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.
{"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}
Pub Date : 2021-06-30eCollection Date: 2021-04-01DOI: 10.15190/d.2021.10
Arjola Agolli, Zeynep Yukselen, Olsi Agolli, Mehrie H Patel, Kinal Paresh Bhatt, Luis Concepcion, John Halpern, Sabaa Alvi, Rafael Abreu
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.
{"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}
Background: 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.
Methods: 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.
Conclusion: 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.
{"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}
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.
{"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}
Pub Date : 2021-06-30eCollection Date: 2021-04-01DOI: 10.15190/d.2021.11
Radu Marian Florea, Camelia Madalina Sultana
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.
{"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}
Pub Date : 2021-06-26eCollection Date: 2021-04-01DOI: 10.15190/d.2021.7
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
Background: 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.
Methods: 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.
{"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
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.
{"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}
Background: In anticipated difficult airway, awake fiberoptic guided intubation should be the ideal plan of management. It requires sufficient upper airway anesthesia for patient’s comfort and cooperation. We compared the efficacy of ultrasound guided airway nerve blocks and ultrasonic nebulisation with lignocaine for airway anesthesia before performing awake fibreoptic guided intubation. Methods: This prospective, randomised study included sixty consenting adult patients of both genders (American Society of Anesthesiologists' physical status 1–3) with anticipated difficult airway undergoing surgery. Ultrasound guided airway nerve blocks group received ultrasound-guided bilateral superior laryngeal (1 ml of 2% lignocaine) and transtracheal recurrent laryngeal (2 ml of 2% lignocaine) airway nerve blocks and ultrasonic nebulisation with lignocaine group received ultrasonic nebulisation of 4 ml of lignocaine 4%. The primary outcome was to compare the time required to intubate, whereas the secondary outcomes were to compare cough reflex and gag reflex, hemodynamic changes, number of attempts required, and comfort score during awake fibreoptic guided intubation in both the groups. Results: The time taken for intubation was significantly lower in the ultrasound guided airway nerve blocks group 69.27±21.85 s than ultrasonic nebulisation with lignocaine group 92.43 ± 42.90 s (p = 0.015). Hemodynamic variables changed during the procedure but the values were comparable in both groups. There were no statistical differences in cough and gag reflexes, number of attempts, and comfort score in both groups. Conclusions: This study shows that significant lesser time required for performing awake fiberoptic intubation when patient received ultrasound guided airway nerve block in comparison to ultrasonic nebulisation for airway anaesthesia.
{"title":"Anaesthesia for Awake Fiberoptic Intubation: Ultrasound-Guided Airway Nerve Block versus Ultrasonic Nebulisation with Lignocaine.","authors":"Jharana Mohanta, Ajit Kumar, Ashutosh Kaushal, Praveen Talawar, Priyanka Gupta, Gaurav Jain","doi":"10.15190/d.2021.4","DOIUrl":"https://doi.org/10.15190/d.2021.4","url":null,"abstract":"Background: In anticipated difficult airway, awake fiberoptic guided intubation should be the ideal plan of management. It requires sufficient upper airway anesthesia for patient’s comfort and cooperation. We compared the efficacy of ultrasound guided airway nerve blocks and ultrasonic nebulisation with lignocaine for airway anesthesia before performing awake fibreoptic guided intubation. Methods: This prospective, randomised study included sixty consenting adult patients of both genders (American Society of Anesthesiologists' physical status 1–3) with anticipated difficult airway undergoing surgery. Ultrasound guided airway nerve blocks group received ultrasound-guided bilateral superior laryngeal (1 ml of 2% lignocaine) and transtracheal recurrent laryngeal (2 ml of 2% lignocaine) airway nerve blocks and ultrasonic nebulisation with lignocaine group received ultrasonic nebulisation of 4 ml of lignocaine 4%. The primary outcome was to compare the time required to intubate, whereas the secondary outcomes were to compare cough reflex and gag reflex, hemodynamic changes, number of attempts required, and comfort score during awake fibreoptic guided intubation in both the groups. Results: The time taken for intubation was significantly lower in the ultrasound guided airway nerve blocks group 69.27±21.85 s than ultrasonic nebulisation with lignocaine group 92.43 ± 42.90 s (p = 0.015). Hemodynamic variables changed during the procedure but the values were comparable in both groups. There were no statistical differences in cough and gag reflexes, number of attempts, and comfort score in both groups. Conclusions: This study shows that significant lesser time required for performing awake fiberoptic intubation when patient received ultrasound guided airway nerve block in comparison to ultrasonic nebulisation for airway anaesthesia.","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 1","pages":"e125"},"PeriodicalIF":0.0,"publicationDate":"2021-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39017448","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}
Kinal Bhatt, Arjola Agolli, Mehrie H Patel, Radhika Garimella, Madhuri Devi, Efrain Garcia, Harshad Amin, Carlos Domingue, Roberto Guerra Del Castillo, Marcos Sanchez-Gonzalez
Severe COVID-19 disease is associated with an increase in pro-inflammatory markers, such as IL-1, IL-6, and tumor necrosis alpha, less CD4 interferon-gamma expression, and fewer CD4 and CD8 cells, which increase the susceptibility to bacterial and fungal infections. One such opportunistic fungal infection is mucormycosis. Initially, it was debated whether a person taking immunosuppressants, such as corticosteroids, and monoclonal antibodies will be at higher risk for COVID-19 or whether the immunosuppresive state would cause a more severe COVID-19 disease. However, immunosuppressants are currently continued unless the patients are at greater risk of severe COVID-19 infection or are on high-dose corticosteroids therapy. As understood so far, COVID-19 infection may induce significant and persistent lymphopenia, which in turn increases the risk of opportunistic infections. It is also noted that 85% of the COVID-19 patients' laboratory findings showed lymphopenia. This means that patients with severe COVID-19 have markedly lower absolute number of T lymphocytes, CD4+T and CD8+ T cells and, since the lymphocytes play a major role in maintaining the immune homeostasis, the patients with COVID-19 are highly susceptible to fungal co-infections. This report is intended to raise awareness of the importance of early detection and treatment of mucormycosis and other fungal diseases, such as candidiasis, SARS-CoV-2-associated pulmonary aspergillosis, pneumocystis pneumonia and cryptococcal disease, in COVID-19 patients, to reduce the risk of mortality.
