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

The Occurrence of the Pseudophyllidean, Spirometra Species, in a Tanzanian Dog with a Molecular Approach | Chapter 5 | Contemporary Research and Perspectives in Biological Science Vol. 6

Cestodes of the genus Spirometra are multi-host parasites that are causative agents of spirometrosis in domestic and wild carnivores and sparganosis in humans. In domestic animals, the infection is usually asymptomatic. This study investigated the Spirometra species obtained from a domestic dog from Tanzania. The polymerase chain reaction (PCR) was used for molecular identification of Spirometra. The amplicons derived from genomic DNA samples from a single adult worm were subjected to sequencing and compared with that of S. erinaceieuropaei. The gene arrangement in the mt genome sequences of S. erinaceieuropaei from Tanzania is identical. The identity of the mt genomes was 100% between S. erinaceieuropaei from Tanzania. The result of this study does not support earlier conclusions that Tanzanian Spirometra sp. is S. theileri. This is the first report of S. erinaceieuropaei in dogs from Tanzania.

 

Author (s) Details

 

N.J. Kavana
Department of Veterinary Microbiology and Parasitology, Faculty of Veterinary Medicine, Sokoine University of Agriculture, P.O. Box 3019, Morogoro, Tanzania and Department of Microbiology and Parasitology, Faculty of Medicine, St. Francis University College of Health and Allied Sciences Ifakara, Tanzania.

 

C.J. Kasanga
Department of Veterinary Microbiology and Parasitology, Faculty of Veterinary Medicine, Sokoine University of Agriculture, P.O. Box 3019, Morogoro, Tanzania.

 

A.A. Kassuku
Department of Veterinary Microbiology and Parasitology, Faculty of Veterinary Medicine, Sokoine University of Agriculture, P.O. Box 3019, Morogoro, Tanzania.

 

S. Parthasarathy
Department of Parasitology, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.

 

Y.L. Lau
Department of Parasitology, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.

 

M.Y. Fong
Department of Parasitology, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.

 

R. Mahmud
Department of Parasitology, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.

 

Please see the book here:- https://doi.org/10.9734/bpi/crpbs/v6/3107

Identifying New Species of Cassava Mosaic Begomovirus and Ageratum Leaf Curl Cameroon Virus on Pepper (Capsicum annuum L.) in Togo | Chapter 1| Innovations in Biological Science Vol. 7

 

The most damaging and economically important diseases of crops, especially in tropical and subtropical regions are caused by whitefly-transmitted begomoviruses. These viruses are included in the genus Begomovirus of the family Geminiviridae and are responsible for causing crop losses ranging from 30% to 100%. Cassava mosaic disease caused by the white fly transmitted begomoviruses (family Geminiviridae) is a major threat to cassava (Manihot esculenta Crantz) production, which can be intercropped with other plants such as pepper (Capsicum annuum L.). This study aims to identify cassava begomoviruses on other crops in cassava intercropping systems. Thus, foliar samples showing typical symptoms of virus diseases in cassava intercropping systems were collected from pepper and submitted to PCR analysis and direct sequencing. Total DNA was extracted from collected leaves using the DNA minipreparation method. Three begomovirus species ACMV, EACMV and ALCCMV were identified and characterized in samples. Isolates of these species shared respectively 90%, 93%, 74% and 80% nucleotide identities with begomoviruses. These findings show that cassava begomoviruses can infect other crops and will help in understanding the epidemiology related to white fly transmitted begomoviruses in cassava intercropping systems. The occurrence of new begomovirus species on pepper could lead in case of mixed infections with already known begomoviruses infecting this crop to recombinant actions. This study suggests a change in Bemisia tabaci population or its feed habit. Further investigations need to bring more information about cassava mosaic begomoviruses and their relationships with pepper.

 

Author(s) Details

 

Kodjovi Atassé Dansou Kodjo

Laboratory of Plant Virology and Biotechnology (LVBV), Ecole Supérieure d’Agronomie (ESA), University of Lome, Lomé, Togo and Laboratory of Agroecology, Ecophysiology and Integrative Biology (AEB), Unit EDYSAN FRE 3498 CNRS/University of Picardie Jules Verne, Amiens, France.

