Crown disease with extrainterinal manifestations in the form of granulematous alveolitis

Objective: To present a clinical description of the observation of a patient with Crohn’s disease (CD) with extraintestinal manifestations in the form of granulomatous alveolitis.Materials and Methods: A brief review of the literature on the current understanding of the prevalence and clinical manifestations of lung lesions in inflammatory bowel diseases (IBD) and CD, as well as a description of a patient with this pathology with the results of autopsy is presented.Results: The rare presence of granulomatous lung lesions in a patient with CD was proved.Conclusion: Difficulties in the differential diagnosis and treatment of CD lung lesions are shown. In particular, suspicion of tuberculous lesion, lung abscess creates potential risks of generalization of the process when using such therapeutic effects as glucocorticosteroids, cytostatics, immunosuppressants, biological genetically engineered drugs and active surgical intervention. The authors hope that the described observation will alert doctors in terms of possible systemic pulmonary lesions in CD.

Coronavirus disease 2019 associated stroke in a toddler – A case report

Background: Stroke, an infrequent entity in children, usually presents with headache, reduced cognition, and seizures as frequent findings. The association of paediatric stroke with Coronavirus disease 2019 (COVID-19) is unknown with only a hand full of postulated hypotheses till date. Clinical Description: A 2-year-old child with sudden onset focal neurological deficits and high COVID antibody titters has been reported soon after a brief episode of cough and cold. Magnetic resonance imaging brain suggested infarct in posterior cerebral circulation. All other inflammatory markers and prothrombotic work-up were normal pointing toward a territorial affliction. Management: Child responded well to anticoagulants (low molecular weight heparin and aspirin) with complete neurological recovery. Conclusion: Possibility of COVID-19 associated regional endotheliitis is very high in the aforesaid toddler. Our case is the youngest reported case of paediatric stroke with a possible association with COVID-19.

Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases

Background. Spinal muscular atrophy 5q (5q SMA) is the most frequent autosomal recessive hereditary neuromuscular disease. Molecular genetic testing is used for SMA diagnosis, and it can confirm only 5q SMA. The clinical findings and results of paraclinical studies may overlap with hereditary primary-muscular diseases making the diagnosis difficult and delaying the administration of pathogenetic treatment for 5q SMA.Clinical case description. Clinical description of 10 patients with 5q SMA aged from 3 months to 25 years with different severity of proximal tetraparesis, skeletal muscular atrophy and tendon reflexes depression is given. 3 patients under 2 years of age with myogenic pattern at needle electromyography (nEMG) in lateral vastus muscle and 7 patients over 2 years of age with increased levels of creatine phosphokinase (CPK) in blood serum were mistakenly diagnosed for inherited primary-muscular diseases for the period from 1 month to 12 years. After the genetic counselling based on the disease course and clinical findings we suspected and later confirmed 5q SMA.Conclusion. In case of flaccid proximal tetraparesis associated with myogenic pattern at nEMG in young children or with increased CPK levels at late manifestation it is crucial to perform differential diagnosis of 5q SMA since there are options of pathogenetic therapy.

Bibliometric Analysis of the Scientific Literature on Rheumatoid Arthritis-Associated Interstitial Lung Disease

Background. In recent years, the number of studies on rheumatoid arthritis-related interstitial lung disease (RA-ILD) has been increasing, which has led to many publications on this topic. Our purpose is to identify research trends in RA-ILD and analyze the most-cited RA-ILD-related high-quality scientific publications. Methods. All publications on RA-ILD in the Core Collection database of Web of Science were searched. The publication year, country, institution, total citations, and journal were extracted and analyzed. We used VOSviewer software or an online bibliometric analysis platform for cooccurrence analysis of the keywords, institutions, and countries involved. The 100 most frequently cited RA-ILD publications were analyzed. Results. In total, 596 publications related to RA-ILD were obtained. Over time, the frequency of RA-ILD publications has increased. Globally, the United States provides the most publications on RA-ILD ( n = 195 ). The institution with the highest publication output was the Mayo Clinic ( n = 43 ). The journal “Annals of the Rheumatic Diseases” published most with 93 articles and received 338 citations. A clinical description was the most common research topic in RA-ILD-related publications. Conclusions. In recent years, there has been an increasing number of studies on RA-ILD, and related publications have increased rapidly. This study is the first bibliometric study of RA-ILD-related publications. It can be used as a guide for clinicians and can help researchers choose research directions of interest in this field.

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

Background and ObjectivesOur objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare VPS16 variants observed in patients with dystonia and patients without dystonia, elaborate on our interpretation of VPS16 variants affecting different transcripts, and provide detailed clinical description of the movement disorder caused by VPS16 variants.MethodsIn-house exome and genome data sets (n = 11,539) were screened for rare heterozygous missense and putative loss-of-function (pLoF) variants in VPS16. Using pext (proportion expressed across transcripts) values from the Genome Aggregation Database (gnomAD), we differentiated variants affecting weakly and highly expressed exons/transcripts and applied statistical measures to systematically identify disease-associated genetic variation among patients with dystonia (n = 280).ResultsSix different heterozygous pLoFs in VPS16 transcripts were identified in 13 individuals. Three of these pLoFs occurred in 9 individuals with different phenotypes, and 3 pLoFs were identified in 4 unrelated individuals with early-onset dystonia. Although pLoFs were enriched in the dystonia cohort (n = 280; p = 2.04 × 10−4; 4/280 cases vs 9/11,259 controls; Fisher exact test), it was not exome-wide significant. According to the pext values in gnomAD, all 3 pLoFs observed in the patients with dystonia were located in the highly expressed canonical transcript ENST00000380445.3, whereas 2 of 3 pLoFs detected in 8 individuals without dystonia were located in the first exon of the noncanonical transcript ENST00000380443.3 that is weakly expressed across all tissues. Taking these biological implications into account, pLoFs involving the canonical transcript were exome-wide significantly enriched in patients with dystonia (p = 1.67 × 10−6; 4/280 cases vs 1/11,259 controls; Fisher exact test). All VPS16 patients showed mild progressive dystonia with writer's cramp as the presenting symptom between age 7 and 34 years (mean 20 years) that often progressed to generalized dystonia and was even accompanied by hyperkinetic movements and myoclonus in 1 patient.DiscussionOur data provide strong evidence for VPS16 pLoFs to be implicated in dystonia and knowledge on exon resolution expression levels as well as statistical measures proved to be useful for variant interpretation.