scholarly journals The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

2011 ◽  
Vol 20 (3) ◽  
pp. 357-360 ◽  
Author(s):  
Dario Ronchi ◽  
Monica Sciacco ◽  
Andreina Bordoni ◽  
Monika Raimondi ◽  
Michela Ripolone ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Respiratory Impairment

A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

2007 ◽  
Vol 28 (4) ◽  
pp. 379-383 ◽  
Author(s):  
Zubeyde Gunduz ◽  
Ismail Dursun ◽  
Juan I. Aróstegui ◽  
Jordi Yagüe ◽  
Ruhan Dusunsel ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Turkish Case

Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?

2017 ◽  
Vol 81 (3) ◽  
pp. 125-128 ◽  
Author(s):  
Priya Hariharan ◽  
Manju Gorivale ◽  
Roshan Colah ◽  
Kanjaksha Ghosh ◽  
Anita Nadkarni
Keyword(s):  
Gene Mutation ◽  
Fetal Hemoglobin ◽  
The Novel ◽  
Klf1 Gene

The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome

2010 ◽  
Vol 32 (6) ◽  
pp. 486-488 ◽  
Author(s):  
Mara Sanches Guaragna ◽  
Fernanda Caroline Soardi ◽  
Juliana Godoy Assumpção ◽  
Lílian de Jesus Girotto Zambaldi ◽  
Izilda Aparecida Cardinalli ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Wt1 Gene ◽  
Drash Syndrome

scholarly journals Residual respiratory impairment after COVID-19 pneumonia

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Francesco Lombardi ◽  
Angelo Calabrese ◽  
Bruno Iovene ◽  
Chiara Pierandrei ◽  
Marialessia Lerede ◽  
...  
Keyword(s):  
Hospital Discharge ◽  
Pulmonary Function Tests ◽  
The Novel ◽  
Respiratory Impairment ◽  
Arterial Blood Gas ◽  
Lung Capacity ◽  
Arterial Blood ◽  
6Mwt Distance ◽  
Novel Coronavirus

Abstract Introduction The novel coronavirus SARS-Cov-2 can infect the respiratory tract causing a spectrum of disease varying from mild to fatal pneumonia, and known as COVID-19. Ongoing clinical research is assessing the potential for long-term respiratory sequelae in these patients. We assessed the respiratory function in a cohort of patients after recovering from SARS-Cov-2 infection, stratified according to PaO2/FiO2 (p/F) values. Method Approximately one month after hospital discharge, 86 COVID-19 patients underwent physical examination, arterial blood gas (ABG) analysis, pulmonary function tests (PFTs), and six-minute walk test (6MWT). Patients were also asked to quantify the severity of dyspnoea and cough before, during, and after hospitalization using a visual analogic scale (VAS). Seventy-six subjects with ABG during hospitalization were stratified in three groups according to their worst p/F values: above 300 (n = 38), between 200 and 300 (n = 30) and below 200 (n = 20). Results On PFTs, lung volumes were overall preserved yet, mean percent predicted residual volume was slightly reduced (74.8 ± 18.1%). Percent predicted diffusing capacity for carbon monoxide (DLCO) was also mildly reduced (77.2 ± 16.5%). Patients reported residual breathlessness at the time of the visit (VAS 19.8, p < 0.001). Patients with p/F below 200 during hospitalization had lower percent predicted forced vital capacity (p = 0.005), lower percent predicted total lung capacity (p = 0.012), lower DLCO (p < 0.001) and shorter 6MWT distance (p = 0.004) than patients with higher p/F. Conclusion Approximately one month after hospital discharge, patients with COVID-19 can have residual respiratory impairment, including lower exercise tolerance. The extent of this impairment seems to correlate with the severity of respiratory failure during hospitalization.

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

2012 ◽  
Vol 18 ◽  
pp. S188-S189
Author(s):  
D. Koziorowski ◽  
M. Jurek ◽  
D. Hoffman-Zacharska ◽  
J. Bal ◽  
A. Friedman
Keyword(s):  
Gene Mutation ◽  
The Novel

scholarly journals Residual Respiratory Impairment After COVID-19 Pneumonia

2021 ◽  
Author(s):  
Francesco Lombardi ◽  
Angelo Calabrese ◽  
Bruno Iovene ◽  
Chiara Pierandrei ◽  
Marialessia Lerede ◽  
...  
Keyword(s):  
Pulmonary Function Tests ◽  
Functional Condition ◽  
The Novel ◽  
Functional Impairments ◽  
Respiratory Impairment ◽  
Arterial Blood Gas ◽  
Lung Capacity ◽  
Arterial Blood ◽  
Novel Coronavirus

Abstract Introduction: the Novel Coronavirus Disease (Covid-19) can infect the respiratory tract, causing mild to deadly respiratory impairment. It is still unknown whether patients recovering from Covid-19 will develop respiratory sequelae. This study aims to evaluate the respiratory and functional condition of Covid-19 recovered patients, stratified according to their worst p/F during hospitalization for Covid-19. Method: 86 Covid-19 recovered subjects performed, after 39 days on average, physical examination and arterial blood gas (ABG) examination, pulmonary function tests (PFTs) with diffusing capacity of the lung for carbon monoxide (DLco), and six-minute walk test (6MWT). Subjects also quantified their dyspnoea and cough using a visual analogic scale (VAS) at three-time points: previously than COVID infection, during COVID hospitalization, and currently. The 76 subjects with reliable ABG during the hospitalization were stratified in three groups according to their worst PaO2/FiO2 ratio (p/F): “mild”: p/F>300 (n = 38); “moderate”: 200<p/F<300 (n = 30), “severe” p/F < 200 (n = 20). Results: In this cohort, Covid-19 recovered subjects still reported significant residual dyspnoea at the visit time. The severe subjects group showed a lower Total Lung Capacity (TLC), a lower DLco, and a worse 6MWT performance. Conclusion: After Covid-19, respiratory and functional impairments may persist. These impairments seem to be more severe as much as minor was the patient worst p/F during hospitalization. These patients should receive a strict follow-up.

scholarly journals A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

2017 ◽  
Vol 129 ◽  
pp. 59-61 ◽  
Author(s):  
Dragan Katanic ◽  
Ivana Vorgučin ◽  
Andrew Hattersley ◽  
Sian Ellard ◽  
Jayne A.L. Houghton ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
The Novel ◽  
Successful Transition ◽  
Abcc8 Gene

Functional Significance of the Novel H-RAS Gene Mutation M72I in a Patient with Medullary Thyroid Cancer

2013 ◽  
Vol 121 (09) ◽  
pp. 546-550 ◽  
Author(s):  
S. Barollo ◽  
R. Pezzani ◽  
A. Cristiani ◽  
L. Bertazza ◽  
B. Rubin ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutation ◽  
Functional Significance ◽  
Medullary Thyroid Cancer ◽  
The Novel ◽  
Ras Gene ◽  
Medullary Thyroid
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