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1.
Rom J Intern Med ; 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38641909

RESUMO

INTRODUCTION: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection represented a disruptive pathology that emerged in late 2019 with profound implications ranging from individual health to health systems and world economy. Our study aimed to evaluate clinical, biochemical and computerized tomography (CT) parameters values in determining the severity of pulmonary embolism (PE) associated with COVID-19. METHODS: We performed an observational cohort study evaluating demographic, clinical, biochemical, coagulation markers, as well as CT imaging parameters. RESULTS: In our study on 186 patients with COVID-19, we found that 31 patients (16,66%) had pulmonary embolism. Significant correlations for the patients with PE were detected in C-reactive protein, lactate dehydrogenase, serum ferritin, IL-6, serum myoglobin, NT-proBNP, D-dimers, serum proteins, transaminases as well as white cell blood counts. Patients with pulmonary embolism had a more severe lung involvement, with thrombi distribution mainly involving the lower lobes. CONCLUSION: Early identification of PE is an important step for timely and efficient treatment in the intensive care management of COVID-19 patients. Our study showed that high plasmatic values of lactate dehydrogenase, ferritin, IL-6, white blood cells and D-dimers and low proteins serum levels are strongly linked with COVID-19-associated pulmonary embolism.

2.
Adv Neurobiol ; 36: 365-384, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38468042

RESUMO

Neurodegenerative diseases are defined by progressive nervous system dysfunction and death of neurons. The abnormal conformation and assembly of proteins is suggested to be the most probable cause for many of these neurodegenerative disorders, leading to the accumulation of abnormally aggregated proteins, for example, amyloid ß (Aß) (Alzheimer's disease and vascular dementia), tau protein (Alzheimer's disease and frontotemporal lobar degeneration), α-synuclein (Parkinson's disease and Lewy body dementia), polyglutamine expansion diseases (Huntington disease), or prion proteins (Creutzfeldt-Jakob disease). An aberrant gain-of-function mechanism toward excessive intraparenchymal accumulation thus represents a common pathogenic denominator in all these proteinopathies. Moreover, depending upon the predominant brain area involvement, these different neurodegenerative diseases lead to either movement disorders or dementia syndromes, although the underlying mechanism(s) can sometimes be very similar, and on other occasions, clinically similar syndromes can have quite distinct pathologies. Non-Euclidean image analysis approaches such as fractal dimension (FD) analysis have been applied extensively in quantifying highly variable morphopathological patterns, as well as many other connected biological processes; however, their application to understand and link abnormal proteinaceous depositions to other clinical and pathological features composing these syndromes is yet to be clarified. Thus, this short review aims to present the most important applications of FD in investigating the clinical-pathological spectrum of neurodegenerative diseases.


Assuntos
Doença de Alzheimer , Doença por Corpos de Lewy , Doenças Neurodegenerativas , Humanos , Doenças Neurodegenerativas/metabolismo , Doença de Alzheimer/patologia , Peptídeos beta-Amiloides , Fractais , Doença por Corpos de Lewy/patologia
3.
Biomedicines ; 12(3)2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38540252

RESUMO

SARS-CoV-2 infection is a significant health concern that needs to be addressed not only during the initial phase of infection but also after hospitalization. This is the consequence of the various pathologies associated with long COVID-19, which are still being studied and researched. Lung fibrosis is an important complication after COVID-19, found in up to 71% of patients after discharge. Our research is based on scientific articles indexed in PubMed; in the selection process, we used the following keywords: "lung fibrosis", "fibrosis mediators", "fibrosis predictors", "COVID-19", "SARS-CoV-2 infection", and "long COVID-19". In this narrative review, we aimed to discuss the current understanding of the mechanisms of initiation and progression of post-COVID-19 lung fibrosis (PC-19-LF) and the risk factors for its occurrence. The pathogenesis of pulmonary fibrosis involves various mediators such as TGF-ß, legumain, osteopontin, IL-4, IL-6, IL-13, IL-17, TNF-α, Gal-1, Gal-3, PDGF, and FGFR-1. The key cellular effectors involved in COVID-19 lung fibrosis are macrophages, epithelial alveolar cells, neutrophils, and fibroblasts. The main fibrosis pathways in SARS-CoV-2 infection include hypoxemia-induced fibrosis, macrophage-induced fibrosis, and viral-fibroblast interaction-induced fibrosis.

