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Biomedical subjects

K Fried

Publications and source records attributed to K Fried.

At least 127 records · Page 7Linked to original sources
PubMed1981

Factor XIII deficiency.

A girl and her newborn brother with factor XIII deficiency from a family, which has not previously been reported, as described; two other Israeli families are reviewed. The sexes are equally affected. In two of the three families there was consanguinity among the parents. The families fit autosomal recessive inheritance and rule out X-linked recessive mode of transmission. The proposita was born to unrelated healthy parents from the Bnei Israel Jewish community of Bombay. She was re-admitted to hospital at the age of 15 days after umbilical bleeding. Later in infancy there were repeated haematomata and the diagnosis of factor XIII deficiency was established at the age of 1 1/2 years.

Child↗
PubMed1980

[Multiple neurotrophic arthropathies resulting from polyradiculo-myelitis (author's transl)].

Multiple chronic neurotrophic arthropathies in the large joints of the lower limbs were observed in a patient with infectious polyradiculomyelitis. The importance of chondro- and osteonecrosis in the course of neurotrophic arthropathies is discussed. Trophic conditions are degenerative changes occurring in a biologically abnormal terrain. The appearance of a neurotrophic arthropathy in a congenital subluxation of the hip is demonstrated.

Acetabulum↗
PubMed1980

A score based on eight signs in the diagnosis of Down syndrome in the newborn.

Experience with a score based on eight signs of Down syndrome is described. The signs are: (1) abundant neck skin, (2) mouth corners turned downward, (3) general hypotonia (4) flat face, (5) dysplastic ear, (6) epicanthic eye-fold, (7) gap between first and second toes, (8) protruding tongue. Examination was done in the first week of life of the newborn to evaluate his score. About five minutes were spent to score a child. An infant with a score of 6, 7, or 8 (showing 6, 7, or 8 signs) is considered clinically proven Down syndrome. When an infant has a score of 0, 1, or 2, the diagnosis is disproved. No false positive or false negative were observed among approximately 19,000 liveobrn infants born in this hospital in a five-year period (1973--1977). All the thirty infants where the diagnosis was considered were karyotyped, twenty-six had regular trisomy 21, and four had a normal karyotype. Of the twenty-one initially suspected cases who were checked for the score, twenty had a score of 6--8 (all had a karyotype of trisomy 21), only one had a score of 0--2 (she had a normal karyotype), and eight had a score of 3--5. This last group is heterogenous as it included five affected infants and three children with a normal karyotype and is the only group where cytogenetic investigation is indicated for diagnostic purposes. It is suggested that this score should be used routinely for the clinical evaluation of every newborn where the possibility of a diagnosis of Down syndrome has been raised.

Diagnosis, Differential↗
PubMed1980

Congenital afibrinogenemia in 10 offspring of uncle-niece marriages.

Two unrelated large sibships, including 10 cases of congenital afibrinogenemia among 27 sibs, are reported. Both sibships were the product of uncle-niece marriages. They were not selected for any particular clinical manifestation and should provide some information on genetic fitness. Six of the patients died in childhood, two affected boys are adolescent and two affected patients are young women. Two of the four survivors had spontaneous ruptures of the spleen. Fitness in this very rare disease seems to be close to zero and the inheritance is autosomal recessive.

Adolescent↗
PubMed1980

Dermatoglyphic peculiarities in hypospadias.

The digital and palmar dermatoglyphics of 33 children with hypospadias were studied. Compared to a control group of 620 normal males the children with hypospadias showed the following statistically significant differences: (1) A lower frequency of whorls and a higher frequency of ulnar loops on fingers (32.4% whorls and 60.0% ulnar loops vs. 42.4% whorls and 50.2% ulnar loops in controls); (2) a high frequency of individuals with hypothenar radial loops on both palms (24.2 vs 8.8% in controls); (3) a high percentage of pairs of homologous fingers with the same pattern type on both fingers (82.4 vs. 73.3% in controls), and (4) an increased degree of bilateral symmetry of finger ridge counts (A, a measure of the asymmetry of ridge counts on homologous fingers, is 6.52 vs 8.08 in controls).

Child↗
PubMed1979

Autosomal recessive sudden unexpected death in children probably caused by a cardiomyopathy associated with myopathy.

The propositus, who died suddenly at the age of 22 months, was investigated because of an unusual myopathy. Family history revealed two sisters and four cousins who had also died suddenly and unexpectedly. The finding of asymmetric septal hypertrophy by echocardiography in the propositus suggested that the cause of the sudden death in the relatives was an undetected cardiomyopathy accompanying a mild and often subclinical myopathy. The affected children were in two sibships and both sets of parents were first cousins. The mother of one sibship was the sister of the father of the other. It is suggested that a gene causes a mild autosomal recessive myopathy with cardiomyopathy that is often undiagnosed and usually ends in sudden unexpected death in the second year of life. The same gene may manifest on echocardiogram in some heterozygotes as asymmetric septal hypertrophy.

Cardiomyopathies↗
PubMed1979

Autosomal recessive lipid storage myopathy (probable carnitine deficiency).

Two sisters died at the age of 17 and 19, respectively, of a myopathy with exacerbations and remissions characterised by pain and weakness of muscles which ended fatally with lactic acidosis and respiratory failure. The clinical picture was very similar to that described in some cases of carnitine deficiency and the histochemical finding of many lipid-filled vacuoles in muscle fibres and the electron microscopical findings were identical to those reported in that disease. The finding of affected sisters supports autosomal recessive mode of inheritance.

Adolescent↗
PubMed1979

A familial extra small marker autosome in persons with normal phenotype.

The propositus was referred because of sterility and oligospermia. His karyotype was 45, XY, t(13q14q). His father was dead; his mother and the only brother, who was fertile, both had 47 chromosomes, but a normal phenotype and normal intelligence. The additional chromosome was three quarters the size of a G chromosome and had satellites on the short and long arms.

Adult↗
PubMed1978

Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease.

Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases previously diagnosed on clinical and histochemical criteria also had a pronounced diminution of sphingomyelinase activity. Both parents of the affected individuals were carriers of the disease as indicated by sphingomyelinase activity intermediate between normal and diseased subjects. Additional heteroxygous carriers were found among the siblings and other relatives of the patients. This family study supports further the hypothesis that the sea-blue histiocyte syndrome and chronic Niemann-Pick (Type B) disease are the same.

Adolescent↗