{"title":"Characterization of Patients with Noonan Syndrome-Type Rasopathies by PTPN11 Variant","authors":"Liliana Mejía de Beldjenna","doi":"10.54026/cjct/1015","DOIUrl":"https://doi.org/10.54026/cjct/1015","url":null,"abstract":"Introduction: RASopathies are a set of phenotypically overlapping syndromes caused by mutations in genes that play a role in the RAS/MAPK pathway involved in development through growth factors. The most common is Noonan Syndrome (NS) which is an autosomal dominant genetic disorder, of low prevalence and which in 50% of cases is associated with variants in the PTPN11 gene. Clinical manifestations are short stature, dysmorphic facial features, congenital heart defects, most commonly pulmonary valve stenosis, typical chest, and cryptorchidism. Results: We describe 4 patients with RASopathy Noonan syndrome due to alteration in the PTPN11 gene: 3 males, and 1 female, with an average gestational age of 37.6 weeks, 2.9 kg of weight, and 45.5 cm of height at birth. 100% had: palpebral ptosis, winged neck, pectum carinatum, and short stature, 75% had heart diseases such as subaortic stenosis and ventricular septal defect, and 33% had hypoacusis and altered genitalia. The genetic variants found in the PTPN 11 gene, all heterozygous were: in the sporadic males: Exon 7 c.836 A>G. pTYR:279cys, and c.417G>C (p. Glu139Asp) and p.Asn 308 Ser , c..923A>G heterozygosis. The female with a variant in c.417G>C (p. Glu139Asp) whose mother has SN. Analysis: We found the PTPN11 gene variant in all our patients with NS, 75% being sporadic and 25% familial. Although the diagnosis of Noonan syndrome is clinical, this variant according to the literature is found in 50% of patients, in almost 60% of familial cases, and in almost 40% sporadic. There is a phenotype-genotype correlation in these patients and it is suggested that they should be monitored for predisposition to malignancy. Conclusions: It is essential to typify the clinical and genetic alteration in patients with RASopathies so that physicians involved in the care of these patients are familiar with the diagnosis, genetic variant, manifestations, and clinical follow-up, especially because of their predisposition to malignancy","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"79 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114429765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Yellow Ligament of the Chin, As Part of Retaining Ligaments of the Face: Bibliographic Review and Proposal for Terminology Change","authors":"Z. Núñez-Gil","doi":"10.54026/cjct/1014","DOIUrl":"https://doi.org/10.54026/cjct/1014","url":null,"abstract":"Background: The yellow ligament of the chin or chin fat pad is poorly described in anatomic publications, is a morphological structure not very well known, but constant, its relevance in facial physiognomy is currently recognized. its anatomy, histology and function. a change of terminology is proposed according to the anatomical terminology. Methods: The study observational of the population consisted of the 10 patiens who were going to perform procedures in the chin. A bibliographic review of the yellow ligament of the chin was carried out. Results: The yellow ligament of the chin is an constant anatomical structure described in the various anatomy texts and journal articles that were evaluated, of the 10 patients observed clinically in trans-surgical procedures on the mental region, the yellow ligament of the chin was present clinically in 8 patients. Conclusions: Based on the anatomy, location and histology of the yellow ligament of the chin, and to the descriptions of the yellow ligamments to chin this must be recognized is part of the retaining ligaments of the face, a new terminology is proposed for said ligament, septum dermis osseum menti (osteocutaneous mentalis septum, in english).","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121177835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Parathyroid Carcinoma in A Young Adult Parathyroid Carcinoma","authors":"Mintegui Gabriela","doi":"10.54026/cjct/1012","DOIUrl":"https://doi.org/10.54026/cjct/1012","url":null,"abstract":"A 21-year-old woman with no pathological history, who consults for a routine check-up. Neck examination revealed a 2-centimeter hard cervical swelling and shoulder tumor was palpated. Laboratory: hypercalcemia, Parathyroid Hormone (PTH) very high at 1312pg/ml, that is, more than 15 times normal. Technetium-99m-sestamibi scintigraphy showed an area of abnormal MIBI fixation on the right lower parathyroid projection. Right upper and lower parathyroidectomy with right lobectomy and surrounding adipose tissue was performed. The postoperative course was marked by normalization of serum calcium and PTH. The pathology was in favor of a parathyroid carcinoma. The diagnosis of parathyroid carcinoma is usually established by the combination of radiological and histological signs. The severity of this pathology is due to severe hypercalcemia and the risk of recurrence and distant metastasis that justify prolonged surveillance.","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"84 5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132150645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correlation between Ultrasound, Cytology and Anatomo Pathology in Thyroid Nodules","authors":"Gabriela Mintegui","doi":"10.54026/cjct/1011","DOIUrl":"https://doi.org/10.54026/cjct/1011","url":null,"abstract":"Introduction: