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991.
Stephen A. Heifetz Max Robinowitz Kenneth H. Mueller Renu Virmani 《Pediatric cardiology》1986,7(1):11-18
Summary The clinicopathologic features of four patients with total anomalous origin of the coronary arteries from the pulmonary artery
(TCAPA) are presented and compared with 21 previously reported cases. Patients with TCAPA usually present with left ventricular
heart failure, angina, or associated cardiovascular anomalies. Of the 19 patients in whom a clinical history was available,
16 were symptomatic before three days of age. All patients died with 60% dying before two weeks of age. Longer survival was
associated with additional cardiovascular anomalies that increased pulmonary arterial perfusion pressure, oxygen saturation,
or both. Seventeen (68%) patients had additional cardiovascular anomalies, most commonly atrial (nine cases) or ventricular
(eight cases) septal defects and tetralogy of Fallot or other variants of pulmonary atresia (four cases). Only five (22%)
of 23 had noncardiovascular anomalies. The coronary arteries arose equally from either one ostium or from two, and the number
of ostia was not related to either anomalous coronary artery distribution or to the presence of additional cardiovascular
anomalies. Cardiomegaly was present in 56% of cases and the majority of patients had myocardial fibrosis or infarction. Embryology
is reviewed and evidence is presented to support the theory of involution-persistence of coronary artery anlagen as the pathogenetic
mechanism of TCAPA. 相似文献
992.
Brenda Finucane Michael B. Kurtz Charles I. Scott 《American journal of medical genetics. Part A》1992,43(5):844-847
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. © 1992 Wiley-Liss, Inc. 相似文献
993.
18例新生儿消化道畸形患儿经周围静脉接受TPN,常规监测血生化及肝肾功能,收集24h尿液测定氮平衡,同时测定胰岛素、肌红蛋白及CPK。结果表明,经周围静脉输注TPN安全、实用,溶液中可适当提高氨基酸浓度,以达到代谢支持的目的,系列测定CPK可作为短期TPN监测的指标。 相似文献
994.
995.
S. Rudnik-Schöneborn U. John F. Deget J. H. H. Ehrich J. Misselwitz K. Zerres 《European journal of pediatrics》1998,157(8):666-672
A clinical study of 204 patients with unilateral multicystic renal dysplasia referred to 30 nephrology departments was undertaken
to assess the frequency of complications in children who underwent nephrectomy (n=40) versus those who were treated conservatively (n=164). Six patients required antihypertensive treatment, 30 (13% of girls, 17% of boys) had at least one episode of urinary
tract infection. The number of clinical complications did not differ in patients who underwent nephrectomy in comparison to
those who did not. The dysplastic kidney decreased in size in 65% of kidneys with repeated ultrasound values; no change occurred
in 16%, while an increase in maximal diameter was observed in 19%. Contralateral kidney length of more than 2 standard deviation
scores (SDS) was seen in 30% of patients. There is evidence for a slight impairment of renal function in the whole study group
given by a median of serum creatinine level of 0.63 SDS in all patients available for analysis. Among those 35 patients with
contralateral anomalies (mainly obstructive changes and vesico-ureteral reflux), all 3 patients with contralateral changes
suggestive of hypoplasia and 22% with obstruction, but only 1/7 (14%) with reflux showed elevated serum creatinine level >2
SDS.
Conclusion Renal function seems to be slightly impaired in patients with unilateral multicystic renal dysplasia. The apparent tendency
to regression of the dysplastic kidney and no difference in the number of complications justify a conservative management
rather than operative intervention.
Received: 9 May 1997 / Accepted in revised form: 16 February 1998 相似文献
996.
