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ACE2 and TMPRSS2 polymorphisms and the development of COVID-19: a review of the literature

Published on: 28th April, 2022

SARS-CoV-2 is a virus that has a positive-sense, single-stranded RNA genome that encodes 4 structural proteins, the main one being the S protein (Spike) responsible for mediating with ACE2 and TMPRSS2 for entry into the host cell. The study of single nucleotide polymorphisms (SNPs) of ACE2 and TMPRSS2 can elucidate their possible intervention in the action of the protein, its activity, and the gene expression of encoding these enzymes, which may increase susceptibility to viral infection. From this, literature searches were carried out until December 2021, listing 11,820 publications for literary analysis on the described genetic variations of these protein structures, as well as their relation and influence on the pathology. It was possible to conclude that there is a great influence exerted by genetic variability in ACE2 and TMPRSS2 increasing the ability of the virus to bind to the host cell and the development of COVID-19 with complications. 
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Nasopalatin duct cysts: Report of ten cases and review of literature

Published on: 10th November, 2020

OCLC Number/Unique Identifier: 8872658282

Nasopalatine duct cyst is the most common non-odontogenic cyst. It develops in the midline of the anterior maxilla. It is usually asymptomatic and sometimes it can be overlooked or misdiagnosed. We present 10 patients who applied to Istanbul University Faculty of Dentistry, Department of Oral and Maxillofacial Surgery.
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Control of arterial hypertension and risk of new-onset of atrial fibrillation in patients with metabolic syndrome

Published on: 10th March, 2022

Background: An association between Atrial Fibrillation (AF) and Metabolic Syndrome (MS) a constellation of abnormalities (high blood pressure, hyperglycemia, dyslipidemia, and abdominal obesity), has been demonstrated. There have been many studies that have shown that elevated blood pressure (BP), was significantly associated with an increased risk of AF. It is uncertain whether maintaining the optimal BP levels can prevent AF in the patients with MS categorized as ‘high-risk’ patients.Objective: The aim of this study was to evaluate the influence of control of BP on the occurrence of new-onset atrial fibrillation in patients with Metabolic Syndrome.Methods: Into this observational study, was enrolled 435 consecutive patients (210 males and 225 females) aged 45-79 years who fulfilled criteria for MS. Participants were selected among primary and secondary care patients, who were receiving ongoing care for arterial hypertension in the period from November 2018 till November 2021. The study was conducted at outpatients in 5 Health Care Clinics (3 Secondary Health Care Clinics and 2 Primary Health Clinics). Patient were categorized according to their BP levels as Group 1-patients with controlled BP, {(patients aged < 65 years Systolic Blood Pressure (SBP) of 120 - 130 mmHg, patients aged ≥ 65 years SBP of 130 - 139 mmHg)} and Diastolic Blood Pressure (DBP), {(patients aged < 65 years of < 80 mmHg. but not < 70 mmHg; patients aged ≥ 65 years of 85 - 89 mmHg)}, or Group 2-patients with uncontrolled BP(> 130/80 mmHg),and in patients aged ≥ 65 years BP (≥ 140/90 mmHg ). Results: New-onset of AF, was more frequent in participants with uncontrolled BP, respectively (34.7% vs. 19.5%, p = 0.009).Patients with uncontrolled BP have more frequent persistent AF (15.2% vs. 0.04%) and permanent AF (0.08% vs. 0.02%), whereas there was not significant changes between groups in relation to frequency of paroxysmal AF, respectively (12.8% vs. 10.9%, p = 0.29). There was observed significant association of uncontrolled BP with: increased frequency of AF (OR = 2.193; 95% CI 1.390 - 3.439), persistent AF (OR = 3.931; 95% CI 1.771 - 8.084), permanent AF (OR = 4.138; 95% CI 1.383-12.381), LA. Dimension ≥ 2.2 cm/m2 (OR = 2.089, 95% CI 1.330 - 3.252), BMI (OR = 5.226, 95% CI 3.155 - 8.659) and 5-risk factors for MS, respectively (OR = 2.998, 95% CI 1.833 - 4.901).Conclusion: Optimal BP levels, can reduce the frequency of new-onset AF in patients with MS categorized as ‘high-risk’ patients. Uncontrolled BP was associated with an increased risk of both subtypes of AF (persistent and permanent) in the patients with MS categorized as ‘high-risk’ patients.
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Ectopic adrenal tissue at the spermatic cord

