Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.10.135
A. Vicario, G. Cerezo
Hypertension and dementia are two highly prevalent pathologies that affect the brain in the same period (persons over 60 years). One-third of patients with dementia have hypertension and, hypertension was reported in two-third of patients 65 years and older with dementia [1]. Thus, the brain is a target organ for hypertension and hypertension is the main modifiable vascular risk factor for developing cognitive impairment, dementia or Alzheimer's disease. Among the vascular risk factors, hypertension is the main cause of small vessel disease (leukoaraiosis, lacunar infarcts, microbleeds and dilated perivascular spaces) that mainly affects the cerebral subcortex. Vascular brain damage (hypoperfusion, hipoxia, ischemia, brainblood barrier disruption) affects the neurovascular unit (vascular, oligodendrocytes and neurons) and demyelinates the association fibers in the most vulnerable regions of subcortex (periventricular area has high density of long associating fibers), disconnecting the cortico-subcortical association circuits. The dorsolateral prefrontal cortex and the nuclei of the base is the most frequently circuit affected, resulting in impairment of executive functions [2].
{"title":"Why Should We Must Evaluate Cognitive Function in Hypertensive Patients","authors":"A. Vicario, G. Cerezo","doi":"10.35248/2168-975X.21.10.135","DOIUrl":"https://doi.org/10.35248/2168-975X.21.10.135","url":null,"abstract":"Hypertension and dementia are two highly prevalent pathologies that affect the brain in the same period (persons over 60 years). One-third of patients with dementia have hypertension and, hypertension was reported in two-third of patients 65 years and older with dementia [1]. Thus, the brain is a target organ for hypertension and hypertension is the main modifiable vascular risk factor for developing cognitive impairment, dementia or Alzheimer's disease. Among the vascular risk factors, hypertension is the main cause of small vessel disease (leukoaraiosis, lacunar infarcts, microbleeds and dilated perivascular spaces) that mainly affects the cerebral subcortex. Vascular brain damage (hypoperfusion, hipoxia, ischemia, brainblood barrier disruption) affects the neurovascular unit (vascular, oligodendrocytes and neurons) and demyelinates the association fibers in the most vulnerable regions of subcortex (periventricular area has high density of long associating fibers), disconnecting the cortico-subcortical association circuits. The dorsolateral prefrontal cortex and the nuclei of the base is the most frequently circuit affected, resulting in impairment of executive functions [2].","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86174756","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.10.E138
Samy I McFarlane
The midbrain (mesencephalon) contains the atomic complex of the oculomotor nerve just as the trochlear core; these cranial nerves innervate muscles that move the eye and control the state of the focal point and the breadth of the student. Also, between the midbrain reticular arrangement (referred to here as the tegmentum) and the crus cerebri is a huge pigmented core called the substantia nigra. The substantia nigra comprises of two sections, the standards reticulata and the standards compacta. Cells of the standards compacta contain the dim shade melanin; these cells integrate dopamine and undertaking to either the caudate core or the putamen. By restraining the activity of huge aspiny striatal neurons in the caudate core and the putamen (depicted above in the segment Basal ganglia), the dopaminergic cells of the standards compacta impact the yield of the synapse GABA from prickly striatal neurons. The prickly neurons thus task to the cells of the standards reticulata, which, by extending strands to the thalamus, are important for the yield arrangement of the corpus striatum. At the caudal midbrain, crossed filaments of the predominant cerebellar peduncle (the significant yield arrangement of the cerebellum) encompass and halfway end in a huge midway found construction known as the red core. Most crossed rising filaments of this pack undertaking to thalamic cores, which approach the essential engine cortex. Fewer filaments neural connection on huge cells in caudal locales of the red core; these lead to the crossed strands of the rubrospinal plot (see the part The spinal rope: Descending spinal lots). The rooftop plate of the midbrain is shaped by two combined adjusted swellings, the unrivaled and mediocre colliculi. The unrivaled colliculus gets contribution from the retina and the visual cortex and takes part in an assortment of visual reflexes, especially the following of items in the contralateral visual field. The mediocre colliculus gets both crossed and uncrossed hear-able filaments and undertakings upon the average geniculate body, the hear-able hand-off core of the thalamus
