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Immunohistochemical studies of codeine medication on the prefrontal cortex and cerebellum of adult Wistar rats 可待因给药对成年Wistar大鼠前额皮质和小脑的免疫组化研究
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1824390
V. Archibong, T. Ekanem, A. Igiri, Ann Monima Lemuel, I. Usman, A. Okesina, N. J. Obosi
{"title":"Immunohistochemical studies of codeine medication on the prefrontal cortex and cerebellum of adult Wistar rats","authors":"V. Archibong, T. Ekanem, A. Igiri, Ann Monima Lemuel, I. Usman, A. Okesina, N. J. Obosi","doi":"10.1080/2331205X.2020.1824390","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1824390","url":null,"abstract":"Abstract Despite the dangers associated with the increased use of prescription opioid drugs, limited researches have addressed the specific effects of prescription opioids on the brain. The objective of this study was to assess the effects of codeine medication on the prefrontal cortex and cerebellum of Wistar rats. The drugs, ArchilinTM with codeine syrup and Dihydrocodeine 30 mg tablets were used for this study. Thirty (30) male Wistar rats were divided into 5 groups labeled A, B, C, D, and E, n = 6. Group A served as control and was given normal saline, group B was treated with 1 mg/kg bodyweight dihydrocodeine, group C was treated with 2 mg/kg bodyweight dihydrocodeine, group D was treated with 2 ml/kg bodyweight ArchilinTM with codeine syrup and group E was treated with 4 ml/kg bodyweight ArchilinTM with codeine syrup. Drugs were administered orally and daily for 21 days. At the end of the treatment period, animals were sacrificed via intraperitoneal injection of ketamine hydrochloride, brains were perfused with phosphate-buffered saline and formal saline before harvested and postfixed in 10% neutral buffered formalin. Sections of the prefrontal cortex and cerebellum were obtained and processed for immunohistochemical studies using GFAP stain. Results from the study suggested that prolonged administration of codeine medication produced an inflammatory reaction in the prefrontal cortex and cerebellum of treatment groups. This neuroinflammatory reaction is an indicator of a pathologic process that could lead to neuronal degeneration, glial degeneration, and altered physiologic process in the prefrontal cortex and cerebellum.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"61 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73290765","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}
引用次数: 7
Factors influencing utilization of intra-uterine device among postpartum mothers at Gombe Hospital, Butambala disrtict, Uganda 乌干达布坦巴拉区贡贝医院产后母亲使用宫内节育器的影响因素
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1846264
Kizito Omona, Winnifred Namuli
{"title":"Factors influencing utilization of intra-uterine device among postpartum mothers at Gombe Hospital, Butambala disrtict, Uganda","authors":"Kizito Omona, Winnifred Namuli","doi":"10.1080/2331205X.2020.1846264","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1846264","url":null,"abstract":"Abstract Abstract:  The most effective modern family planning method is long-acting reversible contraceptives (LARCs), including intra-uterine contraceptive devices (IUCD). It has multiple advantages over other reversible methods. Despite all known advantages of IUCD, its uptake is still low in Uganda. The purpose was to determine the factors influencing the utilization of intra-uterine contraceptive device among postpartum mothers. A facility-based cross-sectional analytical design was used. 202 Postpartum mothers were sampled and interviewed. Key informants interviews and FGDs were held. Out of 202 post-partum mothers, the prevalence of IUCD utilization was low at 16.3%. Knowledge level at was 55.9%. Education of mothers significantly influenced utilization (X2 (3) = 28.22, p = <0.001) with primary education and secondary education being 10 times more likely (COR = 9.67, 95%CI (2.639–35.411)) and 6 times more likely (COR = 6.17, 95%CI (2.234–17.023) to influence IUCD utilization, respectively. Occupation of mothers also influenced utilization (p < 0.000). Most of the mothers were skilled laborers and yet they were less likely to utilize IUCD compared to non-skilled counterparts (COR = 0.19 95%CI: 0.082–0.431). Culture influenced utilization of IUCD (X2 (1) = 18.22, p = 0.007). Healthcare providers should build the capacity of community health workers to promote effective community awareness about IUCD and its advantages. This will increase uptake.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"175 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79729063","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}
引用次数: 7
Prescription and efficacy of daclatasvir and sofosbuvir ± ribavirin for hepatitis C infection, including patient-reported outcomes, in routine practice in three European countries: The CMPASS-EU cohort study 在三个欧洲国家的常规实践中,daclatasvir和索非布韦±利巴韦林治疗丙型肝炎感染的处方和疗效,包括患者报告的结果:cmpas - eu队列研究
