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Biomedical subjects

M H Shokeir

Publications and source records attributed to M H Shokeir.

At least 19 recordsLinked to original sources
PubMed1998

Renpenning syndrome maps to Xp11.

Mutations in genes on the X chromosome are believed to be responsible for the excess of males among individuals with mental retardation. Such genes are numerous, certainly >100, and cause both syndromal and nonsyndromal types of mental retardation. Clinical and molecular studies have been conducted on the Mennonite family with X-linked mental retardation (XLMR) reported, in 1962, by Renpenning et al. The clinical phenotype includes severe mental retardation, microcephaly, up-slanting palpebral fissures, small testes, and stature shorter than that of nonaffected males. Major malformations, neuromuscular abnormalities, and behavioral disturbances were not seen. Longevity is not impaired. Carrier females do not show heterozygote manifestations. The syndrome maps to Xp11.2-p11.4, with a maximum LOD score of 3.21 (recombination fraction 0) for markers between DXS1039 and DXS1068. Renpenning syndrome (also known as "MRXS8"; gene RENS1, MIM 309500) shares phenotypic manifestations with several other XLMR syndromes, notably the Sutherland-Haan syndrome. In none of these entities has the responsible gene been isolated; hence, the possibility that two or more of them may be allelic cannot be excluded at present.

Abnormalities, Multiple↗
PubMed1993

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.

Adult predictive and prenatal testing programmes for Huntington's disease (HD) in Canada have been available since 1986. However, the demand for prenatal testing and the reasons why some people choose not to have the prenatal test for this late onset disorder have not been well documented. In addition, the knowledge and attitudes of adult predictive testing candidates and their partners about prenatal testing are not well known nor are the psychological effects of prenatal testing well understood. As of September 1991, 425 subjects had entered the Canadian Collaborative Study of Predictive Testing and, of these, 47 subjects or their partners had become pregnant. Of this group, 14 (30%) couples requested prenatal testing, 24 (51%) couples did not want prenatal testing, and nine (19%) at risk subjects had already received a decreased risk through adult predictive testing and, therefore, were not eligible for the prenatal test. Of the 14 couples who initially requested prenatal testing, seven withdrew. Thus, demand for the prenatal test by eligible candidates was 7/38 or 18%, which is much lower than the 32 to 65% expected based on early survey data. The most frequently cited reason for declining prenatal testing was the hope that a cure would be found in time for their children. While the majority of adult predictive testing candidates (71%) in our study had accurate information about definitive prenatal testing, many (63%) did not have a correct understanding of exclusion prenatal testing. Although no serious adverse events such as suicide planning or admission to psychiatric hospital have occurred, a particular need for careful counselling was identified for those at risk candidates and their partners who have one prenatal test and feel compelled to use the test again in future pregnancies. Even though prenatal testing for HD is not requested as often originally expected, it still remains a desired option for some at risk persons and their partners.

Adult↗
PubMed1990

Amyotrophic lateral sclerosis in a patient with fragile X syndrome.

Fragile X syndrome is a common cause of mental retardation. We report the clinical and pathologic features of a patient with fragile X syndrome who developed amyotrophic lateral sclerosis (ALS) at a relatively young age. Although the occurrence of these 2 diseases could be a mere coincidence, the development of ALS in this patient might be related to the chromosomal aberration of fragile X syndrome.

Adult↗
PubMed1987

Autosomal recessive juvenile cataract in Hutterites.

Autosomal recessive inheritance of juvenile cataract is described amongst several related sibships of Lehrerleut Hutterites. The main features of the cataract include onset between three and seven years of age; rapid progression to maturity within one to three months; normal intelligence; no systemic associations, and no urinary reducing substances and normal erythrocyte galactokinase activity. Genetic analysis demonstrates the close relationship between parents of affected sibships with a coefficient of inbreeding of affected sibships of 0.0512. Estimates of heterozygote frequency within Lehrerleut Hutterites at 0.128 indicate that if current inbreeding practice continues additional cases can be expected.

Alberta↗
PubMed1985

Muscular dystrophy in Saskatchewan Hutterites.

