International Impact of COVID-19 on the Diagnosis of Heart Disease

BACKGROUND The coronavirus disease 2019 (COVID-19) pandemic has adversely affected diagnosis and treatment of noncommunicable diseases. Its effects on delivery of diagnostic care for cardiovascular disease, which remains the leading cause of death worldwide, have not been quantified.OBJECTIVES The study sought to assess COVID-19`s impact on global cardiovascular diagnostic procedural volumes and safety practices.METHODS The International Atomic Energy Agency conducted a worldwide survey assessing alterations in cardiovascular procedure volumes and safety practices resulting from COVID-19. Noninvasive and invasive cardiac testing volumes were obtained from participating sites for March and April 2020 and compared with those from March 2019. Availability of personal protective equipment and pandemic-related testing practice changes were ascertained.RESULTS Surveys were submitted from 909 inpatient and outpatient centers performing cardiac diagnostic procedures, in 108 countries. Procedure volumes decreased 42% from March 2019 to March 2020, and 64% from March 2019 to April 2020. Transthoradc echocardiography decreased by 59%, transesophageat echocardiography 76%, and stress tests 78%, which varied between stress modalities. Coronary angiography (invasive or computed tomography) decreased 55% (p < 0.001 for each procedure). hi multivariable regression, significantly greater reduction in procedures occurred for centers in countries with lower gross domestic product. Location in a low-income and lower-middle-income country was associated with an additional 22% reduction in cardiac procedures and less availability of personal protective equipment and teteheatth.CONCLUSIONS COVID-19 was associated with a significant and abrupt reduction in cardiovascular diagnostic testing across the globe, especially affecting the world's economically challenged. Further study of cardiovascular outcomes and COVID-19-related changes in care delivery is warranted. (C) 2021 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Restoration of active forearm flexion in children with arthrogryposis:results of transfer of long head of triceps

The purpose of this study was to analyze resultsof the long head of triceps transfer for active elbowflexion restoration in children with arthrogryposis.— Materials and Methods. 29 patients with lack of active elbow flexion aged from 10 months to 15 years were examined and treated in Turner Scientific and Research Institute for Children’s Orthopedics from2008 to 2014. The relation between potential donormuscle condition and the level of segmental spinalcord lesions was determined on the basis of clinical,neurological, physiological and ultrasound examina-tions. 35 transpositions of long head of the triceps in29 children were performed (17 - with mobilizationand 18 - without mobilization of the elbow).— Results and Conclusion. Analysis of long-termresults of long head of triceps transposition as a ped-icle flap in patients with arthrogryposis has shown theeffectiveness of restoration of active forearm flexion.Good results were noted in 35 %, satisfactory in 35 %and pure in 30 % of cases in the series.</jats:p

Human diseases associated with NTE gene

Evolutionary conserved NTE gene is important for survival and functioning of nervous system cells, its dysfunction leads to various pathologies. Here we describe characteristics of different disorders induced by NTE protein activity inhibition (OPIDN) or by NTE gene mutations: hereditary spastic paraplegia (SPG39), Boucher Neuhaser, Gordon Holmes, Laurence Moon, Oliver McFarlane syndromes, Leber congenital amaurosis, pure cerebellar ataxia. Current review summarises accumulated data about clinical features of NTE associated diseases, presenting them in a historical way of biomedical studies, and observes molecular and genetic causes of these disorders.</jats:p

Loeys–Dietz syndrome (literature review and case description)

Background. The LoeysDietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome.&#x0D; Clinical case. The article presents a clinical observation of a 7-year-old patient with LoeysDietz syndrome with a genetically confirmed diagnosis.&#x0D; Discussion. This article provided a literature review, examined diagnosis issues and differential diagnosis, and presented the clinical picture of the syndrome. The main symptoms of LoeysDietz syndrome are artery aneurysms (most often in the aortic root), arterial tortuosity (mainly the vessels of the neck), hypertelorism, and bifid (split) or broad uvula. However, the combination of these symptoms is not found in all patients with this disease.&#x0D; Conclusions. The article emphasized the importance of a genetic verification of the disease, as well as a multidisciplinary approach to treatment with mandatory dynamic monitoring by specialists such as a cardiologist, neurologist, orthopedist, and pediatrician, which help prevent the development of complications and increase the life expectancy of this group of patients.</jats:p

Posterior artrolysis of the elbow, as a method of correction extensor contracturing of the elbow in children with arthrogryposis

Background. In children with arthrogryposis, a lack of elbow flexion with extensor elbow contractures limits the childs self-care.&#x0D; Aim. The aims of this study were to follow and analyze treatment results after posterior arthrolysis of the elbow joint with lengthening (Z-plasty, according to the V-Y technique) or without lengthening the triceps of the shoulder in children with arthrogryposis in different age groups.&#x0D; Materials and methods. Data from 109 patients with arthrogryposis with extensor contractures in the elbow joints (158 joints) who underwent posterior arthrolysis of the elbow joint to increase passive flexion in the elbow joint from 2005 to 2018 were included in this study. Clinical, and X-ray examination of patients was carried out.&#x0D; Results. The children were divided into nine groups depending on their age at the time of the operation and the method of surgical correction (with or without lengthening of the triceps muscle). The follow-up period in the postoperative period in the main group of patients (67.1% of cases) was 4.5 years. Good treatment results were observed in 95.83% of children younger than 3 years who did not lengthen the triceps compared with 85.56% of children of the same age who extended the triceps tendon. The amplitude of passive movements after surgery was greatest in children younger than 1 year and was greater with lengthening (104.00 16.24) than without lengthening (91.38 10.27) of the triceps tendon (p 0.001). However, in cases where lengthening of the triceps tendon was not performed, extension was less limited. Over 3 years, m. triceps br. showed satisfactory results with Z-extension and V-Y extension, increasing to 19.44% and 36.51%, respectively. Results of treatment in children older 7 than years were comparable with those of children 37 years old.&#x0D; Conclusions. In children with arthrogryposis after posterior arthrolysis of the elbow joint, receiving a passive range of motion in the elbow joint allowed the child to use adaptive mechanisms for self-care. The results of treatment with extensor elbow contracture after posterior artrolysis depended not on the elongation technique (V-Y or Z-plasty) but on the angle at which the triceps tendon was sewed, the patients age at the time the operation was performed, and the postsurgery rehabilitation of the child.</jats:p

Bruck syndrome: a case report

The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate) had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect

Hereditary sensory motor polyneuropathy

Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.&#x0D; Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.</jats:p

Transcriptional Changes Associated with Amyoplasia

Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations. At present, the pathogenesis of this disease is not clearly understood, and its diagnosis is often complicated due to significant phenotypic diversity, which can result in delayed detection and, consequently, limited options for symptomatic treatment. In this study, a transcriptomic analysis of the affected muscles from patients diagnosed with amyoplasia was performed, and more than 2000 differentially expressed genes (DEGs) were identified. A functional analysis revealed disrupted biological processes, such as vacuole organization, cellular and aerobic respiration, regulation of mitochondrion organization, cellular adhesion, ATP synthesis, and others. The search for key nodes (hubs) in protein&ndash;protein interaction networks allowed for the identification of genes involved in mitochondrial processes