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1727169
S. Bourgeois, K. J. Erpecum, J. Delwaide, Ulrike Naumann, S. Christensen, Christophe Moreno, A. Pathil, E. Schippers, Nancy van Emmerik, Benoit Caritey, C. Fischer, F. Mercier, J. Petersen
{"title":"Prescription and efficacy of daclatasvir and sofosbuvir ± ribavirin for hepatitis C infection, including patient-reported outcomes, in routine practice in three European countries: The CMPASS-EU cohort study","authors":"S. Bourgeois, K. J. Erpecum, J. Delwaide, Ulrike Naumann, S. Christensen, Christophe Moreno, A. Pathil, E. Schippers, Nancy van Emmerik, Benoit Caritey, C. Fischer, F. Mercier, J. Petersen","doi":"10.1080/2331205X.2020.1727169","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1727169","url":null,"abstract":"Abstract Prescription and efficacy of daclatasvir and sofosbuvir ± ribavirin, including patient-reported outcomes, in routine practice in three European countries: the CMPASS-EU cohort study. Objectives: To identify patient characteristics associated with routine prescription of daclatasvir (DCV) in chronic hepatitis C virus (HCV) infection and evaluate effectiveness, safety and quality-of-life (QoL) changes for DCV-based regimens. Methods: A prospective, observational cohort study in Germany, Belgium and the Netherlands collected baseline data from all patients initiating a new HCV regimen, with 12-month follow-up of DCV-based treatments. Baseline predictors of prescription, longitudinal efficacy, and patient-reported QoL outcomes (EQ-5D, EQ-VAS and SF-36 global physical/mental health) on DCV were assessed. Results: Of 914 patients analyzed, 470 were prescribed DCV (469 with sofosbuvir [SOF] ± ribavirin [RBV]) and 444 non-DCV regimens. A high proportion prescribed DCV were cirrhotic (36%) and/or illicit drug users (IDU; 24%). Multivariate predictors of DCV treatment included genotype 3 infection (odds ratio 85.9 [95% confidence interval 43.5–170]), age ≥65 years (2.0 [1.2–3.3]), and cirrhosis (3.3 [2.0–5.3]). Sustained virologic response on DCV+SOF±RBV (observed) was 96–100% across subgroups of IDU, HIV co-infection, HCV genotype and cirrhosis status. Statistically significant improvements in all QoL outcomes were observed over 12 months of DCV+SOF±RBV irrespective of RBV use or cirrhosis status, but IDU had no change in SF-36 global mental health although other outcomes improved. Conclusions: In this cohort, DCV+SOF±RBV was efficacious for HCV treatment across a range of subgroups and associated with QoL improvements.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"833 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79890472","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}
引用次数: 0
Ultrasound-guided injections of amniotic membrane/umbilical cord particulate for painful neuropathy of the lower extremity 超声引导下羊膜/脐带颗粒注射治疗下肢神经性疼痛
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1724067
Ahmed Bilal Buksh
{"title":"Ultrasound-guided injections of amniotic membrane/umbilical cord particulate for painful neuropathy of the lower extremity","authors":"Ahmed Bilal Buksh","doi":"10.1080/2331205X.2020.1724067","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1724067","url":null,"abstract":"Abstract Treatment of peripheral neuropathy remains a challenge. It has been shown clinically that cryopreserved human amniotic membrane (AM) and umbilical cord (UC) reduce pain, and they may serve as a beneficial treatment option for peripheral neuropathy. Here, we report findings from a single-center, retrospective review of peripheral neuropathy patients treated with AM/UC particulate. Seventeen patients with recalcitrant diabetic (n = 8), idiopathic (n = 7), or chemotherapy-induced peripheral neuropathy (n = 2) were included in the study. At presentation, all 17 patients complained of pain, along with numbness (n = 10), paresthesia (n = 8), poor balance (n = 9), poor range of motion (n = 5), or weakness (n = 7). After an average of 2.7 injections of AM/UC particulate per extremity, symptoms improved by 30.0 ± 24.5% at 1 week, 46.6 ± 29.9% at 1 month (P < .005), 70.7 ± 14.3% at 2 months (P < .001), 72.3 ± 16.9% at 3 months (P < .001), and 61.0 ± 34.4% at 5–6 months (P < .01). No complications or adverse events related to AM/UC injection were observed. These results suggest local perineural injection of AM/UC particulate may reduce pain and alleviate symptoms in patients suffering from painful peripheral neuropathy of the lower extremities.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"126 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77380444","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}
引用次数: 2
Are athletes ready to return to competitive sports following ACL reconstruction and medical clearance? 在ACL重建和医疗检查后,运动员准备好重返竞技体育了吗?
