Certaines complications peuvent être réversibles avec un traitement approprié.
RéversibilitéTraitement approprié
#3
Comment les complications affectent-elles la qualité de vie ?
Les complications peuvent gravement affecter la qualité de vie et nécessiter un soutien.
Qualité de vieSoutien médical
#4
Y a-t-il des risques de maladies associées ?
Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience.
Maladies associéesDéficience enzymatique
#5
Comment prévenir les complications ?
Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications.
Prévention des complicationsSuivi médical
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour cette déficience ?
Les antécédents familiaux et certaines mutations génétiques augmentent le risque.
Antécédents familiauxMutations génétiques
#2
L'environnement joue-t-il un rôle ?
Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme.
Facteurs environnementauxExpression génétique
#3
Les maladies métaboliques augmentent-elles le risque ?
Oui, certaines maladies métaboliques peuvent prédisposer à des déficiences enzymatiques.
Maladies métaboliquesDéficiences enzymatiques
#4
Y a-t-il des groupes à risque particulier ?
Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque.
Groupes à risqueTroubles lipidiques
#5
Comment le mode de vie influence-t-il le risque ?
Un mode de vie malsain peut exacerber les symptômes et augmenter le risque de complications.
Mode de vieRisque de complications
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"position": 1,
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"@type": "Question",
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"position": 7,
"acceptedAnswer": {
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"name": "Les symptômes varient-ils selon l'âge ?",
"position": 8,
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"name": "Peut-on prévenir les déficiences enzymatiques ?",
"position": 11,
"acceptedAnswer": {
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"name": "Y a-t-il des conseils diététiques pour prévenir des problèmes ?",
"position": 12,
"acceptedAnswer": {
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"text": "Une alimentation équilibrée riche en acides gras essentiels peut être bénéfique."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs et aider à la planification familiale."
}
},
{
"@type": "Question",
"name": "Des programmes de sensibilisation existent-ils ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des programmes éducatifs peuvent sensibiliser aux troubles métaboliques héréditaires."
}
},
{
"@type": "Question",
"name": "Comment le suivi médical contribue-t-il à la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier permet de détecter précocement les anomalies et d'ajuster le traitement."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments lipidiques et une thérapie diététique."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais pas encore largement disponible."
}
},
{
"@type": "Question",
"name": "Des médicaments spécifiques existent-ils ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques approuvés pour cette condition."
}
},
{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate peut aider à gérer les symptômes et améliorer la santé globale."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications neurologiques et métaboliques peuvent se développer si non traitées."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent gravement affecter la qualité de vie et nécessiter un soutien."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies associées ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme."
}
},
{
"@type": "Question",
"name": "Les maladies métaboliques augmentent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines maladies métaboliques peuvent prédisposer à des déficiences enzymatiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des groupes à risque particulier ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque."
}
},
{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il le risque ?",
"position": 30,
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"@type": "Answer",
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}
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]
}
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India. jesuaraj@hotmail.com.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
d Laboratory of Molecular Biochemistry and Cell Biology, Department of Biochemistry, Rajendra Memorial Research Institute of Medical Sciences, Agamkuan, Patna 800007, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
d Laboratory of Molecular Biochemistry and Cell Biology, Department of Biochemistry, Rajendra Memorial Research Institute of Medical Sciences, Agamkuan, Patna 800007, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA. Electronic address: paul.sullam@ucsf.edu.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Chemistry, Interdisciplinary Institute of Indian System of Medicine, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
To compare audiometric outcomes of a new cartilage conduction hearing device (CCD) with traditional bone conduction hearing devices (BCDs)....
Clinical trial and crossover study design....
Tertiary academic center....
Sixteen adults (19 ears) with congenital aural atresia or overclosed ear canals who previously underwent BCD implantation were fitted with a CCD. Audiometric data were collected with use of the BCD an...
The mean pretreatment 4-frequency pure tone average was 81 dB. The mean aided pure tone averages with the BCD and CCD were 27 and 32 dB (P = .002), and the mean functional gains were 54 and 49 dB (P =...
Pure tone audiometric outcomes with the BCD show a small advantage over the CCD, with the difference driven mainly by high-frequency responses. Speech outcomes were equivalent apart from the +5-db SNR...
To evaluate speech in noise results and subjective benefit in bilateral active bone conduction implant (ABCI) for bilateral mixed hearing loss....
Prospective, comparative....
Ear, Nose and Throat Unit, Department of Surgical Sciences, University of Turin....
Seven patients with conductive/mixed hearing loss....
Patients underwent simultaneous or sequential bilateral surgery for ABCI....
The speech intelligibility in noise was assessed with the Ita Matrix test in summation, squelch and head shadow settings. First, the tests were performed with one device activated in the ear with lowe...