{"title":"Subjective of Brain Stem","authors":"Samy I McFarlane","doi":"10.35248/2168-975X.21.10.E138","DOIUrl":"https://doi.org/10.35248/2168-975X.21.10.E138","url":null,"abstract":"The midbrain (mesencephalon) contains the atomic complex of the oculomotor nerve just as the trochlear core; these cranial nerves innervate muscles that move the eye and control the state of the focal point and the breadth of the student. Also, between the midbrain reticular arrangement (referred to here as the tegmentum) and the crus cerebri is a huge pigmented core called the substantia nigra. The substantia nigra comprises of two sections, the standards reticulata and the standards compacta. Cells of the standards compacta contain the dim shade melanin; these cells integrate dopamine and undertaking to either the caudate core or the putamen. By restraining the activity of huge aspiny striatal neurons in the caudate core and the putamen (depicted above in the segment Basal ganglia), the dopaminergic cells of the standards compacta impact the yield of the synapse GABA from prickly striatal neurons. The prickly neurons thus task to the cells of the standards reticulata, which, by extending strands to the thalamus, are important for the yield arrangement of the corpus striatum. At the caudal midbrain, crossed filaments of the predominant cerebellar peduncle (the significant yield arrangement of the cerebellum) encompass and halfway end in a huge midway found construction known as the red core. Most crossed rising filaments of this pack undertaking to thalamic cores, which approach the essential engine cortex. Fewer filaments neural connection on huge cells in caudal locales of the red core; these lead to the crossed strands of the rubrospinal plot (see the part The spinal rope: Descending spinal lots). The rooftop plate of the midbrain is shaped by two combined adjusted swellings, the unrivaled and mediocre colliculi. The unrivaled colliculus gets contribution from the retina and the visual cortex and takes part in an assortment of visual reflexes, especially the following of items in the contralateral visual field. The mediocre colliculus gets both crossed and uncrossed hear-able filaments and undertakings upon the average geniculate body, the hear-able hand-off core of the thalamus","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79449373","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.10.136
Steven G. Koven
PTSD is a brain disorder that exacts large costs to individuals, families, and society in general. Direct monetary costs that are associated with PTSD symptoms of U.S. military veterans have been increasing steadily. Less direct indicators of PTSD costs to society include the externalities of lower economic productivity, family dysfunction, PTSD comorbidities, drug, and alcohol addictions. Veteran awards linked to PTSD are conferred with the tacit assumption that “cures” for PTSD do not exist. Veterans Administration policies adopt the pharmacological strategy of dispensing drugs that have not been approved for PTSD usage by the U.S. Food and Drug Administration. Despite the existing government policies regarding PTSD treatment of veterans, emerging literature indicates that innovative PTSD treatments are available, that they deserve further scrutiny, and that they may present better alternatives to status quo options. In particular, noteworthy research regarding the use of stellate ganglion block or SGB appears to be promising. In addition to SGB research, literature has shown that approaches to PTSD such as physical activity, meditation, wilderness therapy, and self-help hold promise as treatments. Two treatment drugs, the selective serotonin reuptake inhibitor (SSRI) medications sertraline (Zoloft) and paroxetine (Paxil) have been approved by the Food and Drug Administration (FDA) for relieving symptom of PTSD. However, the U.S. Food and Drug Administration warned that these drugs are accompanied with the risk of suicidal thoughts, hostility, and agitation. Equally, if not more troubling, the literature indicates that physicians commonly prescribe benzodiazepine tranquilizers (such as Valium and Xanax) to veterans even though Veterans Administration guidelines advise against their use for PTSD. The Veterans Administration dispensed these drugs to almost a third of veterans being treated for PTSD even though they recognized the need to exercise caution in their use. A review of the literature indicates that PTSD is a growing societal problem; that existing treatments show signs of being problematic, and that innovative treatment strategies deserve greater attention.
