Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied. To determine genetic modifiers and features of cardiac disease in NMD patients, we have reviewed electronic medical records of 651 patients referred to the Muscular Dystrophy Association Care Center at the University of Cincinnati and characterized the clinical phenotype of 14 patients correlating with their next-generation sequencing data. The data were retrieved from the electronic medical records of the 14 patients included in the current study and comprised neurologic and cardiac phenotype and genetic reports which included comparative genomic hybridization array and NGS. Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, COL6A3, SGCA, SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients. Our observations suggest that features of cardiac disease and modifying gene mutations in patients with NMD require further investigation to better characterize genotype–phenotype relationships.

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Development of prediction model for trauma assessment using electronic medical records

10.1101/2020.08.18.20176180 ◽

2020 ◽

Author(s):

Kentaro Ogura ◽

Tadahiro Goto ◽

Toru Shirakawa ◽

Tomohiro Sonoo ◽

Hidehiko Nakano ◽

...

Keyword(s):

Prediction Model ◽

Electronic Medical Records ◽

Medical Records ◽

Injury Severity ◽

Care Center ◽

Predictive Performance ◽

Mortality Prediction ◽

Hospital Death ◽

Trauma Patients ◽

Clinical Diagnoses

Abbreviated Injury Score (AIS) and Injury Severity Score (ISS) scores are used to measure the severity of trauma patients in the emergency department, but they have several problems such as a calculation complexity. In this study, we developed a mortality prediction model of trauma patients using the data from electronic medical records and compared it with a model using AIS/ISS scores. This is a prognostic study using the data of patients who were admitted to Hitachi General Hospital Emergency and Critical Care Center from April 2018 to March 2019. The features were age, sex, vital signs, and clinical diagnoses, and the outcome was in-hospital death. Of 337 eligible patients, 11 died during the hospitalization. The predictive performance of our model was comparable to that of the AIS/ISS scores model (AUC 0.912 vs 0.961). Clinical diagnoses were important in predicting the mortality rate. Our study suggests that a trauma severity index calculated by the predicting model using information from electronic medical records might replace AIS/ISS score.

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Biopsy forceps disruption paired with bougie dilation of esophageal strictures lengthens time to repeat intervention

Diseases of the Esophagus ◽

10.1093/dote/doaa113 ◽

2020 ◽

Author(s):

Tricia Hengehold ◽

Benjamin D Rogers ◽

Farhan Quader ◽

C Prakash Gyawali

Keyword(s):

Electronic Medical Records ◽

Medical Records ◽

Care Center ◽

Tertiary Care ◽

Balloon Dilation ◽

Biopsy Forceps ◽

Kaplan Meier ◽

Esophageal Strictures ◽

Foregut Surgery

Summary Esophageal strictures commonly cause dysphagia and require treatment with endoscopic dilation using balloons or bougies. We aimed to determine whether biopsy forceps disruption of strictures at time of dilation increases time to repeat intervention or duration of intervention-free follow-up. We performed a retrospective analysis of 289 adults (age 61.0 ± 0.8 years, 66.4% female) who underwent dilation of an esophageal stricture at our tertiary care center between 2014 and 2016. Exclusions consisted of endoscopic intervention within the preceding 6 months, prior foregut neoplasia, achalasia, radiofrequency ablation, endoscopic mucosal resection, endoscopic submucosal dissection, or foregut surgery. Demographics, clinical presentation, dilation technique, and follow-up were abstracted from electronic medical records. We compared time to repeat dilation and duration of intervention-free follow-up between treatment subgroups. Balloon dilation was performed more often than bougie dilation (76.8 vs. 17.6%); biopsy forceps disruption was performed in 23.2%. Over a median follow-up of 52.9 months, 135 patients (46.7%) underwent repeat dilation. Age, body mass index, gender, and use of antisecretory medications did not influence need for repeat dilation (P = ns for each). Bougie dilation with biopsy forceps disruption prolonged time to repeat dilation in all patients (P ≤ 0.02), particularly in those with gastroesophageal reflux disease (P ≤ 0.03), compared with bougie dilation alone and balloon dilation with or without disruption. On Kaplan–Meier analysis, bougie dilation with biopsy forceps resulted in longer intervention-free follow-up compared with dilation alone (P = 0.03). We conclude that stricture disruption with biopsy forceps increases time to repeat intervention with bougie but not balloon dilation.

