The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1–BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1–BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.

Correlations Between Epidemiological and Clinical Characteristics, Laboratory Tests and CT Scan Reports in the Diagnosis of COVID-19: A Diagnostic Accuracy Study

Although the relationship between laboratory parameters, radiology, CT scan scan and clinical outcomes has not been well evaluated so far, COVID-19 is still a good challenge for this purpose. These tests can be used to diagnose, monitor, and treat COVID-19. The study was conducted from February 20 to August 31, 2020, following the referral of 340 patients with coronavirus symptoms at Chamran Hospital, Shiraz University of Medical Sciences, Shiraz, Iran. Clinical information of each patient is obtained based on patient information forms when visiting the hospital. Comparison of the relationship between lung involvement in CT scan and laboratory indicators, including biochemical and hematological factors is a suitable and reliable comparison to identify people with Covid 19. Based on the results of this study, it was found that ALT, AST, CRP, NEU, LDH, and Urea could be a suitable diagnostic method in positive RT-PCR for COVID-19. In this study, we tried to investigate the relationship between clinical and laboratory findings with CT-based quantitative score of pulmonary involvement in COVID-19 pneumonia and as a suitable and reliable method in continuing COVID-19 pandemic and diagnosis of COVID-19 infection.

474. Unique Treatment Challenges with Multisystem Inflammatory Syndrome in Children (MIS-C) compared to Kawasaki Disease Shock Syndrome

Background Kawasaki disease (KD) and Multisystem Inflammatory Syndrome in Children (MIS-C) associated with Coronavirus Disease 2019 present similarly with mucocutaneous symptoms and fever. Both syndromes can progress to shock. Successful treatments for MIS-C are largely based on proven KD management. As more patients with MIS-C are treated, protocols are adjusted. Infectious Diseases (ID) specialists are often early consultants in these cases. Understanding differences in how body systems are affected in MIS-C versus KD is essential for management. Figure 1. Cardiac changes among patients with Kawasaki Disease shock syndrome (KDSS) and Muti-system Inflammatory Syndrome (MIS-C) Methods This is a single hospital comparison of 25 cases of MIS-C with mucocutaneous presentation and symptoms of shock and 25 consecutive cases of KD Shock Syndrome (KDSS). Cases were compared for demographics, symptoms, cardiac abnormalities, medical treatments, and cardiac recovery. Results Patients with MIS-C develop symptoms of shock including sustained hypotension and tachycardia at 3 times the rate of patients with KD (45% vs 13%; p< 0.001). On echocardiogram, left ventricular myocardial dysfunction, assessed by ejection fraction, is more commonly noted in cases of MIS-C than KDSS (fig 1). About half of patients with MIS-C show left ventricular myocardial dysfunction initially with normalization by 6 months post-presentation in the majority (96%). Conclusion Cardiac changes and shock events related to KD and MIS-C are thought to be caused by differing inflammatory mediators. By comparing these two syndromes, we can determine ways to manage each optimally. MIS-C often results in left ventricular myocardial dysfunction, which is rarer in KD cases. Fluid resuscitation with multiple fluid boluses followed by inotropes to treat hypotension in cases of in MIS-C puts increased strain on the already weakened myocardium. Early intravenous immunoglobulin (IVIG) administration, even in the presence of mild hypotension, can simultaneously provide the patient with additional fluid and decrease the underlying inflammatory process. This prompt treatment might reduce the need for pressor support while protecting the myocardium from further damage. As early consultants in MIS-C, ID providers should be educated regarding the unique cardiac challenges of MIS-C and avoid delay in IVIG treatment and cardiologist and intensivist consultation. Disclosures All Authors: No reported disclosures

On the correlation between outcome indicators and the structure and process indicators used to proxy them in public health care reporting

Hospital quality indicators provide valuable insights for quality improvement, empower patients to choose providers, and have become a cornerstone of value-based payment. As outcome indicators are cumbersome and expensive to measure, many health systems have relied on proxy indicators, such as structure and process indicators. In this paper, we assess the extent to which publicly reported structure and process indicators are correlated with outcome indicators, to determine if these provide useful signals to inform the public about the outcomes. Quality indicators for three conditions (breast and colorectal cancer, and hip replacement surgery) for Dutch hospitals (2011–2018) were collected. Structure and process indicators were compared to condition-specific outcome indicators and in-hospital mortality ratios in a between-hospital comparison (cross-sectional and between-effects models) and in within-hospital comparison (fixed-effects models). Systematic association could not be observed for any of the models. Both positive and negative signs were observed where negative associations were to be expected. Despite sufficient statistical power, the share of significant correlations was small [mean share: 13.2% (cross-sectional); 26.3% (between-effects); 13.2% (fixed-effects)]. These findings persisted in stratified analyses by type of hospital and in models using a multivariate approach. We conclude that, in the context of compulsory public reporting, structure and process indicators are not correlated with outcome indicators, neither in between-hospital comparisons nor in within-hospital comparisons. While structure and process indicators remain valuable for internal quality improvement, they are unsuitable as signals for informing the public about hospital differences in health outcomes.