{"title":"PTSD Treatment Literature: Old and Fresh Approaches","authors":"Steven G. Koven","doi":"10.35248/2168-975X.21.10.136","DOIUrl":"https://doi.org/10.35248/2168-975X.21.10.136","url":null,"abstract":"PTSD is a brain disorder that exacts large costs to individuals, families, and society in general. Direct monetary costs that are associated with PTSD symptoms of U.S. military veterans have been increasing steadily. Less direct indicators of PTSD costs to society include the externalities of lower economic productivity, family dysfunction, PTSD comorbidities, drug, and alcohol addictions. Veteran awards linked to PTSD are conferred with the tacit assumption that “cures” for PTSD do not exist. Veterans Administration policies adopt the pharmacological strategy of dispensing drugs that have not been approved for PTSD usage by the U.S. Food and Drug Administration. Despite the existing government policies regarding PTSD treatment of veterans, emerging literature indicates that innovative PTSD treatments are available, that they deserve further scrutiny, and that they may present better alternatives to status quo options. In particular, noteworthy research regarding the use of stellate ganglion block or SGB appears to be promising. In addition to SGB research, literature has shown that approaches to PTSD such as physical activity, meditation, wilderness therapy, and self-help hold promise as treatments. Two treatment drugs, the selective serotonin reuptake inhibitor (SSRI) medications sertraline (Zoloft) and paroxetine (Paxil) have been approved by the Food and Drug Administration (FDA) for relieving symptom of PTSD. However, the U.S. Food and Drug Administration warned that these drugs are accompanied with the risk of suicidal thoughts, hostility, and agitation. Equally, if not more troubling, the literature indicates that physicians commonly prescribe benzodiazepine tranquilizers (such as Valium and Xanax) to veterans even though Veterans Administration guidelines advise against their use for PTSD. The Veterans Administration dispensed these drugs to almost a third of veterans being treated for PTSD even though they recognized the need to exercise caution in their use. A review of the literature indicates that PTSD is a growing societal problem; that existing treatments show signs of being problematic, and that innovative treatment strategies deserve greater attention.","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74503964","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.S2.E001
A. Hameed
Before beginning treatment, you would possibly need a second opinion concerning your diagnosing and treatment set up. Some folks worry that the doctor are going to be pained if they raise a second opinion. Typically the other is true. Most doctors welcome a second opinion. and lots of insurance firms pays for a second opinion if you or your doctor requests it. Some firms need a second opinion. If you get a second opinion, the doctor might believe your initial doctor's diagnosing and treatment set up. Or the second doctor might recommend another approach. Either way, you'll need a lot of data and maybe a bigger sense of management. You’ll feel a lot of assured concerning the selections you create, knowing that you have checked out your choices. It may take your time and energy to assemble your medical records and see another doctor. In several cases, it isn't a retardant to require many weeks to urge a second opinion. The delay in beginning treatment typically will not build treatment less effective. To form positive, you ought to discuss this delay together with your doctor. Some folks with a brain tumor want treatment at once. There are some ways to seek out a doctor for a second opinion. You’ll raise your doctor, a neighborhood or state medical society, a close-by hospital, or a graduate school for names of specialists. Also, you'll request a consultation with specialists at the National Institutes of Health Clinical Center in Bethesda, Maryland.
{"title":"Subjective of Brain Tumor","authors":"A. Hameed","doi":"10.35248/2168-975X.21.S2.E001","DOIUrl":"https://doi.org/10.35248/2168-975X.21.S2.E001","url":null,"abstract":"Before beginning treatment, you would possibly need a second opinion concerning your diagnosing and treatment set up. Some folks worry that the doctor are going to be pained if they raise a second opinion. Typically the other is true. Most doctors welcome a second opinion. and lots of insurance firms pays for a second opinion if you or your doctor requests it. Some firms need a second opinion. If you get a second opinion, the doctor might believe your initial doctor's diagnosing and treatment set up. Or the second doctor might recommend another approach. Either way, you'll need a lot of data and maybe a bigger sense of management. You’ll feel a lot of assured concerning the selections you create, knowing that you have checked out your choices. It may take your time and energy to assemble your medical records and see another doctor. In several cases, it isn't a retardant to require many weeks to urge a second opinion. The delay in beginning treatment typically will not build treatment less effective. To form positive, you ought to discuss this delay together with your doctor. Some folks with a brain tumor want treatment at once. There are some ways to seek out a doctor for a second opinion. You’ll raise your doctor, a neighborhood or state medical society, a close-by hospital, or a graduate school for names of specialists. Also, you'll request a consultation with specialists at the National Institutes of Health Clinical Center in Bethesda, Maryland.","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88480920","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.10.129
