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Biomedical subjects

G Mundel

Publications and source records attributed to G Mundel.

At least 37 records · Page 2Linked to original sources
PubMed1980

Multiple meningiomas in separate neuroaxial compartments in a child.

A case of a child with multiple meningiomas in separated neuroaxial compartments is reported. The first tumor was in the frontal region and was removed surgically when first diagnosed 8 years prior to the appearance of the other tumor. The second tumor was located in the foramen magnum region, and reached considerable dimensions before becoming symptomatic and giving signs of brain stem compression as evidenced by progressive spastic tetraparesis and respiratory disturbances, without hydrocephalus. The diagnosis was confirmed by a low CT scan section, the tumor was successfully removed with the aid of the microscope and the patient made a good recovery.

Adolescent↗
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

De novo simultaneous reciprocal translocation and deletion.

A female infant with severe mental retardation, general hypotonicity, and a history of generalised oedema, cyanosis, heart murmur, and nystagmus in the first days of life was found to have both a translocation and a deletion. Her karyotype was 46,XX,del(21)t(18;21)(18p ter leads to 18q11::21q21 leads to 21qter;21pter leads to 21q11::18q11 leads to 18q ter). The karyotype of both parents was normal. The proposita is the result of a three break point exchange and is monosomic for part of the dark band q11 q21 of chromosome 21. It is suggested that in cases with mental retardation and apparent balanced de novo reciprocal translocation a small undetected deletion in one of the chromosomes involved in the translocation could explain the mental retardation.

Chromosome Deletion↗
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

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↗
PubMed1976

Prevention of the respiratory distress syndrome in premature infants by antepartum glucocorticoid therapy.

A trial of antepartum dexamethasone therapy was carried out in 55 mothers in whom premature delivery threatned between 28 to 36 weeks gestation in the hope of reducing the incidence of respiratory distress syndromes (RDS). The control group was made up of 62 mothers who delivered prematurely in the same gestational age without any treatment. In the treated group isoxsuprine was used to delay delivery when necessary. The respiratory dif infants (8.3 per cent) than in the controls (35.2 per cent; p less than 0.001). The difference was more marked in babies of under 32 weeks gestation. Considering only cases with intact membranes the incidence of RDS was significantly (p less than 0.01) lower in the treated group. Early neonatal mortality was 6.6 per cent in the treated group and 38 per cent (p less than 0.0001) in the controls. In 12 cases the L/S ratio was measured during dexamethasone administration and in the majority of these the L/S ratio rose sharply to mature values following treatment. This rise was observed as soon as 48 hours after beginning of dexamethasone. Antepartum isoxsuprine in the treated group had no apparent effect on the incidence of RDS. No adverse effects of steroid therapy were observed. This trial confirms the studies of others that antepartum glucocorticoid can significantly reduce the incidence of RDS in premature infants.

Amniotic Fluid↗
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↗