Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation

Background: Bronchiolitis is one of the most common respiratory diseases requiring hospitalization. Nebulized epinephrine and salbutamol therapy has been used in different centres with varying results. Objective: The objective of the study was to compare the efficacy of nebulised adrenaline diluted with 3% hypertonic saline with nebulised adrenaline diluted with normal saline in bronchiolitis. Methods: Fifty three infants and young children with bronchiolitis, age ranging from 2 months to 2 years, presenting in the emergency department of Manikganj Sadar Hospital were enrolled in the study. After initial evaluation, patients were randomized to receive either nebulized adrenaline I .5 ml ( 1.5 mg) diluted with 2 ml of3% hypertonic saline (group I) ornebulised adrenaline 1.5 ml (1.5 mg) diluted with 2 ml of normal saline (group II). Patients were evaluated again 30 minutes after nebulization. Results: Twenty eight patients in the group I (hypertonic saline) and twenty five in groupII (normal saline) were included in the study. After nebulization, mean respiratory rate decreased from 63.7 to 48.1 (p<.01), mean clinical severity score decreased from 8.5 to 3.5 (p<.01) and mean oxygen satw·ation increased 94.7% to 96.9% (p<.01) in group I. In group II, mean respiratory rate decreased from 62.4 to 47.4 (p<.01), mean clinical severity score decreased from 7.2 to 4.1 (p<.01) and mean oxygen saturation increased from 94. 7% to 96. 7% (p<.01). Mean respiratory rate decreased by 16 in group I versus 14.8 (p>.05) in group 11, mean clinical severity score decreased by 4.6 in group versus 3 (p<.05) in group, and mean oxygen saturation increased by 2.2% and 1.9% in group and group respectively. Difference in reduction in clinical severity score was statistically significant , though the changes in respiratory rate and oxygen saturation were not statistically significant. Conclusion: The study concluded that both nebulised adrenaline diluted with 3% hypertonic saline and nebulised adrenaline with normal saline are effective in improving respiratory rate, clinical severity score and oxygen saturation in infants with bronchiolitis; and nebulised adrenaline with hypertonic saline is more effective than nebulised adrenaline with normal saline in improving clinical severity score in bronchiolitis.

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Σύγκριση της αποτελεσματικότητας της χειρουργικής επέμβασης της σαφηνεκτομής και τοπικών εκριζώσεων στην αντιμετώπιση των συμπτωμάτων σε ασθενείς με χρόνια φλεβική νόσο

10.12681/eadd/49903 ◽

2021 ◽

Author(s):

Χρυσάνθη Παπαγεωργοπούλου

Keyword(s):

