Radu Razvan Mititelu, Carmen Valeria Albu, Manuela Violeta Bacanoiu, Vlad Padureanu, Rodica Padureanu, Gabriela Olaru, Ana-Maria Buga, Maria Balasoiu
{"title":"Homocysteine as a Predictor Tool in Multiple Sclerosis.","authors":"Radu Razvan Mititelu, Carmen Valeria Albu, Manuela Violeta Bacanoiu, Vlad Padureanu, Rodica Padureanu, Gabriela Olaru, Ana-Maria Buga, Maria Balasoiu","doi":"10.15190/d.2021.14","DOIUrl":"10.15190/d.2021.14","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a progressive and irreversible disease which affects the central nervous system (CNS) with still unknown etiology. Our study aimes to establish the homocysteine pattern that can predict the MS diseases progression and to identify a potential disease progression marker that can be easy to perform and non-invasive, in order to predict the diseases outcome. In order to achieve this goal, we included 10 adult RRMS subjects, 10 adult SPMS subjects and 10 age-matched healthy subjects. The homocysteine plasma level was measured using automated latex enhanced immunoassay and the cobalamin and folate measurements were performed using automated chemiluminescence immunoassay (CLIA). HCR was calculated by dividing the homocysteine plasma level by cobalamin plasma level. We found that the homocysteine level in plasma of both RRMS patients and SPMS group are significantly increased compared with the control group. There is a significantly higher concentration of homocysteine in SPMS group compared with the RRMS group. In addition, the HCR is significantly increased in SPMS compared with the RRMS group and is a very good index of disease severity.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 3","pages":"e135"},"PeriodicalIF":0.0,"publicationDate":"2021-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8601869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39652970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elisa A Liehn, Ana-Mihaela Lupan, Rodica Diaconu, Mihai Ioana, Ioana Streata, Catalin Manole, Alexandrina Burlacu
{"title":"Heart function assessment during aging in apolipoprotein E knock-out mice.","authors":"Elisa A Liehn, Ana-Mihaela Lupan, Rodica Diaconu, Mihai Ioana, Ioana Streata, Catalin Manole, Alexandrina Burlacu","doi":"10.15190/d.2021.15","DOIUrl":"https://doi.org/10.15190/d.2021.15","url":null,"abstract":"<p><strong>Background: </strong>Apolipoprotein (apo) E isoforms have strong correlations with metabolic and cardiovascular diseases. However, it is not clear if apoE has a role in development of non-ischemic cardiomyopathy. Our study aims to analyze the involvement of apoE in non-ischemic cardiomyopathy.</p><p><strong>Methods and results: </strong>Serial echo-cardiographic measurements were performed in old wildtype and apoE deficient (apoE-/-) mice. Morphological and functional cardiac parameters were in normal range in both groups at the age of 12 month. At the age of 18 months, both groups had shown ventricular dilation and increased heart rates. However, the apoE-/- mice presented signs of diastolic dysfunction by hypertrophic changes in left ventricle, due probably to arterial hypertension. The right ventricle was not affected by age or genotype. CONCLUSION: Even in the absence of high fat diet, apoE deficiency in mice induces mild changes in the cardiac function of the left ventricle during aging, by developing diastolic dysfunction, which leads to heart failure with preserved ejection fraction. However, further studies are necessary to conclude over the role of apoE in cardiac physiology and its involvement in development of heart failure.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 3","pages":"e136"},"PeriodicalIF":0.0,"publicationDate":"2021-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39765323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cytologic Categorization with Risk Stratification of Endoscopic Ultrasound-Guided Fine Needle Aspiration from Pancreatic Lesions Based on Guidelines of the Papanicolaou Society of Cytopathology: 12-Year Tertiary Care Experience.","authors":"Nilay Nishith, Ram Nawal Rao, Praveer Rai","doi":"10.15190/d.2021.13","DOIUrl":"https://doi.org/10.15190/d.2021.13","url":null,"abstract":"<p><strong>Background and aims: </strong>Pancreatic malignancy is an important cause of cancer mortality worldwide. Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) plays a crucial role in the pre-operative diagnosis of pancreatic lesions. In this study, we have analyzed the cytological spectrum of pancreatic lesions in the Indian population over 12 years, categorized them according to the Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology (PSCPC), and assessed the risk of malignancy (ROM) for each of the categories.</p><p><strong>Methods: </strong>A computerized data search from January 2008 to December 2019 revealed 581 pancreatic EUS-FNA samples, among which surgical follow-up was available for 73 cases. All cytological specimens were reviewed and prospectively classified into one of the six diagnostic categories proposed by the PSCPC. Subsequently, a cytohistological correlation was performed and the ROM was calculated for each category.