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1.
Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII), presented with fetal hydrops at 20 and 26 weeks of gestation. The enzyme deficiency was observed in cultured amniotic fluid cells and in fetal plasma from cord-blood and was confirmed after termination of pregnancy. A third case presented with transient ascites at 6.5 months of gestation. Mild dysmorphic features at birth and gradual neurological deterioration were observed. Deficiency of beta-galactosidase was documented confirming a GM1 gangliosidosis. Evidence has accumulated that fetuses affected by lysosomal diseases, may present with transient or persistent hydrops fetalis. The exact frequency is however not known. Further diagnostic studies in persistent or transient hydrops fetalis, looking for lysosomal and other metabolic diseases, whenever major causes of hydrops fetalis have been excluded, are therefore indicated. Amniocentesis and cordocentesis should always be performed.  相似文献   

2.
Summary Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.  相似文献   

3.
In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.  相似文献   

4.
Kilgour RJ 《Theriogenology》1993,40(2):277-285
The effect of breeding capacity of rams on flock fertility was studied by exposing each of 15 rams to 1 of 15 flocks of 200 naturally-cycling ewes for 17 days. Five of the rams were arbitrarily designated as being of high breeding capacity (mean+/-SEM = 14.7+/-0.5 services in 2 3-hour pen breeding tests); five rams were designated as being of medium capacity (7.3 +/- 0.2); and the remaining five were designated as being of low breeding capacity (1.7 +/- 0.5). Breeding capacity was shown to be positively correlated with the number of services during flock mating, to the number of ewes mated and to insemination success. Breeding capacity as measured in a pen test of shorter duration (1 hour) was shown to be similarly related to flock fertility. Further, the number of services during flock mating was also positively correlated with the number of ewes mated and impregnated, as well as to the number of fetuses conceived and to insemination success. Breeding frequency of the ram is, therefore, closely related to flock fertility, but breeding capacity, as measured in the present study, is only a moderately accurate indicator of breeding frequency.  相似文献   

5.
Campylobacter isolates from diverse samples within broiler production and processing environments were typed by using flaA short variable region DNA sequence analysis. Sixteen flocks from four different farms representing two broiler producers in Arkansas and California were analyzed. Fourteen of the flocks (87.5%) were Campylobacter-positive; two remained negative throughout the 6-week rearing period. In general, multiple clones were present within a flock. Additionally, clones found within a flock were also present on the final product, although the diversity of Campylobacter spp. on the final product appeared to be reduced relative to that observed within the flock. Comparison of clones between flocks on the same farm revealed that some clones of Campylobacter persisted in multiple flocks. Furthermore, some clones were identified across the two farms that were under the same management. In two sampling periods, environmental isolates were positive for Campylobacter prior to flock shedding. Environmental samples associated with five additional flocks were positive for Campylobacter concomitantly with recovery of Campylobacter from the birds. Analysis of the environmental isolates that were positive prior to flock shedding demonstrated that in some instances the environmental isolates possessed genotypes identical to those of isolates originating from the flock, while in other cases the environmental isolates possessed genotypes that were distantly related to isolates obtained from the flock. Analyses of environmental isolates that tested positive concurrently with the positive isolates from the flocks demonstrated varied results; in some instances the environmental isolates possessed genotypes identical to those of isolates originating from the flock, while in other cases the environmental isolates possessed genotypes that were distantly related to isolates obtained from the flock. These data suggest that the external environment may contribute to Campylobacter contamination during poultry production and processing. However, environmental contamination with Campylobacter does not appear to be the sole contributing factor.  相似文献   

6.
Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalised lymphatic dysplasia is presented. One child died aged 5 months, one spontaneously miscarried at 17 weeks gestation, and the third has survived with extensive lymphoedema. All three presented with hydrops fetalis. There are seven other siblings who are clinically unaffected. Linkage analysis produced two loci on chromosome 18, covering 22 Mb and containing 150 genes, one of which is CCBE1. A homozygous cysteine to serine change in CCBE1 has been identified in the proband, in a residue that is conserved across species. High density SNP analysis revealed homozygosity (a region of 900 kb) around the locus for CCBE1 in all three affected cases. This indicates a likely ancestral mutation that is common to both parents; an example of a homozygous mutation representing Identity by Descent (IBD) in this pedigree. Recent studies in zebrafish have shown this gene to be required for lymphangiogenesis and venous sprouting and are therefore supportive of our findings. In view of the conserved nature of the cysteine, the nature of the amino acid change, the occurrence of a homozygous region around the locus, the segregation within the family, and the evidence from zebrafish, we propose that this mutation is causative for the generalised lymphatic dysplasia in this family, and may be of relevance in cases of non-immune hydrops fetalis.  相似文献   

