scholarly journals Gender characteristics of the clinical manifestations of cardiovascular system involvement in X-linked Alport syndrome

Author(s):  
O. S. Groznova ◽  
V. V. Dlin ◽  
L. I. Shagam ◽  
D. V. Shentseva ◽  
N. E. Konkova
2020 ◽  
Author(s):  
Juan I. Guerrero ◽  
Luis A. Barragán ◽  
Juan D. Martínez ◽  
Juan P. Montoya ◽  
Alejandra Peña ◽  
...  

Abstract Background: SARS-CoV-2 can affect the human brain and other neurological structures. An increasing number of publications report neurological manifestations in patients with COVID-19. However, no studies have comprehensively reviewed the clinical and paraclinical characteristics of the central and peripheral nervous system's involvement in these patients. This study aimed to describe the features of the central and peripheral nervous system involvement by COVID-19 in terms of pathophysiology, clinical manifestations, neuropathology, neuroimaging, electrophysiology, and cerebrospinal fluid findings.Methods: We conducted a comprehensive systematic review of all the original studies reporting patients with neurological involvement by COVID-19, from December 2019 to June 2020, without language restriction. We excluded studies with animal subjects, studies not related to the nervous system, and opinion articles. Data analysis combined descriptive measures, frequency measures, central tendency measures, and dispersion measures for all studies reporting neurological conditions and abnormal ancillary tests in patients with confirmed COVID-19.Results: A total of 143 observational and descriptive studies reported central and peripheral nervous system involvement by COVID-19 in 10723 patients. Fifty-one studies described pathophysiologic mechanisms of neurological involvement by COVID-19, 119 focused on clinical manifestations, 4 described neuropathology findings, 62 described neuroimaging findings, 28 electrophysiology findings, and 60 studies reported cerebrospinal fluid results. The reviewed studies reflect a significant prevalence of the nervous system's involvement in patients with COVID-19, ranging from 22.5% to 36.4% among different studies, without mortality rates explicitly associated with neurological involvement by SARS-COV-2. We thoroughly describe the clinical and paraclinical characteristics of neurological involvement in these patients. Conclusions: Our evidence synthesis led to a categorical analysis of the central and peripheral involvement by COVID-19 and provided a comprehensive explanation of the reported pathophysiological mechanisms by which SARS-CoV-2 infection may cause neurological impairment. International collaborative efforts and exhaustive neurological registries will enhance the translational knowledge of COVID-19's CNS and PNS involvement and generate strategies for therapeutic decision-making.Registration: This review is registered in PROSPERO (CRD42020193140), July 24, 2020.


2021 ◽  
pp. 164-169
Author(s):  
V. V. Tsurko ◽  
M. A. Gromova

Introduction. To date, there is no consensus regarding the gender characteristics of the course of gout. There is little data on the possible difference between men and women in response to uric acid-lowering therapy.Aim. To compare the clinical characteristics of the course of gout and evaluate the differences in response to urate-lowering therapy (ULT) with allopurinol and febuxostat in men and women.Material and methods. The retrospective cohort study included 279 men and 83 women diagnosed with gout (ACR/EULAR, 2015). The comparative analysis of the clinical characteristics of gout, as well as responses to the intake of xanthioxidase (XO) inhibitors in representatives of different sexes, was carried out. We compared the gender characteristics of obtaining a positive response to ULT, defined as achieving a target serum uric acid (sUA) level of < 360 μmol / l within 6 months of treatment, while taking allopurinol and febuxostat.Results. By the age at which the onset of gout took place, women were older than men, the duration of the disease in them was shorter. Men showed a shorter duration of the first attack of arthritis. Chronic arthritis was diagnosed in 56% of men and 35% of women (p < 0.05). The process involved the joints of both the lower and upper extremities. However, more often the joints of the lower extremities were affected in men, and in the upper extremities in women. Tophus were detected in 35% of patients, of whom 30.3% were men, 4.7% were women (p < 0.05). Allopurinol was prescribed to 216 men and 54 women, and febuxostat was prescribed to 63 men and 29 women. After six months, the proportion of women who achieved the target sUA was 57.5% and 65.8%, the proportion of men – 60.4% and 76.2% for allopurinol and febuxostat, respectively.Conclusion. The clinical manifestations of gout in men and women differ. Due to the pronounced increase in the level of uric acid, men develop more severe joint damage due to the tendency to chronicity. However, the study did not reveal gender differences in the response to XO inhibitors, which indicates that there is no need to choose therapy depending on the patient’s gender.