Published on: 2nd June, 2022

This is a 19-year-old patient. His clinical examination finds an empty bursa with a palpable left testicle at the level of the inguinal canal.
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Practice patterns and outcomes of repository corticotropin injection (Acthar® Gel) use in childhood nephrotic syndrome: A study of the North American Pediatric Renal Trials and collaborative studies and the Pediatric Nephrology Research Consortium

Published on: 23rd July, 2021

OCLC Number/Unique Identifier: 9140608009

Objective: We set up a U.S. registry to examine prescription patterns and patient outcomes of repository corticotropin injection (Acthar® Gel) for childhood nephrotic syndrome. Methods: 18 participating U.S. pediatric centers performed retrospective review and prospective observation of patients < 21 years old with nephrotic syndrome treated with Acthar Gel. We captured baseline characteristics, drug regimen and duration, and disease response following treatment. Results: 46 patients, enrolled from 2015 to 2020 were included. 27 (58.7%) were male. 18 patients (39.1%) had a diagnosis of minimal change followed by focal segmental glomerulosclerosis in 16 patients (34.7%). Median age at start of treatment was 12.5 years (IQR 8.5-17.4) compared to 5.3 years at diagnosis (IQR 2.7-10.5 years). 52% were resistant to corticosteroids. The most common Acthar Gel regimen was 80IU twice a week with a median duration of 199 days (IQR 88-365). Among 37 patients with active disease, 18 (49%) were able to achieve partial or complete remission, though all patients that had a positive response were on other immunosuppressants concomitantly. Conclusion: We report the findings of the largest registry cohort of pediatric patients in the U.S. treated with Acthar Gel for clinically challenging cases of nephrotic syndrome. Acthar Gel was successful in inducing remission in approximately half of the patients with active disease at time of treatment. No predictors of response with respect to demographic data, age at start of Acthar Gel therapy, etiology of nephrotic syndrome, presence or absence of comorbidities, or steroid responsiveness was noted.
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OPEN and CLOSED state of SPIKE SARS-COV-2: relationship with some integrin binding. A biological molecular approach to better understand the coagulant effect

Published on: 2nd July, 2021

OCLC Number/Unique Identifier: 9272357651

Related the physio-pathological process of COVID-19 disease it is interesting to focus to the aspect. Played by interaction of Sars-Cov-2 protein with integrins of human epithelial pulmonary cell. A bio molecular approach help in to deeply verify the involved factors and the results of this Activation RGD mediated. Of Great interest also the relationship with some vaccine strategy followed by the various pharmaceutical industry. The results of this work will be useful to think modification in some vaccine increasing the global safety and related some rare ADR.
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A Genetic study in assisted reproduction and the risk of congenital anomalies

Published on: 12th October, 2021

OCLC Number/Unique Identifier: 9305465911

In vitro fertilization is one of the most common and effective procedure for thousands of couples worldwide who want to have a child and are unable to do so for various reasons. Diverse studies show that couples who conceive naturally after one year of trying had newborns with an increased risk of prematurity and low birth weight, compared with couples who conceived before completing one year of trying. Children from assisted reproduction (AR), have a 30% increased risk of prematurity and low birth weight, compared with children from infertile fathers. Regarding the conflicting results the present study aimed to record the frequency of genetic, congenital anomalies in children and adolescents who had examined in the last decade to the Clinical Genetics Clinic of the National and Kapodistrian University of Athens whose mothers had undergone assisted reproduction. The research process was conducted at the "Aghia Sofia" Children's Hospital based in Athens. However, the cases that were studied came from all over Greece. Initially, the researcher recorded the cases that came to the clinic of Clinical Genetics and whose conception occurred after technical assisted reproduction. After telephone communication and the consent of the parents, a live appointment was scheduled. In this meeting-interview all the provisions of the investigation and the protocol were asked and some elements of the medical history of the cases were confirmed. The total sample included 230 children and adolescents. The resulting data were recorded on a printed form/questionnaire. Then, they were registered electronically in the program SPSS 25.0 (Statistical Package for Social Sciences) with a specific unit code for each case/patient, followed by the processing and statistical analysis of the data as well as the recording of the results. The gender of the participants was male for 118 participants (51.3%) and 112 females (48.7%). Mean and standard deviation (SD) of maternal, paternal (at the time of delivery) age was equal to 36.38 (5.94) and 39.94 (6.58) respectively. The observed abdormalities were 35.53% psychomotor retardation, 23.68% facial abnormalities, 23.68% spinal cord abnormalities, 21.05% morphological abnormalities, 20.61% short stature, 19.74% developmental disorders, 19.30% heart disease, 16.67% neurological diseases, 14.47% genetic syndromes, 11.40% genital abnormalities, 8.33% limb abnormalities, 7.46% dermatological abnormalities, 6.14% eye abnormalities, 6.14% hypothyroidism, 5.70% endocrine disorders, 5.26%otolaryngology abnormalities, 2.63% disease of kidney, intestine, 2.19% vascular malformations. Regarding the karyotype chromosome analysis by G-banding technique, from the 230 children in: 24 (10.43%) a pathological result was found, in 158 children (68.70%) it was found normal (46, XX or 46, XY by case) without other findings, while in 48 children (20.87%) the test was not performed for various reasons. Regarding the results of molecular analysis (DNA) from the 230 children, in 50 (21.74%) a pathological finding was found, in 56 children (24.35%) no abnormalities were found and in 124 children (53.91%) no molecular analysis was performed for various reasons. In conclusion, the sample of this descriptive study is characterized as uniform in terms of the method of assisted reproduction since 96.24% had followed the classic IVF. Full-term pregnancy was associated with the appearance of malignancy and head morphological abnormalities (64.6%), normal pregnancy was associated with genetic syndromes (18.2%) and facial abnormalities (11.1%). It is recommended the screening oocyte and sperm donors in order to help protect the safety and health of donors, recipients, and future offspring. The present study confirms the association of the presence of congenital anomalies after in vitro fertilization (IVF). However, the absolute risk of developing severe dysplasias after an IVF procedure is limited.
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Comparative efficacy of inspiratory, expiratory and combined respiratory muscle training on the pulmonary functions and chest expansion in acute stroke survivors