Severity Score ◽

Clinical Severity ◽

Cronbach’S Alpha ◽

Cronbach's Alpha ◽

Clinical Severity Score ◽

Venous Clinical Severity Score

Στόχος: Ο στόχος της μελέτης είναι η επικύρωση του 3D εργαλείου βαθμολόγησης – αξιολόγησης για τη χρόνια φλεβική νόσο, όπως προτάθηκε στο SYM VEIN consensus. Μέθοδος: Η παρούσα κλινική μελέτη είναι μία προοπτική μελέτη κοόρτης που περιλαμβάνει συνολικά τριάντα πέντε (35) ασθενείς, κατόπιν συναίνεσης, με χρόνια φλεβική νόσο. Οι ασθενείς αυτοί που θα υποβάλλονταν σε σαφηνεκτομή εκτιμήθηκαν με το αναθεωρημένο Venous Clinical Severity Sore (r-VCSS), με το CIVIQ-20 ερωτηματολόγιο για την ποιότητα ζωής και με το 3D σύστημα βαθμονόμησης του SYM VEIN consensus, προεγχειρητικά και τέσσερεις εβδομάδες μετά την επέμβαση. Το συνολικό αποτελέσματα του 3D εργαλείου αξιολόγησης ελέγχθηκε για την ανταπόκρισή του, για την αξιοπιστία του και για τη δομική του εγκυρότητα.Αποτελέσματα: Το συνολικό αποτέλεσμα του 3D εργαλείου αξιολόγησης αποδείχθηκε καλής αξιοπιστίας και εσωτερικής συνοχής (Cronbach’s alpha 0,85). Η πρωταρχική ανάλυση των καταληκτικών σημείων ταυτοποίησε τρεις ομάδες συμπτωμάτων (παραισθησία, καυστικό άλγος, κνησμός vs αίσθημα βάρους, αίσθημα οιδήματος, κνησμός vs σύνδρομο ανήσυχων ποδιών, πάλλων πόνος) αποδεικνύοντας μία υψηλή συσχέτιση των συμπτωμάτων που περιλαμβάνονται στην ίδια ομάδα και πιθανώς μοιράζονται κοινή παθοφυσιολογία, ενδεικτικό της επαρκούς δομικής εγκυρότητας του εργαλείου αξιολόγησης. Το συνολικό αποτέλεσμα του 3D εργαλείου αξιολόγησης είχε σημαντική συσχέτιση με το r-VCSS και το αποτέλεσμα του CIVIQ-20 (rho 0,46, p = 0,005 and rho 0,65, p < 0,001, αντίστοιχα), ενδεικτικό της επαρκούς συγκλίνουσας εγκυρότητας. Μετά τη σαφηνεκτομή, παρατηρήθηκαν στατιστικώς σημαντικές μειώσεις (p < 0,001) του συνολικού αποτελέσματος του 3D εργαλείου αξιολόγησης, αλλά και των επιμέρους αποτελεσμάτων του 3D εργαλείου για όλα τα φλεβικά συμπτώματα εκτός από δύο, ενδεικτικό της εξαιρετικής ανταπόκρισης του εργαλείου στη θεραπεία. Η διάμεση τιμή της συνολικής βαθμολογίας του 3D εργαλείου αξιολόγησης μειώθηκε από το 31 στο 6 (83,8% μείωση, p < 0,001), η διάμεση τιμή του r-VCSS μειώθηκε από το 6 στο 0 (100% μείωση, p < 0,001), και η μέση τιμή της βαθμολογίας του CIVIQ-20 μειώθηκε από το 24 στο 14 (40% μείωση, p < 0,001). Η διαφορά της ποσοστιαίας αλλαγής της διάμεσης τιμής των αποτελεσμάτων μεταξύ των r-VCSS και του CIVIQ-20 σε σύγκριση με τη συνολική βαθμολογία του 3D εργαλείου αξιολόγησης ήταν στατιστικώς σημαντική (p = 0,005 and p < 0,001, αντίστοιχα).Συμπέρασμα: Το συνολικό αποτέλεσμα του 3D SYM VEIN εργαλείου αξιολόγησης έχει καλή αξιοπιστία, δομική εγκυρότητα και εξαιρετική ανταπόκριση στη θεραπεία, παρά του ότι είναι λιγότερο επιρρεπές στην αλλαγή μετά τη σαφηνεκτομή, σε σύγκριση με την αναθεωρημένη μορφή του Venous Clinical Severity Score (r-VCSS).

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Evaluation of liquid or foam sclerotherapy in small varicose veins (ceap c1) with venous clinical severity score

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.64.12.1117 ◽

2018 ◽

Vol 64 (12) ◽

pp. 1117-1121 ◽

Cited By ~ 2

Author(s):

Mehmet Ali Kaygin ◽

Umit Halici

Keyword(s):

Severity Score ◽

Skin Necrosis ◽

Varicose Veins ◽

Clinical Severity ◽

Foam Sclerotherapy ◽

Clinical Severity Score ◽

Severity Scores ◽

Study Results ◽

Venous Clinical Severity Score ◽

The Mean

SUMMARY OBJECTIVE: We aimed to evaluate the efficacy of liquid or foam sclerotherapy of varicose veins using venous clinical severity scores and possible complications. METHODS: A total of 318 patients (268 females, 50 males) who were treated with liquid or foam sclerotherapy between January 2012 and December 2012 were included in this study. RESULTS: Skin necrosis was observed in only 6 patients (1. 8%), thrombophlebitis in 10 patients (3. 1%), and hyperpigmentation in 18 patients (5. 6%) in this study group. The mean venous clinical severity score was calculated as: pain score, 1. 23 ± 0.88; varicose vein score,1.85 ± 0. 8; edema score, 0.64 ± 0.77). Pain and edema decreased at the control examination, 1 month after completion of sclerotherapy sessions. Varicose veins completely disappeared after sclerotherapy. While the decrease in edema in the foam sclerotherapy group was significantly less (P<0.001), the decline in pain showed an increasing trend (P=0.069). While skin necrosis did not develop after foam sclerotherapy, rates of pigmentation and local thrombophlebitis were similar (P>0.05). CONCLUSION: In conclusion, we observed that both sclerotherapy methods are effective with a low rate of complications, alleviating the complaints of patients with small varicose veins, and providing considerable improvement in venous clinical severity scores.