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1723822
Dave Schilling, A. Radwan
{"title":"Are athletes ready to return to competitive sports following ACL reconstruction and medical clearance?","authors":"Dave Schilling, A. Radwan","doi":"10.1080/2331205X.2020.1723822","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1723822","url":null,"abstract":"Abstract Return to sports after anterior cruciate ligament reconstruction (ACLR) is often based on medical clearance and the rehabilitation teams’ decision regarding the physical readiness of athletes. However, re-injury and contralateral injuries are increasing. The purpose of the study was to assess the readiness for return to sport in a sample of division III athletes following ACL reconstruction. Twenty-one collegiate athletes (7 males and 14 females) with ACLR and medical clearance to return to sport were recruited. The functional performance of the athletes and the symmetry of both lower extremity measures were evaluated using motion/force-plate analysis, balance, core strength/endurance and functional knee performance testing. Athlete performance reports were provided with training suggestions. The operated lower extremities had a significant decrease in vertical ground reaction force, less knee flexion and more valgus during a single-leg landing task, lower balance scores and reduced hop distance for the majority of participants. Participants continued to show a reduction in operated legs’ performance despite being medically cleared for sports. Lasting deficiencies and their magnitude may explain the increased tendencies for re-injury following ACLR as reported in the literature. Safe return to sport following ACLR should be based on achieving symmetry of performance of lower extremities. A thorough assessment of an athlete’s performance using a comprehensive examination can identify deficiencies and can be used to guide clinical decision-making.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"21 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91498041","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}
引用次数: 1
Needs and treatment options in chronic traumatic brain injury: A feasibility trial of a community-based intervention 慢性创伤性脑损伤的需求和治疗选择:社区干预的可行性试验
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1731222
I. Borgen, M. Løvstad, C. Røe, M. Forslund, S. Hauger, S. Sigurdardottir, L. Winter, Ingerid Kleffelgård
{"title":"Needs and treatment options in chronic traumatic brain injury: A feasibility trial of a community-based intervention","authors":"I. Borgen, M. Løvstad, C. Røe, M. Forslund, S. Hauger, S. Sigurdardottir, L. Winter, Ingerid Kleffelgård","doi":"10.1080/2331205X.2020.1731222","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1731222","url":null,"abstract":"Abstract Lifelong changes may be expected after sustaining a traumatic brain injury (TBI). Research on relevant treatment options in the chronic phase of TBI is lacking. An innovative, home-based intervention program was developed in the US and showed to be effective among US veterans who had sustained a TBI. However, the cross-cultural applicability and effectiveness are unknown. The aim of the present study is to evaluate the feasibility in a Norwegian population before a future definitive randomized controlled trial (RCT). Six participants with severe TBI in metropolitan Oslo, Norway, were recruited and received the intervention. Primary feasibility objectives were to evaluate (i) recruitment and screening procedures, (ii) baseline and follow-up assessments, (iii) intervention delivery, (iv) acceptability, and (v) order of primary and secondary outcome measures. No adverse effects of the intervention were uncovered. Baseline assessment was found to be too long. Intervention delivery was feasible and acceptability high. Outcome measures were reviewed and amendments were deemed necessary. An individually tailored, goal-focused intervention program was deemed feasible in a population of severe TBI and the preliminary results seem promising. The feasibility trial led to important amendments to inclusion criteria, baseline assessment and outcome measures that were adapted before the RCT study commenced. The RCT-study started recruitment in June 2018.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"151 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87574089","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}