Author(s):  
V.G. Yarkova ◽  
◽  
V.A. Zhmurov ◽  
E.B. Klester ◽  

Abstract: Purpose of the study: To assess the effects of magnesium deficiency on the indices of lipid metabolism in patients with an arterial hypertension locomotive crews. Purpose of the work: To assess the effect of magnesium deficiency on the pathogenesis of the formation of arterial hypertension in workers of locomotive crews. Correction methods. Materials and methods: This work presents an analysis of the results of clinical observation, special biochemical and functional studies of 136 male patients with arterial hypertension, workers of locomotive crews. Results: In workers of locomotive crews patients with hypertension, increased individual cardiovascular risk according to the SCORE scale, remodeling of the cardiovascular system, as well as the risk of developing occupational disability are interrelated with signs of magnesium deficiency. Conclusion: The inclusion of a complex preparation of magnesium and vitamin B6 in the therapy of arterial hypertension in workers of locomotive crews has a significant effect on the clinical manifestations of chronic stress, magnesium deficiency, improves the dynamics of lipid metabolism, the structural and functional state of the cardiovascular system, and professionally important qualities.


1996 ◽  
Vol 54 (2) ◽  
pp. 190-196 ◽  
Author(s):  
Osvaldo Genovese ◽  
Carlos Ballario ◽  
Ruben Storino ◽  
Elsa Segura ◽  
Roberto E. R. Sica

We conducted a clinical and electromyographical study in patients with Chagas' disease in the indeterminate or chronic stages of the illness. Altogether 841 patients were examined. Only 511 were admitted within the protocol; the remainder patients were rejected because they showed other causes able to damage the nervous system. Fifty two (10.17%) out of the 511 patients showed signs and symptoms of peripheral nervous system involvement in the form of sensory impairment and diminished tendon jerks suggesting the presence of neuropathy. Forty five of them were submitted to a conventional electromyographical examination. Fifteen of mem showed normal results, while the remainder 30 disclosed a reduced interference pattern, being most of the remaining motor unit potentials fragmented or poliphasic, reduced sensory and motor conduction velocities and diminished amplitude of the sensory action potential. The findings suggest that some chagasic patients in the indeterminate or chronic stages of the disease may develop a clinical mild sensory-motor peripheral neuropathy.


Author(s):  
Vasyl Pantik

The research urgency is caused by necessity of studying the students somatic health level due to a sharp deterioration of health state during the last decade. The aim of the investigation is studying the dynamics and nosological forms of students diseases of higher educational institutions. The results of the work. It is established that the incidence of students in the dynamics of 2010–2016 is growing rapidly. The diseases of cardiovascular system, stomach and digestive organs, musculoskeletal system are the most common. In the analysis of nosologic forms of diseases for a gender characteristics, the percentage of women with pathology, from the first to the fourth year study within the specified research period is significantly more than men. Conclusions. The state of students health is unsatisfactory. This requires the search for new approaches for setting issue of youth health.


2021 ◽  
Vol 8 (35) ◽  
pp. 3230-3235
Author(s):  
Soumya Satna ◽  
Ramadevi Devagudi ◽  
Ramu Pedada ◽  
Narayana Lunavath

BACKGROUND Perinatal asphyxia (PA) is an important cause of neonatal morbidity, mortality, and neurologic handicap in children. Dysfunction of organs other than central nervous system is often recognised after perinatal asphyxia and manifests as hypoxic ischaemic insults to heart, lungs, kidneys and bowel. The purpose of this study was to assess the spectrum of multi-organ system involvement in perinatal asphyxia. METHODS This observational, descriptive study was conducted at SVRRGGH (Sri Venkateswara Ramnarayan Ruia Government General Hospital) - Tirupati from October 2010 to September 2011 and has Institutional Ethics Committee approval (Regd. No: 58647, Dt: 20 / 11 / 2010). After considering the inclusion and exclusion criteria, 204 neonates diagnosed with perinatal asphyxia who got admitted in our newborn intensive care unit (NICU) were included in this study. RESULTS In the present study, we had 118 (57.89 %) male babies and 86 (42.11 %) female babies. The mean birth weight was 2640 +/- 460 grams. Infants of birth weight 2500 - 4000 grams (appropriate for gestational age - AGA) accounted for 202 (98.96 %). Major maternal risk factors in this study were MSAF (meconium-stained amniotic fluid (66/204, 32.4 %), PIH (pregnancy induced hypertension) and Eclampsia (26/204, 12.7 %) and PROM (premature rupture of membranes) (26/204, 12.7 %). In the present study, we found higher mortality (19/117, 16.2 %) in babies born to multiparous mothers. Respiratory system involvement was seen in 80 (39.2 %) infants. Renal involvement was observed in 58 (27.5 %) infants. Acute renal failure was diagnosed in 22 (10.8 %) cases. CVS (cardiovascular system) involvement was seen in 56 (27.5 %) cases where as GIT (gastrointestinal tract) involvement was found in 32 (15.68 %) cases. CONCLUSIONS Epidemiological research is needed to accurately estimate the contribution of birth asphyxia to perinatal morbidity and mortality, especially in community settings where the burden of disease, due to high proportion of unattended deliveries, is likely to be larger than the hospital setting. KEYWORDS Perinatal Asphyxia, Neonatal Intensive Care Unit, Hypoxic Ischaemic Encephalopathy, Multi Organ Dysfunction, Cardiovascular System


2009 ◽  
Vol 30 (5) ◽  
pp. 541-541
Author(s):  
Melania Pulcrano ◽  
Emiliano Palmieri ◽  
Deborah Mannavola ◽  
Irene Campi ◽  
Danila Covelli ◽  
...  