4.
Germs ; 13(2): 121-129, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38144251

RESUMO

Introduction: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is a viral disease with primary pulmonary involvement and systemic impact. This article aims to assess the importance of clinical, biological, demographic and radioimaging parameters in COVID-19 patients in characterizing the incidence and severity of the hepatobiliary involvement. Methods: We performed an observational cohort study on 132 consecutive patients, evaluating their demographics, hospitalization period, peripheral oxygen saturation (SpO2) in the ambient air, as well as biochemical markers of hepatobiliary involvement: aspartate aminotransferase (AST), alanine aminotransferase (ALT), total bilirubin (TB), direct bilirubin (DB), gamma-glutamyl transferase (GGT), serum albumin, total serum proteins, D-dimers; coagulation tests such as prothrombin time (PT), activated partial thromboplastin time (aPTT), and international normalized ratio (INR); inflammatory markers: fibrinogen, serum ferritin, C-reactive protein (CRP), interleukin-6 (IL-6), and tumor necrosis alpha (TNF-α). Hepatobiliary involvement was further stratified by type of affection pattern: hepatocytolysis, cholestasis or mixed type. All patients received a computerized tomography (CT) chest scan in the first or second day of hospital admission. Results: We observed lower SaO2 and longer hospitalization days in patients with hepatobiliary involvement, as well as longer coagulation times (PT and INR), lower serum albumin and higher serum ferritin (p<0.05). No significant correlations have been found between the degree or type of pattern of lung involvement as seen on CT scans performed and biochemical liver changes. Conclusions: Hepatobiliary involvement occurred in 72% of patients in the study group, associated with longer hospitalization period, prolonged coagulation parameters, lower serum albumin levels, raised serum ferritin and CRP levels. Cholestatic and mixed types of injury were associated with higher ferritin levels, while mixed type alone presented higher D-dimers levels compared with the cholestatic or hepatocytolysis groups. No significant correlation was found between lung involvement by CT evaluation and hepatobiliary involvement.

5.
Medicina (Kaunas) ; 59(7)2023 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-37512056

RESUMO

Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular atrophy. Materials and Methods: We analyzed the spinal muscular atrophy types, the number of copies of the SMN2 gene, and the progression of the motor status using specific motor function scales in a group of 38 patients with spinal muscular atrophy types 1, 2, and 3. Results: We found a significant inverse correlation between pNFH levels and patient age, progress on functional motor scales, and nusinersen administration. Our results also revealed that the neurofilament levels in the cerebrospinal fluid were higher in patients with 2 SMN2 copies than those with more than 2 copies, although the association was not statistically significant due to the abnormal distribution of the values. Conclusions: We identified several predictors of favorable evolution under nusinersen treatment, including spinal muscular atrophy type 1, children aged ≤ 30 months, and the presence of only 2 copies of SMN2. Our study provides important insights into the use of pNFH as a biomarker to monitor disease progression and responses to treatment in patients with spinal muscular atrophy.


Assuntos
Atrofia Muscular Espinal , Atrofias Musculares Espinais da Infância , Criança , Humanos , Estudos Retrospectivos , Atrofia Muscular Espinal/tratamento farmacológico , Atrofia Muscular Espinal/induzido quimicamente , Oligonucleotídeos/uso terapêutico , Atrofias Musculares Espinais da Infância/tratamento farmacológico
6.
J Clin Med ; 12(2)2023 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-36675530

RESUMO

Sepsis is a major cause of morbidity and mortality worldwide. Sepsis-associated coagulation disorders are involved in the pathogenesis of multiorgan failure and lead to a subsequently worsening prognosis. Alongside the global impact of the COVID-19 pandemic, a great number of research papers have focused on SARS-CoV-2 pathogenesis and treatment. Significant progress has been made in this regard and coagulation disturbances were once again found to underlie some of the most serious adverse outcomes of SARS-CoV-2 infection, such as acute lung injury and multiorgan dysfunction. In the attempt of untangling the mechanisms behind COVID-19-associated coagulopathy (CAC), a series of similarities with sepsis-induced coagulopathy (SIC) became apparent. Whether they are, in fact, the same disease has not been established yet. The clinical picture of CAC shows the unique feature of an initial phase of intravascular coagulation confined to the respiratory system. Only later on, patients can develop a clinically significant form of systemic coagulopathy, possibly with a consumptive pattern, but, unlike SIC, it is not a key feature. Deepening our understanding of CAC pathogenesis has to remain a major goal for the research community, in order to design and validate accurate definitions and classification criteria.

