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1.
Russian Journal of Cardiology ; 28(3):27-37, 2023.
Article in Russian | EMBASE | ID: covidwho-20239408

ABSTRACT

Aim. To determine the prevalence and show the features of the development of newly diagnosed heart failure (HF) in patients with dyspnea after a coronavirus disease 2019 (COVID-19). Material and methods. This clinical prospective observational study was conducted during 2020-2022. The study consecutively included 368 outpatients with shortness of breath, who applied to the clinic. Depending on the presence of prior COVID-19, the patients were divided into 2 groups: the first group consisted of 205 patients with shortness of breath after COVID-19, the second group - 163 patients without prior COVID-19. All patients underwent a clinical examination within 3 days after presentation with an assessment of outpatient records and other medical documents for the differential diagnosis of dyspnea. The severity of dyspnea was determined using the Modified Medical Research Council Dyspnoea Scale (mMRC). The diagnosis of HF was verified in accordance with the 2020 Russian Society of Cardiology guidelines and in some cases reclassified in accordance with the 2021European Society of Cardiology guidelines. For further analysis, 2 subgroups of patients with HF were identified depending on the presence and absence of prior COVID-19. The subgroup analysis excluded patients with acute heart failure, acute illness, and conditions requiring hospitalization and/or intensive care. Results. Among 368 patients who presented to the clinic with dyspnea during 2020-2022, 205 patients (55,7%) had COVID-19. The average period of treatment after COVID-19 was 3,5 [1,5;22,4] months. Patients after COVID-19 applied earlier after the onset of dyspnea, which is associated with higher mMRC score. The prevalence of HF among patients with shortness of breath after COVID-19 was significantly higher than in patients without this pathology in history, and amounted to 19,0% vs 9,8% (p=0,021). Prior COVID-19 increased the relative risk (RR) of HF in patients with shortness of breath by 1,7 times. RR for HF in systolic blood pressure >140 mm Hg increased by 1,9 times, while in diastolic blood pressure >90 mm Hg - by 1,9 times, with the development of a hypertensive crisis - by 28%, with a heart rate >80 bpm at rest - by 1,4 times, with the development of type 2 diabetes - by 31%, in the presence of pulmonary fibrosis - by 2,3 times. Patients with shortness of breath after COVID-19 had more severe HF, both according to clinical tests and according to the blood concentration of N-terminal pro-brain natriuretic peptide (NT-proBNP), mainly with the preserved ejection fraction (EF) with a higher prevalence of left atrial (LA) enlargement in combination with a decrease in right ventricular (RV) systolic function and its dilatation. In patients after COVID-19 in the presence of chronic kidney disease, the RR for HF increased by 4,5 times;in the presence of C-reactive protein >4 mg/l - by 1,6 times. Conclusion. Every fifth patient with shortness of breath 3,5 months after COVID-19 had more severe HF, both according to clinical tests and according to blood NT-proBNP concentration, mainly with preserved EF with a higher prevalence of LA increase in combination with a decrease in RV systolic function and its dilatation. The risk of HF is interrelated with the female sex and multiple comorbidities.Copyright © 2023, Silicea-Poligraf. All rights reserved.

2.
Creative Cardiology ; 16(3):237-277, 2022.
Article in Russian | EMBASE | ID: covidwho-2326847

ABSTRACT

As the COVID-19 pandemic began, various non-specific symptoms were detected among recovered patients, such as general weakness, fatigue and insomnia. Later different studies described an increase in the incidence of cardiovascular complications (myocardial infarction, stroke, arrhythmia, myocarditis, pulmonary embolism, heart failure, hypertensive crisis) after a COVID-19 infection, while the exact mechanisms remain unclear. This article depicts the most significant data currently available on the incidence of cardiovascular complications after a COVID-19 infection and also describes some of the possible pathogenetic mechanisms.Copyright © 2022 Authors. All rights reserved.

