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Maladies du système nerveux
Maladies du système nerveux central
Encéphalopathies
Épilepsie
Épilepsies partielles
Épilepsie partielle sensorielle
Épilepsie partielle sensorielle : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"description": "Comment diagnostiquer l'épilepsie partielle sensorielle ?\nQuels tests sont utilisés pour confirmer le diagnostic ?\nLes antécédents familiaux influencent-ils le diagnostic ?\nQuels symptômes initiaux sont observés lors du diagnostic ?\nL'évaluation neurologique est-elle nécessaire ?",
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"@type": "Question",
"name": "Comment diagnostiquer l'épilepsie partielle sensorielle ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'historique médical, l'EEG et l'imagerie cérébrale."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour confirmer le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'EEG et l'IRM sont essentiels pour identifier les anomalies cérébrales."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'épilepsie peuvent augmenter le risque."
}
},
{
"@type": "Question",
"name": "Quels symptômes initiaux sont observés lors du diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des sensations anormales comme des picotements ou des hallucinations peuvent être signalées."
}
},
{
"@type": "Question",
"name": "L'évaluation neurologique est-elle nécessaire ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une évaluation neurologique complète est cruciale pour le diagnostic."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes typiques de l'épilepsie partielle sensorielle ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des sensations anormales, des picotements ou des hallucinations."
}
},
{
"@type": "Question",
"name": "Les crises affectent-elles la conscience ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la conscience reste généralement intacte pendant les crises partielles sensorielles."
}
},
{
"@type": "Question",
"name": "Peut-on ressentir des odeurs ou des goûts étranges ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des sensations olfactives ou gustatives anormales peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent varier considérablement selon les individus."
}
},
{
"@type": "Question",
"name": "Les crises peuvent-elles être déclenchées par des stimuli ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des stimuli comme la lumière ou le stress peuvent déclencher des crises."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les crises d'épilepsie partielle sensorielle ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention passe par la gestion des déclencheurs et l'adhésion au traitement."
}
},
{
"@type": "Question",
"name": "Quels sont les déclencheurs à éviter ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les déclencheurs incluent le stress, le manque de sommeil et certaines lumières clignotantes."
}
},
{
"@type": "Question",
"name": "L'éducation des patients est-elle importante ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'éducation aide les patients à reconnaître et éviter les déclencheurs."
}
},
{
"@type": "Question",
"name": "Le suivi médical régulier est-il nécessaire ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi régulier permet d'ajuster le traitement et de surveiller les symptômes."
}
},
{
"@type": "Question",
"name": "Les changements de mode de vie peuvent-ils aider ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un mode de vie sain peut réduire la fréquence des crises."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour l'épilepsie partielle sensorielle ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des médicaments antiépileptiques et parfois la chirurgie."
}
},
{
"@type": "Question",
"name": "Les médicaments antiépileptiques sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont souvent efficaces pour contrôler les crises chez de nombreux patients."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle une option de traitement ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la chirurgie peut être envisagée si les médicaments ne contrôlent pas les crises."
}
},
{
"@type": "Question",
"name": "Y a-t-il des effets secondaires aux traitements ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les médicaments peuvent avoir des effets secondaires comme la somnolence ou des vertiges."
}
},
{
"@type": "Question",
"name": "Les thérapies complémentaires sont-elles utiles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines thérapies comme la thérapie comportementale peuvent aider en complément."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec l'épilepsie partielle sensorielle ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des blessures lors des crises et des troubles psychologiques."
}
},
{
"@type": "Question",
"name": "Les crises peuvent-elles entraîner des blessures ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les crises peuvent provoquer des chutes ou des blessures accidentelles."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de dépression ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes épileptiques peuvent avoir un risque accru de dépression."
}
},
{
"@type": "Question",
"name": "Les crises peuvent-elles affecter la vie quotidienne ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent perturber les activités quotidiennes et la qualité de vie."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un traitement approprié et un suivi."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de l'épilepsie partielle sensorielle ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des traumatismes crâniens et des infections."
}
},
{
"@type": "Question",
"name": "Les traumatismes crâniens augmentent-ils le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traumatismes crâniens peuvent augmenter le risque de développer l'épilepsie."