ABSTRACT Background The clinical manifestations of resistance to thyroid hormone (RTH) are highly variable, and the impact of RTH on the cardiovascular system has been poorly investigated. Aim The objective of the study was to evaluate the cardiovascular characteristics of 16 untreated and asymptomatic patients with RTH compared with 16 euthyroid healthy controls to define the cardiovascular involvement in RTH syndrome. Patients and Methods Sixteen untreated and asymptomatic RTH patients (eight males; aged 33 ± 12 yr, range 21–45 yr) and 16 controls (nine males; aged 33 ± 5 yr, range 24–42 yr) were enrolled. Clinical data, thyroid status, and echocardiographic results were recorded. Results Heart rate was comparable with that of controls, whereas arterial pressure was higher than controls. Mean interventricular septum diastolic thickness and mean left ventricular (LV) posterior wall diastolic thickness were significantly lower in RTH patients than controls with a consequent significant decrease of the mean LV mass and LV mass indexed by body surface area. Patients also had abnormalities of myocardial relaxation as indicated by a significant increase of peak A and consequent reduction of the early to late ratio. Finally, systemic vascular resistance was significantly higher in RTH patients than controls. Conclusions Our results suggest the presence of cardiovascular alterations in asymptomatic and untreated RTH patients similar to those reported in hypothyroid patients. Our strict selection likely created a bias in the inclusion of a particular type of RTH patients, who could represent a minority of patients with RTH. However, no correlation was found between the type of mutation and cardiovascular characteristics of RTH patients.


2019 ◽  
Vol 48 (3) ◽  
pp. 030006051989129
Author(s):  
Wen Hao ◽  
Lina Ao ◽  
Chenli Zhang ◽  
Lei Zhu ◽  
Deqiong Xie

Immunoglobulin A (IgA) nephropathy is the most common glomerular disease, and it often manifests as persistent microscopic hematuria or gross hematuria. Fabry disease and Alport syndrome are hereditary diseases caused by mutation of genes, and these diseases are rare in China. At present, patients can be diagnosed with IgA nephropathy by clinical manifestations and laboratory examinations, but there is still controversy about the simultaneous diagnosis of Alport syndrome and Fabry disease in patients with IgA nephropathy. The present case was a 17-year-old girl with hematuria and proteinuria who underwent a renal biopsy. Light microscopy and immunofluorescence showed that IgA was deposited in the mesangium. Under electron microscopy, zebra bodies with a lamellated structure were detected. A gene test showed a COL4A3 gene mutation. The patient was administered prednisone 40 mg once a day and dispersible tablets of mycophenolate mofetil 0.75 g two times a day. The patient’s condition showed a trend of remission. The findings in our case emphasize the importance of renal biopsy and gene detection in hereditary kidney disease, especially for Fabry disease and its rare coexistence with Alport syndrome.


2020 ◽  
Vol 7 (4) ◽  
pp. 367-393
Author(s):  
Jens Reimann ◽  
Cornelia Kornblum

There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered diseases of skeletal muscle. Our knowledge on cerebral affection in myopathies is expanding continuously due to a better understanding of the genetic background and underlying pathophysiological mechanisms. Intriguingly, there is a remarkable overlap of brain pathology in muscular diseases with pathomechanisms involved in neurodegenerative or neurodevelopmental disorders. A rapid progress in advanced neuroimaging techniques results in further detailed insight into structural and functional cerebral abnormalities. The spectrum of clinical manifestations is broad and includes movement disorders, neurovascular complications, paroxysmal neurological symptoms like migraine and epileptic seizures, but also behavioural abnormalities and cognitive dysfunction. Cerebral involvement implies a high socio-economic and personal burden in adult patients sometimes exceeding the everyday challenges associated with muscle weakness. It is especially important to clarify the nature and natural history of brain affection against the background of upcoming specific treatment regimen in hereditary myopathies that should address the brain as a secondary target. This review aims to highlight the character and extent of central nervous system involvement in patients with hereditary myopathies manifesting in adulthood, however also includes some childhood-onset diseases with brain abnormalities that transfer into adult neurological care.


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