7.
J Pers Med ; 12(12)2022 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-36556267

RESUMO

In most dermatological pathologies, the phenomena observed on the skin are a reflection of internal disorders. In patients with associated acral involvement on the dorsal sides of the hands, this "vitiligo phenotype" may lead to the investigation of certain associated pathologies that sometimes have no obvious clinical impact. To assess the link between skin depigmentation and autoimmune pathologies, we conducted a systematic review involving article selection from the PubMed database. Patients with coexisting thyroid pathologies were found to have a predisposition for developing acral vitiligo and depigmentation of the wrists, and autoimmune thyroid pathologies appeared to be the only coexisting autoimmune or inflammatory diseases in vitiligo patients to show a pattern of distribution. The association of concomitant thyroid dysfunction with depigmentation of the hands was found to be so strong that the absence of depigmented macules on the hands may exclude the coexistence of an autoimmune thyroid pathology. Although the frequency of acral involvement in patients with vitiligo and autoimmune pathologies is higher, the mechanism by which thyroid dysfunction influences this distribution pattern remains incompletely elucidated and requires future studies.

8.
Medicina (Kaunas) ; 58(12)2022 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-36556915

RESUMO

Background and Objectives: SARS-CoV-2 infection is frequently associated with pneumonia but has a broad tissue tropism also leading to systemic complications (hematologic, gastro-intestinal, cardiac, neurologic, etc.). In this study, we aim to evaluate the impact of COVID-19 infection on the liver and to identify the risk factors/predictors for liver injury at admission to the hospital. Materials and Methods: We performed a retrospective cohort study on 249 patients, divided into two Group A (157 patients with liver involvement) and Group B (92 patients without liver involvement). We recorded demographic and lifestyle parameters, anthropometric parameters, comorbidities, clinical parameters, inflammation markers, complete blood count, coagulation, and biochemical parameters. Lung parenchyma, liver dimensions, and morphology were evaluated by computer tomography (CT) scans. Results: Patients with liver involvement had higher heart and respiratory rates, lower oxygen saturation (SO2), and necessitated higher oxygen flow at admittance. We found higher serum levels of C-reactive protein, fibrinogen, ferritin, creatine kinase, lactate dehydrogenase (LDH), serum triglycerides, and lower values for serum albumin in Group A patients. The patients with liver involvement presented more extensive lung injury with higher percentages of alveolar, mixed, and interstitial lesions, an increase in liver dimensions, and lower density ranges for the liver parenchyma. The patients presented hepatocytolytic involvement in 26 cases (10.4% from the entire study population), cholestatic involvement in 63 cases (37.7% from the entire study population), and mixed liver involvement in 68 cases (37.7% from the entire study population). Conclusions: Liver involvement in COVID-19 patients is frequent, usually mild, and occurs mostly in male patients over 50 years old. Cholestatic and mixed liver injuries are more frequent than hepatocytolytic injuries. The severity of lung injury evaluated by CT scan, increased values of inflammatory markers, LDH, and low values of SO2 can be considered risk factors/predictors for liver injury at admission to the hospital.


Assuntos
COVID-19 , Lesão Pulmonar , Humanos , Masculino , Pessoa de Meia-Idade , COVID-19/complicações , SARS-CoV-2 , Estudos Retrospectivos , Fígado
9.
Medicina (Kaunas) ; 58(10)2022 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-36295594