{"title":"High mortality co-infections of COVID-19 patients: mucormycosis and other fungal infections.","authors":"Kinal Bhatt, Arjola Agolli, Mehrie H Patel, Radhika Garimella, Madhuri Devi, Efrain Garcia, Harshad Amin, Carlos Domingue, Roberto Guerra Del Castillo, Marcos Sanchez-Gonzalez","doi":"10.15190/d.2021.5","DOIUrl":"10.15190/d.2021.5","url":null,"abstract":"<p><p>Severe COVID-19 disease is associated with an increase in pro-inflammatory markers, such as IL-1, IL-6, and tumor necrosis alpha, less CD4 interferon-gamma expression, and fewer CD4 and CD8 cells, which increase the susceptibility to bacterial and fungal infections. One such opportunistic fungal infection is mucormycosis. Initially, it was debated whether a person taking immunosuppressants, such as corticosteroids, and monoclonal antibodies will be at higher risk for COVID-19 or whether the immunosuppresive state would cause a more severe COVID-19 disease. However, immunosuppressants are currently continued unless the patients are at greater risk of severe COVID-19 infection or are on high-dose corticosteroids therapy. As understood so far, COVID-19 infection may induce significant and persistent lymphopenia, which in turn increases the risk of opportunistic infections. It is also noted that 85% of the COVID-19 patients' laboratory findings showed lymphopenia. This means that patients with severe COVID-19 have markedly lower absolute number of T lymphocytes, CD4+T and CD8+ T cells and, since the lymphocytes play a major role in maintaining the immune homeostasis, the patients with COVID-19 are highly susceptible to fungal co-infections. This report is intended to raise awareness of the importance of early detection and treatment of mucormycosis and other fungal diseases, such as candidiasis, SARS-CoV-2-associated pulmonary aspergillosis, pneumocystis pneumonia and cryptococcal disease, in COVID-19 patients, to reduce the risk of mortality.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 1","pages":"e126"},"PeriodicalIF":0.0,"publicationDate":"2021-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39017449","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}
On December 31, 2019, the Wuhan Municipal Health Commission reported an increase in the incidence of pneumonia from an unknown cause. Shortly after, SARS-CoV-19 was identified as the responsible coronavirus for the heavy progress of the disease, which can manifest itself distinctively in different individuals. Coronavirus Disease 2019 (COVID-19) triggered a pandemic because of its high contagiousness before COVID-19 associated symptoms actually appear. In response to the rapid and continuous spread of the virus around the globe governments have mobilized their forces to restrict contact and thus avoid further infection and invested significant resources in treatment and prevention strategies to tackle COVID-19. As a result, US FDA and EMA have granted emergency use authorization for two mRNA-based vaccines, namely the vaccines developed by BioNTech/Pfizer and Moderna, for use in the USA and Europe. Due to the existing critical situation, the stages of vaccine development and testing have probably never been gone through so fast as at present. Here, we are briefly commenting on these two vaccines with their benefits, advantages and limitations.
{"title":"First COVID-19 Vaccines Receiving the US FDA and EMA Emergency Use Authorization.","authors":"Andra Fortner, David Schumacher","doi":"10.15190/d.2021.1","DOIUrl":"https://doi.org/10.15190/d.2021.1","url":null,"abstract":"<p><p>On December 31, 2019, the Wuhan Municipal Health Commission reported an increase in the incidence of pneumonia from an unknown cause. Shortly after, SARS-CoV-19 was identified as the responsible coronavirus for the heavy progress of the disease, which can manifest itself distinctively in different individuals. Coronavirus Disease 2019 (COVID-19) triggered a pandemic because of its high contagiousness before COVID-19 associated symptoms actually appear. In response to the rapid and continuous spread of the virus around the globe governments have mobilized their forces to restrict contact and thus avoid further infection and invested significant resources in treatment and prevention strategies to tackle COVID-19. As a result, US FDA and EMA have granted emergency use authorization for two mRNA-based vaccines, namely the vaccines developed by BioNTech/Pfizer and Moderna, for use in the USA and Europe. Due to the existing critical situation, the stages of vaccine development and testing have probably never been gone through so fast as at present. Here, we are briefly commenting on these two vaccines with their benefits, advantages and limitations.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"9 1","pages":"e122"},"PeriodicalIF":0.0,"publicationDate":"2021-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38896885","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}