Published on: 16th July, 2021

OCLC Number/Unique Identifier: 9137661170

Background: Respiratory muscle strength can be reduced in patients diagnosed with stroke, which reasonably justifies the use of respiratory muscle training in this population. This study determines the comparative efficacy of inspiratory, expiratory, and combined respiratory muscle training on the pulmonary functions and chest expansion in acute stroke survivors. Method: Forty-five acute stroke survivors (15 in each group) completed all protocols of the study. Participants were randomly assigned to any one of three groups. In addition to the conventional exercise therapy, participants received any one of the three respiratory muscle training protocols (inspiratory muscle training, expiratory muscle training or combined respiratory muscle training). Chest expansion was assessed using tape measure and pulmonary function parameters were assessed using a spirometer. Results: Paired t-test analysis showed significant improvements in the chest expansion and the pulmonary function parameters following training in each group. One-way ANOVA showed significant improvements in the pulmonary function parameters across the three groups but not in the chest expansion with p - value = 0.405. Least significant difference (LSD), post-hoc analysis shows that the significant difference for FEV1, FVC and FEV1/FVC lies between inspiratory muscle training group and expiratory muscle training group. Conclusion: When the three training methods were compared, it was found that expiratory muscle training was the most beneficial in improving the pulmonary functions and chest expansion in acute stroke survivors.
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Save the radial: go distally

Published on: 7th April, 2022

Coronary artery disease is the leading cause of death worldwide.Percutaneous coronary intervention (PCI) is one of the most widely performed medical procedures used to save lives, currently over 3 million annually worldwide.The femoral artery has been the preferred vascular access site. However, radial access is gaining extensive popularity due to the benefits of earlier ambulation, fewer access site complications, and decreased rates of bleeding. Improvements in technology and understanding of the anatomic features of the vascular system have led to new insights into coronary angiography procedures.Distal radial access, which was first used in 2017, shows a higher success rate and fewer complications than previous sites; therefore, it might be the future for cardiovascular intervention.For this purpose, we conducted this prospective study at Beirut Cardiac Institute (BCI) comparing the two arms: radial vs. distal radial artery techniques through the anatomical snuffbox, in terms of patient’s length of stay, complication rate, and success rate of each procedure.
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Fibromuscular dysplasia and aortic dissection

Published on: 30th March, 2022

Fibromuscular dysplasia is a rare, non-atherosclerotic, non-inflammatory vascular disease that typically affects women between the ages of 20 and 60 years.Although any artery can be affected fibromuscular dysplasia most commonly affects the renal and carotid arteries. Fibromuscular dysplasia of the renal arteries usually presents with hypertension, while carotid or vertebral artery disease causes transient ischemic attacks, strokes, or dissection. Aortic dissection is rare. We present the clinical case of a patient with fibromuscular dysplasia with type B aortic dissection.
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