Revisiting the Newly Modified Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) and Reporting Newly Identified Genes.

Background: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia is an inherited cardiomyopathy, characterized by replacement of the RV muscle wall with fibrofatty tissue. The diagnosis is challenging, due to the absence of a unique presentation and a lack of specific reproducible diagnostic criteria. Materials and methods: Slides and additional clinical information including follow up from 16 cases were reviewed. Pediatric criteria of >30% of muscle replacement was used, instead of >40% as used in adults. Results: All 16 cases were confirmed by genetic testing and show ARVC/D. Applying the adult criteria, 7 cases would not have been categorized as ARVC/D. Conclusion: The modified pediatric criteria for ARVC/D should be used for pediatric patients. Better detection will aid in genetic counseling in order to identify those additional family members susceptible to sudden cardiac deaths so they can be followed optimally.

Cardiac Magnetic Resonance Imaging Macroscopic Fibro-Fatty Infiltration of the Myocardium in Pediatric Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.

Background: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited, progressive form of cardiomyopathy, which is characterized by fibrofatty replacement of the myocardium. While the gold standard for diagnosis remains pathologic evaluation of biopsy, advances in noninvasive imaging, including cardiac magnetic resonance imaging (CMRI), have led to improved clinical diagnosis.Case report: We report three additional cases of pediatric patients that have pathologically confirmed ARVC/D with CMRI images, demonstrating extensive macroscopic fatty infiltration of the right and left ventricular myocardium. The identification using CMRI allowed timely transplantation and patient survival.Conclusion: Our study is designed to highlight how fibrofatty changes are minimal using CMRI in the pediatric population and how this can be a valuable tool to provide an additional method of diagnosis.

A Study of Patient Concerns in the Modern Therapeutic Era of Inflammatory Bowel Disease.

BACKGROUND: Patient concerns and preferences are important in the management of inflammatory bowel disease (IBD: Crohn's disease [CD], ulcerative colitis). In the absence of contemporary data, we aimed to determine patient concerns and preferences and establish if there are demographic or disease-related differences. METHODS: We surveyed patients with IBD at Massachusetts General Hospital between July and September 2023. The Rating Form of Inflammatory Bowel Disease Patient Concerns (RFIPC) and a set of supplemental questions rated on a visual analog scale (0-100 mm) were administered to patients and compared by age, disease type, sex, and surgery status. Additionally, a survey administered to treating providers gathered insight into the difference between patient and provider perceptions of concerns. RESULTS: A total of 350 patients and 30 providers completed the survey. The mean age was 47 years; 50% were female, 49% had CD, and 80% were on advanced IBD therapy. Effects of medication (median = 54), energy level (median = 53), and having an ostomy bag (median = 52) were rated highest by patients. Older patients rated most disease complication and treatment-related concerns similar to younger adults; those aged 35-59 years had the greatest level of concern for most questions. Sex, disease activity, and prior surgical history also impacted patients' concerns. Providers perceived patients' worries as higher than those rated by patients themselves. CONCLUSIONS: A shared decision-making model targeting the achievement of disease remission and addressing concerns rated highly by patients is important to meet the goal of care for patients with IBD.

The highest rated concerns among patients with inflammatory bowel disease were needing an ostomy, energy level, and concern with medications. Older patients had a similar level of disease-related concerns as younger patients. There has been no secular decrease in patient concerns.

Response of Laryngopharyngeal Symptoms to Transoral Incisionless Fundoplication in Patients with Refractory Proven Gastroesophageal Reflux.

OBJECTIVE: Patients with laryngopharyngeal reflux (LPR) symptoms may not respond to proton pump inhibitors (PPI) if they have an alternative laryngeal diagnosis or high-volume reflux. Transoral incisionless fundoplication (TIF) or TIF with concomitant hiatal hernia repair (cTIF) are effective in decreasing symptoms of gastroesophageal reflux disease (GERD) but are not well studied in patients with LPR symptoms. This prospective multicenter study assessed the patient-reported and clinical outcomes after TIF/cTIF in patients with LPR symptoms and proven GERD. METHODS: Patients with refractory LPR symptoms (reflux symptom index [RSI] > 13) and with erosive esophagitis, Barrett's esophagus, and/or pathologic acid reflux by distal esophageal pH testing were evaluated before and after a minimum of 6 months after TIF/cTIF. The primary outcome was normalization of RSI. Secondary outcomes were >50% improvement in GERD-Health-Related Quality of Life (GERD-HRQL), normalization of esophageal acid exposure time, discontinuation of PPI, and patient satisfaction. RESULTS: Forty-nine patients had TIF (n = 26) or cTIF (n = 23) with at least 6 months follow-up. Mean pre- and post TIF/cTIF RSI were 23.6 and 5.9 (mean difference: 17.7, P < .001). Post TIF/cTIF, 90% of patients had improved GERD-HQRL score, 85% normalized RSI, 75% normalized esophageal acid exposure time, and 80% discontinued PPI. No serious procedure-related adverse events occurred. Patient satisfaction was 4% prior to TIF/cTIF and 73% after TIF/cTIF (P < .001). CONCLUSION: In patients with objective evidence of GERD, TIF, or cTIF are safe and effective in controlling LPR symptoms as measured by normalization of RSI and improvement in patient satisfaction after TIF/cTIF. LEVEL OF EVIDENCE: Level 4.