When bilateral devices were activated, an improvement of signal-to-noise ratio was observed in all settings. The difference between bilateral and unilateral stimulation is 4.66 dB ( p = 0.016) in the ...
In symmetric mixed bilateral hearing loss, rehabilitation with an ABCI fitted bilaterally shows audiologic advantages in speech perception in noise, not only thanks to the summation effect and by redu...
Under bone conduction (BC) stimulation, the otic capsule, and surrounding temporal bone, undergoes a complex 3-dimentional (3D) motion that depends on the frequency, location and coupling of the stimu...
Experiments were conducted in 3 fresh frozen cadaver heads, individually on each temporal bone, resulting in a total of 6 samples. The skull bone was stimulated, via the actuator of a BC hearing aid (...
While there were limited differences in the magnitude of the motion across the skull base, there were major differences in the deformation of different sections of the skull. Specifically, the bone ne...
The area around the otic capsule appears rigid up to significantly higher frequencies than the rest of the skull surface, resulting in primarily inertial loading of the cochlear fluid. Further work sh...
The active transcutaneous bone conduction implant (tBCI; BONEBRIDGE™ BCI 601; MED-EL, Innsbruck, Austria) is fixed to the skull with two self-tapping screws in predrilled screw channels. The aim of th...
Nine patients (mean age 37 ± 16 years, range 14-57 years) were examined pre- and 12 months postoperatively for word recognition scores (WRS) at 65 dB SPL, sound-field (SF) thresholds, bone conduction ...
Due to avoidance of one surgical step, the surgical technique was simplified. Mean WRS in SF was 11.1 ± 22.2% (range 0-55%) pre- and 77.2 ± 19.9% (range 30-95%) postoperatively; mean SF threshold (pur...
Implant fixation by means of self-drilling screws was safe and effective in all nine patients. There was significant audiological benefit 12 months after implantation....
To determine and compare the benefits a novel adhesive bone-conduction system and a conventional bone-conduction hearing aid (BCHA) on a softband for children with conductive hearing loss....
Prospective, single-subject randomized, crossover trial....
Tertiary referral center in Australia....
Eight children aged from 4 to 17 years with conductive hearing loss....
Rehabilitative with participants using the novel adhesive bone-conduction aid and a BCHA....
Aided thresholds, as well as speech perception in quiet, unaided and aided with the novel adhesive bone-conduction aid and BCHA on a softband. For the six older children, speech in noise testing was a...
The mean unaided four frequency average hearing levels was 48 dB HL for air conduction, 10.5 dB HL for bone conduction, with a mean air-bone gap in the aided ear of 37.5 dB HL.Four-frequency average h...
The novel device provided equivalent performance to the BCHA on all measures and can be considered as an alternative device for pediatric patients with conductive hearing loss....
Exact placement of bone conduction implants requires avoidance of critical structures. Existing guidance technologies for intraoperative placement have lacked widespread adoption given accessibility c...
To report the audiometric and surgical outcomes of a series of patients having undergone implantation of a novel transcutaneous bone conduction implant (t-BCI)....
Retrospective case series....
Single academic tertiary referral center....
Adults (≥18 yr) implanted between December 1, 2019, and August 1, 2021, with audiometric data available before and after device implantation and a minimum of 4 weeks follow-up....
Surgical t-BCI....
Change in aided pure tone average (PTA) after implantation. Secondary outcomes include average operative time, and adverse events....
Twenty-three patients underwent implantation of the t-BCI via either a conventional or minimally invasive surgical approach. The most common indication for implantation was unilateral conductive heari...
Forming the largest series of patients implanted with this t-BCI in the published literature, our data demonstrate that implantation of the device is feasible via either a traditional or minimally inv...
When presenting a stereo sound through bilateral stimulation by two bone conduction transducers (BTs), part of the sound at the left side leaks to the right side, and vice versa. The sound transmitted...
To evaluate clinical and audiometric outcomes of adult and pediatric patients implanted with a semi-implantable transcutaneous active bone-conduction implant....
Retrospective chart review....
Two tertiary referral centers....
Subjects implanted with the semi-implantable transcutaneous active bone-conduction implant called BoneBridge....
Implantation of the BoneBridge and audiometric evaluations....
Audiometric, clinical, and surgical outcomes as well as complications....
Forty-two adults and 20 children were implanted for conductive or mixed hearing loss as well as single-sided deafness. Implantation significantly improved mean air-conduction pure-tone average from 72...
In a large retrospective series consisting of both pediatric and adult patients, implantation with a transcutaneous active bone-conduction implant was found to be a reliable aural rehabilitation optio...
Sound transmission to the human inner ear by bone conduction pathway with an implant attached to the otic capsule is a specific case where the cochlear response depends on the direction of the stimula...