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Copy number variation analysis increases the diagnostic yield in muscle diseases

Neurology Genetics ◽

10.1212/nxg.0000000000000204 ◽

2017 ◽

Vol 3 (6) ◽

pp. e204 ◽

Cited By ~ 6

Author(s):

Salla Välipakka ◽

Marco Savarese ◽

Mridul Johari ◽

Lydia Sagath ◽

Meharji Arumilli ◽

...

Keyword(s):

Muscular Dystrophy ◽

Copy Number ◽

Diagnostic Yield ◽

Dystrophin Gene ◽

Final Diagnosis ◽

Next Generation Sequencing Data ◽

Comparative Genomic ◽

Sequencing Data ◽

Single Nucleotide Variants ◽

Muscle Diseases

Objective:Copy number variants (CNVs) were analyzed from next-generation sequencing data, with the aim of improving diagnostic yield in skeletal muscle disorder cases.Methods:Four publicly available bioinformatic analytic tools were used to analyze CNVs from sequencing data from patients with muscle diseases. The patients were previously analyzed with a targeted gene panel for single nucleotide variants and small insertions and deletions, without achieving final diagnosis. Variants detected by multiple CNV analysis tools were verified with either array comparative genomic hybridization or PCR. The clinical significance of the verified CNVs was interpreted, considering previously identified variants, segregation studies, and clinical information of the patient cases.Results:Combining analysis of all different mutation types enabled integration of results and identified the final cause of the disease in 9 myopathy cases. Complex effects like compound heterozygosity of different mutation types and compound disease arising from variants of different genes were unraveled. We identified the first large intragenic deletion of the titin (TTN) gene implicated in the pathogenesis of a severe form of myopathy. Our work also revealed a “double-trouble” effect in a patient carrying a single heterozygous insertion/deletion mutation in the TTN gene and a Becker muscular dystrophy causing deletion in the dystrophin gene.Conclusions:Causative CNVs were identified proving that analysis of CNVs is essential for increasing the diagnostic yield in muscle diseases. Complex severe muscular dystrophy phenotypes can be the result of different mutation types but also of the compound effect of 2 different genetic diseases.

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Using Electronic Medical Records of Nursing Care to Characterize Constipation in Patients with Intracerebral Hemorrhage

Cerebrovascular Diseases ◽

10.1159/000515706 ◽

2021 ◽

pp. 1-8

Author(s):

Wei Chen ◽

Jieyi Zhao ◽

Xiangkui Li ◽

Xiaoyu Wang ◽

Jing Chen ◽

...

Keyword(s):