3.
J Endocr Soc ; 7(1): bvac176, 2022 Nov 17.
Article in English | MEDLINE | ID: covidwho-2321412

ABSTRACT

Pheochromocytomas are rare adrenal tumors that are often diagnosed in workup for endocrine causes of refractory hypertension, as an incidental imaging finding, or in patients with classic symptoms of headache, palpitations, and/or diaphoresis. We describe a case of pheochromocytoma presenting in a 63-year-old woman with spontaneous and multifocal subarachnoid and intracerebral hemorrhage without underlying vasculopathy. The patient previously had no documented episodes of hypertension and took no regular medications. She experienced sudden-onset severe headache and presented with hypertensive crisis. Cranial imaging showed bifrontal and right temporal convexal subarachnoid and intracerebral hemorrhage of unknown etiology. Cranial arterial catheterization showed no vascular malformation underlying the site of hemorrhage. Given concern for potential malignant etiology, cross-sectional body imaging was performed that revealed a 7-cm right adrenal heterogeneous mass. Biochemical workup demonstrated markedly elevated plasma metanephrine and normetanephrine levels, diagnostic of pheochromocytoma. She underwent α- and ß-blockade, and evaluation with a multidisciplinary team including repeat intracranial imaging to ensure resolution of the intracranial bleeding before definitive surgical management. She then underwent successful laparoscopic adrenalectomy. This case demonstrates that the workup of cryptogenic intracranial hemorrhage and hypertensive crisis should include evaluation for catecholamine-secreting tumors.

4.
Endokrinologya ; 27(4):261-265, 2022.
Article in English | EMBASE | ID: covidwho-2299606

ABSTRACT

Introduction: Pheochromocytoma is a rare neuroendocrine tumor that originates from the adrenal medulla, less commonly from extraadrenal chromaffin cells (paraganglioma). In about 90% of cases, the tumor produces abnormal amounts of catecholamines. Pheochromocytomas are usually benign, but in rare cases can be malignant. Typical clinical manifestations are the result of the haemodynamic and metabolic effects of catecholamines and usually include paroxysmal hypertension with the classic triad (headache, excessive sweating, palpitations), carbohydrate disorders, etc. Elevated levels of catecholamine metabolites (metanephrine and normetanephrine) tested in plasma or in 24-hour urine confirm the diagnosis. Surgical removal of the tumor is the only radical treatment. Follow-up of patients postoperatively should be lifelong and performed by a multidisciplinary team in a specialized center of expertise. Case report: A 36-year-old female patient referred to the clinic for decompensated diabetes mellitus. Detailed history revealed paroxysmal hypertension and the classic triad of pheochromocytoma. The diagnosis was confirmed by high urinary metanephrine levels and an abdominal CT scan, showing a tumor in the right adrenal gland with features typical of pheochromocytoma. Surgical removal of the pheochromocytoma and normalization of catecholamine levels led to normalization of blood pressure and reversal of diabetes mellitus. Conclusion(s): Pheochromocytoma is a difficult diagnosis in endocrinology practice as it can mimic many other diseases. Early detection and surgical removal of the tumor are crucial to avoid complications caused by elevated serum catecholamine levels.Copyright © 2022 Medical Information Center. All rights reserved.

5.
Endocr J ; 2022 Nov 15.
Article in English | MEDLINE | ID: covidwho-2284631

ABSTRACT

Pheochromocytoma is a rare but life-threatening condition due to catecholamine release induced by drug treatments such as ß-blockers or glucocorticoids. We present a case of hypertensive crisis due to pheochromocytoma, induced after the initiation of dexamethasone and landiolol during intensive care for severe coronavirus disease 2019 (COVID-19). Based on a detailed medical history review, the patient was previously diagnosed with primary aldosteronism by confirmatory tests, moreover, an abdominal computed tomography scan identified an adrenal tumor 2 years before current admission. We tentatively diagnosed the patient with pheochromocytoma and initiated α-blockers without conducting a catecholamine report, leading to stable hemodynamics. We present a successfully managed case of pheochromocytoma concomitant with COVID-19, which has become a global crisis.