RESUMO

Background and Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection represents a pathology with primary pulmonary involvement and multisystemic impact, including cardiovascular injuries. The present study aimed to assess the value of clinical, biochemical, and imaging factors in COVID-19 patients in determining the severity of myocardial involvement, and to create a model that can be used toevaluate myocardial injury risk based on clinical, biochemical and imaging factors. Materials and Methods: We performed an observational cohort study on 150 consecutive patients, evaluating their age, sex, hospitalization period, peripheral oxygen saturation (SpO2) in ambient air, systolic and diastolic blood pressure, heart rate, respiratory rate, biochemical markers of cardiac dysfunction (TnI, and NT-proBNP), inflammatory markers (C reactive protein (CRP), fibrinogen, serum ferritin, interleukin-6 (IL-6), tumor necrosis factor alpha (TNFα)), D-dimers, lactate dehydrogenase (LDH), myoglobin and radio-imaging parameters. All patients underwent computerized tomography chest scan in the first two days following admission. Results: We observed elevated heart and respiratory rates, higher systolic blood pressure, and a lower diastolic blood pressure in the patients with cardiac injury; significant differences between groups were registered in TnI, NT-proBNP, LDH, CRP, and D-dimers. For the radiological parameters, we found proportional correlations with the myocardial injury for the severity of lung disease, number of pulmonary segments with alveolar consolidation, number of pulmonary lobes with pneumonia, crazy paving pattern, type of lung involvement, the extent of fibroatelectatic lesions and the mediastinal adenopathies. Conclusions: Myocardial injury occurred in 12% of patients in the study group. Ground glass opacities, interstitial interlobular septal thickening (crazy paving pattern), fibroatelectasic lesions and alveolar consolidations on CT scan were correlated with myocardial injury. Routine lung sectional imaging along with non-specific biomarkers (LDH, D-dimers, and CRP) can be further valuable in the characterization of the disease burden, thus impacting patient care.


Assuntos
COVID-19 , Humanos , COVID-19/complicações , SARS-CoV-2 , Interleucina-6 , Fator de Necrose Tumoral alfa , Proteína C-Reativa , Mioglobina , Pulmão/patologia , Biomarcadores , Lactato Desidrogenases , Ferritinas , Estudos Retrospectivos
10.
Pharmaceutics ; 14(10)2022 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-36297509

RESUMO

In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clinical evolution and electrophysiological data after 2 years of nusinersen treatment. We assessed distal compound motor action potential (CMAP) on the ulnar nerve and motor abilities in 34 SMA patients, aged between 1 and 16 years old, under nusinersen treatment, using specific motor scales for types 1, 2 and 3. The evaluations were performed at treatment initiation and 26 months later. There were registered increased values for CMAP amplitudes after 2 years of nusinersen, significantly correlated with motor function evolution in SMA type 1 patients (p < 0.005, r = 0.667). In total, 45% of non-sitters became sitters and 25% of sitters became walkers. For SMA types 1 and 2, the age at the treatment initialization is highly significant (p < 0.0001) and correlated with treatment yield. A strong negative correlation (r = −0.633) was observed for SMA type 1 and a very strong negative correlation (r = −0.813) for SMA type 2. In treated SMA cases, the distal amplitude of the CMAP and motor functional scales are important prognostic factors, and early diagnosis and treatment are essential for a better outcome.

11.
Med Pharm Rep ; 95(3): 229-235, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36060503

RESUMO

Cutaneous melanoma is the most aggressive form of skin cancer and its incidence is unfortunately increasing. In the last decades, a progressive increase of new cases of diagnosed thin melanoma has been noted. This may be due to earlier detection, better surveillance, improved diagnostic criteria or increased exposure to sunlight. Despite the fact that Breslow tumor thickness has the strongest proven prognostic significance, there are still thin melanomas that metastasize and thick melanomas with favorable evolution. Therefore, the identification of strong predictive factors for survival is mandatory, particularly for patients with thin melanoma.

12.
Medicina (Kaunas) ; 58(8)2022 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-36013560

RESUMO

Background and Objectives: SARS-CoV-2 has an extensive tissue tropism due to its ability to attach to the surfaces of cells through different receptors, leading to systemic complications. In this article, we aim to present the prevalence of pericardial effusions in patients with severe COVID-19, to identify the risk factors/predictors for pericardial involvement, and to evaluate its impact on overall mortality. Materials and Methods: We enrolled 100 patients with severe COVID-19 in our observational cohort study and divided them in two groups: Group A (27 patients with pericardial effusion) and Group B (73 patients without pericardial effusion). We recorded demographic and lifestyle parameters, anthropometric parameters, clinical parameters, inflammation markers, respiratory function parameters, complete blood count, coagulation parameters, and biochemical serum parameters. All patients were evaluated by computer tomography scans within 48 h of admission. Results: The median age was 61 years in both groups and the male/female ratio was 3.5 vs. 2.8 in Group A vs. Group B. We identified mild pericardial effusion (3-4 mm) in 62.9% patients and moderate pericardial effusion (5-9 mm) in 37.1% patients, with a median value of 4 [3;6] mm. The patients with pericardial effusion presented with higher percentages of obesity, type-2 diabetes mellitus, arterial hypertension, and congestive heart failure, without statistical significance. Increased values in cardiac enzymes (myoglobin, CK, CK-MB) and LDH were statistically associated with pericardial effusion. The overall mortality among the participants of the study was 24% (24 patients), 33.3% in Group A and 20.8% in Group B. Conclusions: Pericardial effusion has a high prevalence (27%) among patients with severe forms of COVID-19 and was associated with higher mortality. Pericardial effusion in our study was not associated with the presence of comorbidities or the extent of lung involvement. Overall mortality was 60% higher in patients with pericardial effusion.