</p><p><strong>Results: </strong>The cytologic diagnoses included 50 nondiagnostic (category I), 175 negative for malignancy (category II), 19 atypical (category III), 27 neoplastic:benign (category IVA), 30 neoplastic:other (category IVB), 26 suspicious (category V), and 254 malignant (category VI) cases. ROM for non-diagnostic aspirates, nonneoplastic benign specimens, atypical cases, neoplastic:benign, neoplastic:other, suspicious for malignancy, and the malignant category was 16.7%, 7.1%, 33.3%, 0.0%, 20.0%, 100%, and 78.6%, respectively.</p><p><strong>Conclusion: </strong>We document an increased risk of malignancy from category I to category VI of the PSCPC. The malignancy risk for category VI (malignant) was statistically significant in our study but was lower in comparison to the values reported by other authors. Nonetheless, such an approach would establish transparent communication between the pathologist and the clinician, as well as aid the clinician in decision making, particularly in intermediate categories.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 3","pages":"e134"},"PeriodicalIF":0.0,"publicationDate":"2021-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39765321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Macro Photography with Lightsheet Illumination Enables Whole Expanded Brain Imaging with Single-cell Resolution.","authors":"Chia-Ming Lee, Xuejiao Tian, Chieh Tsao, Peilin Chen, Tzyy-Nan Huang, Yi-Ping Hsueh, Bi-Chang Chen","doi":"10.15190/d.2021.12","DOIUrl":"https://doi.org/10.15190/d.2021.12","url":null,"abstract":"<p><p>Macro photography allows direct visualization of the enlarged whole mouse brain by a combination of lightsheet illumination and expansion microscopy with single-cell resolution. Taking advantage of the long working distance of a camera lens, we imaged a 3.7 cm thick, transparent, fluorescently-labeled expanded brain. In order to improve 3D sectioning capability, we used lightsheet excitation confined as the depth of field of the camera lens. Using 4x sample expansion and 5x optical magnification, macro photography enables imaging of expanded whole mouse brain with an effective resolution of 300 nm, which provides the subcellular structural information at the organ level.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 3","pages":"e133"},"PeriodicalIF":0.0,"publicationDate":"2021-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8626140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39793175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Arjola Agolli, Zeynep Yukselen, Olsi Agolli, Mehrie H Patel, Kinal Paresh Bhatt, Luis Concepcion, John Halpern, Sabaa Alvi, Rafael Abreu
{"title":"SARS-CoV-2 effect on male infertility and its possible pathophysiological mechanisms.","authors":"Arjola Agolli, Zeynep Yukselen, Olsi Agolli, Mehrie H Patel, Kinal Paresh Bhatt, Luis Concepcion, John Halpern, Sabaa Alvi, Rafael Abreu","doi":"10.15190/d.2021.10","DOIUrl":"https://doi.org/10.15190/d.2021.10","url":null,"abstract":"<p><p>First case of COVID-19 was reported in Wuhan, China in December 2019. As of now, May 2021, a total of 164,189,004 people were infected, and 3,401,990 deaths have occurred caused by SARS-CoV-2. As SARS-CoV-2 virus cell entry mainly depends on the ACE2 and TMPRSS2 proteins, the presence of high expression levels of both ACE2 and TMPRSS2 in testes highlights the possible vulnerability of men to the virus. Other RNA viruses frequently induce orchitis and result in male infertility. This review evaluates the decline in male fertility and a total of 48 original articles were included for the analysis. We investigated the effects of COVID-19 on male reproductive health and male fertility. There is a strong association between the high number of ACE2 receptors in the testes and the COVID-19 viral loads. SARS-CoV-2 infection negatively affects the male reproductive tract. Human biological tissues, including body fluids and excretions, tissues, and organs showed positive results tests for SARS-CoV-2. A disruption in the balance of male reproductive system hormones is also observed. Male gonads may be potentially vulnerable to SARS-CoV-2 infection, suggesting caution to follow-up and evaluate infected men that have plans to conceive. Further studies are required to determine if this impairment is temporary or permanent, elucidate SARS-CoV-2's entrance strategies into the testis and how it can affect the semen quality and quantity. We recommend a post-infection follow-up, especially in male patients of reproductive age already having fertility issues.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 2","pages":"e131"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39765324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Information technology-based joint preoperative assessment, risk stratification and its impact on patient management, perioperative outcome, and cost.","authors":"Habib Md Reazaul Karim, Subrata Kumar Singha, Praveen Kumar Neema, Tridip Dutta Baruah, Rubik Ray, Debajyoti Mohanty, Md Sabah Siddiqui, Rachita Nanda, Narendra Kuber Bodhey","doi":"10.15190/d.2021.9","DOIUrl":"https://doi.org/10.15190/d.2021.9","url":null,"abstract":"<p><strong>Background: </strong> Despite negative recommendations, routine preoperative testing practice is nearly universal. Our aim is to bring the healthcare providers on one platform by using information-technology based preanaesthetic assessment and evaluate the routine preoperative testing's impact on patient outcome and cost.