6.
Journal of Hypertension ; 41:e186-e187, 2023.
Article in English | EMBASE | ID: covidwho-2239619

ABSTRACT

Introduction: In patients presented with hypertensive crises, a fundoscopic assessment is necessary because once hypertensive retinopathy is discovered, a hypertensive emergency is diagnosed, and intravenous antihypertensive medication is recommended. However, direct ophthalmoscopy is relatively underutilized, especially under the social distance regulation, which may result in delayed diagnosis and treatment. The novel method, namely, smartphone-based fundoscopy offers longer working distance and shorter doctor-patient contact time, however, there is limited data regarding its feasibility and effectiveness. Objective: We aimed to gather scientific evidence on the smartphone-based fundoscopy in terms of its effectiveness, accessibility, and trainability in detecting hypertensive retinopathy among hypertensive crisis patients in emergency room settings. Methods: A literature search was conducted on PubMed, Google Scholar, and the Cochrane Library for papers published from January 2010 to November 2021. Keywords including hypertensive crisis, hypertensive retinopathy, target organ damage, fundoscopic optic examination, direct ophthalmoscope, fundus images, smartphone fundoscopy, digital fundus camera, and COVID-19 were used. Full papers published in English and s of non-English publications were all reviewed. Results: Eight studies out of 34 fulfilled our search criteria. Five observational studies confirmed the effectiveness of smartphone-based fundoscopy in obtaining fundus images adequate for interpretation compared with those from commercially available fundus cameras. Also, smartphone-based fundoscopy offers time-saving properties as it allows fundus examination to be effectively completed within 74 seconds compared to 130 seconds with a traditional direct ophthalmoscope. Two studies investigated the accessibility of smartphonebased fundoscopy and discovered that fundus images can be obtained by using 20 diopter condensing lenses with the video mode of the smartphone camera, which can be easily provided even at a primary level hospital due to their low cost. Another study reviewed the trainability of the smartphone-based fundoscopy in 137 undergraduate medical students which concluded that 75% of these students can identify the optic nerve within 20-25 minutes of face-to-face demonstration. Conclusion: With a greater diagnostic capability, accessibility, and trainability of smartphone-based fundoscopy makes it a potentially game-changing technique for detecting hypertensive retinopathy in hypertensive emergency patients, especially during the current COVID-19 pandemic, in which longer working distance and shorter doctor-patient contact time are both required.

7.
Journal of the ASEAN Federation of Endocrine Societies ; 37:50-51, 2022.
Article in English | EMBASE | ID: covidwho-2006562

ABSTRACT

Introduction Phaeochromocytoma and paraganglioma (PPGL) are rare tumors with up to 40% associated with inherited germline mutations. SHDB mutation is associated with an increased risk of metastasis. Case A 36-year-old male presented with hypertensive emergency. He was diagnosed to have a bladder paraganglioma at age 32 when he presented with hypertensive crisis. Ga-68 DOTANOC PET/CT scan then showed a localized 4.7 x 5.3 cm bladder paraganglioma and he underwent complete surgical resection with resolution of his symptoms. Genetic testing done showed SHDB, deletion (exon 1), heterogenous pathogenic variant. He remained asymptomatic and was lost to follow-up due to COVID-19 until his recent admission. During this admission, he had labile blood pressure with symptoms of palpitations and lethargy. He was found to have a 4.3x elevated urine normetanephrine (1639 ug/day, N<374.7). Metanephrine and 3-methoxytyramine levels were normal. His blood pressure was controlled with phenoxybenzamine 20 mg TDS (1 mg/kg), telmisartan 40 mg OM and carvedilol 25 mg BD with improvement in his symptoms. Subsequent anatomical imaging with CT and functional imaging with Ga-68 DOTATATE showed a small recurrence at the bladder wall with metastatic lesions at the left sacral ala measuring 4.5 x 5.1 cm, and multiple lytic lesions over the spine, ribs and also the left acetabulum with the highest uptake of Ga-68 DOTATATE at the C2 vertebra (SUV max 93). He is now planned for peptide receptor radionuclide therapy (PRRT). SHDB mutation is associated with a higher risk of metastatic disease which has remained unexplained. Treatment for metastatic disease include surgical resection where possible, targeted therapy such as PRRT, meta-iodobenzylguanidine (MIBG) therapy, radiotherapy and also systemic therapy such as chemotherapy and tyrosine kinase inhibitors. Conclusion Patients with PPGL, especially those with SHDB mutation, require monitoring at regular intervals to screen and detect metastasis to reduce mortality and morbidity.

