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Gestalt diagnosis of children with dysmorphism - Necessity for establishing genetic diagnostic approach 畸形儿童的格式塔诊断-建立遗传诊断方法的必要性
Pub Date : 2021-12-15 DOI: 10.26838/medrech.2021.8.6.571
Shaoli Sarker, M. Mahbub, A. Azam, H. Quaderi, S. I. Kanta, Fayaza Ahmad
Informed written consent was taken from parents of every patient to use the photograph and data for diagnostic and academic purposes. Results: Among total participants, 40% had severe cognitive delay 35% had a moderate delay, 25% had a mild cognitive delay, 70% had behavior problems and 55% had ASD and/or ADHD features. Seizure was present in 35% of patients. Among other comorbidities; speech and language delay were in 65%, motor delay was in 50%, vision impairment was in 10%, hearing impairment was in 15 %. Suspected cases were, Noonan syndrome: 4, Angelman syndrome: 3, Fragile X syndrome: 2, Kabuki syndrome: 2, Sotos syndrome: 2. Genetic diagnosis could be established in only 2 patients with suspected fragile X syndrome. Conclusion: The study emphasizes the necessity to approach gestalt diagnosis in syndromic children with IDD along with locally available low-cost genetic diagnostic facility thereby increasing the possibility of providing appropriate management and/or genetic counseling.
每位患者的家长都同意将照片和数据用于诊断和学术目的。结果:在所有参与者中,40%有严重认知延迟,35%有中度认知延迟,25%有轻度认知延迟,70%有行为问题,55%有ASD和/或ADHD特征。35%的患者出现癫痫发作。在其他合并症中;言语和语言迟缓占65%,运动迟缓占50%,视力障碍占10%,听力障碍占15%。疑似病例为:Noonan综合征4例,Angelman综合征3例,脆性X综合征2例,Kabuki综合征2例,Sotos综合征2例。仅有2例疑似脆性X综合征的患者可以进行基因诊断。结论:该研究强调了对患有IDD的综合征儿童进行完形诊断的必要性,以及当地可获得的低成本遗传诊断设施,从而增加了提供适当管理和/或遗传咨询的可能性。
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引用次数: 0
Comparisons of some functional and pasting properties of tiger nut (Cyperus esculentus) flours produced under different processing conditions 不同加工条件下虎坚果粉的一些功能和糊化性能的比较
Pub Date : 2021-12-13 DOI: 10.26838/medrech.2021.8.6.517
Ebabhamiegbebho Peter A., Olapade Abiodun A., Obomeghei Abdulkareem A.
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引用次数: 0
THE CHANGING IMMUNOHISTOCHEMICAL PROFILE OF BREAST CARCINOMAS IN NNEWI, SOUTH-EAST NIGERIA: OUR EXPERIENCE 尼日利亚东南部nnewi市乳腺癌免疫组织化学特征的变化:我们的经验
Pub Date : 2021-12-05 DOI: 10.26838/medrech.2021.8.6.566
Felix Menkiti, C. Ukah, I. Menkiti, C. Chigbo
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引用次数: 1
Premature rupture of membrane and perinatal outcome 胎膜早破与围产期结局
Pub Date : 2021-12-02 DOI: 10.26838/medrech.2021.8.6.570
Pratima Biswas, M. Manjuri, S. Rahman, Osman Goni
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引用次数: 0
Study of intraoperative challenges and early surgical outcome of phacoemulsification through temporal incision in patients with senile cataract at rural tertiary care hospital. 农村三级医院老年性白内障颞部切口超声乳化术的术中挑战及早期手术效果研究。
Pub Date : 2021-11-29 DOI: 10.26838/medrech.2021.8.6.569
Aditya Arage, S. Nigwekar, Gauri Badhe, P. Shah, Rucha Kacha, Rohit Aphale
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引用次数: 0
Axillary lymph node status according to location, size, number and grading among breast cancer patients in tertiary care hospitals, Bangladesh 孟加拉国三级医院乳腺癌患者腋窝淋巴结的位置、大小、数量和分级情况
Pub Date : 2021-11-20 DOI: 10.26838/medrech.2021.8.6.568
Azizur Rahman, K. Islam, M. Morshed, Shahnewas Anon, Nahida Shuma, M. Rassell
{"title":"Axillary lymph node status according to location, size, number and grading among breast cancer patients in tertiary care hospitals, Bangladesh","authors":"Azizur Rahman, K. Islam, M. Morshed, Shahnewas Anon, Nahida Shuma, M. Rassell","doi":"10.26838/medrech.2021.8.6.568","DOIUrl":"https://doi.org/10.26838/medrech.2021.8.6.568","url":null,"abstract":"","PeriodicalId":282906,"journal":{"name":"Medico Research Chronicles","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134266710","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
Sociodemographic status of hemorrhagic stroke patients: A study in a tertiary care hospital of Bangladesh 出血性中风患者的社会人口状况:孟加拉国一家三级医院的研究
Pub Date : 2021-11-16 DOI: 10.26838/medrech.2021.8.6.564
A. K. Hasan, M. Mandal, M. Moniruzzaman, Sajal kumar Shill, Yaunus Ali
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引用次数: 0
Magnesium sulfate versus fentanyl as an adjuvant with bupivacaine in supraclavicular brachial plexus block- A comparative study 硫酸镁与芬太尼辅助布比卡因治疗锁骨上臂丛阻滞的比较研究
Pub Date : 2021-11-10 DOI: 10.26838/medrech.2021.8.6.565
Md. Emdad Hossain, Panna Lal Saha, Saiful Mahmud Tusher, Md. Nazmus Sakeb Chowdhury, Sushmita Biswas, S. Nasrin, Halima Khanam, Sazia Afrin
{"title":"Magnesium sulfate versus fentanyl as an adjuvant with bupivacaine in supraclavicular brachial plexus block- A comparative study","authors":"Md. Emdad Hossain, Panna Lal Saha, Saiful Mahmud Tusher, Md. Nazmus Sakeb Chowdhury, Sushmita Biswas, S. Nasrin, Halima Khanam, Sazia Afrin","doi":"10.26838/medrech.2021.8.6.565","DOIUrl":"https://doi.org/10.26838/medrech.2021.8.6.565","url":null,"abstract":"","PeriodicalId":282906,"journal":{"name":"Medico Research Chronicles","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134574484","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
Fracture penis in a male in the seventh decade of life in a pandemic setting 大流行环境下男性70岁男性阴茎骨折
Pub Date : 2021-11-10 DOI: 10.26838/medrech.2021.8.6.561
S. Bodapati, Sivaramakrishna Bodapati, Indranuj Roy
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引用次数: 0
Prevalence and Characterization of Labial Cervical Vertical Groove in maxillary permanent Incisors: an observational, cross-sectional study 上颌恒切牙唇颈垂直沟的患病率和特征:一项观察性横断面研究
Pub Date : 2021-11-03 DOI: 10.26838/medrech.2021.8.5.563
Sonpimpale S., Prajakta Khairkar, Phadnaik Mangesh B., Yeltiwar Ramreddy K., Gaikwad Pramod K.
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引用次数: 0
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Medico Research Chronicles
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