Genetic overlap between Parkinson disease and inflammatory bowel disease

Importance Parkinson disease (PD) and inflammatory bowel disease (IBD) have been associated, implying shared pathophysiology. Characterizing genetic pleiotropy between the two conditions aids the exploration of common etiology. Objective To estimate the genetic correlation between PD and IBD and to identify specific loci influencing both conditions. Design Genetic study with applications of high definition likelihood and conditional false discovery rate (FDR) framework. Setting The study was based on summary statistics of genome-wide association studies (GWAS). Participants The PD GWAS comprised 37,688 cases and 981,372 controls, and the IBD GWAS included 25,042 cases and 34,915 controls. Participants were of mixed ethnicity. Exposures None. Main Outcomes and Measures The main outcomes were a set of single nucleotide polymorphisms (SNPs) identified by conditional FDR analysis as jointly associated with PD and IBD. Results Weak but statistically significant genetic correlations were detected for PD with both Crohn's disease (CD) and ulcerative colitis (UC), the two main subtypes of IBD. A total of 1333 SNPs in 28 genomic loci and 1915 SNPs in 22 loci were jointly associated with PD-CD and PD-UC, respectively, at conjunctional FDR under 0.01. The pleiotropic loci appeared distinctive for PD-CD and PD-UC, are mostly novel and comprise loci with either same or opposing genetic effects on the two phenotypes. Positional and eQTL mapping prioritized 316 PD-CD and 303 PD-UC genes, among which only <10% are differentially expressed in both colon and substantia nigra. The KEGG pathways enriched by all prioritized genes were highly concordant between PD-CD and PD-UC, with the majority being related to immune and/or autoimmune dysfunction. Conclusions and Relevance Overall, we found robust evidence for a genetic link between PD and each subtype of IBD. The identified genetic overlap is complex at the locus and gene levels, indicating the presence of both common etiology and antagonistic pleiotropy. At the functional level, our results highlighted a central role of host immunity and/or autoimmunity in the PD-IBD relationship.

Clinical outcomes of rescue stenting for failed endovascular thrombectomy: a multicenter prospective registry

BackgroundMechanical thrombectomy (MT) is a primary endovascular modality for acute intracranial large vessel occlusion. However, further treatment, such as rescue stenting, is occasionally necessary for refractory cases. We aimed to investigate the efficacy and safety of rescue stenting in first-line MT failure and to identify the clinical factors affecting its clinical outcome.MethodsA multicenter prospective registry was designed for this study. We enrolled consecutive patients who underwent rescue stenting for first-line MT failure. Endovascular details and outcomes, follow-up patency of the stented artery, and clinical outcomes were summarized and compared between the favorable and unfavorable outcome groups.ResultsA total of 78 patients were included. Intracranial atherosclerotic stenosis was the most common etiology for rescue stenting (97.4%). Seventy-seven patients (98.7%) were successfully recanalized by rescue stenting. A favorable outcome was observed in 66.7% of patients. Symptomatic intracranial hemorrhage and mortality were observed in 5.1% and 4.0% of patients, respectively. The stented artery was patent in 82.1% of patients on follow-up angiography. In a multivariable analysis, a patent stent on follow-up angiography was an independent factor for a favorable outcome (OR 87.6; 95% CI 4.77 to 1608.9; p=0.003). Postprocedural intravenous maintenance of glycoprotein IIb/IIIa inhibitor was significantly associated with the follow-up patency of the stented artery (OR 5.72; 95% CI 1.45 to 22.6; p=0.013).ConclusionsIn this multicenter prospective registry, rescue stenting for first-line MT failure was effective and safe. For a favorable outcome, follow-up patency of the stented artery was important, which was significantly associated with postprocedural maintenance of glycoprotein IIb/IIIa inhibitors.

Dependent and independent causes of hypercalcemia

Previous clinical studies show that the condition is significantly associated with mortality and increased cardiovascular morbidities. Accordingly, it is essential to conduct adequate diagnosis and evaluation to assess these cases properly. Studies show that different etiologies have been associated with hypercalcemia development with variable prevalence rates among different populations. Reduced PTH levels among patients with hypercalcemia indicate the presence of a non-PTH-dependant etiology for hypercalcemia. We have discussed various causes of hypercalcemia, including dependant and non-dependant causes. We found that malignancy-induced hypercalcemia is the commonest non-PTH-dependant etiology of hypercalcemia. Many malignancies were reported in the literature to attribute to the development of hypercalcemia. Vitamin D-mediated hypercalcemia was also reported as another common etiology for the condition. It might occur secondary to overdosing, immobilization, endocrine disorders, and granulomatous diseases. Other familial and congenital causes were also reported in the literature and discussed.

