleans (NO) over the last several years ranged between 27% and 35%, compared with 18%-22% in Philadelphia. The reasons for this disparity are unknown, and potentially reflect important system differences with broader implications for the reduction of firearm mortality. Methods A retrospective analysis of police and city-specific trauma databases between 2012 and 2017 was performed. Victims of firearm assaults within city limits were included. Univariate analysis was performed using chi-square for categorical and t-test for continuous variables. Bivariate analysis was conducted using logistic regression. Results Per police data, the CFR of firearm assault was 31% in NO and 20% in Philadelphia. However, per trauma registry data, the CFR of firearm assault was 14% in NO and 25% in Philadelphia. Patients in Philadelphia were older, had higher injury severity score, and lower blood pressure. Patients in NO had higher rates of head injury. 51% of patients in Philadelphia arrived via police compared to <1% in NO. There was no mortality difference between police and emergency medical service (EMS) transport. Longer EMS prehospital times were associated with increased mortality in NO but not Philadelphia. A much larger percentage of patients died on-scene in NO than Philadelphia. Conclusions Our findings suggest that the major driver of increased mortality following firearm assault in NO compared with Philadelphia is death prior to the arrival of first responders. Interventions that shorten prehospital time will likely have the greatest impact on mortality in NO. This should include the consideration of police transport.

scholarly journals HPV genotyping and risk factors for anal high-risk HPV infection in men who have sex with men from Toronto, Canada

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yoojin Choi ◽  
Mona Loutfy ◽  
Robert S. Remis ◽  
Juan Liu ◽  
Anuradha Rebbapragada ◽  
...  
Keyword(s):  
Risk Factors ◽  
High Risk ◽  
Hpv Vaccine ◽  
Hpv Infection ◽  
Categorical Variables ◽  
Genotype Distribution ◽  
Continuous Variables ◽  
Chi Square ◽  
Hpv Genotypes ◽  
Sex With Men

AbstractMen who have sex with men (MSM) are disproportionately affected by anal cancer, predominantly caused by high-risk (HR) human papillomavirus (HPV) infection. Currently, the nonavalent HPV vaccine provides coverage against nine HPV genotypes, including seven HR-HPV genotypes. Here, we characterize anal HR-HPV genotype distribution and associated risk factors in MSM from Toronto, Canada recruited between September 2010 and June 2012. Wilcoxon–Mann–Whitney test was used for continuous variables, Chi-square test was performed for categorical variables, and a multivariable model using logistic regression was created to assess for correlates of anal HR-HPV infection. A total of 442 MSM were recruited, with a median age of 45 (IQR 38–50) and an overall HPV prevalence of 82%. The prevalence of any HR-HPV infection was 65.3% and 50.7% in the HIV-positive and HIV-negative MSM, respectively. No participant tested positive for all genotypes covered by the nonavalent vaccine. HIV status (aOR 1.806; 95% CI 1.159–2.816), smoking (aOR 2.176; 95% CI 1.285–3.685) and the number of lifetime sexual partners (aOR 2.466; 95% CI 1.092–5.567) were independent risk factors for anal HR-HPV infection. Our findings will be useful to inform HPV vaccine rollout and HPV prevention strategies in Canadian MSM.

scholarly journals Non-Prescription Antibiotic Use For People Aged 15 Years Or Older For Cough In China: A Community-Based Survey

2021 ◽  
Author(s):  
Yan Luo ◽  
Xuewen Tang ◽  
Lingling Ding ◽  
Zhujun Shao ◽  
Jianxing Yu ◽  
...  
Keyword(s):  
Antimicrobial Resistance ◽  
Univariate Analysis ◽  
Antibiotic Use ◽  
Categorical Variables ◽  
Continuous Variables ◽  
Chi Square ◽  
Main Driver ◽  
Antibiotics Use ◽  
Chi Square Test ◽  
Use Behavior

Abstract Background Non-prescription antibiotic use at community is a main driver of antimicrobial resistance. Cough is a common condition and prevalent in all communities, including China. This study aims to investigate the non-prescription antibiotic use for cough in China and explore to which extent antibiotic use knowledge was correctly instructed in communities.Methods A probability-proportionate-to-size (PPS) sampling method was adopted to survey from all 14 communities in Yiwu city, China. All participants were investigated by face-to-face interview on Portable Android Devices (PADs). The continuous variables were presented by mean and standard deviation (SD) or medium and inter-quartile range (IQR). The categorical variables were presented using percentage or constituent ratio. Chi-square test for univariate analysis and logistic regression for multivariate analysis were conducted to assess the odds ratios (ORs) and 95% confidence intervals (CIs), respectively.Results A total of 3034 respondents across the 14 communities and the 50 natural villages/streets completed all key items of the questionnaire. Of 2400 (79.10%) respondents stated that they experienced cough in the past 12 months with the medium age of 36.5 (IQR: 26-49) and 12.21% (293/2400) respondents had the non-prescription antibiotic use behavior. Among those 293 respondents, the proportion of non-prescription antibiotic use for cough peaked at around 16% among people aged 30-39 years old. The major sources of antibiotics were pharmacy (77.70%) and/or family storage (43.92%). As for antibiotic knowledge in 3034 participants, 61.8% participants had minimal knowledge on broad-spectrum antibiotic and 53.76% were not familiar about the effects of joint use.Conclusions Non-prescription antibiotics use for cough is prevalent in the community, especially among people in their thirties. Strengthened drug purchase regulation and well-trained professional pharmacists would be promising alternatives to ameliorate AMR. Moreover, penetrating antibiotics knowledge to common citizens and is an urgent task to alleviate antimicrobial resistance. Therefore, proactive policies and regulations should be made to improve current situations.