 

Assion Setu Mivedor

Laboratory of Plant Virology and Biotechnology (LVBV), Ecole Supérieure d’Agronomie (ESA), University of Lome, Lomé, Togo.

 

Kossikouma Djodji Adjata
Laboratory of Plant Virology and Biotechnology (LVBV), Ecole Supérieure d’Agronomie (ESA), University of Lome, Lomé, Togo.

 

Jerome Duclercq
Laboratory of Agroecology, Ecophysiology and Integrative Biology (AEB), Unit EDYSAN FRE 3498 CNRS/University of Picardie Jules Verne, Amiens, France.

 

Yawovi Mawuena Dieudonne Gumedzoe
Laboratory of Plant Virology and Biotechnology (LVBV), Ecole Supérieure d’Agronomie (ESA), University of Lome, Lomé, Togo.

 

Please see the link:- https://doi.org/10.9734/bpi/ibs/v7/7571C

Genomic and Proteomic: Concept and Application | Chapter 9 | Advanced Concepts in Medicine and Medical Research Vol. 3

 Genomics is the combining several branches of learning science to think the structure, function and progress of genes and their interactions by labeling, molecular characterization and replicating of whole genomes for the ultimate aim of understanding phenomics of organisms.  Overall genomics contains sequencing of genomes, determination of complete set of genes, reasoning of transcripts and proteins encoded by an structure, their interactions and understanding of metabolic pathways. Thus, genomics not only handles the generation of the hereditary information, but also understanding devices by which this facts is used by an creature. Genomics is often detached into structural genomics, working genomics and comparative genomics. Proteins do a variety of important duties in living things. The whole group of proteins that a system or being produces or modifies is known as the proteome. A increasing number of proteins can be labeled thanks to proteomics. The focus of the current review act various occurrences and features related to genomics and proteomics.

Author(s) Details:

Sanjaya Kumar Nayak,
College of Pharmaceutical Science, Puri, Odisha, India.

Biswaranjan Ray,
Institute of Pharmaceutical Science, Jaleswar, Odisha, India.

Please see the link here: https://stm.bookpi.org/ACMMR-V3/article/view/12371

Isolation and Molecular Characterization of BCSP-31 Gene of Brucella abortus, a Significant Tool in Making Marker and DNA Vaccines from Cases of Bovine Abortion in an Organised Dairy Farm in India | Chapter 6 | Newest Updates in Agriculture and Veterinary Science Vol. 4

 Brucellosis, from abortion in females and orchitis in men along with unproductiveness in both sexes, is an important zoonotic ailment in many developing countries. Isolation of Brucella structure is considered as the gold standard demonstrative method for brucellosis because it is specific and allows biotyping of the segregate, which is appropriate for control of brucellosis through vaccination. This chapter reports the seclusion, identification and microscopic detection of Brucella abortus. Brucella abortus was detected in four dispassionate samples by culture seclusion and was subsequently confirmed by PCR. Molecular description of Brucella abortus BCSP-31 gene (protein that frequently elicits an invulnerable response all along infection and a significant form in making marker and DNA vaccines) was favorably done in this chapter.

Author(s) Details:

Chhabil Singh,
Central Military Veterinary Laboratory (CMVL), Meerut Cantt, Meerut (U.P.), India.

Surender Kumar,
Central Military Veterinary Laboratory (CMVL), Meerut Cantt, Meerut (U.P.), India.

S. B. R. Sagi,
Central Military Veterinary Laboratory (CMVL), Meerut Cantt, Meerut (U.P.), India.

Vikas Thakur,
Central Military Veterinary Laboratory (CMVL), Meerut Cantt, Meerut (U.P.), India.

Amit Kumar,
Central Military Veterinary Laboratory (CMVL), Meerut Cantt, Meerut (U.P.), India.