A. Hameed
Sitting and failing to help extensive stretches of time or exiting recently appreciated exercises. It’s critical to take note of that the presence of a couple of these signs alone doesn't imply that you have a psychological maladjustment. In any case, it demonstrates that you may require further assessment. In case you're encountering a few of these manifestations all at once and they're keeping you from approaching your day by day life, you should
{"title":"Commentary of Mental Disorder","authors":"A. Hameed","doi":"10.35248/2168-975X.21.10.129","DOIUrl":"https://doi.org/10.35248/2168-975X.21.10.129","url":null,"abstract":"Sitting and failing to help extensive stretches of time or exiting recently appreciated exercises. It’s critical to take note of that the presence of a couple of these signs alone doesn't imply that you have a psychological maladjustment. In any case, it demonstrates that you may require further assessment. In case you're encountering a few of these manifestations all at once and they're keeping you from approaching your day by day life, you should","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88847817","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.10.127
M. Tan
Indications of cerebrum malignancy are impacted by what portion of the mind is included and the utilitarian framework it influences (e.g., engine, tangible, language, and so forth) For instance, vision issues may result from a tumor close to the optic nerve. A tumor in the forward portion of the cerebrum may influence the capacity to focus and think. A tumor situated in a region that controls engine capacity may cause shortcoming, deadness or trouble with discourse. Any tumor that is fundamentally huge may cause various side effects due to the pressing factor made by the mass. Individuals with a mind tumor may encounter the accompanying indications or signs. Once in a while, individuals with a mind tumor don't have any of these changes. Or on the other hand, the reason for a side effect might be an alternate ailment that isn't a cerebrum tumor.
{"title":"Out Lines of Brain Cancer","authors":"M. Tan","doi":"10.35248/2168-975X.21.10.127","DOIUrl":"https://doi.org/10.35248/2168-975X.21.10.127","url":null,"abstract":"Indications of cerebrum malignancy are impacted by what portion of the mind is included and the utilitarian framework it influences (e.g., engine, tangible, language, and so forth) For instance, vision issues may result from a tumor close to the optic nerve. A tumor in the forward portion of the cerebrum may influence the capacity to focus and think. A tumor situated in a region that controls engine capacity may cause shortcoming, deadness or trouble with discourse. Any tumor that is fundamentally huge may cause various side effects due to the pressing factor made by the mass. Individuals with a mind tumor may encounter the accompanying indications or signs. Once in a while, individuals with a mind tumor don't have any of these changes. Or on the other hand, the reason for a side effect might be an alternate ailment that isn't a cerebrum tumor.","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91493253","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.10.E139
A. Hameed
{"title":"Cerebellum and its Function","authors":"A. Hameed","doi":"10.35248/2168-975X.21.10.E139","DOIUrl":"https://doi.org/10.35248/2168-975X.21.10.E139","url":null,"abstract":"","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89088112","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}
Pub Date : 2021-01-01DOI: 10.35248/2168-975X.21.S2.E003
Samy I McFarlane
Psychosis is a condition that influences the manner in which your cerebrum measures data. It makes you put some distance between the real worlds. You may see, hear, or accept things that aren't genuine. Psychosis is a side effect, not a disease. A psychological or actual disease, substance misuse, or outrageous pressure or injury can cause it. Maniacal problems, similar to schizophrenia, include psychosis that normally influences you without precedent for the late teenager years or early adulthood. Youngsters are particularly prone to get it, yet specialists don't have the foggiest idea why. Indeed, even before what specialists call the principal scene of psychosis (FEP), you may show slight changes in the manner in which you act or think. This is known as the prodromal period and could last days, weeks, months, or even years. Some of the time you can put some distance between realities in any event, when you don't have an essential maniacal ailment like schizophrenia or bipolar problem.
