Proactive Variant Effect Mapping to Accelerate Genetic Diagnosis for Pediatric Cardiac Arrest

While genetic testing is becoming standard of care for patients with potentially inherited cardiovascular disease, the prevalence of uncertain results severely limits its utility. One promising approach is to generate variant effect maps that report the function of all possible variants in a gene prospectively. The proactive clinical application of these maps is nascent, and requires careful integration with current American College of Medical Genetics guidelines for variant interpretation. Here, we describe three pediatric cases of cardiac arrest or sudden cardiac death with variants of uncertain significance in calmodulin genes. We demonstrate the prospective clinical utility of a calmodulin variant effect map to inform variant interpretation, and therefore diagnosis and family care, in each case. This study was approved by the Stanford University and Vanderbilt University Medical Center IRBs. Consent was waived based on low risk of de-identified retrospective data collection per the IRB.

Prognostic Role of the Removed Vaginal Cuff and Its Correlation with L1CAM in Low-Risk Endometrial Adenocarcinoma

Objective: The aim of our study was to investigate the role of the excised vaginal cuff length as a prognostic factor in terms of DFS and recurrence rate/site, in low-risk endometrial cancer (EC) patients. Moreover, we correlated the recurrence with the expression of L1CAM. Material and Methods: From March 2001 to November 2016, a retrospective data collection was conducted of women undergoing surgical treatment for low-risk EC according to ESMO-ESGO-ESTRO consensus guidelines. Patients were divided into three groups according to their vaginal cuff length: V0 without vaginal cuff, V1 with a vaginal cuff shorter than 1.5 cm and V2 with a vaginal cuff longer than or equal to 1.5 cm. Results: 344 patients were included in the study: 100 in the V0 group, 179 in the V1 group and 65 in the V2 group. The total recurrence rate was 6.1%: the number of patients with recurrence was 8 (8%), 10 (5.6%) and 3 (4.6%), in the V0, V1 and V2 group, respectively. No statistically significant difference was found in the recurrence rate among the three groups. Although the DFS was higher in the V2 group, the result was not significant. L1CAM was positive in 71.4% of recurrences and in 82% of the distant recurrences. Conclusions: The rate of recurrence in patients with EC at low risk of recurrence does not decrease as the length of the vaginal cuff removed increases. Furthermore, the size of the removed vaginal cuff does not affect either the site of recurrence or the likelihood of survival.

Administration and Toxicity Profile of the Capizzi Interim Maintenance—Retrospective Study from a Tertiary Care Cancer Centre

Introduction The Capizzi-style methotrexate (MTX) is an integral part of acute lymphoblastic leukemia (ALL) treatment. The escalating dose of MTX originally used in the United Kingdom and Children’s Oncology Group protocols along with L-asparaginase has been modified in the Indian Childhood Collaborative Leukemia (ICiCLe) group protocol where L-asparaginase has been omitted. The data regarding the incidence of toxicities and ease of administration on the Capizzi-style interim maintenance is not robust. Objectives We have compiled our experience with administration and toxicity profile in children with intermediate-risk ALL. Materials and Methods A retrospective data collection of all children diagnosed with intermediate-risk ALL as per the ICiCLe risk stratification in the year 2019 was included in the analysis. Each cycle of MTX was started after ensuring an absolute neutrophil count of >750/mm3 and transaminases <2 upper limit of normal. As a unit protocol, pre- and post-MTX hydration was administered in all our children. No urine pH or midcycle biochemical parameter monitoring was done. Statistical analysis was done using Microsoft Excel and SPSS version 24 IBM Corp. in Armonk, New York, United States. Results Forty-six children were included in the study. The median age of children in our study was 6 years (range: 1 year 2 months–12 years). Undernutrition was associated with a significant increase in toxicity (p = 0.02). Fifty-two percent of children had evidence of toxicity, elevated transaminases being the most common. There were recurring symptoms resulting in 53 episodes of toxicities overall. Incidence of toxicity was more in the early cycles (<3). Conclusion The pre- and post-MTX hydration is an effective way to reduce toxicities with the Capizzi-style MTX and this course can be administered with ease on outpatient basis with minimal need for monitoring or admission.

