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"Canals Juvenile literature."
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Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability
by
Nagy, Vanja
,
Kokotović, Tomislav
,
Darvish, Hossein
in
Ataxia
,
CACNA1A protein
,
Central nervous system
2022
Epilepsy is a disease of Central Nervous System (CNS) characterized by abnormal brain activity and recurrent seizures and is considered a clinically and genetically heterogeneous disease. Here, we investigated pathogenic genetic alteration and described the clinical characteristics of three Iranian family members affected by Idiopathic Generalized Epilepsy (IGE) with and without intellectual disability.
A non-consanguineous Iranian family with juvenile myoclonic epilepsy was enrolled in the study. The comprehensive neurological evaluation included motor and sensory skills, vision, hearing, speech, coordination, and mood. Whole-exome Sequencing (WES) was performed on the proband to detect probable pathogenic variant, and after the filtering process, probable variants were evaluated with familial segregation analysis using Sanger sequencing.
Using WES, we identified a heterozygous missense substitution (NM_023035.3:c.T677G:p.Leu226Trp) in CACNA1A gene in the studied family with juvenile myoclonic epilepsy with and without intellectual disability and psychiatric phenotype. Considering the patients’ clinical synopsis, familial segregation analysis, and literature review, we postulated this variant to be causative of the disease. Indeed, the resulting missense mutation of Leu226Trp affects a highly conserved residue supporting our hypothesis that this mutation is potentially pathogenic.
To the best of our knowledge, this is the first report of juvenile myoclonic epilepsy related to CACNA1A gene. Our results provide evidence for expanding the clinical and molecular findings related to the CACNA1A gene.
•CACNA1A is associated with multiple neurological disorders, including DEE 42, EA2, FHM, and SCA 6.•We identified a new CACNA1A gene variant (ch19: 13476238, NM_023035.3: c.T677G) in JME in three individuals of a family.•To the best of our knowledge, this is the first report of JME related to CACNA1A gene.
Journal Article
Mapping the flow of commercial broiler day-old chicks in Kenya
by
Guyo, Boru A
,
Moodley, Arshnee
,
Ibayi, Eugine L
in
Agriculture
,
Animal health
,
Animal welfare
2025
Poultry production is a significant contributor to economic growth and food security in Kenya. Reliable data on day-old chicks (DOCs) production and distribution are essential for formulating effective national policies on poultry production and animal health delivery. Here, we describe the commercial broiler DOCs production, distribution, and associated animal health and antibiotic use practices in Kenya.
Data were collected through focus group discussions, individual interviews, and key informant interviews involving three DOCs producers, 128 distributors, two government regulatory agencies, one poultry producers' association and 128 farmers.
Across the DOCs production pyramid, animal health and biosecurity practices varied, with stronger management observed in parent stock (PS) than in commercial stock (CS) production facilities. DOCs distribution followed either vertically integrated systems for largescale broiler farms-owned by the CS producers or contracted farms-or horizontal systems involving numerous small-scale distributors. Veterinary drug stores were the main distributors (96%) of CS DOCs to farmers. Veterinary authorities routinely audited PS and CS hatcheries for compliance with biosecurity and animal welfare standards. However, suboptimal animal welfare practices (such as long travel times and transportation stress) and inappropriate antibiotic recommendation to farmers were observed at the distribution level during collection of CS DOCs.
These findings provide critical evidence to guide policies on biosecurity, distribution, and animal health practices within the DOCs distribution chain. Factors such as transportation stress, poor biosecurity, and inappropriate antibiotic recommendations can compromise DOCs health, which may result in higher antibiotic use on farms. Strengthening oversight and promoting best practices across the production and distribution system would enhance the quality and health of DOCs supplied to farmers, reduce dependence on antibiotics, and support sustainable poultry production that safeguards both food security and public health.
Journal Article
Thirteenth NewsWatch
2017
On his way into a caucus meeting this morning, Prime Minister Justin Trudeau sang the praises of the CETA as evidence of the merits of globalization. During a joint news conference with Israeli Prime Minister Benjamin Netanyahu in Washington, Trump declared he is not committed to a two-state solution between Israel and Palestine.
Newsletter
Insect tissue culture systems: models for study of hormonal control of development
by
Porcheron, P. (Universite Pierre et Marie Curie, Paris, France)
in
Animals
,
Biological and medical sciences
,
BIOLOGICAL DEVELOPMENT
1991
The regulation of growth and development of insects is under endocrine control and involves both juvenile hormones and ecdysteroids. Neuropeptides are master regulators which control the secretion of these hormones. Most experiments in insect endocrinology have been conducted in vivo, but tissue culture methodology is playing an increasing role due to the great interest in simpler model systems for the study of complex processes that occur in vivo. The availability of appropriate media has allowed the culture of a variety of insect organs and cell lines of defined origin which have kept certain properties of the parent tissues. Tissue culture approaches have been useful for studying hormonal control of morphogenetic processes. Cell lines are particularly suited to the study of hormonally regulated mechanisms of macromolecular biosynthesis and gene expression. Thus, the value of in vitro analysis in studies of regulation of hormone production is now recognized. Results obtained from tissue culture allow more precise definition of the hormonal requirements of insect cells and tissues for growth and differentiation and might make possible the discovery of new growth regulators.
Journal Article