SERUM AFP (ALPHA FETO PROTEIN) LEVELS PROFILE OF HEPATOCELLULAR CARCINOMA PATIENTS IN DR. SOETOMO GENERAL ACADEMIC HOSPITAL, SURABAYA, INDONESIA

Higlight:1. The USG results of AFP level can be used for early detection and therapy of hepatocellular carcinoma that can prevent metastasis, progressivity, and recurrence. 2. The most common patients with high AFP levels are those with hepatitis B depending on etiology, younger age, male, gender, high SGOT level and BCLC B patients.Abstract:Background: Hepatocellular carcinoma (HCC) accounts for more than 90% of liver cancer which is the second most common cause of cancer-related death worldwide. The incidence of HCC was 626.000 cases every year worldwide. Early detection and therapy can prevent metastasis, progressivity, and recurrence. AFP level ≥ 400 ng/ml and USG results can be used as a diagnosis parameter of hepatocellular carcinoma. Objective: To analyze the AFP level’s profile in hepatocellular carcinoma. Materials and Methods: Descriptive methods used in this study with data collected from medical records on patients that fulfilled the inclusion criteria in Dr. Soetomo General Academic Hospital, Surabaya, Indonesia during the periods of 1st January 2013- December 31st 2015. This study used various variables such as age, gender, etiology and size of the tumor, number of a nodule, hepatic function with child classification, staging BCLC, and AFP level. Results: This study found that the 98 patients with hepatocellular carcinoma with high AFP level or >400 ng/ml were dominated by younger patients with average age of 49.91 years, the most common etiology was hepatitis B (56.8%), poor results of laboratory tests (SGOT, SGPT), patients with all level of hepatic function based on Child-Pugh classification and staging B of the tumor (70.5%). Patients with normal AFP ≤20 ng/ml were dominated by female patients, with the most common etiology of fatty liver and others, and with BCLC A and C staging. Descriptively, there was no difference in AFP level based on the number of nodules and size of tumor. Conclusion: The most common patients with high AFP level are those who have hepatitis B as etiology, younger age, male gender, high SGOT level and BCLC B staging. Meanwhile, patients with normal AFP level dominated with female and non-hepatitis patients. In this research, we found no differences of AFP level based on number and size of tumor descriptively.

Secukinumab, Pituitary Enlargement and Panhypopituitarism: Are They Related?

Pituitary adenomas represent the most common etiology of hypopituitarism associated with a pituitary enlargement, but other causes have been emerging, namely immune checkpoint inhibitors-induced hypophysitis (ipilimumab, nivolumab and pembrolizumab). Secukinumab is a recently approved human monoclonal antibody used for the treatment of psoriasis, with no know reported cases of hypophysitis. We describe a challenging case of panhypopituitarism in a patient with a pituitary incidentaloma and a timing relationship between secukinumab initiation and the manifestation of clinical features suggestive of hypopituitarism. In such intricate work-up, differential diagnosis should be carefully equated, taking into account the therapeutic and prognostic implications.

Flu pandemics: homeopathic prophylaxis and definition of the epidemic genius

Recent studies on viral genetics establish swine-H1N1 – responsible for the ongoing pandemics – as a remainder or continuation of the agent causing the flu epidemics of 1918. This study aimed at analyzing whether this common etiology also result in significant correlations of clinical manifestations. To do so, data were collected to compare the clinical evolution of cases in the 1918 and 2009 epidemics. This historical revision was the ground for evaluating the response to treatment including homeopathy in the former epidemics. It is discussed the convenience of including homeopathic prophylaxis grounded on the diagnosis of the epidemic genius among public health actions.