Diffuse sclerosing variant of papillary thyroid carcinoma: outcomes of 33 cases

Introduction: Diffuse sclerosing variant of PTC (DSV-PTC) is an uncommon subtype of thyroid cancer. Although an aggressive behavior is often recognized, prognostic significance is still under debate. Objectives: To describe the clinicopathological features and outcomes of a series of DSV-PTC patients. Methods: Retrospective data collection regarding 33 patients diagnosed with DSV-PTC followed at the Endocrine Department of the Portuguese Institute of Oncology in Lisbon between 1981 and 2020. Results: 26 patients (78.8%) were females with a mean age at presentation of 29.4±11.7 years-old. Mean time of follow-up was 19.5±10.6 years (range 0.5 to 39). Histologically, bilateral tumors were present in 72.7% patients (n=24), thyroid capsular invasion was documented in 57.6% (n=19), 45.4% (n=15) had extrathyroidal extension (ETE), and 42.4% (n=14) had lymphovascular invasion. Most patients were staged pT3 (42.4%, n=14) and pN1 (81.8%, n=27). Median lymph nodes resected were 16. None of the patients showed distant metastases at presentation. All patients were treated at least once with 131I. During follow-up, 4 patients (14.8%), with persistent neck disease, were diagnosed with distant metastases, all of them in the lung. Two patients (1.8%) presented recurrent disease in the neck after being considered with no evidence of disease. At the last appointment, 18 patients (54.5%) were in remission, 4 (12.1%) had biochemical evidence of disease, 6 had structural disease, and for 5 patients disease status was considered as undetermined. There was no disease related mortality. Discussion/Conclusion: Our study confirms that DSV-PTC is diagnosed more often in young patients and exhibits a local extensive disease at presentation. On the other hand, even in the presence of distant metastases, no patient died during follow-up.

Advanced Parkinson’s Disease Treatment Simplification and Long-Term Outcomes with Levodopa Carbidopa Intestinal Gel: COSMOS Romanian Subanalysis

The aim of the COmedication Study assessing Mono- and cOmbination therapy with levodopa-carbidopa inteStinal gel (COSMOS) was to assess the use of levodopa/carbidopa intestinal gel (LCIG) as monotherapy in patients with advanced Parkinson’s disease (APD) in routine clinical practice. COSMOS was an international observational study with one cross-sectional visit and retrospective data collection. In Romania, 95 adult patients with APD on LCIG treatment for at least 12 months were enrolled and stratified according to their LCIG therapy after 12 months: monotherapy (without any add-on PD medication), monotherapy with night PD medication and LCIG + add-on medication. Compared to the moment of LCIG initiation, the percentage of patients on monotherapy increased at three months after LCIG initiation and remained constant up to 12 months, when 30.5% of the patients were on LCIG monotherapy and 11.6% were on monotherapy with night medication. “Off” time and “On” time with dyskinesia decreased from LCIG initiation to patient visit in all groups. LCIG monotherapy with or without night medication may provide a simplified treatment option for selected APD patients, with long-term efficacy similar to that of LCIG plus add-on medication.

EVALUASI PENGGUNAAN OBAT GASTRITIS PADA PASIEN RAWAT INAP DI RS GRANDMED LUBUK PAKAM TAHUN 2020

Gastritis is a disease caused by the bacterium Helicobacter phylory, this first gastritis drug, namely Antacids, Omeprazole, and Ranitidine. The increasing number of Gastritis patients from 2019 to 2020 at Grandmed Lubuk Pakam Hospital is encouraging researchers to conduct this study. The purpose of this study was to determine the description of the use of Gastritis drugs and the rationality of the use of Gastritis medications in Gastritis patients at Grandmed Lubuk Pakam Hospital in 2019. This study was a descriptive (non-experimental) study with retrospective data collection taken from patient medical records. Gastritis at Grandmed Lubuk Pakam Hospital. Data were collected using a purposive sampling technique in accordance with the inclusion criteria and exclusion criteria using the Data Collection Sheet. The number of samples used in this study were 64 medical records of patients diagnosed with gastritis. Data analysis was performed using Univariat with the help of SPSS. Results of distribution of duration of treatment data for which most patients undergo treatment. And the number of Chronic Diseases suffered by Diarrhea patients is 20 patients (31.2%). All three have a significant relationship with patient care outcomes. While in the age range 31-60 years, 45 people (70.3%) affected by gastritis. and The results of evaluating the rationality of treatment for gastritis are the right indications (96.9%), (62 patients), 100% correct patients (64 patients), the right medication by (96.9%) (62 patients), and the correct dosage 100% correct (64).