Surgical pathologies of the thyroid are frequent; essential tools for its assessment constitute ultrasound, Fine Needle Aspiration (FNA), and Pathological Anatomy (PA) of the resected sample. Objective: To determine the correlation between sonographic, cytological and pathological findings of thyroid nodules in years. Materials and methods: Observational, descriptive and retrospective study of thyroidectomized patients between 2010 and 2014 at Clinical’s Hospital-Uruguay. Results: Sixty-seven patients, 59 women and 8 men, with a mean age of 45 ± 16 years. According to ultrasound findings, the majority corresponded to EU-TIRADS 3 (43%), followed by EU-TIRADS 4 (27%). According to Bethesda classification, the most frequent was indeterminate (48%), followed by benign (32%) and malignant (19%). 54% had benign PA and 46% malignant, papillary carcinoma was the most frequent (61%). Discussion: A significant association between EU-TIRADS 4-5 and the Bethesda classification was demonstrated. The finding of a probably benign (EU-TIRADS 3) or suspicious (EU-TIRADS 4) nodule, whose risk described in the literature of 2-4% and 6-17%, can hide a malignant tumor in up to 1/4 or 6 /10 cases respectively. Sensitivity of ultrasound was 74% and specificity 66%. The ultrasound elements significantly related to malignancy were the solid variant, hypoechoic and the presence of microcalcifications. Bethesda classification categories clearly associated with malignancy were IV, V, and VI. Conclusions: An adequate correlation was demonstrated to differentiate benignity from malignancy when comparing ultrasound findings of thyroid nodules with FNA and PA.","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128028437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Galactosemia a Disease that you Need to know","authors":"Yolanda Cifuentes C","doi":"10.54026/cjct/1010","DOIUrl":"https://doi.org/10.54026/cjct/1010","url":null,"abstract":"Galactosemia is an autosomal recessive disease, caused by the deficit of any of the four enzymes involved in the metabolism of galactose, derived from the disaccharide lactose, on its way to becoming glucose. Knowledge of this pathology and a high index of suspicion will allow early diagnosis and treatment, thus decreasing the associated complications and even mortality. We will present a brief summary of the disease in the context of a patient treated in our neonatology service.","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130292371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Late and Distant Metastases of Retinoblastoma to Long Bones: A Purpose of a Case","authors":"Luis Willians","doi":"10.54026/cjct/1013","DOIUrl":"https://doi.org/10.54026/cjct/1013","url":null,"abstract":"Is presented a 13 year old male patient case, with a history of Bilateral Retinoblastoma since 2 years old, performing enucleation of the right eye in June 2007, and salvage of the left eye by chemotherapy and radiotherapy, the patient 11 years after of first episode, presented metastasis in the distal end of the right radius, performing neoadjuvant and subsequent wide oncological resection with healthy margins of the distal end of the radius plus reconstruction with the ipsilateral proximal end of the fibula and wrist arthrodesis.","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122307026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Use of Biomarkers in Research with Nursing Personnel: A Narrative Review","authors":"Cristiane Aparecida Silveira","doi":"10.54026/cjct/1009","DOIUrl":"https://doi.org/10.54026/cjct/1009","url":null,"abstract":"Objective: To analyze studies with nursing personnel, with the use of biomarkers as an investigation method for the detection of health alterations. Method: This is a Narrative Literature Review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses methodology. The PICO strategy was used in this review’s development. For the search in databases and virtual libraries, the descriptor “Biomarkers” and the keywords “Nursing Personnel” and “Health Changes” were used in Portuguese, English, and Spanish. The search was carried out in scientific databases and articles related to the theme, published from 2002 to May 2022. Results: From 19 articles analyzed, it was found that the use of biological markers allowed the detection of problems such as higher values in capillary cortisol levels in a group of nurses with burnout when compared to those without burnout; cortisol levels on waking hours associated negatively with the number of years working and positively with damage to their DNA; occupational exposure to anesthetic gases that influence hepatic and renal hemochemical parameters in those exposed; irondeficiency anemia and different thyroid gland diseases prevalent among nurses when compared to those of controls matched by sex and age, chromosomal aberrations, and so forth. Conclusion: In general, if biomarkers assist in the identification of alterations in the health of nursing personnel and enable a significant contribution to occupational health and safety, a more holistic approach will be needed to transfer them from the laboratory to professional practice, especially to be used as a tool in the management of occupational health.","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132306639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fake