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Biomedical subjects

K Fried

Publications and source records attributed to K Fried.

At least 145 records · Page 8Linked to original sources
PubMed1978

Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotyping was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so too was one of the two maternal uncles of the proposita, indicating that the translocation was already present in one of the grandparents who were not available for examination. This family suggests that triplication of the distal part of the long arm of chromosome 18 is not necessary to produce Edwards' syndrome.

Chromosomes, Human, 16-18↗
PubMed1978

[The overgrowth of cartilaginous and fibrous structures in Paget's Disease (author's transl)].

The overgrowth of cartilaginous and fibrous tissue of the spine in Paget's disease is described in long-term follow-up studies. On cervical manifestation the disease progressed from one vertebrae to the other with destruction of the intervertebral discs, fusion of the vertebral bodies and intervertebral joints and shortening of the affected area. On the lower thoracic and lumbar spine osteomalacia with collapse of the vertebral bodies and biconvex deformities of the discs were seen in the initial period. Several years later the discs flattened, vaulted and fused in the periphery by dystrophic bone. Fusion of the corresponding intervertebral joints and ossification fo the intervertebral ligaments developed. The involved spine was shortened. The sarcroiliacal joint spaces were obliterated in cases with involvement of adjacent bones by Paget's disease. The overgrowth advanced from the periphery towards the center. Ankylosis of sacroiliacal joints has also been observed without fusion of the intervertebral disc spaces. Relatively low age, loss of height, invalidating bone pains and osteomalacia of the pelvis were the main features in cases with spinal changes. Osteomalacia of the spine followed by ossification of intervertebral ligaments and joint capsules and later by vertebral fusion are considered to be a special form of Paget's disease.

Adult↗
PubMed1977

High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.

Spinal muscular atrophy (S.M.A.) type I (Infantile werdnig - Hoffmann Disease) was found in 4:1,600 (1:400) infants of the Egyptian Karaite community. This group constitutes a representative sample of the Egyptian Karaite community in Israel, which numbers at present somewhat more than 7,000. The community existed as a religious and reproductive isolate for over 10 centuries. The very high gene frequency, 0.05 for the autosomal recessive gene of S.M.A. type I, is probably the result of genetic drift.

Child, Preschool↗
PubMed1977

Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.

A girl with severe mental retardation and odd facies and some features of the cri-duchat syndrome was found to have only 45 chromosomes. Her karyotype was 45,XX, -5, -14,+der(5) t(5,14)(p15;q13) mat. Her mother and her two sisters were found to be balanced reciprocal translocation carriers having 46 chromosomes, one of which was a very small (14pter leads to 14q13::5p15leads to 5pter) that was missing in the proposita.

Child↗
PubMed1977

Autosomal recessive hydrotic ectodermal dysplasia.

First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while the female had a branchial cyst on the left side of the neck. The parents of both the cases were completely normal. The patients had distinct clinical similarity to the condition described by Witkop (1965) as 'Autosomal dominant dysplasia of nails and hypodontia' but the nails were less affected and the mode of inheritance was completely different.

Child, Preschool↗
PubMed1977

De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22).

A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits.

Chromosome Aberrations↗
PubMed1977

Severe lower limb malformation associated with other deformities and death in infancy in two brothers.

Two brothers with severe and rare lower limb malformations but normal upper limbs are described. Both brothers had glans hypospadias and they died in early infancy. In the first brother the limb malformation was a severe deformity of the right foot which was split and of rockerbottom shape with oligosyndactyly. In the second brother the right limb below the knee was more severely deformed while only the toes were involved in the left limb. Details of the clinical and pathological findings are described. The most likely mode of inheritance of this rare syndrome is autosomal recessive or X-linked recessive with variable expressivity.

Abnormalities, Multiple↗
PubMed1977

Probable autosomal recessive Marfan syndrome.

A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all four grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrome and that in some rare families the mode of inheritance may be autosomal recessive.

Child↗
PubMed1977

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.

An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome.

Adult↗
PubMed1976

Absence of distal interphalangeal creases of fingers with flexion limitation.

An Ashkenazi Jewish family is described, in which absence of distal interphalangeal creases of fingers with flexion limitation is transmitted through 4 generations with 8 affected individuals. The malformation is caused by an autosomal dominant gene with full penetrance and variable expressivity, and causes only little inconvenience. In one case the joints were normal on radiological examination. The malformation was not associated with any other anomaly except in the propositus who was referred becaused of profound mental retardation and cerebral palsy. This association is probably fortuitous as the other affected members were of above average intelligence. We were unable to find any report on this anomaly without associated malformations.

Adolescent↗
PubMed1976

Trisomy 13 mosaic presenting as cleft lip and palate.

A mosaic trisomy 13 presenting as a case of cleft lip and palate in the newborn is described. However, when the child was admitted to hospital at the age of 6 weeks because of failure to gain weight and a malformation of the great vessels was demonstrated, cytogenetic studies were carried out. The diagnosis of mosaic trisomy 13 (90% normal, 10% trisomic) was established from a leukocyte culture. Since, occasionally, mosaic trisomy 13 may mimic cleft lip and palate in the newborn, cytogenetic studies are indicated in the presence of any additional anomaly.

Chromosomes, Human, 13-15↗
PubMed1976

The karaite community of Iraq in Israel: a genetic study.

Ninety-eight of 136 (72%) individuals at least 6 years of age from a small isolate of the Karaite community, known to have lived in Iraq since the tenth century, were examined. In Iraq this group maintained a highly inbred existence but married Karaites from Egypt after their immigration to Israel in 1951. Observations of several unique gene frequencies for blood group and isoenzyme markers, not described among other Jewish groups, are explicable by isolation and genetic drift in a very small community.

ABO Blood-Group System↗
PubMed1976

[Effect of gamma radiation on the blood count in chickens].

Postirradiation changes were investigated in 58 days old chicken that had been exposed, in an open experimental gamma field, to a continuous irradiation with Co60 with a flow of 60 R per day for a period of 30 days. Hematological examination was carried out after the total exposure to 600 R, 780 R, 1020 R, 1500 R, and 1800 R. More pronounced changes were recorded in the white blood count and in the number of thrombocytes, whereas no significant changes were found in the number of erythrocytes even after 30 days' irradiation. Leucopenia was found to occur in the case of 780 R and more. A significant lymphopenia occurred only in the case of 600 R and 780 R. Basophils responded more sensitively than did eosinophils. A highly significant thrombocytopenia was ascertained in the case of the total exposure from 780 to 1800 R. Hemorrhage, as a symptom of postirradiation diathesis, was not found.

Animals↗
PubMed1975

Familial primary vesicoureteral reflux.

Two families with all children affected by primary vesicoureteral reflux are reported. Both sets of parents were examined and only in one family the mother was also affected by unilateral reflux. This congenital lesion has only recently been recognized as a common disease, but because diagnosis depends on voiding cystography, it is not made until the child or adult becomes symptomatic or presents with end-stage renal disease. As most cases are sporadic, a multiple factorial mode of inheritance is most probable, but an autosomal dominant or recessive gene cannot be excluded as the cause of the disease in some families. It is recommended that all first degree relatives of the patients should be investigated, in order to detect asymptomatic cases of this condition, which is likely to cause progressive renal damage and may have fatal termination due to renal failure.

Child↗