PATTERN OF ANTIBIOTICS USE IN ADULT PATIENTS WITH URINARY TRACT INFECTION (UTI)

Introduction: Urinary tract infection (UTI) is an infectious disease caused by the growth and proliferation of bacteria in the urinary tract, including infections in the bladder to the renal parenchyma with a certain number of bacteria in the urine. The use of antibiotics is therapy that commonly used to treat infectious diseases caused by bacteria. Irrational use of antibiotics can lead to bacterial resistance and toxicity. Objective: To determine the rationality of using antibiotics in adult patients with a urinary tract infection (UTI) in the X Hospital Yogyakarta from January-December 2017.Methods: This study is a non-experimental study with a descriptive observational study design and retrospective data collection. The sample of this study was inpatients with a diagnosis of urinary tract infection (UTI) and was recorded in the Medical Record X Hospital Yogyakarta for the period January-December 2017 which was included in the inclusion criteria. Results: Medical records that were included in the inclusion criteria were 61. The single most widely used antibiotic was ceftriaxone in 25 cases (44.64%) and the most widely used combination antibiotic was ceftazidime + levofloxacin in 2 cases (40%). The use of antibiotics with the right indication was 61 patients (100%), the right type was 61 patients (100%), the correct duration was 54 patients (88.52%), the right dose was 61 patients (100%), the right interval was 60 patients (98.36%) and the right route of administration was 61 patients (100%).

EP.FRI.537 Post-operative antibiotics for cutaneous abscess after incision and drainage: Variations in Clinical Practice or lack of guidelines

Aims Acute cutaneous abscess is a common surgical condition which mostly require incision and drainage. Despite this, there is no standardised national or international guidance on the post-operative antibiotics prescription. Traditionally, antibiotics are not indicated unless complications and/or risk factors such as immunocompromisation, diabetes or cellulitis exist. We aimed to study the local practice of the post-operative antibiotics prescription for cutaneous abscesses in a University teaching hospital in London. Methods A retrospective data collection of emergency general surgical admissions for a period of six months from July to December 2020 was carried out. All patients with superficial skin abscess were included in this analysis. Scrotal, breast and limb abscesses were excluded. Patients’ demographics, Co-morbidities, local and systemic complications were studied. Results A total of 149 patients presented during this period. Mean age was 40 (54% were male). Most common site of abscess was perianal (24%), followed by pilonidal, axilla, back, gluteal, neck, abdominal wall and groin. At total of 108 (72.5%) were managed surgically with incision and drainage, 70 (65%) got antibiotics and only 23 (33%) had indications for it (i.e. diabetic, immunocompromised, sepsis, cellulitis, MRSA carriage) = (χ2[1] =22.03, p&lt;.0001). Co-amoxiclav was the most common post-operative empirical antibiotic prescribed in 61% of the patients. Conclusions This study has identified significant variation in clinical practice regarding post-operative antibiotic usage in superficial abscesses. Further research is required in cooperation with microbiologists to develop standardised evidence-based treatment protocol for management of such common surgical condition.

EP.WE.409Stoma forming surgery – has lockdown changed our operative practice during COVID 19

Aims This study aimed to establish whether the initial lockdown resulted in a shift towards emergency surgery, changes in stoma formation and in rate of surgery with curative intent. Methods A retrospective data collection was performed. Patients were identified using a local database of all patients with stomas. Data was collected from 16/03/20 to 16/09/20. A comparison data set was taken (16/03/19 to 16/09/19). Data was collected on whether the case was performed as an emergency; the type of stoma formed and whether the operation was performed with curative intent. Results Seventeen patients were identified in the 2020 cohort (age: 51-84, mean age: 67.6, M:F 10:7). Fourteen cases (82.4%) were performed as emergencies, three electively (17.6%). Six (35.3%) had end colostomies, three (17.6%) had loop colostomies, one (5.9%) had a caecostomy, four (23.5%) had an end ileostomy and three (17.6%) had a loop ileostomy. Ten operations were for patients with cancer, three (30%) were performed with curative intent. 38 patients were identified in the 2019 cohort (age: 28-85, mean age: 63.0, M:F 17:21). 23 (60.5%) were emergencies, fifteen (39.5%) were performed electively. Nine (23.7%) had end colostomies, eight (21.1%) had loop colostomies, three (7.9%) had caecostomies, ten (26.3%) had end ileostomies and nine (23.7%) had loop ileostomies. There were nineteen operations for cancer, eight (42.1%) were with curative intent. Conclusions Cessation of elective activity caused a shift towards emergency operating, with an associated shift towards surgery with non-curative intent. The distribution of stomas formed has not changed.