{"title":"Editorial Note on Psychosis","authors":"Samy I McFarlane","doi":"10.35248/2168-975X.21.S2.E003","DOIUrl":"https://doi.org/10.35248/2168-975X.21.S2.E003","url":null,"abstract":"Psychosis is a condition that influences the manner in which your cerebrum measures data. It makes you put some distance between the real worlds. You may see, hear, or accept things that aren't genuine. Psychosis is a side effect, not a disease. A psychological or actual disease, substance misuse, or outrageous pressure or injury can cause it. Maniacal problems, similar to schizophrenia, include psychosis that normally influences you without precedent for the late teenager years or early adulthood. Youngsters are particularly prone to get it, yet specialists don't have the foggiest idea why. Indeed, even before what specialists call the principal scene of psychosis (FEP), you may show slight changes in the manner in which you act or think. This is known as the prodromal period and could last days, weeks, months, or even years. Some of the time you can put some distance between realities in any event, when you don't have an essential maniacal ailment like schizophrenia or bipolar problem.","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89664051","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}
Pub Date : 2020-01-01DOI: 10.35248/2168-975X.20.9.258
M. Altable
Since Herophilus of Chalcedon (a.335) studied the brain and considered it the center of the nervous system, all the cognitive, psychological, emotional, and individual behavior processes of the human being have been linked to the brain, which has developed until our days the current neuropsychology. This helps us to explain the changes in the neurological functioning of our brain in situations such as social isolation and sensory deprivation.
{"title":"Quarantine, Brain, and Health","authors":"M. Altable","doi":"10.35248/2168-975X.20.9.258","DOIUrl":"https://doi.org/10.35248/2168-975X.20.9.258","url":null,"abstract":"Since Herophilus of Chalcedon (a.335) studied the brain and considered it the center of the nervous system, all the cognitive, psychological, emotional, and individual behavior processes of the human being have been linked to the brain, which has developed until our days the current neuropsychology. This helps us to explain the changes in the neurological functioning of our brain in situations such as social isolation and sensory deprivation.","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87193916","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}
Pub Date : 2019-04-07DOI: 10.35248/2157-7439.19.8.252
Ayman A. Abdelhady, Salem T. Abdelhady, Hebatallah R. Rashed
Introduction: Duchenne muscular dystrophy (DMD) is caused by the lack of functional dystrophin molecules, either due to nonsense mutations (premature stop codons) or by large rearrangements (deletions or duplications) that disturb the reading frame and in consequence abolish the production of dystrophin in muscles. Methods: Twenty patients with muscular dystrophy diagnosed by clinical history, family pedigree, CK total and histopathology of muscle biopsy is subjected to screening for all 79 exons of dystrophin gene for deletions and duplications. Results and Discussion: Deletion was detected in 80% of patients, while 15% showed duplication, one patient shows nucleotide substitution (c.10033C>T) in exon 69. Most common deletion found between exon 44 and 52. Conclusion: Our study detected high incidence of gene deletion compared to other studies, the most common deletion is multi exon deletion in the major hot spot of the gene (exon 44-52), also we detected lower incidence of duplication with higher percentage of duplication found distally.
{"title":"Patterns of Dystrophin Gene Deletion/Duplication in a Sample of Saudi Patients with Duchenne Muscular Dystrophy","authors":"Ayman A. Abdelhady, Salem T. Abdelhady, Hebatallah R. Rashed","doi":"10.35248/2157-7439.19.8.252","DOIUrl":"https://doi.org/10.35248/2157-7439.19.8.252","url":null,"abstract":"Introduction: Duchenne muscular dystrophy (DMD) is caused by the lack of functional dystrophin molecules, either due to nonsense mutations (premature stop codons) or by large rearrangements (deletions or duplications) that disturb the reading frame and in consequence abolish the production of dystrophin in muscles. \u0000Methods: Twenty patients with muscular dystrophy diagnosed by clinical history, family pedigree, CK total and histopathology of muscle biopsy is subjected to screening for all 79 exons of dystrophin gene for deletions and duplications. \u0000Results and Discussion: Deletion was detected in 80% of patients, while 15% showed duplication, one patient shows nucleotide substitution (c.10033C>T) in exon 69. Most common deletion found between exon 44 and 52. \u0000Conclusion: Our study detected high incidence of gene deletion compared to other studies, the most common deletion is multi exon deletion in the major hot spot of the gene (exon 44-52), also we detected lower incidence of duplication with higher percentage of duplication found distally.","PeriodicalId":9146,"journal":{"name":"Brain disorders & therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74920606","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}
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