引用次数: 2
Socio-Cultural Factors Associated with Incomplete Routine Immunization of Children _ Amach Sub-County, Uganda 与儿童常规免疫不完全相关的社会文化因素_乌干达阿马奇县
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205x.2020.1848755
Omike Jillian, O. Kizito
{"title":"Socio-Cultural Factors Associated with Incomplete Routine Immunization of Children _ Amach Sub-County, Uganda","authors":"Omike Jillian, O. Kizito","doi":"10.1080/2331205x.2020.1848755","DOIUrl":"https://doi.org/10.1080/2331205x.2020.1848755","url":null,"abstract":"Abstract Immunization is one of the worlds’s most cost-effective health interventions that help prevent childhood diseases. However, many infants are not usually fully vaccinated especially in developing countries. This contributes to the mortality of Vaccine-Preventable Diseases (VPD) in children. The study examined the socio-cultural factors that are associated with incomplete routine immunization of children aged 0–1 year old in Amach Sub-County, Lira District _ Uganda. An analytical cross-sectional-mixed study among a sample of 326 parents and three health workers were made. Simple random sampling and purposive techniques were used to select the respondents. In-depth interviews, focus group discussion and Interviewer administered questionnaires were used to collect data. A modified Poisson regression model was used to compute the prevalence ratios. Variables were analyzed at bivariate and multivariate levels for their association with incomplete immunization. Incomplete immunization was at 27.3%. Marital status (p = 0.05), wealth level (p = 0.001), and side effects of vaccines was found to be associated with incomplete routine immunization. Age, occupation, education, religion, utilization of other health services, family structure, and support, gender, accessibility, and health education were not found to be associated with incomplete routine immunization. Incomplete immunization rate is quite high in Amach Sub-county.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74306410","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}
引用次数: 6
Determinants of time to recovery from obstetric fistula by using the data of university of Gondar teaching hospital fistula center, Gondar –Ethiopia: A parametric survival regression analysis 利用贡德尔-埃塞俄比亚贡德尔大学教学医院瘘管中心的数据研究产科瘘恢复时间的决定因素:参数生存回归分析
Cogent Medicine Pub Date : 2020-01-01 DOI: 10.1080/2331205X.2020.1816259
E. A. Derso, Salie Ayalew, Aragaw Eshete, Mequanent Wale
{"title":"Determinants of time to recovery from obstetric fistula by using the data of university of Gondar teaching hospital fistula center, Gondar –Ethiopia: A parametric survival regression analysis","authors":"E. A. Derso, Salie Ayalew, Aragaw Eshete, Mequanent Wale","doi":"10.1080/2331205X.2020.1816259","DOIUrl":"https://doi.org/10.1080/2331205X.2020.1816259","url":null,"abstract":"Abstract Abstract:  Obstetric fistula is the presence of a hole between a woman’s genital tract and either the urinary or the intestinal tract. Better knowledge of the risk factors for obstetric fistula could help in preventing its occurrence. The purpose of this study was to assess the characteristics of obstetric fistula patients. A retrospective and cohort study was used and 289 patients was taken from a hospital records. The study includes obstetric fistula patients who were recorded in the medical record room of cards which have the vital data and the patients with missing main data for the research were excluded. The results from the Weibull regression model revealed that older ages at first marriage, weight < 50 kg, height of > 150 cm, follow-up of antenatal care, delivery at health center, duration of labour for < 2 day, vaginal delivery, urban residence, accessing education, width of fistula < 5 cm, intact of urethra and duration of incontinent of urine <3 month significantly (p < 0.05) contribute to shorter stay in hospital to treated and physically cured than their counterparts. The average survival times of a patient stay in the hospital to treated and physically cured is 5.19 weeks. The finding of this study showed that age at first marriage, height, antenatal care, weight, place of delivery, mode of delivery, duration of labour, duration of incontinent of urine, educational status, residence width of fistula, and status of urethra were influential affecting recovery time of obstetric fistula patient at the Hospital.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88520271","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}