Assuntos
COVID-19 , Derrame Pericárdico , COVID-19/complicações , Comorbidade , Feminino , Humanos , Inflamação/complicações , Masculino , Pessoa de Meia-Idade , Derrame Pericárdico/epidemiologia , Derrame Pericárdico/etiologia , SARS-CoV-2
13.
Diagnostics (Basel) ; 12(8)2022 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-36010377

RESUMO

Background and Objectives: Pulmonary fibrosis represents a stage of normal physiologic response to inflammatory aggression, mostly self-limiting and reversible; however, numerous patients treated for SARS-CoV-2 pneumonia present after release from hospital residual lung fibrosis. In this article, we aim to present an optimization method for evaluating pulmonary fibrosis by quantitative analysis, to identify the risk factors/predictors for pulmonary fibrosis in patients with SARS-CoV-2 infection, and to characterize the impact of pulmonary fibrosis on the symptomatology of patients after release from the hospital. Materials and Methods: We performed a prospective observational study on 100 patients with severe forms of pneumonia, with a control group of 61 non-COVID normal patients. Results: We found persistent interstitial changes consistent with fibrotic changes in 69% of patients. The risk of fibrosis was proportional to the values of erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and lactate dehydrogenase (LDH), and to the duration of hospitalization. The imaging parameters correlated with increased risk for interstitial fibrosis were the number of affected pulmonary lobes and the percent of interstitial pulmonary fibrosis. Conclusions: The main risk factors for pulmonary fibrosis post-COVID-19 identified in our study are increased ESR, CRP, LDH, duration of hospitalization and the severity of pneumonia.

14.
Medicina (Kaunas) ; 58(7)2022 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-35888664

RESUMO

Background and Objectives: The severe forms of SARS-CoV-2 pneumonia are associated with acute hypoxic respiratory failure and high mortality rates, raising significant challenges for the medical community. The objective of this paper is to present the importance of early quantitative evaluation of radiological changes in SARS-CoV-2 pneumonia, including an alternative way to evaluate lung involvement using normal density clusters. Based on these elements we have developed a more accurate new predictive score which includes quantitative radiological parameters. The current evolution models used in the evaluation of severe cases of COVID-19 only include qualitative or semi-quantitative evaluations of pulmonary lesions which lead to a less accurate prognosis and assessment of pulmonary involvement. Materials and Methods: We performed a retrospective observational cohort study that included 100 adult patients admitted with confirmed severe COVID-19. The patients were divided into two groups: group A (76 survivors) and group B (24 non-survivors). All patients were evaluated by CT scan upon admission in to the hospital. Results: We found a low percentage of normal lung densities, PaO2/FiO2 ratio, lymphocytes, platelets, hemoglobin and serum albumin associated with higher mortality; a high percentage of interstitial lesions, oxygen flow, FiO2, Neutrophils/lymphocytes ratio, lactate dehydrogenase, creatine kinase MB, myoglobin, and serum creatinine were also associated with higher mortality. The most accurate regression model included the predictors of age, lymphocytes, PaO2/FiO2 ratio, percent of lung involvement, lactate dehydrogenase, serum albumin, D-dimers, oxygen flow, and myoglobin. Based on these parameters we developed a new score (COV-Score). Conclusions: Quantitative assessment of lung lesions improves the prediction algorithms compared to the semi-quantitative parameters. The cluster evaluation algorithm increases the non-survivor and overall prediction accuracy.COV-Score represents a viable alternative to current prediction scores, demonstrating improved sensitivity and specificity in predicting mortality at the time of admission.