</p><p><strong>Methods: </strong>A prospective, non-randomised study was conducted in a teaching hospital during January 2019-August 2020. A locally developed software and cloud-computing were used as a tool to modify preanaesthesia evaluation. The number of investigations ordered, time taken, cost incurred, were compared with the routine practice. Further data were matched as per surgical invasiveness and the patient's physical status. Appropriate tests compared intergroup differences and p-value <0.05 was considered significant. Results: Data from 114 patients (58 in routine and 56 in patient and surgery specific) were analysed. Patient and surgery specific investigation led to a reduction in the investigations by 80-90%, hospital visit by 50%, and the total cost by 80%, without increasing the day of surgery cancellation or complications.</p><p><strong>Conclusion: </strong>Information technology-based joint preoperative assessment and risk stratification are feasible through locally developed software with minimal cost. It helps in applying patient and surgery specific investigation, reducing the number of tests, hospital visit, and cost, without adversely affecting the perioperative outcome. The application of the modified method will help in cost-effective, yet quality and safe perioperative healthcare delivery. It will also benefit the public from both service and economic perspective.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 2","pages":"e130"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8627278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39947964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"COVID-19 pandemic and antimicrobial resistance in developing countries.","authors":"Abdul Rehman Arshad, Farhat Ijaz, Mishal Shan Siddiqui, Saad Khalid, Abeer Fatima, Rana Khurram Aftab","doi":"10.15190/d.2021.6","DOIUrl":"https://doi.org/10.15190/d.2021.6","url":null,"abstract":"<p><p>A wide range of antimicrobial agents were touted as potential remedies during the COVID-19 pandemic. While both developed and developing countries have recorded an increase in the use of antimicrobial drugs, use and misuse have occurred to a far greater degree in developing countries. This can have deleterious consequences on antimicrobial resistance, especially when various developing countries have already reported the emergence of various drug-resistant organisms even before the pandemic. Telemedicine services, societal and cultural pressures, and bacterial co-infections can predispose to overwhelming antimicrobial prescriptions. The emergence of new multidrug resistance species is a major concern for the developing world especially since health services are already overburdened and lack the diagnostic capabilities and basic amenities for infection prevention and control. This can lead to outbreaks and the rampant spread of such microorganisms. Improper waste management and disposal from hospitals and communities establish freshwater runoffs as hubs of various microorganisms that can predispose to the rise of multidrug-resistant species. Microplastics' ability to act as vectors for antibiotic-resistant organisms is also particularly concerning for lower-middle-income countries. In this review, we aim to study the impact of antimicrobial use during the COVID-19 pandemic and antimicrobial resistance in lower middle-income countries, by understanding various determinants of resistance unique to the developing world and exploring solutions to combat the problem.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 2","pages":"e127"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39605676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"COVID-19 and breastfeeding: can SARS-CoV-2 be spread through lactation?","authors":"Radu Marian Florea, Camelia Madalina Sultana","doi":"10.15190/d.2021.11","DOIUrl":"https://doi.org/10.15190/d.2021.11","url":null,"abstract":"<p><p>SARS-CoV-2 is a new betacoronavirus that was first reported in the Hubei province, China, in December 2019. The virus is likely transmitted through air droplets. However, there are reported cases where SARS-CoV-2-RNA was found in other samples, such as blood or stool. Nonetheless, there is limited information concerning the presence of viral RNA in pregnancy-related samples, specifically breast milk. However unlikely, there is still uncertainty regarding the possibility of vertical transmission from mother to infant through breastfeeding. This review aims to synthetize the literature written so far on this topic. Despite not being extensively researched, vertical transmission through breast milk seems unlikely. Case series showed that milk samples from mothers with COVID-19 were almost entirely negative. So far, there have been only 9 recorded cases of viral shedding in milk samples, uncertain however of the viability of the particles. Furthermore, WHO and UNICEF strongly encourage commencing breastfeeding after parturition, underlining the benefits of lactation. Moreover, some studies have proven the existence of IgG and IgA anti-SARS-CoV-2-antibodies in the maternal milk that could possibly play an important part in the neonate's protection against the virus. Vertical transmission through lactation seems unlikely, most studies pointing towards the safety of breastfeeding. However, further larger-scale studies need to be performed in order to clarify a yet uncertain matter.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 2","pages":"e132"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39605679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elibet Chávez-González, Arian Nodarse-Concepción, Ionuț Donoiu, Fernando Rodríguez-González, Raimundo Carmona Puerta, Juan Miguel Cruz Elizundia, Gustavo Padrón Peña, Ailed Elena Rodríguez-Jiménez