scholarly journals Urinary manifestations in African American and Caucasian inflammatory bowel disease patients: a retrospective cohort study

BMC Urology ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Jake Herbert ◽  
Emily Teeter ◽  
Landen Shane Burstiner ◽  
Ralfi Doka ◽  
Amor Royer ◽  
...  
Keyword(s):  
African American ◽  
Cohort Study ◽  
African Americans ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Chi Square ◽  
Bowel Diseases ◽  
Tertiary Healthcare ◽  
Inflammatory Bowel ◽  
Tract Infections

Abstract Background Inflammatory bowel diseases (IBD), like ulcerative colitis (UC) and Crohn’s disease (CD), are associated with urinary extra-intestinal manifestations, like urolithiasis and uncomplicated urinary tract infections (UTIs). The literature reviewed for this study identifies an increased association of CD and urolithiasis against the general population as well as UC. Furthermore, the rates in which urinary comorbidities manifest have not been well characterized in cross-race analyses. The purpose of this study is to establish the prevalence of common urinary extra-intestinal manifestations in CD and UC and to further determine at what rate these affect the African American and Caucasian populations. Methodology This is a retrospective cohort study using de-identified data collected from a research data base that included 6 integrated facilities associated with one tertiary healthcare center from 2012 to 2019. The electronic chart records for 3104 Caucasian and African American IBD patients were reviewed for frequency of urolithiasis and uncomplicated UTI via diagnosed ICD-10 codes. Comparison between data groups was made using multivariate regressions, t-tests, and chi square tests. Results Our study included 3104 patients of which 59% were female, 38% were African American, and 43% were diagnosed with UC. Similar proportions of UC and CD diagnosed patients developed urolithiasis (6.0% vs 6.7%, p = 0.46), as well as uncomplicated UTIs (15.6% vs. 14.9%, p = 0.56). Similar proportions of African American and Caucasian patients developed urolithiasis (5.4% vs 7.0%, p = 0.09), but a higher proportion of African Americans developed uncomplicated UTIs (19.4% vs 12.6%, p ≤ 0.001). Conclusion We found similar rates of urolithiasis formation in both UC and CD in this study. Furthermore, these rates were not significantly different between African American and Caucasian IBD populations. This suggests that UC patients have an elevated risk of urolithiasis formation as those patients with CD. Additionally, African Americans with IBD have a higher frequency of uncomplicated UTI as compared to their Caucasian counterparts.

scholarly journals Evaluation of the Risk of Clinical Deterioration among Inpatients with COVID-19

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Víctor O. Costa ◽  
Eveline M. Nicolini ◽  
Bruna M. A. da Costa ◽  
Fabrício M. Teixeira ◽  
Júlia P. Ferreira ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Lung Parenchyma ◽  
Clinical Deterioration ◽  
Categorical Variables ◽  
Continuous Variables ◽  
Chi Square ◽  
Exact Test ◽  
Laboratory Confirmation ◽  
Chi Square Test ◽  
Imaging Markers

This study aims to assess the risk of severe forms of COVID-19, based on clinical, laboratory, and imaging markers in patients initially admitted to the ward. This is a retrospective observational study, with data from electronic medical records of inpatients, with laboratory confirmation of COVID-19, between March and September 2020, in a hospital from Juiz de Fora-MG, Brazil. Participants (n = 74) were separated into two groups by clinical evolution: those who remained in the ward and those who progressed to the ICU. Mann–Whitney U test was taken for continuous variables and the chi-square test or Fisher’s exact test for categorical variables. Comparing the proposed groups, lower values of lymphocytes ( p  = <0.001) and increases in serum creatinine ( p  = 0.009), LDH ( p  = 0.057), troponin ( p  = 0.018), IL-6 ( p  = 0.053), complement C4 ( p  = 0.040), and CRP ( p  = 0.053) showed significant differences or statistical tendency for clinical deterioration. The average age of the groups was 47.9 ± 16.5 and 66.5 ± 7.3 years ( p  = 0.001). Hypertension ( p  = 0.064), heart disease ( p  = 0.048), and COPD ( p  = 0.039) were more linked to ICU admission, as well as the presence of tachypnea on admission ( p  = 0.051). Ground-glass involvement >25% of the lung parenchyma or pleural effusion on chest CT showed association with evolution to ICU ( p  = 0.027), as well as bilateral opacifications ( p  = 0.030) when compared to unilateral ones. Laboratory, clinical, and imaging markers may have significant relation with worse outcomes and the need for intensive treatment, being helpful as predictive factors.

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