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Performance characteristics of the venous clinical severity score

Journal of Vascular Surgery ◽

10.1067/mva.2002.128637 ◽

2002 ◽

Vol 36 (5) ◽

pp. 889-895 ◽

Cited By ~ 84

Author(s):

Mark H. Meissner ◽

Cynthia Natiello ◽

Stephen C. Nicholls

Keyword(s):

Severity Score ◽

Performance Characteristics ◽

Clinical Severity ◽

Clinical Severity Score ◽

Venous Clinical Severity Score

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Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants

Progress in Orthodontics ◽

10.1186/s40510-021-00387-z ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Cristina Grippaudo ◽

Isabella D’Apolito ◽

Concetta Cafiero ◽

Agnese Re ◽

Pietro Chiurazzi ◽

...

Keyword(s):

Clinical Characteristics ◽

Mutational Analysis ◽

Clinical Signs ◽

Open Bite ◽

Clinical Severity ◽

Mixed Dentition ◽

Phenotype Correlation ◽

Posterior Teeth ◽

Primary Failure Of Eruption ◽

Genotype Phenotype Correlation

Abstract Background Primary failure of eruption (PFE) is a hereditary condition, and linkage with variants in the PTH1R gene has been demonstrated in many cases. The clinical severity and expression of PFE is variable, and the genotype–phenotype correlation remains elusive. Further, the similarity between some eruption disorders that are not associated with PTH1R alterations is striking. To better understand the genotype–phenotype correlation, we examined the relationship between the eruption phenotype and PTH1R genotype in 44 patients with suspected PFE and 27 unaffected relatives. Sanger sequencing was employed to analyze carefully selected PFE patients. Potential pathogenicity of variants was evaluated against multiple genetic databases for function prediction and frequency information. Results Mutational analysis of the PTH1R coding sequence revealed 14 different variants in 38 individuals (30 patients and 8 first-degree relatives), 9 exonic and 5 intronic. Their pathogenicity has been reported and compared with the number and severity of clinical signs. In 72.7% of patients with pathogenic variants, five clinical and radiographic criteria have been found: involvement of posterior teeth, involvement of the distal teeth to the most mesial affected, supracrestal presentation, altered vertical growth of the alveolar process and posterior open-bite. In cases with mixed dentition (3), the deciduous molars of the affected quadrant were infraoccluded. Discussion The probability of an affected patient having a PTH1R variant is greater when five specific clinical characteristics are present. The likelihood of an eruption defect in the absence of specific clinical characteristics is rarely associated with a PTH1R mutation. Conclusions We report here that systematic clinical and radiographic observation using a diagnostic rubric is highly valuable in confirming PFE and offers a reliable alternative for accurate diagnosis.

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Comparative evaluation of nebulised 3% saline versus nebulised 0.9% saline in the treatment of acute bronchiolitis

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20192008 ◽

2019 ◽

Vol 6 (3) ◽

pp. 1182

Author(s):

Pragalatha Kumar A. ◽

Indhuja Rajarathinam ◽

Aruna Gowdra

Keyword(s):

Hospital Stay ◽

Severity Score ◽

Length Of Hospital Stay ◽

Signs And Symptoms ◽

Clinical Severity ◽

Controlled Study ◽

Acute Bronchiolitis ◽

Clinical Severity Score ◽

Group A ◽

Group B

Background: Acute bronchiolitis is the most common respiratory tract infection in young children. Despite the high prevalence of acute bronchiolitis, no consensus exists on the management. Studies have shown that except oxygen therapy, no other treatment found to be effective. Hence, the present study was conducted to find out the efficacy of nebulised 3% saline versus is 0.9% saline for the treatment of acute bronchiolitis.Methods: A prospective randomized controlled study of 150 children between the age group of 2 months to 24 months with signs and symptoms of Acute Bronchiolitis admitted to Indira Gandhi Institute of Child Health, Bangalore from January 2016 to December 2016 formed the study group, they were randomized into 2 groups, one received 3% saline nebulization and the other received 0.9% saline.Results: A total of 150 children were enrolled in the study, 75 children (group A) received 0.9% saline and 75 children (group B) received 3% saline. At 24 hours, the mean clinical severity score for group A was 2.49±1.03 and group B was 2.16±0.49 (P=0.013). The duration of hospital stay was shorter (1-3 days) in 3% saline with a mean of 2.35 days and was longer (3-5 days) in 0.9% saline with mean value of 4.04 days which was statistically significant (p <0.001).Conclusions: 3% saline nebulization can be used as an effective treatment for acute bronchiolitis. It significantly reduced the clinical severity score and length of hospital stay compared to 0.9% normal saline.

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Novel Variants of Respiratory Syncytial Virus A ON1 Associated With Increased Clinical Severity of Bronchiolitis

The Journal of Infectious Diseases ◽

10.1093/infdis/jiaa059 ◽

2020 ◽

Vol 222 (1) ◽

pp. 102-110

Author(s):

Fabio Midulla ◽

Greta Di Mattia ◽

Raffaella Nenna ◽

Carolina Scagnolari ◽

Agnese Viscido ◽

...