8.
Journal of Hypertension ; 40:e229, 2022.
Article in English | EMBASE | ID: covidwho-1937754

ABSTRACT

Objective: Characterize patients with hypertensive crisis and evaluate occurrences 30 days after the hypertensive event. Design and method: Cohort study was performed with 583 patients treated between August 2020 and July 2021, from an Emergency Unit in a Hospital specializes in cardiology in São Paulo, Brazil. Inclusion criteria: 18 years old, systolic pressure > 180 mmHg and/or diastolic pressure > 120 mmHg, have telephone contact. A consulting on the electronic medical record was made to identify the elegible patients, whom after were included on the REDCap platform, and 30 days of the hypertensive event, an interview by telephone was made to investigate cardiovascular events. Results: The sample characteristics were: women (53%), 66.24(13.89) years, white ethnicity (78.7%), married (50.5%), high school (27.9%), retired people (77.5%), average [(mean(SD)] monthly income R$2384.6 (R$3438). The mean(SD) systolic/diastolic blood pressure, respectively, in emergency department was 189.74(17.46)/99.28(19.89) mmHg. Hypertensive emergencies were 63.8%, urgencies 27.4% and 8.7% were not possible to classify. The prevalent symptoms in the emergency department were: chest pain (41.2%), dyspnea (34.3%), nausea (11.7%), dizziness (10,4%), radiating pain (10.1%). The most used treatments were: anticoagulant (35.1%), diuretic (28.1%), analgesic (25.3%), ACE inhibitor (23.8.7%). Regarding the performance of tests: 85.6% underwent laboratory tests, 71% electrocardiogram, 36.3% echocardiogram and 30.5% computed tomography. After being treated at the emergency department, 60.1% of patients were discharged, 35.8% hospitalized, 3.8% transferred to other hospitals and 0,3% died. Regarding comorbidities, 97.7% had hypertension, 68.7% high cholesterol, 48.4% diabetes, 34.1% acute myocardial infarction, 25.1% heart failure, 19.6% kidney disease and 12% stroke. Regarding outcomes 30 days after the hypertensive event, 1.4% had some type of stroke, being 85.7% ischemic and 14.3% hemorrhagic, 2.3% had acute infarction of the myocardium, and 2% cardiorespiratory arrest. Also, 14.5% returned to a health service for high blood pressure, and 23.1% for others reasons like angina, bradycardia, aortic aneurysm, covid-19, acute pulmonary edema, epigastric pain, dyspnea. Besides we identify that 4.7% died within 30 days. Conclusions: The findings indicate the need for tertiary systematization, through outpatient follow-up programs for people with hypertensive crisis in emergencies units.

