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Biomedical subjects

M P Roth

Publications and source records attributed to M P Roth.

At least 73 records · Page 4Linked to original sources
PubMed1989

Geographic origins of Jewish patients with inflammatory bowel disease.

Ulcerative colitis and Crohn's disease are more common among Jews than among non-Jews. Despite the existence of studies on the prevalence and incidence of inflammatory bowel disease in relation to the continent of residence or origin, there are no studies on the specific countries of origin of Ashkenazi Jewish patients. We report here the first analysis of 233 U.S. Jewish patients by defined world regions and subregions. Using two different sets of controls (a self-referred Jewish population for Tay-Sachs disease carrier detection and a sample of Jewish persons ascertained through unrelated studies from the same hospital as our patients), we found a significant excess of patients of middle European origin relative to those of Polish or Russian origin. These observations suggest that the inflammatory bowel disease gene(s) are more prevalent in the Jewish population that originated in middle Europe than in those from Poland and Russia. These results further suggest that Jewish patients with inflammatory bowel disease probably represent a nonrandom genetically predisposed subset of the Jewish population. This provides further evidence for the genetic contribution to inflammatory bowel disease in general, and to its higher risk in the Jewish population.

Colitis, Ulcerative↗
PubMed1989

Familial empiric risk estimates of inflammatory bowel disease in Ashkenazi Jews.

Genetic factors have been implicated in the etiology of inflammatory bowel disease (IBD) because of the increased occurrence of IBD in relatives. To further characterize the familial aggregation of IBD, we obtained family histories by interview on 188 IBD patients, including 154 Ashkenazi Jews (82%), ascertained through a Los Angeles gastroenterology practice. Thirty-three index cases (17.6%) had at least one affected first-degree relative; an additional 11 had more distant affected relatives. Thus, 23.4% of our sample had a positive family history. The quantification of empiric risk estimates for various classes of relatives has been quite limited and has been reported in only a few series. An important goal of our study was the determination of the specific empiric risk figures for relatives. We obtained uncorrected risk estimates of 2.5% to off-spring, 5.2% to siblings, and 2.9% to parents. Although the highest risk we observed is to siblings, IBD has a variable and often late age of onset, and it is likely that many relatives, particularly offspring, of patients in this sample have not reached the age at which they will manifest clinical disease. Thus, these uncorrected risks as well as those reported in the literature are an underestimate of the true empiric risks. To provide an estimate of the true lifetime risks, we utilized age-specific incidence data to calculate the following age-corrected empiric risk estimates for IBD: 8.9% to offspring, 8.8% to siblings, and 3.5% to parents. It is these latter age-corrected estimates that are most appropriate for both genetic counseling and genetic modeling.

Adolescent↗
PubMed1989

Birth prevalence rates of skeletal dysplasias.

This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population-based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15,000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 x 10(-5) per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias.

Cross-Sectional Studies↗
PubMed1988

[Etiologic and epidemiologic aspects of neural tube defects].

A case-control study of neural tube defects (NTD) was undertaken from 1979 to 1986 in the department of Bas-Rhin in Northeastern France. For 105,374 consecutive births the incidence of spina bifida was 0.62 in 1,000, the incidence of anencephaly was 0.33 in 1,000 and that of encephalocele was 0.14 in 1,000. Sex ratios were respectively 1.06, 0.64 and 0.75. Among the numerous etiological factors which were studied we observed a seasonal factor (more conceptions in April, less in September). Birth weight and length were lower in children with spina bifida than in controls. Metrorrhagia was more frequent during pregnancies with anencephaly as was oligoamnios in pregnancies with encephalocele. Routine US prenatal diagnosis, which was performed in 90% of the pregnant women, allowed diagnoses in 88% of the fetuses with anencephaly but only in 53% of the fetuses with spina bifida and in 64% of the fetuses with encephalocele. For these last two anomalies diagnosis could often be performed because a malformation was associated with a NTD.

Female↗
PubMed1987

[Congenital malformations in a series of 66,068 consecutive births].

Registration of congenital malformations began in 1979 in the French department of Bas-Rhin. 99.97% of all births were screened. We studied 66,068 consecutive births between 1979 and 1983. Malformations were present in 1.6% of neonates. The incidence of major malformations was 2.01%. The most frequent malformations consisted of congenital heart defects 33.9%). The incidence of the various congenital malformations was studied. Improvement of registration of congenital malformations was the consequence of postnatal and prenatal use of ultrasonography. An increase in the incidence of malformed neonates and fetuses was registered (1.31% in 1980; 2.13% in 1983). The number of termination of pregnancy because of the prenatal discovery of a major malformation has been increasing.