Assuntos
COVID-19 , Pneumonia , Síndrome do Desconforto Respiratório , Adulto , Humanos , L-Lactato Desidrogenase , Mioglobina , Oxigênio , Estudos Retrospectivos , SARS-CoV-2 , Albumina Sérica
15.
Exp Ther Med ; 23(6): 383, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35495612

RESUMO

Non-melanoma skin cancer (NMSC) is the most common type of neoplasm affecting Caucasian individuals, with squamous-cell carcinoma (cSCC) being the second most common type of NMSC after basal-cell carcinoma. The immunohistochemical study of cSCC is of particular importance, especially for the diagnosis of its rare forms, for which accurate and early diagnosis is crucial for survival. In the present review of the literature, the potentially significant value of immunohistochemical markers were highlighted to more accurately assess the biological behaviour, the prognosis of cSCC and to optimize case management. The immunohistochemical markers were classified from a pathophysiological point of view in order to present the mechanism by which carcinogenesis occurs with its subsequent evolution and therefore, to develop a more accurate novel risk staging criteria for this type of neoplasm.

16.
Germs ; 12(1): 54-62, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35601948

RESUMO

Introduction: Nowadays, chronic viral hepatitis represents one of the most common pathological entities with over 400 million cases worldwide, with high diagnosis and treatment cost, severe complications in late stages and an annual death-rate around 1 million. The purpose of this study was to identify noninvasive ultrasound markers in order to establish an early diagnosis in asymptomatic chronic hepatitis. Methods: We enrolled in a prospective study 111 patients diagnosed with asymptomatic chronic hepatitis: 53 patients with hepatitis B (group A) and 58 patients with hepatitis C (group B). All patients underwent ultrasound exam; we evaluated the dimensions of the left hepatic lobe, right hepatic lobe, caudate lobe, portal vein, liver stiffness, presence of hepatic hilar lymph nodes, number and dimensions of the adenopathies. Results: Increased liver size was found in over 16% of patients in group A and over 20% of patients in group B. We registered an enlarged portal vein in 3.77% of patients in group A and in 3.45% of patients in group B. Adenopathies were found in 64.16% of group A and 82.76% of group B. Using long adenopathic axis as marker, we obtained a NPV over 0.9, PPV of 0.5 in the detection of chronic hepatitis B and a PPV of 0.9 in the detection of chronic hepatitis C in asymptomatic patients, a specificity of 0.98 for both chronic hepatitis B and C, a sensitivity of 0.81 for group B and 0.64 for group A. Conclusions: The presence of hilar liver adenopathies represents an important marker in detecting asymptomatic chronic viral hepatitis.

17.
J Med Life ; 14(3): 424-428, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34377212

RESUMO

Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are represented by homozygous mutations of the SMN1 gene (5q-SMA). Because this disease represents the leading cause of death due to a genetic cause and due to the availability of genetic therapies which can now save the life of the patient and stop the progress of the disease, early diagnosis is crucial. This report presents the case of a 13-year-old patient admitted to our hospital in 2018 who presented a phenotype typical to 5q-SMA. Next-generation sequencing (NGS) and Sanger sequencing of the SMN1 gene were performed, and a negative result was obtained. Consequently, we continued testing using whole-exome sequencing and discovered three mutations in the ASAH1 gene (one pathogenic and two variants of uncertain significance). Pathogenic mutations in the ASAH1 gene are responsible for spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease, which overlapped with our patient's phenotype. Currently, there are 45 SMA cases caused by mutations in the ASAH1 gene reported worldwide; however, the present case is the first reported in Romania.


Assuntos
Lipogranulomatose de Farber , Atrofia Muscular Espinal , Epilepsias Mioclônicas Progressivas , Adolescente , Adulto , Animais , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Feminino , Humanos , Masculino , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Fenótipo , Gravidez , Adulto Jovem
18.
Curr Health Sci J ; 47(3): 367-376, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35003768