9.
Journal of Hypertension ; 40:e180, 2022.
Article in English | EMBASE | ID: covidwho-1937742

ABSTRACT

Objective: To assess the severity of coronavirus infection in patients with hypertension, including resistantand refractory hypertension, and to assess the effect of taking ACE inhibitors and ARBs on the course of COVID-19. Design and method: We called 252 people with an established diagnosis of hypertension, included in the database from November 2018 to July 2021, in order to identify patients who have recently undergone COVID-19. Initially, the patients were divided into groups depending on the number of drugs taken and the achievement of target blood pressure levels. Results: 21 (8.3%) of 252 people had a coronavirus infection. 10 out of 21 patients (48%) noted blood pressure destabilization. 6 (60%) of these 10 initially belonged to the group of uncontrolled hypertension (4 of 6 had refractory hypertension, 2 of 6 had uncontrolled resistant hypertension), however, all of them noted worsening blood pressure control and increased frequency of hypertensive crises compared with the period before COVID-19. In 4 out of 9 patients with initially controlled hypertension, BP was destabilized with subsequent normalization of BP during the recovery period. COVID-19 lasted no more than 14 days in all patients and hypertensive crises was treated by taking short-acting drugs, including an ACE inhibitor (Captopril) and an imidazoline receptor agonist (Moxonidine). 7 (33.3%) and 12 (57.1%) of 21 patients continued to take ACE inhibitors and ARBs, respectively, during coronavirus infection. In 2 (9.6%) of 21 patients, the target BP values were achieved during monotherapy with calcium channel antagonists. All patients with Covid-19 had mild or moderate disease;hospitalization was not required in any of the cases. Conclusions: COVID-19 can destabilize blood pressure in patients with hypertension. Taking an ACE inhibitor / ARB does not worsen the course of coronavirus infection in patients with both controlled and uncontrolled hypertension.

10.
Journal of Hypertension ; 40:e179, 2022.
Article in English | EMBASE | ID: covidwho-1937738

ABSTRACT

Objective: COVID-19 pandemic has a rather negative effect on patients with cardiovascular pathology. AH is one of the main reasons for the remodeling process in AF patients and makes a significant contribution to the development of heart structural changes. The aim of this study is to identify the feature of AF occurrence and progression in patients with AH, who have undergone COVID-19. Design and method: In this study where enrolled 91 patients with AH and nonvalvular paroxysmal/persistent AF, who have undergone COVID-19 (first group). As a control group 109 patients with AH and AF, but without have undergone COVID- 19 were also examined (second group). The database consisting of indices that characterize the clinical, hemodynamic and structural-functional state of the heart, were analyzed by SPSS 13. Results: The obtained results showed that in the first group patients were signifi- cantly older than in the second group (mean age 71.6 ± 7.4 vs. 61.6 ± 6.4 years, p < 0.001). Resting heart rate was significantly higher in patients from first group in comparison with second group (86.6 ± 6.2 vs. 76.9 ± 7.8 beat/min, p < 0.01). In first group body mass index of patients was significantly more than in second group (33.9 ± 1.5 vs. 31.6 ± 1.8 kg/m2, p < 0.05). In the first group the prevalence of patients with uncontrolled AH were statistically significantly higher, than in the second group (54% vs. 23%, p < 0.001). In those patients the doses of antihypertensive medications taken were either increased or the antihypertensive treatment were revised. Moreover, in the first group the frequency of hypertensive crises was nearly twofold higher (31% vs. 17%, p < 0.001). It was revealed that the left atrium diameter in patients of the first group was significantly greater than in the second (44.3 ± 1.4 vs.41.2 ± 1.1 mm, p < 0.05);but systolic and diastolic dysfunction did not significantly differ in both groups. Conclusions: The obtained results indicate that in patients with AH who have undergone COVID-19, the onset of AF has some features, namely;uncontrolled AH, frequent hypertensive crises, tachycardia, overweight and older age. As well as left atrium more large dilation compared with second group that did not undergo a viral infection.