Abortion, Therapeutic↗
PubMed1986

Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis.

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (less than 1%, 9.4% of the malformed). Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers. Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.

Abnormalities, Multiple↗
PubMed1985

A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.

A boy and his mother had dysmorphic features and accelerated growth of prenatal onset suggestive of the Weaver syndrome. Both had endocrinologic abnormalities. The boy had very low, hGH, which did not respond to stimulation. The mother had low, non-stimulate hGH hyperprolactinemia with secondary amenorrhea and galactorrhea. This is the first report of a mother to son transmission of the condition.

Abnormalities, Multiple↗
PubMed1985

[Correlations between pregnancy pathology, study of the placenta, antenatal echography and examination of the product of conception in a series of 175 congenital malformations].

In order to verify the hypothesis that during pregnancy in a woman without peculiar history, signs could be discovered when the fetus is malformed we have reviewed the files of 175 women who had a malformed child and of 300 controls. All of these women had at least one clinical examination and one ultrasonographic examination during pregnancy. Two clinical symptoms were more often discovered in the mother of the malformed fetus (p less than 0.001): decrease of fetal movements and small for date fetus. The placenta is never abnormal in the mother with normal fetus. Placenta is abnormal in 31% of the mother with malformed fetus but the abnormalities are not specific. Ultrasonographic examinations allowed more often the discovery of a malformation when hydramnios (p less than 0.001) or fetal hypotrophy (p less than 0.01) or an anomaly of the morphology of the fetus is discovered. Accuracy of prenatal diagnostic is considered for the different categories of congenital malformations.

Congenital Abnormalities↗
PubMed1984

Discordance for skeletal and cardiac defect in monozygotic twins.

A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were normal.

Diseases in Twins↗
PubMed1984

Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4.

We report two patients whose karyotype revealed an additional segment 1q inserted into an inverted chromosome 4. The patients were partially trisomic for the region 1q24----1q41, karyotype 46,XY or XX, inv ins(4;1)inv(4)(q28;q24q41)(p15 . 3q28), while in the mother the chromosomal aberration was balanced. The inserted segment was inverted. In six patients from three other families with insertions, the segment 1q25----1q32 was inserted into the short arm of chromosome 1. In another patient, the segment 1q25----1q42 of the mother was inverted and inserted into the long arm of chromosome 6. These findings suggest an increased susceptibility for a segment of the long arm of chromosome 1 to be inserted and inverted in rearrangements.

Abnormalities, Multiple↗
PubMed1983

[School attendance of children with trisomy 21. A 4-year experiment].

Four years ago a class was started with 8 children from 7 to 11 years of age with Down's syndrome. The classroom is in a state school. The children lived at home. They were with the other children of the school for several classes and for lunch. Like other children they learned reading, writing and arithmetic. Psychomotricity was emphasized. The children's I.Q. and behavior were studied before entering the class. After 24 to 30 months every child was able to read and write. Their I.Q.'s were retested after 4 years and the results were far better than previously. The children gained confidence and began to cope very well at school and outside school.

Child↗
PubMed1983

Paternal age and Down's syndrome diagnosed prenatally: no association in French data.

An investigation of a paternal age effect independent of maternal age was undertaken for 118 trisomy 21 cases diagnosed prenatally in 6656 amniocenteses. The mean of the difference delta in paternal age of Down's syndrome cases compared to those with normal genotypes after controlling for maternal age was +0.46 with a 95 per cent confidence interval of -0.84 to +1.76. This revealed no evidence for a paternal age effect. Multiple applications of the Mantel-Haenszel test revealed no statistically significant evidence for a paternal age effect independent of maternal age. These results are in agreement with those of Hook and Cross (1982b) but not with claims of Stene et al. (1981), of a strong paternal age effect detected in studies on prenatal diagnosis. The hypothesis suggested by Hook and Cross (1982a) that there is a rather weak paternal age effect independent of maternal age in most if not all populations cannot be excluded. If temporal or geographic factors account for the differences in studies on paternal age effect, extrapolation to other time periods or populations cannot be done.

Adolescent↗
PubMed1983

Reexamination of paternal age effect in Down's syndrome.

The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47, +21 cases was studied. The mean paternal age was 0.16 year greater than in the entire population of live births after controlling for maternal age. There was no evidence for a significant paternal age effect at the 0.05 level. For 242 of these Down's syndrome cases, control subjects were selected by rigidly matching in a systematic manner. Paternal age was the variable studied, with maternal age and time and place of birth controlled. There was no statistically significant association between paternal age and Down's syndrome. After adjustment for maternal age, these two studies were not consistent with an increase of paternal age in Down's syndrome.

Adolescent↗