scholarly journals Raynaud’s phenomenon in the endocrinologist’s practice

2020 ◽  
Vol 16 (4) ◽  
pp. 37-45 ◽  
Author(s):  
Taras S. Panevin ◽  
Rizvan T. Alekperov ◽  
Galina A. Melnichenko

Raynauds phenomenon or syndrome (RS) is an episodic attacks of transient digital ischemia resulting from vasospasm of the digital artery, precapillary arterioles, and skin arteriovenous shunts in response to exposure to cold temperature or emotional stress. Prevalence averages 35%. The high prevalence of RS in the population, as well as the frequent association with other, often life-threatening, diseases and conditions, determines its clinical significance. In 8090% of cases, RS is idiopathic. It is assumed that the spasmodic reactivity of the vessels is caused by a violation of the central and local dysregulation of vascular tone. The most important role is played by vascular endothelial, intravascular and neuronal disorders. In at least 10% of cases, this is a secondary phenomenon. Most often, RS is associated with systemic rheumatic diseases. Along with this, endocrine diseases can develop, including those affected by the pituitary, thyroid and parathyroid glands, adrenal glands, and diabetes mellitus. In some cases, RS may be the only symptom of endocrine pathology. In general, SR is a condition with a favorable outlook and a stable course. The most informative instrumental method for the differential diagnosis of primary and secondary syndrome is the capillaroscopy of the nail bed.

Author(s):  
Fernando Scudiero ◽  
Antonino Pitì ◽  
Roberto Keim ◽  
Guido Parodi

Abstract Background Despite the fast-growing understanding of the coronavirus disease 2019 (COVID-19), patient management remains largely empirical or based on retrospective studies. In this complex scenario, an important clinical issue appears to be represented by the high prevalence of thromboembolic events, but the data regarding high-risk pulmonary embolism (PE) is still not available. Case summary A patient with COVID-19 developed sudden shortness of breath and hypoxia. Early echocardiographic diagnosis of high-risk PE related to right heart thrombus was performed. Systemic thrombolysis was administered with excellent clinical and haemodynamic response. Discussion Pulmonary thromboembolism is a common occurrence in severe COVID-19 infection. In our experience, systemic thrombolysis proved to be effective and for this reason may be considered for life-threatening PE in COVID-19 patients.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jamila S. Al Malki ◽  
Nahed Ahmed Hussien ◽  
Fuad Al Malki

Abstract Background Toxoplasmosis resulting from infection with the Toxoplasma parasite has become an endemic disease worldwide. Recently, a few studies have reported a high prevalence of Toxoplasmosis infections among Saudi Arabian women. This disease could become life threatening for pregnant women and for immunodeficient people. There is evidence that infections during pregnancy, especially in the early stages, are associated with neurodevelopmental disorders. Autism disorder represents one of the most common neurodevelopmental disorders worldwide; it is associated with delayed language development, weak communication interaction, and repetitive behavior. The relationship between prenatal toxoplasmosis and autism in childhood remains unclear. The present study aims to report a link between maternal toxoplasmosis and autistic offspring among Saudi Arabian women. Method Blood samples (36 maternal, 36 from their non-autistic children, and 36 from their autistic children) were collected for serological and molecular evaluation. Results A toxoplasmosis infection was reported for 33.34% of participants using an ELISA assay (5.56% IgG+/IgM+, 11.11% IgG−/IgM+, and 16.67% IgG+/IgM-); however, a nested PCR assay targeting B1 toxoplasmosis specific genes recorded positive tests for 80.56% of the samples. In addition, the present study detected several points of mutation of mtDNA including NADH dehydrogenase (ND1, ND4) and Cyt B genes and the nDNA pyruvate kinase (PK) gene for autistic children infected with toxoplasmosis. Conclusion Considering previous assumptions, we suggest that a maternal toxoplasmosis infection could have a role in the development of childhood autism linked to mtDNA and nDNA impairment.


2021 ◽  
pp. 1-6
Author(s):  
Daniel Rinnström ◽  
Mikael Dellborg ◽  
Ulf Thilén ◽  
Peder Sörensson ◽  
Niels-Erik Nielsen ◽  
...  

Abstract Background: Ascending aortic dilation is a feared complication in adults with repaired coarctation of the aorta, as the condition is associated with life-threatening complications such as aortic dissection and rupture. However, the data are currently limited regarding factors associated with ascending aortic dilation in these patients. Methods and results: From the national register of congenital heart disease, 165 adult patients (≥ 18 years old) with repaired coarctation of the aorta, and echocardiographic data on aortic dimensions, were identified (61.2% male, mean age 35.8 ± 14.5 years). Aortic dilation (aortic diameters > 2 SD above reference mean) was found in 55 (33.3%) of the 165 included patients, and was associated with manifest aortic valve disease in univariable logistic regression analysis (OR 2.44, 95% CI [1.23, 4.83]). Conclusions: Aortic dilation is common post-repair of coarctation of the aorta, and is associated with manifest aortic valve disease and thus indirectly with the presence of a bicuspid aortic valve. However, no association was found between aortic dilation and age or blood pressure.