11.
Russian Journal of Cardiology ; 27(3):7481, 2022.
Article in Russian | EMBASE | ID: covidwho-1897227

ABSTRACT

Aim. To carry out a comparative assessment of the clinical status and behavioral risk factors in patients with cardiovascular (CVD) and other noncommunicable diseases (NCDs) in Russia and neighboring countries during quarantine and selfisolation in the context of coronavirus disease 2019 (COVID-19) pandemic. Material and methods. The study involved patients from Russia, Azerbaijan, Kazakhstan, Lithuania, Kyrgyzstan. A total of 351 men and women aged 30-69 years with one or more NCDs were included, including hypertension (HTN), coronary artery disease with or without myocardial infarction, type 2 diabetes, chronic obstructive pulmonary disease/asthma, and cancer that were in quarantine self-isolation. To assess the clinical status and risk factors, patients underwent a questionnaire and examination. The changes in health status was assessed using the EQ-5D questionnaire. Results. During self-isolation and quarantine, 40% of patients noted a decrease and limitation of physical activity. An increase in food frequency and amount was registered in 35% of individuals. During quarantine, every third patient with HTN had hypertensive crises, and every fifth increased the doses of the drugs taken. In the examined cohort, exertional angina (30%) took second place among NCDs. In the group of Azerbaijan patients, every second had exertional angina, while in the Russian cohort — 33%, and in the Lithuanian group — every fourth patient. In general, health status deterioration among people with angina was noted in 6% of cases. In the examined group, type 2 diabetes was detected in 25% of cases. During quarantine, changes in hypoglycemic therapy were carried out in an average of 34% of patients. COVID-19 was registered in 22% of patients in the examined cohort. The largest number was found in the group from Kazakhstan — 57%, while the second place was taken by the Azerbaijan group — 40%. General condition deterioration was detected in 55% of cases in groups from Azerbaijan and Kazakhstan. In Russia, this was reported by 28,8% of patients, while in the group from Lithuania, every fourth patient noted a worsening of the health status. The lowest deterioration was registered in the Kyrgyzstan group (14%). Conclusion. During quarantine and self-isolation among patients with NCDs, a decrease in physical activity, an increase in food consumption and smoking was noted. There was health status deterioration in patients with various NCDs, primarily with CVDs, which required therapy changes. Taken together, this was reflected in general condition worsening in patients with chronic NCDs. It is obvious that the development of comprehensive preventive measures in conditions of selfisolation and quarantine is required.

12.
Journal of the American College of Cardiology ; 79(15):S128, 2022.
Article in English | EMBASE | ID: covidwho-1796604

ABSTRACT

Clinical Information Patient Initials or Identifier Number: BGS 22/0371940 Relevant Clinical History and Physical Exam: We present a case of an 80-year-old man with coronary risk factors diabetes, hypertension, dyslipidemia and familiarity without previous history of cardiac disease and known nephrolithiasis and urethral stenosis. He came to our observation during the second COVID wave pandemic within the emergency department for chest discomfort during hypertensive crisis and evidence of not known complete left bundle branch block and minimal elevation of TnI-HS levels. Relevant Test Results Prior to Catheterization: Echocardiography demonstrated septal dyskinesia with ejection fraction of 53%, no relevant valvular disease. The patient was hospitalized with the diagnosis NSTEMI for early coronary angiography within 24 hours and therapy according to the ESC 2020 NSTEMI Guidelines was initiated: acetylsalicylic acid 100 mg SID (no P2Y12 receptor inhibitors in unknown coronary anatomy), low molecular weight heparin atorvastatin 80 mg, ace-inhibitor, beta-blocker, rapid insulin and adequate hydration. Relevant Catheterization Findings: Angiography shoed critical mid RCA and ostial, LM (Medina 1.1.1) mid LAD and LCx stenosis (Fig.1). The patients definitively refused surgical revascularization choosing percutaneous one. At this point the mid (Fig.2.a.) and ostial RCA (Fig.2.b.) stenosis were fixed with DES with optimal angiographic and IVUS (Fig.2.c-d.) results. The left coronary system was studied with IVUS demonstrating significant LM/LAD/LCx stenosis and presence of circumferential calcification (Fig.3.a-b). [Formula presented] [Formula presented] Interventional Management Procedural Step: As a first step we performed rotational atherectomy on the axis LM-LAD (Fig. 3.c.) and LM-LCx (Fig. 3.d.) with 1,75 mm burr and after rewiring LAD (Renato) and LCx (Sion Blu) we repeated IVUS evaluation. Predilatation with non-compliant balloons of mid LAD and LCx and LM-LAD and LM-LCx (Fig.4.) was performed and then a bifurcation dedicated stent BIOSS was places on the axis LM-LCx (Fig. 5.a-b). The procedure continued with placing of a second DES in the mid LCx (Fig.5.c-d) and third DES in the mid LAD (Fig.6.a-b.). Then we placed a fourth DES (Fig.6.c-d.) in the axis LM-LAD (culottes with the just placed BIOSS on LM-LCx). Procedure was ended with DOT, POT, kissing balloon and final POT. Optimal result with IVUS (Fig.7.a-d) and angiography (Fig.7.e-f.) was achieved. The patient was discharged after 48 hours on DAPT and clinical follow-up was scheduled for 1st and 3rd month and angiography control after 6 months. [Formula presented] [Formula presented] [Formula presented] Conclusions: Adopting the common rules and guidelines in the everyday practice as in our case with NSTEMI patient rule-in/rule-out, early coronary angiography in less than 24 hours from admission, all vessels revascularization during index hospitalization, imaging in the left main treatment, stent like preparation of vessels before stenting and in some cases using of dedicated bifurcation stent can increase the success rate and reduce the complication rate.