Sensitization to Food and Aeroallergens in Patients with Asthma, Allergic Rhinitis, Eczema and Urticaria

Background and Aims: Allergic disorders such as asthma, urticaria, eczema, and allergic rhinitis are common worldwide, and allergens are the most common etiology and exacerbating factors. So, This study aimed to find the allergens in these patients with skin prick tests. Materials and Methods: All the allergic cases referred to an allergic clinic in the north of Iran were visited by an allergist and clinical immunologist. Based on patient history, physical examination, and diagnosis, we select food allergens and aeroallergens. A standard skin prick test was performed on all patients, and all data was then analyzed SPSS 20. Results: Two thousand one hundred and twenty-eight cases entered the study with a mean age of 27.65 ± 15.52 years old. 1235 (58.04%) females and 893 males (41.96%) participated in this study. Prevalence of allergic rhinitis, asthma, urticaria, and eczema were 717 (33.7%), 611 (28.8%), 550 (25.8%), and 250 (11.7%), respectively. The most common aeroallergens were Dermatophagoides farinae (75.9%), Dermatophagoides pteronyssinus (65.4%), feather (56.1%), and Candida (51.1%), respectively, in all patients. The most common food allergens were egg white (31.1%), cacao (29.7%), and egg yolk (28.9%), respectively, in all cases. Conclusion: Both aeroallergens and food allergens were the most common in all allergens by skin prick test. Therefore, it is important to find the relationship between sensitization and allergy.

Deep Learning and Device-Assisted Enteroscopy: Automatic Detection of Gastrointestinal Angioectasia

Background and Objectives: Device-assisted enteroscopy (DAE) allows deep exploration of the small bowel and combines diagnostic and therapeutic capacities. Suspected mid-gastrointestinal bleeding is the most frequent indication for DAE, and vascular lesions, particularly angioectasia, are the most common etiology. Nevertheless, the diagnostic yield of DAE for the detection of these lesions is suboptimal. Deep learning algorithms have shown great potential for automatic detection of lesions in endoscopy. We aimed to develop an artificial intelligence (AI) model for the automatic detection of angioectasia DAE images. Materials and Methods: A convolutional neural network (CNN) was developed using DAE images. Each frame was labeled as normal/mucosa or angioectasia. The image dataset was split for the constitution of training and validation datasets. The latter was used for assessing the performance of the CNN. Results: A total of 72 DAE exams were included, and 6740 images were extracted (5345 of normal mucosa and 1395 of angioectasia). The model had a sensitivity of 88.5%, a specificity of 97.1% and an AUC of 0.988. The image processing speed was 6.4 ms/frame. Conclusions: The application of AI to DAE may have a significant impact on the management of patients with suspected mid-gastrointestinal bleeding.

Identification, Prevention and Treatment of Drug Toxicity in the Primary Care Settings

Studies from global countries indicate that poisoning is a common etiology for morbidities and associated mortality. Most of the cases did not require medical intervention as they were treated at home. However, around one-fourth required management at a healthcare facility. In addition to the healthcare burdens, evidence indicates that these events also have significant economic burdens on the affected patients and healthcare facilities. The present literature review provided evidence regarding the proper ways to identify patients presenting with suspected medication poisoning and the recommended management approaches. Obtaining a complete history from the patient should be the first step that can lead to diagnostic clues. Then, a thorough examination should be provided, followed by relevant imaging and laboratory studies to confirm the diagnosis. Management might be supportive in many cases, and an antidote can enhance the treatment process. Approaches should also be conducted to achieve decontamination and enhance the elimination of the affected patients.

ETIOLOGICAL PROFILE OF CHILDREN ADMITTED WITH FEVER WITHOUT FOCUS FOR LESS THAN 7 DAYS DURATION AT TERTIARY CARE CENTER

Objective: The objective of the study was to know about the etiology of acute undifferentiated febrile illness (AUFI) or fever without focus in children admitted at tertiary care hospital. Methods: A study was conducted at medical college, Jhalawar, for a period of 3 months. Pediatric patients presenting with fever for less than or equal to 7 days duration without focus, who required hospitalization were included in this study. Results: A total of 200 children enrolled in study. Male-to-female ratio was 1.9:1. Mean age of children was 7.21±4.2 years. About 142 (71%) patients presented after 3 days of fever. Average duration of fever before admission was 4.62±1.78 days. The most common cause of fever of short duration (less than 7 days) was dengue fever 74 (37%) followed by malaria 58 (29%) and typhoid fever 36 (18%). About 26 (13%) patients had mixed infection. Out of 200 patients, 70 (35%) patients had splenomegaly, 66 (33%) had hepatomegaly, and 26 (13%) patients had both hepatosplenomegaly. Conclusion: The common etiology of AUFI with short duration in children was dengue, malaria, and typhoid. Vector control measures, drinking water supply, and sanitation should be improved to prevent vector-borne and water-borne diseases.