{"title":"Increased QRS duration and dispersion are associated with mechanical dyssynchrony in patients with permanent right ventricular apical pacing.","authors":"Elibet Chávez-González, Arian Nodarse-Concepción, Ionuț Donoiu, Fernando Rodríguez-González, Raimundo Carmona Puerta, Juan Miguel Cruz Elizundia, Gustavo Padrón Peña, Ailed Elena Rodríguez-Jiménez","doi":"10.15190/d.2021.7","DOIUrl":"https://doi.org/10.15190/d.2021.7","url":null,"abstract":"<p><strong>Background: </strong>Permanent right ventricular apical pacing may have negative effects on ventricular function and contribute to development of heart failure. We aimed to assess intra- and interventricular mechanical dyssynchrony in patients with permanent right ventricular apical pacing, and to establish electrocardiographic markers of dyssynchrony.</p><p><strong>Methods: </strong>84 patients (46:38 male:female) who required permanent pacing were studied. Pacing was done from right ventricular apex in all patients. We measured QRS duration and dispersion on standard 12-lead ECG. Intra- and interventricular mechanical dyssynchrony and left ventricular ejection fraction were assessed by transthoracic echocardiography. Patients were followed-up for 24 months. Results: Six months after implantation, QRS duration increased from 128.02 ms to 132.40 ms, p≤0.05. At 24 months, QRS dispersion increased from 43.26 ms to 46.13 ms, p≤0.05. Intra- and interventricular dyssynchrony increased and left ventricular ejection fraction decreased during follow-up. A QRS dispersion of 47 ms predicted left ventricular dysfunction and long-term electromechanical dyssynchrony with a sensitivity of 80% and a specificity of 76%. Conclusion: In patients with permanent right ventricular apical pacing there is an increased duration and dispersion of QRS related to dyssynchrony and decreased left ventricular ejection fraction. This study shows that QRS dispersion could be a better predictive variable than QRS duration for identifying left ventricular ejection fraction worsening in patients with permanent right ventricular apical pacing. The electrocardiogram is a simple tool for predicting systolic function worsening in these patients and can be used at the bedside for early diagnosis in the absence of clinical symptoms, allowing adjustments of medical treatment to prevent progression of heart failure and improve the patient's quality of life.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 2","pages":"e128"},"PeriodicalIF":0.0,"publicationDate":"2021-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8627190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39947962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Khushnooda Ramzan, Maha Alotaibi, Rozeena Huma, Sibtain Afzal
{"title":"Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.","authors":"Khushnooda Ramzan, Maha Alotaibi, Rozeena Huma, Sibtain Afzal","doi":"10.15190/d.2021.3","DOIUrl":"https://doi.org/10.15190/d.2021.3","url":null,"abstract":"<p><p>Osteogenesis imperfecta is a clinically and genetically group of heterogeneous disorders associated with decreased bone density, brittle bones, bone deformity, recurrent fractures, and growth retardation. Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2). Mutations in other genes, some associated with type I collagen post-translational processing, have also been identified as the cause of osteogenesis imperfecta. Mutations in the transmembrane protein 38B (TMEM38B) gene have been reported in a rare autosomal recessive form of osteogenesis imperfecta. TMEM38B encodes TRIC-B - a trimeric intracellular cation channel type B which is essential to modulate intracellular calcium signaling. In this study, we are reporting a case of osteogenesis imperfecta type XIV from a Saudi consanguineous family. Our patient was an eight-month-old child with short limbs, club feet, and lower limb deformities with developmental delay. Radiological findings were consistent with the evidence of osteogenesis imperfecta. There was no evidence of impaired hearing or blue sclera and based on the clinical assessment, we classified our patient as a non-syndromic osteogenesis imperfecta. A pathogenic deletion in the chromosome 9q31.2 region, partially encompassing the TMEM38B gene, was detected using chromosomal microarray analysis. This study expands our knowledge about the rare type of osteogenesis imperfecta in our consanguineous population. Besides, it emphasizes the use of genomic medicine in clinical practices to formulate early interventions to clinically improve the patient's condition.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 1","pages":"e124"},"PeriodicalIF":0.0,"publicationDate":"2021-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39017447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}