13.
Molecular Genetics and Metabolism ; 132:S25, 2021.
Article in English | EMBASE | ID: covidwho-1733582

ABSTRACT

Introduction: Mitochondria are organelles that fulfill the energy requirements for cells, which is essential for their survival and function. Mitochondria function is dependent on both mitochondrial (mtDNA) and nuclear genes (Tucker, 2010). SARS2 is a nuclear gene that encodes the mitochondria seryl-tRNA synthetase precursor. It catalyzes the attachment of serine to tRNA and in the biosynthesis of selenocysteinyl-tRNA in the mitochondria. Pathogenic variation in the gene is associated with HUPRA syndrome, which is characterized by hyperuricemia, pulmonary hypertension, renal failure, and metabolic alkalosis (Rivera, 2013). It is important to recognize this autosomal recessive condition as it presents in infancy, can lead to death, and has recurrence implications for carrier couples. Case Description: We present a term neonate male who experienced tachypnea at birth requiring respiratory support;echocardiogram concerning for pulmonary hypertension and right ventricular hypertrophy requiring ionized nitric oxide. During his hospitalization, he developed lactic acidosis (consistently 10–12 mmol/L, reaching 26 mmol/L), seizures, and his newborn screen results flagged as abnormal for severe combined immunodeficiency (SCID) due to low Tcell count. He was transferred to a tertiary medical center due to continued elevated lactate levels. During admission to the tertiary medical center, he was found to have hyperkalemia, elevated BUN/Cr, and elevated lactate levels. Additionally, pre-prandial and postprandial lactate and pyruvate levels were obtained. It was found that hyperlactatemia was persistent and not related to feedings. The patient developed a presumed pulmonary hypertensive crisis at 8 weeks of age, and in the setting of chronic intrinsic renal dysfunction and chronic lactic acidosis, the family elected to transfer him to the home hospital for compassionate extubation where he died. Notable genetics evaluation findings included urine organic acid results showing markedly and persistently elevated levels of fumaric acid and lactic acid concerning for fumarase deficiency or a mitochondrial oxidative phosphorylation disorder and plasma amino acids showing elevated alanine and proline indicative of lactic acidosis. An array CGH showed 2% areas of homozygosity, consistent with known shared parental ancestry. The results of combined mitochondrial genome and Mitochondrial Nuclear Gene Panel was ordered. The results revealed two SARS2 variants: (c.988C>T,p.R330W and c.173T>A, p.L58Q). Both variants were classified as variants of uncertain significance (VUS) based on ACMG-AMP criteria (Richards, 2015) and parental testing to determine phase is ongoing. Discussion: Pathogenic variants in SARS2 lead to dysfunction of seryltRNA synthetase and is associated with HUPRA syndrome. Our patient harbors two variants in SARS2 classified as VUSes but based on clinical presentation the phenotype is consistent with HUPRA syndrome. The condition was first described in 2011 (Belostotsky, 2011) with 6 reported patients from 3 families (Belostotsky, 2011 and Rivera, 2013). Further study into pathogenic mechanism is important as no treatment exists, and the disease leads to death of the infants affected. Although the disease is very rare, it must be considered in infants with who present with symptoms of failure to thrive, hyperuricemia, pulmonary hypertension, renal failure, and metabolic alkalosis.