A slowly progressive form of muscular dystrophy was studied in a Dariusleut Hutterite kindred from a colony in west-central Saskatchewan. The disorder combines some characteristics of the dominantly inherited facio-scapulo-humeral and the recessively inherited limb-girdle types of muscular dystrophy. Intellect, vision, hearing, and sensations were normally preserved. Nerve conduction was also intact. The disorder reported herein resembles a type of muscular dystrophy we previously described in the Manitoba Schmiedeleut Hutterites [Shokeir and Kobrinsky, 1976]. This condition, which affects both sexes, appears to be genetic in origin and recessively inherited.

Consanguinity↗
PubMed1985

Juvenile cataract in Hutterites.

Isolated juvenile or congenital cataract is a rare disorder. It occurs commonly as part of a more generalized or systemic condition or as a component of a syndrome. When encountered per se it may be genetically determined. The inheritance then often is autosomal dominant; autosomal recessive transmission of isolated juvenile cataract is rare. Here we present, four sibships from an extensive kindred including nine individuals affected with juvenile (or congenital) cataracts. The kindred belongs to the Lehrerleut Hutterite group from the provinces of Saskatchewan and Alberta in Canada and the state of Montana in the United States. Apart from the cataracts, all the patients were healthy and of normal growth and development. Specifically, no metabolic disorder could be identified. Intellect, hearing and behavior were all normal and the patients were neurologically intact. Furthermore, there were no other ocular lesions aside from the cataracts. In this kindred cataracts appear to be a recessive trait.

Alberta↗
PubMed1984

A family study of renal dysplasia.

A family study was undertaken to investigate genetic involvement in renal dysplasia, which is defined as abnormal metanephric differentiation. Probands were ascertained through the retrospective examination of necropsy records and the reevaluation of available material, which included microscopic examinations of the kidneys, gross descriptions of organs, and gross photographs. We obtained family histories and performed physical examinations and renal ultrasonography on parents and sibs of the 21 probands. In only one family a sibling with renal dysplasia was discovered; both the proband and the previous stillborn sib had renal dysplasia in association with posterior urethral values. Renal dysplasia could have resulted from urinary tract obstruction secondary to the urethral valves, with inheritance of the valves as the primary abnormality. However, we cannot exclude primary inheritance of the renal abnormality, perhaps with multifactorial determination with a threshold. The empiric recurrence risk of 2.1%, calculated from this family study, was statistically not significantly different from zero. We can assume, therefore, that the multicystic and aplastic types of renal dysplasia, which predominated in this study, are sporadic or rarely familial, but certain other types of renal dysplasia, identified in the literature as familial, probably carry a higher recurrence risk.

Abnormalities, Multiple↗
PubMed1981

Separating Pena-Shokeir I syndrome from the "arthrogryposis basket".

The Pena-Shokeir I syndrome is characterized by prenatal onset of growth deficiency, a specific constellation of facial features, multiple ankyloses, camptodactyly, and talipes equinovarus and is almost invariably fatal. A common and perhaps specific radiographic sign is that of subluxations at interphalangeal joints of the fingers, present in four of six patients described here. This autosomal recessive syndrome should be differentiated from arthrogryposis multiplex congenita on the basis of the unusual facial configuration and early lethality, even when interphalangeal subluxations are absent.

Abnormalities, Multiple↗
PubMed1978

Expression of "adult" polycystic renal disease in the fetus and newborn.

The manifestations of "adult" polycystic disease of the kidneys are reported in fetal life and during infancy. At the time of diagnosis, the patients in whom the disorder was detected were a stillborn fetus, a liveborn baby immediately after birth, a neonate at 3 weeks of age, and three infants between 2 1/2 and 4 months of life. In all six cases, who were unrelated, similar implication of other family members was elicited, and in four, parental disease was documented. As expected, the disorder in these families was transmitted in an autosomal dominant fashion. Apart from the youngsters reported here, all the other known patients in the respective families were of adult age. The disease was fatal in all of our patients, with death ensuing (except, of course, in the stillbirth) from hours to weeks after the diagnosis. This report underlines the variability in the age of expression and the mode of presentation of "adult" polycystic kidney disease.

Chromosome Aberrations↗