Showing posts with label variant. Show all posts
Showing posts with label variant. Show all posts

Thursday, 24 July 2025

Hand Book on Normal Anatomy, Anatomical Variants and Most Common Congenital Heart Defects: A Light House to Cardiac Surgeon | Book Publisher International

 

Cardiac diseases are widely prevalent worldwide and are the main causes of death especially in developing countries. So, knowledge of normal and variant along with congenital anomalies of the heart is essential for cardiologists. Clinicians due to their busy schedules, it is not possible for them to go through the entire literature to diagnose cardiac diseases. In this book, almost all the information related to the human heart is consolidated which will act as a ready reference to cardiologists easing them to diagnose the diseases easily.

Author(s) Details

Dr. Rajani Singh
Department of Anatomy, UP University of Medical Sciences Saifai, Etawah 206130, UP, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/mono/978-93-48006-35-6

Monday, 14 April 2025

Identification of Novel Pathogenic Variants in Tunisian Patients with Developmental and Epileptic Encephalopathy Using Targeted High Throughput Sequencing | Chapter 1 | Medical Science: Recent Advances and Applications Vol. 1

Background: In Tunisia, Developmental and epileptic encephalopathy (DEE) imposes a significant burden on the family and the healthcare system. However, data regarding the genetic basis of epilepsy in the country remains scarce.

Objective: The aim of this study was to develop a high-throughput sequencing panel for diagnosing developmental and epileptic encephalopathy in Tunisia and to determine the prevalence of disease-associated genes in this region.

Methods: A custom next-generation sequencing panel was created to analyze the coding sequences of 116 genes in individuals with developmental and epileptic encephalopathy from the Tunisian population. Segregation analysis and in silico assessments were performed to evaluate the pathogenicity of the identified variants.

Results: 12 pathogenic variants in the genes SCN1A, CHD2, CDKL5, SZT2, KCNT1, GNAO1, PCDH19, MECP2, GRIN2A, and SYNGAP1 in patients with developmental and epileptic encephalopathy were identified. Five of these variants are novel. Moreover, genetic results influenced treatment decisions for four of the patients.

Significance: This study represents the first report of a custom genetic panel for detecting variants associated with developmental and epileptic encephalopathy in the Tunisian population and the North African region (Tunisia, Egypt, Libya, Algeria, Morocco), achieving a diagnostic rate of 30%. The high-throughput sequencing panel significantly improved the positive diagnostic rate for developmental and epileptic encephalopathy in Tunisia, where the rate was previously less than 15% using Sanger sequencing. Both physicians and parents recognized the value of genetic testing in these cases.

 

Author (s) Details

Nagi B Kumar
Cancer Epidemiology Program, Population Sciences Division Genitourinary, Oncology and Breast Oncology Departments / Department of Oncologic Sciences, Moffitt Cancer Center, University of South Florida College of Medicine, 12902 Magnolia Drive, Tampa, FL 33612, USA.

 

Please see the book here:- https://doi.org/10.9734/bpi/msraa/v1/4243

Wednesday, 24 May 2023

Omicron: A Grim Reality Amidst COVID-19 | Chapter 2 | Novel Aspects on Pharmaceutical Research Vol. 2

 Since the disruption of bubonic plague Covid-19, that has killed in addition to 5.57 heap crowd general, the world has existed depressed for ancient times two and a half age. The spread of new coronavirus Omicron modifications after beginning, suspect, gamma, and accumulation of solid resumes. The virus, that was found in Botswana and South Africa in November, has spread briskly during the whole of the world in current weeks, outpacing some earlier popular coronavirus variant. When distinguished to other variations, Omicron has happened proved expected highly communicable and less approachable to vaccines. November 26, 2021, was when the omicron variant was top-secret as a variant of concern for one WHO (CDC, 2021) [1]. The aim of this study search out support a brief survey of what we then know about the Omicron bug and what more needs expected well-informed about allure various variations.

Author(s) Details:

Saima Mazhar,
Department of Periodontology, Bahria University Health Sciences, Pakistan.

Farzeen Tanwir,
Department of Periodontology, Bahria University Health Sciences, Pakistan.

Ayesha Mehwish,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Yasmeen Mahar,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Anum Baqar,
Department of Prosthodontics, Bahria University Health Sciences, Pakistan.

Maryam Faiz Quereshi,
Department of Anatomy, Western University of Health Sciences, Pomona, California, USA.

Areeba Younis,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Ariba Naveed,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Syed Wajahat Haseeb,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Mahail Khan,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Mariya Azam Khattak,
Department of Anatomy, Bahria University Health Sciences, Pakistan.

Please see the link here: https://stm.bookpi.org/NAPR-V2/article/view/10595

Friday, 10 September 2021

Study on the Diachronic Grammaticalization of Like and Its Variants from Corpus-linguistic Perspective | Chapter 9 | Modern Perspectives in Language, Literature and Education Vol. 8

 The goal of this study is to look into the diachronic history of the word "like" and its forms "likely," "like to," "feel like," and "would like to," among others, during the grammaticalization process. The varieties of "like" and their historical trend of grammaticalization are shown in statistics from the corpora BNC and COHA. The findings show that "like" has had a significant role in both lexical and grammatical functions throughout history. Furthermore, the varieties and collocations of the word "like" are the outcome of constant human-language interaction. The findings have far-reaching consequences for second-language instruction.

Author (S) Details

Qingliang Meng
Pinghu Teachers’ College, Jiaxing University, No. 888 Hongjia Road, Pinghu, Zhejiang 314200, P.R. China.School of Languages, Cultures and Linguistics, University College Dublin, Dublin 14, Dublin, Ireland.

View Book :- https://stm.bookpi.org/MPLLE-V8/article/view/3193