Quality Of Life ◽

Risk Factors ◽

Intracerebral Hemorrhage ◽

Hospital Mortality ◽

Electronic Medical Records ◽

Nursing Care ◽

Medical Records ◽

Care Center ◽

Tertiary Care

Introduction: Constipation is one of the common poststroke complications that directly affect the patients’ quality of life in patients with intracerebral hemorrhage (ICH), which has not been paid enough attention. Objective: This study investigates constipation’s clinical characteristics and its risk factors in ICH patients driven by the electronic medical records of nursing care. Methods: This retrospective chart review investigated patients with acute spontaneous ICH admitted at a tertiary care center from October 2010 to December 2018. Poststroke constipation was defined as a first stool passage occurring after 3 days postadmission and the use of enemas or laxatives after ICH. The associations between constipation present and potential factors were evaluated. Results: Of 1,748 patients, 408 (70.3% men, mean age 58 ± 14 years) patients with poststroke constipation were identified. After adjusting for potential confounding variables, the risk factors independently associated with poststroke constipation are admission Glasgow Coma Scale score (odds ratio [OR] 0.62, 95% confidence interval [CI] 0.44–0.88; p = 0.007), use of mechanical ventilation (OR 3.74, 95% CI 2.37–5.89, p < 0.001), enteral nutrition (OR 2.82, 95% CI 1.85–4.30, p < 0.001), hematoma evacuation (OR 2.10, 95% CI 1.40–3.16; p < 0.001), opioid analgesics (OR 1.86, 95% CI 1.32–2.62; p < 0.001), sedation (OR 1.83, 95% CI 1.20–2.77; p = 0.005), and vasopressors (OR 1.81, 95% CI 1.26–2.61; p = 0.001) in order. Similar associations were observed in the prespecified length of the stay subgroup. Patients with constipation were associated with a longer hospital stay length (2.24 days, 95% CI 1.43–3.05, p < 0.001) but not with in-hospital mortality (OR 1.05, 95% CI 0.58–1.90, p = 0.871). Conclusions: Our findings suggested that risk factors influence the absence of constipation after ICH with the synergy of different weights. The occurrence of constipation likely affects a longer length of stay, but not in-hospital mortality. Future prospective investigations are warranted to validate our findings and identify the optimal management of constipation that may improve the quality of life in patients with ICH.

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Formas utilizadas para tentativa de suicídio e características sociodemográficas de pacientes atendidos no serviço de emergência de um hospital de ensino

Scientia Medica ◽

10.15448/1980-6108.2016.4.24467 ◽

2016 ◽

Vol 26 (4) ◽

pp. 24467

Author(s):

Betina Brixner ◽

Caroline Lau Koch ◽

Marla Pedroso Marth ◽

Alice Pereira Freitas ◽

Cristiane Carla Dressler Garske ◽

...

Keyword(s):

Emergency Department ◽

Suicide Attempt ◽

Electronic Medical Records ◽

Medical Records ◽

Suicide Attempts ◽

Care Center ◽

Univariate Analysis ◽

Psychosocial Care ◽

Psychiatric Evaluation ◽

Suicidal Patients

Aims: To assess the methods used in suicide attempts and sociodemographic characteristics of suicidal patients treated at the emergency department of a teaching hospital.Methods: Cross-sectional retrospective study, with active search for electronic medical records of patients treated at the emergency department of a public teaching hospital in the countryside of Rio Grande do Sul, Brazil, from January to December 2015. All cases of suicide attempt were included, regardless of the suicide methods used. Successful suicide cases were not investigated. The statistical analyses included descriptive statistics, univariate analysis, and Pearson’s chi-square test.Results: A total of 233 patients treated at the emergency department were referred for psychiatric evaluation, and 122 of them had attempted suicide. The mean age of the suicidal patients was 36.8±14.3 years, (minimum of 14 years and maximum of 88 years) and 74 (60.6%) of them were female. The most common suicide attempt methods were ingestion of medications (72 cases, 59%) and of pesticide (14 cases, 11.5%). Of all patients, 119 (97.5%) lived in Santa Cruz do Sul, predominantly in the urban area (103 patients, 84.4%). Of the 50 (41.0%) referrals, 32 (64.0%) were sent to the Center for Psychosocial Care, 7 (14%) to the Center for Children’s and Adolescents’ Psychosocial Care, 6 (12%) were admitted to a mental health unit, and 5 (10%) were sent to Psychosocial Care Center for Alcohol and Drug Abuse. Sixty-six (54.1%) patients had no electronic medical records of their outcome after discharge and 6 (4.9%) were lost to follow-up.Conclusions: Most of the treated suicidal patients were young adult females. The most common method of suicide attempt was the ingestion of medications, followed by the ingestion of pesticides.

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