引用次数: 0
A comprehensive view to reflection on the palliative care approach for family medicine residents: A modified Delphi method 家庭医学住院医师缓和疗护方式之综合思考:修正德尔菲法
Cogent Medicine Pub Date : 2019-01-01 DOI: 10.1080/2331205X.2019.1704137
J. Hamano, Junji Haruta, Naoto Ishimaru, Takahiro Otsuka, Naoko Den, Keiichiro Sakato, Takuma Kimura, Ryo Yamamoto
{"title":"A comprehensive view to reflection on the palliative care approach for family medicine residents: A modified Delphi method","authors":"J. Hamano, Junji Haruta, Naoto Ishimaru, Takahiro Otsuka, Naoko Den, Keiichiro Sakato, Takuma Kimura, Ryo Yamamoto","doi":"10.1080/2331205X.2019.1704137","DOIUrl":"https://doi.org/10.1080/2331205X.2019.1704137","url":null,"abstract":"Abstract Effective reflection is essential to allow family medicine residents to cope with difficult and negative experiences during palliative care. We developed a multidisciplinary, consensus-based comprehensive view to reflection on the palliative care approach for family medicine residents. We used a modified Delphi method and a multidisciplinary panel to build a systematic consensus. We developed a prototype comprehensive view based on a literature review, cognitive flexibility theory, and discussion by the research team. The 12 panelists consisted of 8 physicians, 3 nurses, and 1 medical social worker. The final comprehensive view consisted of 11 situations and 6 viewpoints regarding patterns of rapid and intermittent functional decline, respectively, with a total of 508 statements. Six of the 11 situations were common to both illness trajectories, and there were 5 unique situations for each disease trajectory. The 6 viewpoints were physical evaluation, mental/psychological evaluation, social evaluation, spiritual evaluation, cooperation among multidisciplinary professionals, and professional judgment. A comprehensive view to reflection on the palliative care approach was developed for family medicine residents using a modified Delphi method with multidisciplinary input. This comprehensive view may help family medicine residents and faculty become more reflective practitioners through interactive communication.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75390477","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}
引用次数: 0
A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report - 29 A>G和IVS-I-1 G>A HBB基因突变导致叙利亚患者中β-地中海贫血的病例报告
Cogent Medicine Pub Date : 2019-01-01 DOI: 10.1080/2331205X.2019.1581448
Hossam Murad, Faten Moassas, Bashar Ali, W. Al-achkar
{"title":"A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report","authors":"Hossam Murad, Faten Moassas, Bashar Ali, W. Al-achkar","doi":"10.1080/2331205X.2019.1581448","DOIUrl":"https://doi.org/10.1080/2331205X.2019.1581448","url":null,"abstract":"Abstract Beta-thalassemia (β-thal) is an inherited hemoglobin disorder, characterized by the absence of or reduced hemoglobin chains that result in microcytic hypochromic anemia. In this case, we describe a patient case originating from Syria, and his hematology data were (Hb A1 = 12.5%, Hb F = 83.7, Hb A2 = 3.8%). The molecular analysis based on direct sequencing of the β-globin gene showed a rare combined heterozygous IVS-I-1 (G>A) (HBB:c.92+1 G>A)/−29 A > G (HBB:c.−79 A>G) causing β°/β+ thalassemia intermedia. Polymerase chain reaction–restriction fragment length (PCR–RFLP) method revealed that the patient had a homozygous (TT) for Xmn-1 locus. Our result showed the presence of rare β-thal (−29 A>G) mutation associated with IVS-I-1 (G>A). Our finding suggests the presence of this mutation resulted from old migrations.","PeriodicalId":10470,"journal":{"name":"Cogent Medicine","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74774615","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}
引用次数: 2
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