Keyword(s):

Respiratory Syncytial Virus ◽

Amino Acid ◽

Severity Score ◽

Multinomial Logistic Regression ◽

Clinical Severity ◽

Term Infants ◽

Clinical Severity Score ◽

Glycosylation Sites ◽

Novel Variants ◽

Syncytial Virus

Abstract Background A study of respiratory syncytial virus-A (RSV A) genotype ON1 genetic variability and clinical severity in infants hospitalized with bronchiolitis over 6 epidemic seasons (2012–2013 to 2017–2018) was carried out. Methods From prospectively enrolled term infants hospitalized for bronchiolitis, samples positive for RSV A ON1 (N = 139) were sequenced in the second half of the G gene. Patients’ clinical data were obtained from medical files and each infant was assigned a clinical severity score. ANOVA comparison and adjusted multinomial logistic regression were used to evaluate clinical severity score and clinical parameters. Results The phylogenetic analysis of 54 strains showed 3 distinct clades; sequences in the last 2 seasons differed from previous seasons. The most divergent and numerous cluster of 2017–2018 strains was characterized by a novel pattern of amino acid changes, some in antigenic sites. Several amino acid changes altered predicted glycosylation sites, with acquisition of around 10 new O-glycosylation sites. Clinical severity of bronchiolitis increased in 2016–2017 and 2017–2018 and changed according to the epidemic seasons only. Conclusions Amino acid changes in the hypervariable part of G protein may have altered functions and/or changed its immunogenicity, leading to an impact on disease severity.

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Correction to: Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

Osteoporosis International ◽

10.1007/s00198-017-4250-6 ◽

2017 ◽

Vol 29 (1) ◽

pp. 261-261

Author(s):

Y. Liu ◽

Asan ◽

D. Ma ◽

F. Lv ◽

X. Xu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Osteogenesis Imperfecta ◽

Gene Mutation ◽

Mutation Spectrum ◽

Next Generation ◽

Phenotype Correlation ◽

Targeted Next Generation Sequencing ◽

Genotype Phenotype Correlation ◽

Generation Sequencing

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Impacto da escleroterapia com espuma de polidocanol guiada por ultrassom em pacientes com úlcera venosa

Jornal Vascular Brasileiro ◽

10.1590/1677-5449.002717 ◽

2017 ◽

Vol 16 (3) ◽

pp. 239-243 ◽

Cited By ~ 1

Author(s):

Melissa Andreia de Moraes Silva ◽

Álefy Zanelato Pereira Araujo ◽

Jéssica Funchal do Amaral ◽

Seleno Glauber de Jesus-Silva ◽

Rodolfo Souza Cardoso ◽

...

Keyword(s):

Severity Score ◽

Clinical Severity ◽

Clinical Severity Score ◽

Venous Clinical Severity Score

Resumo Contexto A escleroterapia com espuma de polidocanol guiada por ultrassom tem sido utilizada no tratamento de pacientes com úlceras venosas. É um procedimento minimamente invasivo e de fácil execução, porém apresenta taxas de recidiva elevadas. Objetivos Relatar a evolução a curto e médio prazo de pacientes com úlcera venosa tratados com escleroterapia com espuma de polidocanol guiada por ultrassom. Métodos Foram reavaliados 19 pacientes submetidos ao tratamento de escleroterapia com espuma de polidocanol guiada por ultrassom no período de janeiro de 2013 a dezembro de 2014. Foram analisados tempo de cicatrização da úlcera, melhora de sintomas clínicos, recanalização das veias tratadas, recidiva dos sintomas e da úlcera venosa. Resultados Foram analisados 15 pacientes do sexo feminino (78,9%) e quatro do sexo masculino (21,1%). A média geral de idade foi de 53 anos. O tempo de seguimento dos pacientes variou de 448 dias a 1.276 dias (média de 791 dias). O tempo médio de presença das úlceras foi de 53 meses. Na avaliação pós-procedimento, foram observadas recanalização total em 15,7%, recanalização parcial em 21% e oclusão em 47,3% das veias tratadas. Apenas em um caso foi observada recidiva da úlcera. Pela avaliação das médias do Venous Clinical Severity Score (VCSS), houve diferença significativa antes e após o procedimento, com variação entre os grupos de 11,2 (p < 0,01). Conclusões A escleroterapia por espuma guiada por ultrassom apresenta altas taxas de sucesso terapêutico, com índices de cicatrização de úlceras venosas elevados.

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