7.
Measurements were made of total proteins, albumin, and colloid osmotic pressure on cord blood samples from 15 infants with erythroblastosis fetalis (six of whom were hydropic) and from 151 non-rhesus non-hydropic control infants. The erythroblastotic infants had levels of total protein and albumin which fell within the normal range for gestational age, but their colloid osmotic pressures were abnormally low. It seems that low colloid osmotic pressure may provide a reasonable explanation for the occurrence of hydrops fetalis.  相似文献   

8.
《Small Ruminant Research》2010,93(1-3):45-51
Clinical evaluation of reproductive ability of rams is an integral part of sheep health management programs. The majority of problems adversely affecting the reproductive ability of rams can be easily detected with clinical evaluation. The procedure is easy to perform, has a small cost and does not require specialized support from a veterinary laboratory. As a management procedure, the method should be applied two months before the breeding season, in order to detect problems, which would adversely affect the reproductive ability of rams. It should also be performed when selecting ram-lambs as replacement sires in a flock; their first evaluation should be performed at weaning, followed by another two examinations: two to four months later and before the first mating season of these rams. The method should also be performed before the purchase of any ram as sire in a flock. Regular monitoring of reproductive ability of rams in a flock contributes to early diagnosis of disorders. As a diagnostic procedure, the method should be performed during the investigation of reproductive problems within a flock. During the evaluation of reproductive ability of rams, various clinical findings can be detected and their importance can vary. In general, rams should be in good condition and have healthy genitalia, normal libido and the ability to mate the ewes. Clinical evaluation of rams is performed in the following stages: (a) history-taking, (b) evaluation of the ratio “ewe:ram” in the flock, (c) general clinical examination, (d) clinical examination of the genitalia, (e) ultrasonographic examination of the genitalia and (f) evaluation of libido. Veterinary advice is important, in order to incorporate the clinical evaluation of reproductive ability of rams into the health management of sheep flocks.  相似文献   

9.
Newborn screening is an accepted public health measure to ensure that appropriate health care is provided in a timely manner to infants with hereditary/metabolic disorders. Alpha-thalassemia is a common hemoglobin (Hb) disorder, and causes Hb H (beta4) disease, and usually fatal homozygous alpha(0)-thalassemia, also known as Hb Bart's (gamma4) hydrops fetalis syndrome. In 1996, the State of California began to investigate the feasibility of universal newborn screening for Hb H disease. Initial screening was done on blood samples obtained by heel pricks from newborns, and stored as dried blood spots on filter paper. Hb Bart's levels were measured as fast-moving Hb by automated high-performance liquid chromatography (HPLC) identical to that currently used in newborn screening for sickle cell disease. Subsequent confirmation of Hb H disease was done by DNA-based diagnostics for alpha-globin genotyping. A criterion of 25% or more Hb Bart's as determined by HPLC detects most, if not all cases of Hb H disease, and few cases of alpha-thalassemia trait. From January, 1998, through June, 2000, 89 newborns were found to have Hb H disease. The overall prevalence for Hb H disease among all newborns in California is approximately 1 per 15,000. Implementation of this program to existing newborn hemoglobinopathy screening in populations with significant proportions of southeast Asians is recommended. The correct diagnosis would allow affected infants to be properly cared for, and would also raise awareness for the prevention of homozygous alpha(0)-thalassemia or Hb Bart's hydrops fetalis syndrome.  相似文献   

10.
Hydrops fetalis associated with red cell pyruvate kinase deficiency   总被引:1,自引:0,他引:1  
A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation.  相似文献   