15.
Russian Journal of Cardiology ; 26(9):15-21, 2021.
Article in Russian | EMBASE | ID: covidwho-1648425

ABSTRACT

Aim. To assess the behavioral risk factors and the clinical course of cardiovascular diseases (CVDs) and other noncommunicable diseases (NCDs) during quarantine in various regions of Russia. Material and methods. This multicenter cohort cross-sectional study included 205 men and women from 6 Russian cities. Further, 4 of them (Saransk, Nizhny Novgorod, Penza, Ulyanovsk) were combined into one group — the Volga region. The study included men and women aged 30-69 years with one or more NCDs (hypertension, coronary artery disease with or without myocardial infarction, type 2 diabetes, chronic obstructive pulmonary disease/asthma and cancer in patients receiving chemotherapy and/or radiation therapy) who were self-isolated during coronavirus disease 2019 (COVID-19) pandemic. For all patients, a questionnaire was used, which included socio-demographic parameters, behavioral risk factors, status of the underlying disease, incidence of COVID-19 and its complications. Self-assessment of the state of health was carried out using the European Quality of Life Questionnaire. Results. In every third Muscovite, the intensity of physical activity decreased, and in the groups of patients from Omsk and the Volga region, it was 45% and 43%, respectively. An increase in meal frequency and an impairment of eating habits in Moscow and Omsk was noted in 18,2% and 18,7% of participants, while in Volga region subjects, these parameters were 2 times higher (42,4%). At the same time, no significant changes of alcohol consumption and smoking was revealed in the cohorts. Hypertensive crises during a pandemic were noted in all three subgroups, but more of them were recorded in the Volga region — in every third patient (p<0,05 compared to Moscow), in the Omsk group — in every fourth patient, and among Muscovites — no more than 5%. Clinical deterioration in patients with angina was noted in 15% of cases, while the smallest number was noted in Omsk subjects (5,3%), three times less than in other subgroups. Changes in intensity and regimen of hypoglycemic therapy were noted in patients from Omsk, while 30% of them (p<0,05 compared with the Volga region) increased the doses of medications taken. Chronic obstructive pulmonary disease was registered in the group with the largest number of Volga region patients — 14,1% (p<0,05 compared to Omsk), while 17% of patients in this group increased the dose of drugs. Any cancer was recorded in 13,6% of Muscovites, while in the other two groups — about 5%. The largest number of patients from the Volga region noted a health decline over the past year (30,8%), while every fifth patient from Omsk (19,6%) and 13,6% of Muscovites reported health changes. Conclusion. During quarantine and self-isolation, changes in dietary habits and physical activity decline were noted among patients with NCDs, while alcohol consumption and smoking remained practically unchanged. The change in clinical status was characterized by an increase in hypertensive crisis incidence, an increase in doses of antihypertensive and hypoglycemic medication. Depending on the region, the health decline was noted by 13-31% of patients with NCDs.

16.
Hipertens Riesgo Vasc ; 37(2): 82-85, 2020.
Article in Spanish | MEDLINE | ID: covidwho-1207028

ABSTRACT

Malignant arterial hypertension is still present in current clinical care despite the fact that for more than three decades we have had a wide range of antihypertensive drugs to control high blood pressure. It is essential to know how to detect it in time due to its high risk to life, with poor short-term prognosis if not treated properly. It may present with nonspecific, but potentially serious, clinical symptoms or manifest clinically as a hypertensive emergency accompanied by hypertensive encephalopathy and multi-organ failure. We present a case of a 49-year-old woman, attended in our hospital who had an initial hypertension of 223/170mmHg accompanied by multi-organ failure, who progressed satisfactorily with antihypertensive treatment.


Subject(s)
Antihypertensive Agents/administration & dosage , Hypertension, Malignant/physiopathology , Hypertensive Encephalopathy/diagnosis , Ventricular Dysfunction, Left/physiopathology , Female , Humans , Hypertension, Malignant/drug therapy , Middle Aged , COVID-19 Drug Treatment
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