Predictors of Neurological Deterioration during Admission for Patients with Cerebellar Strokes

Objective: Despite less common, cerebellar stroke frequently results in unfavorable outcomes, especially after deterioration. Therefore, this study was aimedto identify the significant predictors of neurological deterioration during admission (NDDA) in ischemic and hemorrhagic cerebellar strokes.Material and Methods: We retrospectively reviewed all medical records of patients diagnosed with ischemic and hemorrhagic cerebellar strokes; during 2002-2018, in Songklanagarind Hospital. Comparison of patients’ demographic data, initial clinical presentations, neuroradiological results, timing and signs of NDDA, and outcomes between cerebellar strokes were descriptively analyzed. Logistic regression model was applied for determining the significant predictors of NDDA from initial clinical presentations.Results: From this, 74 of 100 patients were eligible. They comprised of 42 (57.0%) cerebellar ischemia (CI) and 32 (43.0%) cerebellar hemorrhage (CH). Elevated diastolic blood pressure (DBP) and neuro-radiological evidences suggesting increased posterior cranial fossa pressure were significantly prevalent in neurological deterioration patients. NDDA was found in 31 patients (42.0%), without significant difference between CI and CH. 42 (56.8%), patients had poor neurological outcomes. The independent predictors for NDDA were DBP 120 mmHg (adjusted odds ratio [adj. OR] 15.39, 95% CI 1.58- 149.59; p-value=0.004), time from onset to arrival (adj. OR 0.98, 95% CI 0.97-1.00; p-value=0.044), and hemispheric cerebellar signs at presentation (adj. OR 0.22, 95% CI 0.06-0.75; p-value=0.012).Conclusion: CH was not an independent predictor of NDDA in overall cerebellar strokes. Only high DBP predicted NDDA; whereas, time from onset to arrival, and hemispheric cerebellar signs at presentation showed protective impact.

Comparative evaluation of urodynamic profile in cases of cystocele alone or associated with uterovaginal prolapse before and after surgery

Background: Pelvic organ prolapse is a bulge or protrusion of pelvic organs and their associated vaginal segments into or through the vagina. There may be structural and functional changes in the bladder and urethra post-operatively.Methods: It was a prospective type of cohort study. The study was conducted on 30 patients with cystocele with or without uterovaginal prolapse undergoing surgery for same under Department of Obstetrics and Gynecology of Dr. Ram Manohar Lohia Hospital. Comparison of various pre-operative and post-operative urodynamic parameters were done using appropriate statistical tests.Results: Post-operatively, statistically significant increase was observed in the bladder volumes at which patients had first and strong desire to void as well as in the maximum cystometric capacity, increase in mean compliance, increase in mean average flow rate, decrease in post-void residual volume. Though, no significant improvement was seen on peak flow rates on uroflowmetry, maximum filling detrussor pressure, mean peak flow rates, maximum voiding detrussor pressure, mean detrussor pressure at peak flow rate.Conclusions: A pre-operative urodynamic study may be helpful in planning the site-specific repair surgery. It will also help in predicting the post-operative outcome. Urge related symptoms may not be corrected by cystocele repair alone and may require additional treatment.

Antibiotic Resistance Results of Helicobacter pylori in a University Hospital: Comparison of the Hybridization Test and Real-Time Polymerase Chain Reaction

Aim. H. pylori is a bacterial pathogen in the human stomach which infects about 50% of the world population. Untreated infection can lead to various diseases leading to cancer. Some of the H. pylori strains are asymptomatic, but some of them cause more severe diseases. Standard treatment protocol used for the treatment of H. pylori infection is triple therapy, which includes omeprazole as a proton pump inhibitor (PPI) and two antibiotics usually consist of amoxicillin and clarithromycin or metronidazole. In the recent years, because of the increase in the rate of antibiotic resistance, the eradication rate has decreased. Materials and Methods. We evaluated 140 patients who applied to a university hospital gastroenterology department and underwent biopsy during endoscopy. In these patients, we analysed floroquinolone and clarithromycin resistance using the GenoType® HelicoDR (Hain Life Science, Germany). We also used the real-time method for clarithromycin resistance. Results. We found the number and rate of floroquinolone resistance as 20 (25.6%) and clarithromycine resistance as 31 (39.7%). With the real-time PCR method, we detected clarithromycine resistance in 26 (33.3%) patients. These results were not statistically significant. Discussion and Conclusion. Our results show similarity to the other studies held in our country. There should be more studies for the policy of eradication through our country.