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排序方式: 共有568条查询结果,搜索用时 312 毫秒
121.
Temporal bone imaging in GJB2 deafness 总被引:3,自引:0,他引:3
Propst EJ Blaser S Stockley TL Harrison RV Gordon KA Papsin BC 《The Laryngoscope》2006,116(12):2178-2186
OBJECTIVE: To describe temporal bone findings on computed tomography (CT) imaging in GJB2-related hearing loss (HL). We asked whether evaluation of the temporal bone is required in individuals with biallelic GJB2 mutations. STUDY DESIGN: Randomized, blinded, controlled, prospective measurement. METHODS: Blood from 264 pediatric cochlear implant users was analyzed for mutations in the GJB2 gene. Thirty-six aspects of the temporal bone on CT imaging were evaluated in 53 individuals (106 ears) with biallelic disease causing GJB2 mutations. A subset of patients was age matched and compared with normally hearing individuals. Subjects with biallelic GJB2 mutations were tested for mutations in the SLC26A4 gene to rule out Pendred syndrome as a confounding cause of large vestibular aqueduct syndrome. RESULTS: Approximately 53% of ears of subjects (72% of subjects) with biallelic GJB2 mutations had at least one temporal bone anomaly. The most common findings were 1) dilated endolymphatic fossa (28%); 2) hypoplastic modiolus (25%); 3) large vestibular aqueduct (8%); 4) hypoplastic horizontal semicircular canal (8%); 5) hypoplastic cochlea (4%). Compared with normally hearing individuals, the GJB2 group had hypoplasia of the cochlear nerve canal, lateral semicircular canal vestibule, internal auditory canal (t tests, P < .001), and were 11 times more likely to have a hypoplastic modiolus. Dilated endolymphatic fossae were 1.4 times more common in the GJB2 group, and large vestibular aqueducts were 3 times more common in the GJB2 group, as compared with normally hearing controls. CONCLUSIONS: Temporal bone anomalies are common in GJB2-related HL, and imaging of the temporal bone should be included in routine evaluation of these individuals. 相似文献
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Vanessa L Romanelli Tavares Christopher T Gordon Roseli M Zechi-Ceide Nancy Mizue Kokitsu-Nakata Norine Voisin Tiong Y Tan Andrew A Heggie Siulan Vendramini-Pittoli Evan J Propst Blake C Papsin Tatiana T Torres Henk Buermans Luciane Portas Capelo Johan T den Dunnen Maria L Guion-Almeida Stanislas Lyonnet Jeanne Amiel Maria Rita Passos-Bueno 《European journal of human genetics : EJHG》2015,23(4):481-485
Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1–EDNRA pathway during early pharyngeal arch patterning. To date, two GNAI3 variants in three families have been reported. Here we report three novel GNAI3 variants, one segregating with affected members in a family previously linked to 1p21.1-q23.3 and two de novo variants in simplex cases. Two variants occur in known functional motifs, the G1 and G4 boxes, and the third variant is one amino acid outside of the G1 box. Structural modeling shows that all five altered GNAI3 residues identified to date cluster in a region involved in GDP/GTP binding. We hypothesize that all GNAI3 variants lead to dominant negative effects. 相似文献
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PC Ng TF Fok CH Lee KL Cheung CK Li KW So W Wong PMP Yuen 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(11):1197-1199
Two cases of homozygous α-thalassaemia who received active treatment in accordance with parental wishes are reported. One infant survived and the other, although successfully weaned off mechanical respiratory support, unexpectedly developed portal vein thrombosis and died. Homozygous a-thalassaemia, a condition previously considered to be universally fatal, and an indication for therapeutic abortion, is now potentially curable with advances in diagnostic technology and treatment. However, active management of these cases raises serious ethical questions and has major financial implications on the health-care system. Invasive prenatal and intensive postnatal interventions should remain experimental and cannot be recommended as routine clinical practice until the questions of long-term neurodevelopmental outcome, and the morbidity and mortality associated with bone-marrow transplantation have been fully addressed. As a result of advances in information technology, more and more parents of affected foetuses are likely to request active treatment. 相似文献
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127.
Paget disease of the nipple: radiologic-pathologic correlation 总被引:1,自引:0,他引:1
128.
Benzimra RE; Antao AJ; Donovan KL; Williams AJ 《QJM : monthly journal of the Association of Physicians》1998,91(6):417-422
Haemolytic uraemic syndrome (HUS) and thrombotic thrombocytopenic purpura
(TTP) are conditions in which thrombocytopenia and microangiopathic
haemolytic anaemia are associated with organ damage due to thrombotic
microangiopathy (TMA). The prognosis for adults with HUS is variable, with
some patients presenting with an acute illness from which a full recovery
is made, whilst others develop irreversible renal failure. Evidence of
retinal ischaemia was noted on presentation in a normotensive patient with
irreversible renal failure due to HUS. This study examined prospectively
the optic fundi of all patients who subsequently presented to a single
adult renal unit (catchment population approximately 700,000) with HUS.
Eleven patients presented with HUS over 12 years (1985-1997). Six patients
with irreversible renal failure had retinal abnormalities either at the
time or within a few days of initial presentation. The other five patients
whose renal function recovered did not develop retinal changes during the
course of their illness. Retinal ischaemia associated with TMA is a poor
prognostic sign in adults with HUS.
相似文献
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