2014 ◽  
Vol 13 (8) ◽  
pp. 965-976 ◽  
Author(s):  
Ira J. Blader ◽  
Anita A. Koshy

ABSTRACTIntracellular pathogens can replicate efficiently only after they manipulate and modify their host cells to create an environment conducive to replication. While diverse cellular pathways are targeted by different pathogens, metabolism, membrane and cytoskeletal architecture formation, and cell death are the three primary cellular processes that are modified by infections.Toxoplasma gondiiis an obligate intracellular protozoan that infects ∼30% of the world's population and causes severe and life-threatening disease in developing fetuses, in immune-comprised patients, and in certain otherwise healthy individuals who are primarily found in South America. The high prevalence ofToxoplasmain humans is in large part a result of its ability to modulate these three host cell processes. Here, we highlight recent work defining the mechanisms by whichToxoplasmainteracts with these processes. In addition, we hypothesize why some processes are modified not only in the infected host cell but also in neighboring uninfected cells.


Author(s):  
Mohammad Tauseef ◽  
Madeeha Aqil ◽  
Dolly Mehta

During inflammatory conditions, such as sepsis, myocardial infarction and acute respiratory distress syndrome, endothelial cell-cell junctions start to disrupt because of the internalization of the junctional proteins such as vascular endothelial (VE) cadherin. This leads to the formation of minute inter-endothelial gaps, and the infiltration of protein-rich fluid and immune cells in the interstitial space. If remains unchecked, the persistent buildup of edema underlying the endothelial lining sets the stage for the serious life-threatening complications and ultimately leads to the multi-organ failure and death. Thus, to determine the molecular mechanisms underlying the opening and resolution phase of the gap formation, will provide an insight to better understand the pathology of the cardiovascular and pulmonary inflammatory disorders. In this chapter, we will discuss about how the signaling mechanisms activated by the known inflammatory molecules increase endothelial permeability.


Folia Medica ◽  
2013 ◽  
Vol 55 (2) ◽  
pp. 73-79 ◽  
Author(s):  
Stanislava N. Harizanova ◽  
Tanya H. Tarnovska

ABSTRACT INTRODUCTION: Correctional facilities present unique work places - the employees there work in tough, demanding and hazardous working conditions, in real life-threatening environment, subjected to physical and mental fatigue, risk of infectious diseases, work in shifts, with inadequate pay, etc. The aim of this study was to find the prevalence and level of burnout syndrome among employees working in the District Prison of the town of Plovdiv. MATERIAL AND METHODS: The study included all employees that had direct contact with the inmates in the prison. We recruited 106 employees that participated in the study anonymously and voluntarily. The main instrument we used was the questionnaire designed according to the methods developed by V. Boiko, which allows identification of professional burnout syndrome in its three phases with four symptoms in each of the phases. RESULTS: We found a high prevalence of burnout syndrome among the staff in the District Prison in Plovdiv (74.53%). All three phases of burnout were found to have a high prevalence rate - the stress phase: 48.11%, the resistance phase: 66.98%, the exhaustion phase: 41.51%. The rank in the service hierarchy was found to be a predictor in the stress phase, B = 0.701, p = 0.048, Exp(B) = 2.106, 95%CI [1.00; 4.04]. The single officers (83.33% of the divorced and 55.56% of the single employees) and those of the staff that were more highly educated (78.72%) had elevated levels of burnout syndrome, and these manifested during the first 5 years of their service in the prison (77.78%). CONCLUSION: In Bulgaria at present the burnout syndrome has not been studied among employees working in correctional facilities. We found a high prevalence of the syndrome among the employees of the District Prison - Plovdiv. The younger, the single and the more educated employees had greater levels of burnout syndrome, which manifest during the first 5 years of their service. The results suggest that there is a need to develop and implement effective strategies to reduce and prevent development of burnout syndrome.


2008 ◽  
Vol 2 (2) ◽  
pp. 125-129 ◽  
Author(s):  
Melissa Frei-Jones ◽  
Robert C. McKinstry ◽  
Arie Perry ◽  
Jeffrey R. Leonard ◽  
Tae Sung Park ◽  
...  