Please see the link here: https://stm.bookpi.org/NUAVS-V4/article/view/10112

Molecular Identification of Lactic Acid Bacteria in Indigenous Fermented Pig Fat: A Case from Assam, India | Chapter 7 | Innovations in Microbiology and Biotechnology Vol. 7

 In this study, probiotic bacteria in traditionally fermented pig fat (Sathu) from Karbi Anglong, Assam, were to be identified. The goal of the study is to examine the significance of food to the population by determining the existence of native Lactic acid bacteria and characterizing probiotic features in vitro using industry-standard methodologies. Two different bacterial species (KJc8 C8 and KJR2 C9) were isolated from the food sample. The isolates' cocci and rod-like morphology were found to be present. The isolated strains had crucial properties for bacteria to be probiotics, including resistance to inhibitory substances like NaCl (1–10%) and bile salt (0.1–1%) and a preference for acidic environments. Additionally, the isolates showed success in metabolizing different sources of carbohydrates. Probiotic bacteria species Bacillus and Lactobacillus were discovered by molecular analysis using 16S rDNA gene sequencing. The experimental results also demonstrated that there were no additional spoilage bacteria present and that just Lactobacillus and Bacillus species predominated in the food sample. This offers compelling proof that the food product might include probiotics. Beyond its nutritional implications, additional investigation into the food item will be a milestone in the economic advancement of civilization.

Author(s) Details:

Ranjita Yumkhaibam,
Department of Biotechnology, National Institute of Technology, Arunachal Pradesh, Jote-791113, India.

Kimjolly Lhouvum,
Department of Biotechnology, National Institute of Technology, Arunachal Pradesh, Jote-791113, India.

Please see the link here: https://stm.bookpi.org/IMB-V7/article/view/8056

Studies on Bacterial Populations Concomitant with Sclerotium rolfsii sclerotia in Flooded Soil, as Estimated by 16S rRNA Gene, PCR-DGGE and Sequence Analyses | Chapter 08 | New Visions in Biological Science Vol. 4

 The bacterial populations associated with sclerotia of Sclerotium rolfsii, the causal agent of soybean stem rot, were investigated using PCR-DGGE.

Methodology and Results: In a greenhouse and in the field, fungal sclerotia were buried in soil supplemented with organic matter and incubated under flooded circumstances for 15 or 30 days. The viability of the recovered sclerotia, as well as the accompanying bacterial populations, were studied. DGGE band patterns exhibited the most bacterial diversity in samples from soil supplemented with rice straw or wheat bran and inundated for 30 days. The diversity index from organic amendment under 30 day flooding in the greenhouse, for example, was greater than 1.80, whereas the index for other treatments was less than 1.5. This pattern was seen in the field experiment as well. Sclerotial viability and illness incidence were negatively correlated with the diversity index generated from DGGE band patterns. The nucleotide sequences of the DGGE bands revealed that Clostridiaceae members were prominent in samples that had been inundated for 30 days, while Oxalobacteraceae, Nocardiaceae, and Actinomycetaceae were dominant in samples that had not been flooded.
Conclusion: Under flooded conditions, this is the first description of a soil bacterial flora associated with S. rolfsii sclerotia.

Author(S) Details

Appolinaire Adandonon
School of Crop and Seed Production and Management (EGPVS), National University of Agriculture (UNA) of Porto-Novo, Republic of Benin; 08 BP 1055 Cotonou, Republic of Benin.

Noriaki Momma
Department of Research & Development, Institute for Horticultural Plant Breeding, 2-5-1 Kamishiki, Matsudo, Chiba, 270-2221, Japan..

Yuko Takada Hoshino
Division of Environmental Biofunction, National Institute for Agro-Environmental Sciences, 3-1-3 Kannondai, Tsukuba 305- 8604, Ibaraki, Japan.

Tomoyuki Makino
Division of Environmental Biofunction, National Institute for Agro-Environmental Sciences, 3-1-3 Kannondai, Tsukuba 305- 8604, Ibaraki, Japan.

View Book:- https://stm.bookpi.org/NVBS-V4/article/view/4300