11.
During 1980-7, 23 pregnancies of 22-38 weeks'' duration were investigated for fetal tachycardia. Twelve were cases of supraventricular tachycardia, eight of atrial flutter, and three cases in which the rhythm varied between supraventricular tachycardia and atrial flutter. In 11 cases the fetus had developed non-immune fetal hydrops before referral; 12 cases were non-hydropic at referral but one of this group of fetuses became hydropic during treatment. No relation was found between the rate or type of arrhythmia and the presence or absence of intrauterine heart failure. One non-hydropic infant was delivered electively prematurely. Maternal antiarrhythmic treatment was instituted in the remaining 22 cases. Conversion of the arrhythmia was achieved with digoxin alone in five cases and with a combination of digoxin and verapamil in nine. Control of the arrhythmia was achieved in seven of the 10 non-hydropic fetuses, and all were delivered at term with no deaths. Of the 12 hydropic fetuses, control was achieved in seven. Only three of the hydropic fetuses were delivered close to term. There were two deaths, both in the hydropic group. Of the whole group, five neonates suffered severe complications of prematurity. In this series the main benefit of treatment appeared to be in prolonging gestation of those hydropic fetuses in which conversion was achieved.  相似文献   

12.

Background

Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%.

Patients and methods

We report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination.

Results

At present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication.

Conclusions

LSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.
  相似文献   

13.
J. A. Lowden  N. Rudd  E. Cutz  T. A. Doran 《CMAJ》1975,113(6):507-511
In 4 years of 24 fetuses at risk for various sphingolipid and mucopolysaccharide storage diseases were examined. Amniocentesis at 16 weeks'' gestation was followed in most cases by culture of amniotic fluid cells and measurement in the cells of the activity of the enzyme suspected to be deficient. Six fetuses were affected; five were examined morphologically and biochemically after abortion. Two fetuses had Tay-Sachs disease, two had GM1 gangliosidosis and one had Hurler''s syndrome. Although in each affected detus the specific enzyme activity was absent, we found in the placenta 5 to 50% of the normal activity.  相似文献   

14.
Prospective and retrospective genetic studies were performed on sheep with a recently described inherited lysosomal storage disease that involves a profound deficiency of beta-galactosidase and an associated deficiency of alpha-neuraminidase. Retrospective studies of the flock of sheep in which four affected lambs were born indicated little inbreeding but the presence of a common ram in both the maternal and paternal sides of the pedigrees. When unrelated rams were used in the flock in subsequent years, no affected lambs were born. The affected lambs' parents were phenotypically normal, so the disease was investigated as a putative autosomal recessive condition in prospective breedings of related sheep over two breeding seasons. For the third breeding season, heterozygous ewes were superovulated and bred to a heterozygous ram, and the resultant embryos were transferred to recipient ewes. Later in the same breeding season, the heterozygous ewes were re-bred naturally to the heterozygous ram. Lambs were identified as affected by the development of signs of ataxia, levels of beta-galactosidase that were less than 7% of the levels in controls by spectrofluorometric assay, or the histopathologic demonstration of vacuolization of neurons. Heterozygous sheep were identified by the production of affected offspring and/or by levels of beta-galactosidase in fibroblast cultures that were approximately 50% of control levels. The phenotypic ratio of affected sheep to normal sheep and the genotypic ratio of affected to heterozygous to normal sheep were consistent, by chi-square analysis, with an autosomal recessive trait. It was concluded that this ovine lysosomal storage disease is an autosomal recessive disease.  相似文献   

15.
This study examined the hypothesis that the development of hydrops fetalis after asphyxia in the 0.6 gestation sheep fetus would be associated with activation of the fetal renin-angiotensin system (RAS). Fetuses were randomly assigned to either sham occlusion (n = 7) or to 30 min of asphyxia induced by complete umbilical cord occlusion for 30 min (n = 8). Asphyxia led to severe bradycardia and hypotension that resolved after release of occlusion. After occlusion, plasma renin concentration was significantly increased in the asphyxia group compared with controls (P < 0.005) after 3 min (16.3 +/- 5.3 vs. 4.1 +/- 1.3 ng. ml(-1). h(-1)), and 72 h (30.6 +/- 6.3 vs. 3.7 +/- 1.2 ng. ml(-1). h(-1)). Renal renin concentrations and mRNA levels were significantly greater in the asphyxia group after 72 h of recovery. All fetuses in the asphyxia group showed generalized tissue edema, ascites, and pleural effusions after 72 h of recovery. In conclusion, asphyxia in the preterm fetus caused sustained activation of the RAS, which was associated with hydrops fetalis.  相似文献   