RESUMO

The global prevalence of arterial hypertension is increasing. Due to its consequences, hypertension is a leading cause of morbidity /mortality. In this regard, awareness of the importance of diagnosis as well as proper treatment of hypertension is mandatory. OBJECTIVES: This study aims to analyze vascular compliance and different pressure characteristics depending on age, along with highlighting some clinical-paraclinical correlations in people diagnosed with hypertension. We used usual laboratory analyzes and the blood pressure values obtained using ABPM/24 hr, in addition to highlighting the impact of age on those parameters. MATERIALS AND METHODS: The sample comprises of 99 adults diagnosed with hypertension. We divided them into 2 groups, according to age: cases sample: 52 patients (age> 60 years old) and control sample: 47 patients (age< 60 years old). RESULTS: In the control group, RDW was correlated with the general and diurnal systolic and diastolic hypertonicity indexes and the platelet count was positively correlated only with the morning surge. The dipping profile correlates negatively with RDW. In the elderly, all three systolic blood pressure parameters are influenced by ESR and also correlate negatively with HDL, with an inverse proportional relationship. Statistically significant correlations were found between blood glucose and diurnal systolic and diastolic hypertonicity indexes. Mean Pulse Pressure correlates in the elderly with HDL (negative correlations) and in the young with RDW (positive correlations). CONCLUSIONS: Vascular compliance can be estimated with the help of HDL in the elderly and RDW in young people, considering the influence of the two parameters on pulse pressure.

19.
Curr Health Sci J ; 46(4): 383-389, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33717513

RESUMO

Arterial hypertension represents one of the most common pathologies in the adult population. Hypertensive patients have structurally altered arteries, with a higher rigidity that leads to a significant decrease in vascular compliance. At the base of the pathophysiological process stands the inflammation, as a reaction of the organism to injury. OBJECTIVES: This study aims to highlight clinical-paraclinical correlations in people diagnosed with arterial hypertension and inflammatory status. Thus, we would like to evaluate possible correlations between the usual inflammatory markers and blood pressure values. MATERIALS AND METHODS: The sample comprises 64 adults who were subsequently divided based on the diagnosis of arterial hypertension, by using Automatic Blood Pressure Monitoring, as following: Study group=26 patients (with arterial hypertension) and Control group: 38 patients (without arterial hypertension). RESULTS: The study has revealed negative correlations between the neutrophil/lymphocyte ratio (NLR) and the general diastolic average (r=-0.248 and p=0.047), the diurnal diastolic average (r=-0.258 and p=0.038) and the diurnal mean arterial pressure (r=-0.249 and p=0.046) and a negative correlation between the red cell distribution width (RDW) and the dipping index (r=-0.402 and p=0.013), each of them accomplishing the level of statistical significance. CONCLUSIONS: NLR can be used as a predictor of diastolic blood pressure values and as a factor of prognosis for the evolution of arterial hypertension. RDW is higher in non-dipping patients.

20.
Exp Ther Med ; 18(2): 905-910, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31384322

RESUMO

Methotrexate (MTX) is a folic acid analog with anti-proliferative (anti-neoplastic, cytotoxic), immunosuppressive and anti-inflammatory properties, which has been used in the treatment of various cutaneous disorders, such as psoriasis, keratoacanthoma, pityriasis rubra pilaris, atopic dermatitis, mycosis fungoides, bullous skin diseases, systemic sclerosis, morphea, lupus erythematosus, dermatomyositis and crusted scabies. Inhibition of cell proliferation is explained through its role in blocking DNA/RNA synthesis, by inhibiting dihydrofolate reductase, necessary for the production of pyrimidine and purine nucleotides. An anticancer effect can be related to α-oxoaldehyde metabolism (MTX increases methylglyoxal levels). Its anti-inflammatory property is based on the inhibition of 5-aminoimidazole-4-carboxamide ribonucleotide transformylase, thus increasing intracellular and extracellular adenosine, a purine nucleoside with anti-inflammatory effect. This drug can limit inflammation by scavenging free radicals and decreasing malondialdehyde-acetaldehyde protein-adduct production. Moreover, the anti-proliferative and anti-inflammatory effects can also be related to inhibition of the DNA methylation pathway, thus inhibiting methionine formation. The aim of the present study was to report various dermatological cases from our daily practice that demonstrate the efficacy of MTX in the treatment of cutaneous diseases, highlighting different mechanisms of action: its anti-inflammatory effect in psoriasis and its anti-proliferative, and anti-neoplastic effect in well-differentiated squamous cell carcinoma or in keratoacanthoma. Moreover, different administration pathways and doses are addressed. Assessment of the treatment plan, clinical improvement of cutaneous lesions, biologic evaluation, final aesthetic result, quality of life, as well as potential adverse effects and drug tolerance related to each case mentioned.

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