Infantile or capillary hemangioma is the most common vascular tumor of childhood. The tumors most frequently affect the head and neck area, but rare cases of intracranial lesions have been reported. Their natural history is marked by initial rapid growth velocity followed by a plateau and, in most cases, subsequent involution. Although the lesions are considered benign, 10% of affected children develop life-threatening complications (mortality rate 20–80% in this subgroup). When surgical intervention or other methods of local control are not possible, therapeutic options are limited. Corticosteroids have been the mainstay of therapy but therapeutic response is not predictable and the infectious risk is not negligible. Interferon α-2a may also be effective but has significant toxicities. Vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) have been implicated in the pathogenesis of hemangiomas, and antiangiogenesis agents are being evaluated in the treatment of these tumors. Thalidomide may be an ideal therapy for life-threatening hemangiomas because it inhibits new blood vessel formation by antagonizing both the bFGF and VEGF pathways and has a more acceptable toxicity profile than other agents. The authors present the case of an infant born with a life-threatening, unresectable intracranial hemangioma in which treatment with thalidomide resulted in a good clinical outcome.


2017 ◽  
Vol 95 (6) ◽  
pp. 549-552
Author(s):  
E. N. Smirnova ◽  
Evgeniya A. Loran ◽  
S. G. Shulkina

Special attention is given to MS bearing in mind its high prevalence in the general population (up to 14-24 %) which is twice the prevalence of diabetes. The study included 50 patients with MS at the age of 25 to 61 years. The group of comparison contained 16 healthy individuals aged 45,3±2,3 years. To evaluate the response of microvascular tone, the wavelet analysis of fluctuations of skin temperature during limb cooling was used. Vascular endothelial growth factor (VEGF) served as a biochemical marker of endothelial dysfunction. Heart rate variability was evaluated in all patients. It was shown that patients with MS were significantly different in terms of all metabolic parameters; their VEGF levels were much higher than in the comparison group. Disturbances of vasodilation identified in the functional cold test in patients with MS confirm the relationship between abnormal vascular reactivity and endothelial dysfunction markers. The cardiointervalographic examination of MS patients revealed typical manifestations of autonomous cardiac neuropathy.


2012 ◽  
Vol 7 ◽  
Author(s):  
Sabina A. Antoniu

Idiopathic pulmonary fibrosis is a rare, life threatening disease characterized by an anarchic fibrogenesis, limited survival and few therapeutic options. Its pathogenesis is complex and involves the interaction among various pathways driven by proinflammatory/profibrogenetic mediators such as platelet -derived growth factor, vascular endothelial growth factor or basic fibroblast growth factor. Given their prominent pathogenic roles in this disease such growth factor might be suitable therapeutic targets.In fact, the existing preclinical and clinical data demonstrated that their therapeutic inhibition results in a delayed progression of the pulmonary fibrosis and in the improvement of the disease outcome. BIBF 1120 is a potent triple blocker of the receptors of these growth factors which is currently evaluated as a potential therapy in the idiopathic pulmonary fibrosis. This review discusses the existing data supporting its potential use in this disease.


2019 ◽  
Vol 40 (35) ◽  
pp. 2964-2975 ◽  
Author(s):  
Lia Crotti ◽  
Carla Spazzolini ◽  
David J Tester ◽  
Alice Ghidoni ◽  
Alban-Elouen Baruteau ◽  
...  

Abstract Aims Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1–3) that encode identical calmodulin proteins. We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history, clinical features, and response to therapy of patients with a CALM-mediated arrhythmia syndrome. Methods and results A dedicated Case Report File was created to collect demographic, clinical, and genetic information. ICalmR has enrolled 74 subjects, with a variant in the CALM1 (n = 36), CALM2 (n = 23), or CALM3 (n = 15) genes. Sixty-four (86.5%) were symptomatic and the 10-year cumulative mortality was 27%. The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%). CALM-LQTS patients have extremely prolonged QTc intervals (594 ± 73 ms), high prevalence (78%) of life-threatening arrhythmias with median age at onset of 1.5 years [interquartile range (IQR) 0.1–5.5 years] and poor response to therapies. Most electrocardiograms (ECGs) show late onset peaked T waves. All CALM-CPVT patients were symptomatic with median age of onset of 6.0 years (IQR 3.0–8.5 years). Basal ECG frequently shows prominent U waves. Other CALM-related phenotypes are idiopathic ventricular fibrillation (IVF, n = 7), sudden unexplained death (SUD, n = 4), overlapping features of CPVT/LQTS (n = 3), and predominant neurological phenotype (n = 1). Cardiac structural abnormalities and neurological features were present in 18 and 13 patients, respectively. Conclusion Calmodulinopathies are largely characterized by adrenergically-induced life-threatening arrhythmias. Available therapies are disquietingly insufficient, especially in CALM-LQTS. Combination therapy with drugs, sympathectomy, and devices should be considered.


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