16.
While using transgenic mice to study the regulation of alpha-fetoprotein (AFP) it was noted that two different alpha-fetoprotein-chloramphenicol acetyl transferase (CAT) transgenes resulted in the appearance of craniofacial anomalies in 11% of the offspring derived from crosses between transgenic mice and nontransgenic mates. A total of 13 fetuses exhibited abnormalities; two are described in detail. Ninety-two percent of the affected fetuses had some form of mandibular abnormality while zygomatic and ossicular defects appeared in more than 40% of the specimens. Aglossia and aberrant musculature were also present in the most severely involved specimen. Eight of the affected fetuses were screened for the presence of the AFP-CAT plasmid and all were found to be heterozygous for the transgene. Since the probability that all 8 of the abnormal fetuses known to carry the CAT gene would have done so by chance was only 1 in 256, it may be assumed that these anomalies did not appear spontaneously, but were somehow created by the transgenic procedure. It is not known how the transgenic material led to the observed dysmorphogenetic pattern, but theoretically introduction of the AFP-CAT plasmid could have disrupted morphogenesis through the presence of the "foreign" CAT protein or a decrease in the availability of AFP. Since AFP levels were found to be normal in both the liver and the yolk sac of transgenic fetuses, it appears that the presence of CAT was responsible for the craniofacial anomalies described here.  相似文献   

17.
A case of haemoglobin Bart''s hydrops syndrome was characterised in a Greek family with a history of three other fetuses with hydrops. Family studies showed that both the mother and father carried alpha-thalassaemia genes, and globin-chain synthesis analysis of the present fetus showed a total absence of alpha-chain production. The haemoglobin composition of the fetus was similar to that seen in cases in south-east Asia, and analysis of DNA from the Greek case confirmed the total deletion of the alpha-chain genes. The extent of the deletion, however, differed from that seen in south-east Asian cases and included the loss of one of the embryonic zeta-chain genes. Thus the severe form of alpha-thalassaemia occurs in Greece but has arisen independently from the similar condition in south-east Asia. The condition must be considered in any woman of this racial background who gives a history of unexplained stillbirths.  相似文献   

18.
Boophilus ticks (n = 25,987) were collected from cattle at 30 communal dip tanks and five commercial farms in the Soutpansberg region, Limpopo Province, South Africa, between May 1999 and December 2001. Only 6.6% were Boophilus decoloratus, while 93.4% were Boophilus microplus, a tick that had not been reported from this area previously. B. microplus was the most common Boophilus tick on communal dip tank cattle, while B. decoloratus was more commonly found on commercial farms. Where the two species occurred together, B. microplus tended to displace B. decoloratus. The displacement was almost complete at the communal dip tanks, while on the commercial farms the population change was still in progress at the end of the survey. The present study demonstrated that a postulated reproductive interference was insufficient in preventing B. microplus from spreading when the climatic conditions were favourable to this species, as the displacement in most of the areas appeared to be rapid and complete.  相似文献   

19.
20.
Ovulation rate records from 1311 female progeny of 50 Coopworth rams were used to study the inheritance of ovulation rate in a screened high prolificacy sheep flock. Breeding values (BV) for ovulation rate for 33 sires used within the screened flock and ovulation rate deviations for a further 17 sires progeny tested in commercial flocks suggest that a major gene (WOODLANDS: gene) for ovulation rate with a non-Mendelian inheritance pattern is segregating in a family line. Rams assigned as carriers of the putative gene did not produce carrier sons (zero of three), and this coupled with the observation that daughters of carrier rams had ovulation rates of 0. 39 (standard error of difference [SED] = 0.06) higher than contemporaries without a significant increase in the variance of log ovulation rate strongly suggests that the gene is on the X chromosome. The evidence suggests that the gene is also maternally imprinted because ovulation rate data indicate that it is expressed where females inherit a paternal allele but is silenced when inherited on a maternal allele. Maternal granddaughters of carrier rams had mean ovulation rates that were only 0.02 (SED = 0.06) higher than noncarrier ewes from the same flock. Furthermore, carrier dams expressing the gene (paternal allele) had 24 sons, none of which had female offspring that expressed the gene, whereas carrier dams not expressing the gene (maternal allele) had 7 out of 17 sons that had female progeny expressing the gene. There is no evidence of the infertility that occurs in homozygous ewes carrying the X-linked Inverdale gene. Collectively, these results suggest the existence of a novel gene for prolificacy located on the X chromosome that is maternally imprinted. The WOODLANDS: gene was only expressed upon paternal inheritance from carrier males that were the progeny of nonexpressing carrier dams. The gene was not expressed in ewes that received it from either carrier dams (expressing or nonexpressing) or from carrier males that were the progeny of expressing carrier dams.  相似文献   

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