}
},
{
"@type": "Question",
"name": "Les infections cérébrales sont-elles un facteur de risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des infections comme la méningite peuvent augmenter le risque d'épilepsie."
}
},
{
"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque d'épilepsie ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'épilepsie peut survenir à tout âge, mais certains groupes d'âge sont plus à risque."
}
},
{
"@type": "Question",
"name": "Les troubles neurologiques augmentent-ils le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles comme les AVC peuvent accroître le risque d'épilepsie."
}
}
]
}
]
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To describe the prevalence, distribution, and features of anterior and posterior segment abnormalities in the contralateral eye in cases unilateral of anophthalmia and blind microphthalmia....
The medical records of patients with unilateral congenital anophthalmia and blind microphthalmia referred to Beijing Tongren Hospital between January 2017 and December 2021 were reviewed retrospective...
A total of 168 patients were included. Of these, 28 (16.7%) had fellow eye abnormalities, 4 (2.4%) with anterior segment involvement in the contralateral eye. All 28 had fundus abnormalities. The most...
Patients with unilateral congenital anophthalmia or blind microphthalmia have a high probability of contralateral eye disease. The most common abnormality is coloboma....
Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of ...
In this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exom...
This report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the di...
Cataract surgery in microphthalmic eyes is challenging due to anatomical restraints, hard bulky nucleus. This series aims to evaluate the safety and efficacy of couching of intraocular lens in irido-f...
Tertiary care centre in South India....
Retrospective non-comparative study in eyes with irido-fundal coloboma, corneal diameter < 7 mm and brown cataract. Visual acuity less than 6/60 in other eye....
Anterior chamber entry made, zonules broken and lens dislocated into the vitreous cavity in a controlled manner. Baseline Clinico-demographic details, corrected distance visual acuity (CDVA), Intra-oc...
Fifteen eyes of 15 subjects were evaluated with a mean age 49.4 ± 10.9 years. At baseline, mean IOP 14.5 ± 3.8 mmHg, mean axial length 19.3 ± 0.5 mm, mean corneal diameter was 6.5 ± 0.34 mm and CDVA 2...
Couching of cataractous lens is an effective and safe method in microphthalmic eyes with irido-fundal coloboma as last resort procedure, where no other surgical procedure may work. It provides an ambu...
Microphthalmia-associated transcription factor (MITF) is an important regulator of melanogenesis and melanocyte development. In cutaneous melanoma, MITF loss has been linked to an increased expression...
SOX2 pathogenic variants, though rare, constitute the most commonly known genetic cause of clinical anophthalmia and microphthalmia. However, patients without major ocular malformation, but with multi...
Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental ...
We used in vitro transcriptional assays and in silico structural analysis to assess the functional relevance of RARB variants in affecting the normal response to retinoids....
We found that all RARB variants tested in our assays exhibited either a gain-of-function or a loss-of-function activity. Loss-of-function variants disrupted RARB function through a dominant-negative e...
Our study indicates that pathogenic variants in RARB are functionally heterogeneous and associated with extensive clinical heterogeneity....
Best vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with cataracts and ocular malformations. We reported a case with a comp...
A six-year-old girl manifested photophobia and a poor visual behavior. A thorough ophthalmic examination revealed the patient to have bilateral microphthalmia, microcornea, congenital cataract, and Be...
This case suggests that the complex ocular phenotype comprising BVMD and congenital cataract with microphthalmia cannot be explained by variation in one gene but is caused by variants in BEST1 and CRY...
Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopm...
The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditio...
We compared next generation sequencing multigene panels (NGS-MGP) from 5 commercial laboratories to inform ophthalmologists' decision making in diagnostic genetic testing for congenital anterior segme...
Comparison of commercial genetic testing panels....
This observational study gathered publicly available information on NGS-MGP from 5 commercial laboratories for the following: cataracts, glaucoma, anterior segment dysgenesis (ASD), microphthalmia-ano...
Altogether, cataract, glaucoma, corneal dystrophies, MAC, ASD, and ARS panels tested 239, 60, 36, 292, and 10 discrete genes, respectively. The consensus rate varied between 16% and 50%, and the disse...
The genetic testing of CASAs using NGS-MGPs is complicated, owing to their number, variety, and phenotypic and genetic overlap. Although the inclusion of additional genes, such as the standalone ones,...