News and the Covid-19 Pandemic: Repercussions on Nursing Assistance","authors":"Cristiane Aparecida Silveira, R","doi":"10.54026/cjct/1008","DOIUrl":"https://doi.org/10.54026/cjct/1008","url":null,"abstract":"Objective: To carry out a theoretical reflection on how fake news related to the COVID-19 pandemic had an impact on health and nursing care. Method: theoretical-reflective study about fake news related to the COVID-19 pandemic and the impact on health and nursing care. To search for articles/texts, the descriptors Fake News, COVID-19, Coronavirus Infections, Health Repercussions extracted from Descriptors in Health Sciences (DeCS) and Medical Subject Headings (MeSH) were used in Portuguese and English. and the keyword Repercussions in Nursing. The search took place in scientific databases and databases, with a thorough reading of articles related to the theme. Results and Discussion: Three guiding points/categories were elaborated to support the theoretical-reflective text of this article: “The Fake News in the COVID-19 pandemic”; “Some interferences of Fake News in the population”, with four subdivided categories and the last category “The impact on nursing care.” Final considerations: discrediting the recommendations of health professionals, especially nurses, had an impact on their health due to the stress they experienced, the disrespect and the violence they suffered, in the face of disbelief in relation to the correct guidelines that they verbalized and followed. It is understood that educational programs to stimulate critical thinking and online behavior are important strategies for the management of Fake News, helping to further prevent the dissemination of erroneous information about relevant topics related to the pandemic.","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115588768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rate of patient’s Recruitment and Recruitment Derivatives from the Perspectives of Internal factors - Protocol Study Nosology, Experience of Investigators and Potential Patient’s Pool of Sites","authors":"S. Milovanov","doi":"10.54026/cjct/1007","DOIUrl":"https://doi.org/10.54026/cjct/1007","url":null,"abstract":"The recruitment as a process found by many authors to be undergoing of many factors. There is a factors which are decreasing the recruitment and last data is reporting up to 80% trials failed due to law or even absence of recruitment on level of sites. But the factors are differently changing the recruitment. The final number of recruitment is static figure very well known, there is also known speed of recruitment which is calculating in the start of the study and these parameters along with others is quantitative evaluation of recruitment. We investigated the rate of recruitment in the light of some factors using parameters reflecting the recruitment progress of recruitment. Materials and Methods: Retrospective analysis of data of four clinical trials II-III phases in oncology and hematology, conducted since 2007 to 2017 years. Study objectives: to investigate the study recruitment rate using different parameters and its changes along with acting of internal factors; to develop new parameters which could be sensitive for evaluation of factor’s action. Statistical analysis: data had been collected from feasibility questionnaires, open statistical sources. Results: It was determined rate of recruitment and its derivatives where was acting an internal factor. Discussion: Recruitment been undergone the internal factors. The way of action is multidirectional and could boost the recruitment and in opposite to decrease one and knowing it is important in success of recruitment and clinical trial itself eventually","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127811764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Calculation of Recruitment Which Were Proposed by Clinical Sites on Stage of Feasibility to Clinical Trial of II – III Phases","authors":"S. Milovanov","doi":"10.54026/cjct/1006","DOIUrl":"https://doi.org/10.54026/cjct/1006","url":null,"abstract":"Many of clinical trials failed due to absence of needed per protocol recruitment of patients. Recruitment of patients in centralized trials is announcing by PI of clinical sites during the feasibility stage. This is subjective decision of investigator based on integral approach like experience, incidence of disease and many other parameters. The objective approach like calculation is apparently needed for calculation of proposed recruitment on the stage of feasibility. Materials and methods: retrospective analysis data of four clinical trials II-III phases, conducted since 2007 to 2017 years. Aim: to find out the approach for calculation of proposed by sites the recruitment on particular study on the stage of feasibility. Statistical analysis: data had been collected from feasibility questionnaires, open statistical sources. Results: It was proposed the formula for calculation of proposed recruitment of patients on the stage of feasibility. Discussion: Recruitment of patients might be calculated which will decrease the number of failed clinical trials. We called the calculation “Calculated proposed recruitment of patients” - CPRP».","PeriodicalId":436742,"journal":{"name":"Corpus Journal of Clinical Trails (CJCT)","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123916196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}