Association of anthelmintic treatment with malaria prevalence, incidence, and parasitemia: A systematic review and meta-analysis.

A chronic helminth infection can alter host immune response and affect malaria infection. We conducted a systematic review and meta-analysis to find the impact of anthelmintic treatment on malaria prevalence, incidence, and parasitemia. Nine and 12 electronic databases were searched on 28th July 2015 and 26th June 2020 for relevant studies. We performed meta-analysis for malaria prevalence, incidence, parasitemia, and a qualitative synthesis for other effects of anthelmintic treatment. Seventeen relevant papers were included. There was no association between anthelmintic treatment and malaria prevalence or change of parasitemia at the end of follow up period (pooled OR 0.93, 95% CI: 0.62, 1.38, p-value=0.71 and SMD -0.08, 95%CI: -0.24, 0.07, p-value=0.30 respectively) or at any defined time points in analysis. Pooled analysis of three studies demonstrated no association between malaria incidence and anthelmintic treatment (rate ratio 0.93, 95%CI: 0.80, 1.08, p-value=0.33). Our study encourages anthelmintic treatment in countries with high burden of co-infections as anthelmintic treatment is not associated with change in malaria prevalence, incidence, or parasitemia.

Abdominal actinomycosis mimicking malignancy: A case report.

Actinomycosis is the infection caused by Actinomyces bacilli; subtypes include cervicofacial, pulmonary, and abdominal/pelvic actinomycosis. Abdominal actinomycosis can mimic intra-abdominal malignancies by causing manifestations like chronic lower abdominal pain, weight loss, and palpable mass(es). Treatment usually requires three to six months of high-dose penicillin G or amoxicillin. This report discusses an 88-year-old female who presented with chronic abdominal pain, weight loss, and other nonspecific symptoms without palpable abdominal mass. However, computed tomography (C.T.) imaging revealed multiple intra-abdominal soft tissue masses in the greater omentum, anterior abdominal wall, and small bowel mesentery. On biopsy, filamentous bacilli suspicious of Actinomyces was identified. The patient received prolonged antimicrobial treatment, underwent multiple CT-guided aspirations of recurrent abscesses, and had surgical intervention for sigmoid stricture. On subsequent imaging, the patient showed significant amelioration of omental and anterior abdominal wall masses. This case highlights the importance of prompt recognition and subsequent management of Actinomyces as an etiology of malignancy-like symptoms.

Colon stenting in benign diverticular stricture - a case report and review of literature.

Background: Colonic stricture is a feared complication with varied etiology ranging from malignant obstruction to benign diseases. One such condition is recurrent diverticulitis-related strictures. Objectives & Methods: We report a case of a 48-year-old male patient with stricture of the sigmoid colon. The patient refused Sigmoid colon resection. He underwent stent placement and Two weeks later presented with constipation and abdominal discomfort. On Computed Tomography (CT) we discovered stent migration and consequent large bowel obstruction. Patient agreed on undergoing sigmoidectomy with a colostomy. Conclusion: Indication of SEMS for benign lesions remains unclear. Based on the current data, in benign colorectal obstructive lesions, SEMS is a viable option as a bridge to surgery when no other alternative option is available. However, the ASCRS 2020 guidelines did not point to SEMS as an option given the high rate of complications. Our patient was treated with a stent because he refused the resection surgery and found relief for a certain period before developing stent migration. Hence, the patients should be educated about the short and long-term potential effects of stenting before performing the procedure in benign strictures.

An Unusual Case of Suspected Lyme Neuroborreliosis in a Patient Presenting with Ear Pain.

We report a case of suspected Lyme neuroborreliosis (LNB) where the patient's sole symptom was chronic, intermittent episodes of unilateral ear pain. This case was unusual because this patient did not show any other neurological or extraneurological symptoms of Lyme disease. LNB is a manifestation of infection by Borrelia burgdorferi spirochetes that can manifest in a number of different clinical presentations depending on the nervous system dissemination of the bacteria. Most commonly, these neurological findings present as peripheral nerve radiculopathies, but rarer involvement of the central nervous system (CNS) can occur if a patient goes untreated. Most often, CNS involvement presents as meningitis with increased lymphocytes but can, in rarer cases, involve the spinal cord or brain parenchyma. The diagnosis of LNB was made after the patient was found to have suspicious lesions in the spinal cord and brain parenchyma on magnetic resonance imaging as well as cerebrospinal fluid Borrelia antibody index was consistent with CNS Lyme disease. We discuss this case as a unique clinical presentation of suspected LNB and the diagnostic findings associated with this infection.