F.P.M. Cremers F. Brunsmann T.J.R. van de Pol I.H. Pawlowitzki K. Paulsen B. Wieringa H.H. Ropers 《Clinical genetics》1987,32(6):421-423
Using various probes from the Xq21 region which is known to carry the choroideremia (tapetochoroideal dystrophy, TCD) locus, we have screened the DNAs from eight unrelated male choroidermia patients for microdeletions. In two of these patients, but not in any of 45 males tested as controls, lack of hybridization signals with probe plbD5 suggested a deletion encompassing the DXS165 locus and (part of) the TCD gene. Absence of additional clinical features in these patients and the fact that two closely linked, and probably flanking, TCD markers (DXYS1 and DXS72) are not deleted may indicate that the physical distance between the DXS165 locus and the TCD gene is small. 相似文献
997.
The present study describes birth defects and health status of offspring of men with dibromochloropropane (DBCP) induced testicular dysfunction. One case with a major anomaly (urinary bladder extrophy and epispadias) and 2 cases of minor birth defects were observed among the 34 children evaluated. This rate was similar and not significantly different (p = 0.80) from that observed in a control group of 51 children conceived during pre-exposure in the same families. The health status of all the children was unremarkable. It is concluded that paternal exposure to DBCP, severe enough to cause azoospermia or oligozoospermia, did not increase the rate of congenital malformations or of impaired health status of offspring conceived during or after exposure. 相似文献
998.
Immunostimulation increases the resistance of mouse embryos to the teratogenic effect of diabetes mellitus 总被引:1,自引:1,他引:0
A. Torchinsky V. Toder S. Savion J. Shepshelovich H. Orenstein A. Fein 《Diabetologia》1997,40(6):635-640
Summary The present work was aimed to assess the possible effect of stimulation of the maternal immune system on the teratogenic
potential of diabetes mellitus. ICR female mice were immunized with splenocytes of male rats 3 weeks before the beginning
of mating and were injected with 240 mg/kg streptozocin (STZ) 10 days after immunization. Females with blood glucose levels
over 27.8 mmol/l and HbA1 c levels over 6 standard deviations (SD) above the mean of intact animals were used for teratological studies. The rate of
malformed fetuses, resorptions and fetal weights were evaluated for animals killed on day 19 of pregnancy using routine teratological
methods. Also, phenotyping of spleen cells of these females was performed by fluorescein activated cell sorter analysis. Two
main effects possibly due to immunostimulation of ICR females were observed: 1) immunostimulated females had significantly
fewer litters with malformed fetuses than non-immunized females: only 4 litters out of 22 (18 %) compared to 10 out of 16
(63 %). Correspondingly, the incidence of malformed fetuses was also decreased: 2.1 compared to 8.9 %; 2) a significant increase
in the pregnancy rate in immunized diabetic ICR mice: 69 % as compared to 44 % in non-immunized diabetic females. Also, immunostimulation
resulted in a visible increase in spleen cellularity and a certain increase in the number of cells with mature T-cell and
macrophage surface markers. These results strongly suggest that immunostimulation increases the tolerance of ICR females to
the teratogenic effect of STZ-induced diabetes. [Diabetologia (1997) 40: 635–640]
Received: 23 December 1996 and in revised form: 4 March 1997 相似文献
999.
Major Peter R. McNally Do Captain Edward H. Collier III MD Captain Mark C. Lopiano MD Lieutenant Colonel Thomas G. Brewer MD Colonel Roy K. H. Wong MD 《Digestive diseases and sciences》1990,35(2):263-266
Esophageal stenosis is a rare congenital anomaly (1 per 25,000 live births), which usually presents during infancy (1). The stenosis is typically aperistaltic, and the onset of symptoms depends upon the degree of deformity. In severe stenosis, symptoms of vomiting or r'egurgitation occur at birth or with the introduction of solids (2, 3). In mild cases, patient adaptation may delay the diagnosis (1,4). We report an unusual case of congenital esophageal stenosis, where abnormal peristalsis was preserved within the stenotic segment and presentation as acute food impaction was delayed until adulthood. Endoscopic, radiographic, and esophageal manometric findings of congenital esophageal stenosis are described, and the therapeutic alternatives discussed.The opinions and assertions contained herein are the private ones of the authors and are not to be construed as official policy or reflecting the views of the Army or the Department of Defense. 相似文献
1000.