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101.
Mohan Kameswaran R. S. Anand Kumar Sathiya Murali S. Raghunandhan K. Karthikeyan 《Indian journal of otolaryngology and head and neck surgery》2007,59(3):280-283
Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identified as the primary cause of BOR syndrome. We present a 3year old child with BOR syndrome, who came to us with bilateral low set, malformed ears & profound cochlear hearing loss along with bilateral branchial fistulae & unilateral renal agenesis. This child underwent successful cochlear implantation recently. The clinical presentation, pre-operative investigations, intra-operative findings & post-op habilitation status are presented with special highlights on the unique facial nerve course along with middle and inner ear anomalies which posed a surgical challenge during cochlear implantation. 相似文献
102.
Kesashi Aonuma M.D. Atsushi Komiyama M.D. Ph.D. Taro Akabane M.D. Ph.D. 《Pediatrics international》1990,32(6):651-655
The frequency and clinical significance of the pseudo-Chediak-Higashi (PCH) anomaly were studied in 20 children with acute myeloid leukemia (AML) M2 in the FAB nomenclature. PCH granules were recognized as giant eosinophilic granules, measuring up to 5μ, in the cytoplasm of leukemic cells on smears. At the electron microscope level, most PCH granules were round to oval and outlined by a limiting membrane, and contained homogeneous, granular, crystalloid, rod-like or myelin-like materials. The PCH anomaly was demonstrable in five (25.0%) of the 20 patients, which indicates that the anomaly is not rare in childhood AML M2. There were no differences between PCH anomaly-positive and PCH anomaly negative groups with regard to hepatosplenomegaly, hemoglobin levels, white blood cell counts, bone marrow cellularity, t(8q-, 21q+) chromosome abnormalities or prognoses. Circulating leukemic cells were observed less frequently in the PCH anomaly-positive group than in the PCH anomaly-negative group (p <0.05); the leukemic cells were not demonstrable in three of the five patients in the former group, although they were detected in all 15 patients in the latter group. The existence of PCH granules and/or a defect of the cytoskeleton responsible for the PCH anomaly in leukemic cells may impede their movement from the bone marrow to the peripheral blood. 相似文献
103.
Kazuhiro Takahashi Sachiko Kido Kenji Hoshino Kiyoshi Ogawa Hirofumi Ohashi Yoshimitsu Fukushima 《European journal of pediatrics》1995,154(11):878-881
Recent molecular studies have revealed that a 22q11 deletion is frequently detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). As one of the major clinical manifestations in these three syndromes is conotruncal cardiac malformation, we prospectively studied the frequency of a 22q11 deletion in a group of patients with conotruncal cardiac malformation. Fluorescence in situ hybridization (FISH) analyses using N25 (D22S75) DiGeorge Chromosome Region probe were performed on 64 patients with conotruncal cardiac malformation, who visited our clinic from October 1993 to January 1994. Of the 64 patients studied, a 22q11 deletion was detected in 5 patients (7.8%): 3 out of 30 patients with tetralogy of Fallot, one of three with interruption of the aortic arch, and one hemitruncus patient. No deletion was found in 16 patients with complete transposition of the great arteries, 8 with double outlet right ventricle and 2 with aortopulmonary window. In these five patients with 22q11 deletion, patient 1 was clinically diagnosed as having DGS, patients 2 and 3 had CTAFS, and patient 4 had VCFS. Patient 5 could not be dysmorphologically evaluated. It was noteworthy that all patients with a 22q11 deletion, except a non-evaluated patient, had some symptoms of syndromes DGS, CTAFS or VCFS, and that we failed to identify a non-syndromic 22q11 deletion positive patients in the present series of 64 patients.Conclusion This study suggests that it is advisable to bear 22q11 deletion in mind when a patient with conotruncal cardiac anomalies has some other features of DGS, VCFS or CTAFS. 相似文献
104.
Prof. Gilda Caruso Alberta Cifarelli Giuseppe Balducci Franco Facilone 《Pediatric cardiology》1987,8(3):209-210
Summary Clinical and pathological data of a full-term male newborn with Ebstein's malformation of the mitral valve are reported. Moderate cyanosis and progressive heart failure were present from birth and he died on the fourth day after birth, with clinical evidence of severe aortic coarctation. Necropsy revealed a severely dysplastic mitral valve, with anatomical features of Ebstein's anomaly, in the absence of corrected transposition but associated with aortic coarctation. 相似文献
105.
Purpose : To establish the incidence of underlying orbital vascular anomalies, the presence of systemic associations and predisposing factors, the natural history and appropriate management of patients with non‐traumatic orbital haemorrhage presenting in an orbital clinic. Methods : The records of 115 patients with a diagnosis of non‐traumatic orbital haemorrhage were reviewed with regard to clinical findings, investigations, management and outcome. Results : Associated orbital vascular malformations were present in 104 patients (90%). Thirteen (11%) had additional or other predisposing factors (childbirth, prolonged headstands, hypertension or coagulopathies). Six patients (5%) had no predisposing factor. Acute onset painful proptosis, associated with lid swelling or a mass, was the most common presentation. Visual acuity was reduced in 37 patients (32%) at presentation. Excluding eight patients (7%) who underwent surgery for optic nerve compression, spontaneous resolution of the haemorrhage was complete in 62%, partial in 27%, while 4% had no resolution. Final visual acuity was reduced in 23 patients (20%). Conclusion : The majority of bleeds are associated with some form of orbital vascular anomaly. Where no such anomaly can be demonstrated a search for an underlying systemic cause should be performed. Haemorrhages in the young were usually localized whereas those in older patients were diffuse. Orbital imaging, with a combination of computed tomography and magnetic resonance imaging, was helpful in the assessment of these lesions. Most bleeds are venous and self‐limiting. Surgical intervention was rarely necessary and should be confined to those with optic nerve compromise or a localized lesion which persists. 相似文献
106.
A gastric duplication cyst with an aberrant pancreatic ductal system: report of a case 总被引:2,自引:0,他引:2
Muraoka A Tsuruno M Katsuno G Sato N Murata T Kokudo Y Tatemoto A Sone Y Kagawa S Tsumura M Mizobuchi K 《Surgery today》2002,32(6):531-535
We report an extremely rare case of a gastric duplication cyst together with an aberrant pancreatic ductal system, which communicated
with the stomach rather than the pancreatic ductal system with no evidence of pancreatitis. A 46-year-old woman developed
severe abdominal pain after a 10-year history of occasional mild abdominal pain. Upper gastrointestinal barium radiography
showed a rigidity of the stomach wall, and gastroscopy revealed a fistula orifice at a greater curvature of the gastric body.
Subsequent endoscopic suction of mucous secretion from within the fistula provided immediate pain relief. Abdominal computed
tomography and ultrasonography showed a cystic mass contiguous with the stomach wall. Surgical exploration revealed an uncommon
anomaly of a gastric duplication cyst with the aberrant pancreatic lobe. The patient made an uneventful recovery and remains
well 4 years after surgery. We also herein review ten other similar cases of this uncommon congenital anomaly reported in
the literature.
Received: August 20, 2001 / Accepted: January 8, 2002 相似文献
107.
目的探讨遗传病与染色体异常的关系。方法采用外周血淋巴细胞培养,常规法制备染色体标本,G显带,镜下核型分析。结果分析延安市遗传咨询者211例的外周血染色体,发现异常核型19例,占9.00%。其中,常染色体异常14例,性染色体异常5例。结论染色体异常是导致遗传病的重要原因之一,对遗传咨询者进行染色体检查,不仅对优生优育、提高遗传素质有重要意义,而且为遗传病防治提供重要依据。 相似文献
108.
Absence of the common carotid artery (CCA) and/or internal carotid artery (ICA) is a kind of rare congenital anomaly. This paper reports one patient with bilateral absence of the CCA and ICA who suffered from cerebral infarction. And the relative literatures of the possible cause and collateral circulation were reviewed. 相似文献
109.
This study investigated cerebral asymmetries in sensitivity to sentence-level semantic anomaly. To separate the effects of anomalous message processing from those attributable to low sentence constraint, low-constraint sentence-fragment primes were followed by target words presented to the left or right visual fields. When completed by the target word, the sentences represented either normal or anomalous messages; in addition, one-half of the sentence primes contained a word strongly related to the target. Targets presented to both the left and right visual fields were advantaged by the presence of a related word, and disadvantaged by the presence of a semantically anomalous message. Contrary to some previous claims, this result implies that the right hemisphere can construct some message-level interpretations from sentences, such that semantic anomaly is registered, even if finer gradations of sentence constraint are not. This rudimentary integration of word meanings in sentences may provide a scaffolding for right hemisphere discourse processing. In light of these findings, we propose a revised view of left/right hemisphere differences in the processes used to interpret sentence meaning. 相似文献
110.
The aim of this study was to report catheter malposition during voiding cystourethrography. Eight hundred forty-three voiding
cystourethrography (265 males and 578 females, aged 1 week to 12 years, mean age 2 years) were performed during a period of
4 years. The conventional standard procedure was applied. In 3 cases with passed history of urinary tract infection the catheter
entered directly into the ureter. In all these cases the uretero-vesical reflux was present on the same side where the catheter
entered. It appears that insertion of a catheter into the ureter is possible only in the presence of an anomaly or pathology
at the vesicoureteric junction.
Received: 25 January 2000 Revised: 31 May 2000 Accepted: 5 June 2000 相似文献