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Biomedical subjects

R Carmi

Publications and source records attributed to R Carmi.

At least 91 records · Page 5Linked to original sources
PubMed1989

Duplication of distal 22q.

We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.

Abnormalities, Multiple↗
PubMed1989

In utero prenatal diagnosis of Beckwith-Wiedemann syndrome; a case report.

The Beckwith-Wiedemann syndrome is an unusual complex of abnormalities that includes mainly omphalocele, macroglossia, natal and postnatal gigantism, visceromegaly and neonatal hypoglycemia. A case is presented where sonographic prenatal diagnosis of this rare condition was made. Prenatal findings and postnatal management are described.

Beckwith-Wiedemann Syndrome↗
PubMed1988

Tricyclic antidepressants and calcium channel blockers: interactions at the (-)-desmethoxyverapamil binding site and the serotonin transporter.

The activity of various calcium channel blockers at the serotonin transporter, as determined by their effects on imipramine binding and serotonin uptake, was investigated in rat brain and human platelets. In addition, the effect of tricyclic antidepressants on the binding of calcium channel blockers was evaluated. Verapamil was found to be a competitive inhibitor of both imipramine binding and serotonin uptake in brain and platelets. The inhibitory activity of verapamil was calcium-independent. Chronic verapamil treatment resulted in a significant decrease (28%) in [3H]imipramine binding in the rat hypothalamus but had no effect on [3H]imipramine binding to cerebral cortex membranes or on [3H]serotonin uptake in these two brain regions. Tricyclic antidepressants inhibited (-)-[3H]desmethoxyverapamil binding but did not affect [3H]nitrendipine binding to rat cerebral cortex membranes. Chronic imipramine treatment induced a non-significant increase (34%) in (-)-[3H]desmethoxyverapamil binding but did not alter [3H]nitrendipine binding in rat cerebral cortex. These interactions may be relevant to an understanding of the beneficial effects of verapamil in major affective disorders and may suggest an involvement of calcium channels in the pharmacological activity of tricyclic antidepressants.

Animals↗
PubMed1988

Pregnancy in women with cerebrotendinous xanthomatosis (CTX): high risk condition for fetus and newborn infant?

Cerebrotendinous xanthomatosis (CTX), is one of the few autosomal recessive progressive storage diseases allowing affected individuals to reproduce. We investigated 38 CTX patients and most of their families. The possibility of a high risk situation for the fetus and/or the apparently healthy newborn infant born to CTX mothers and female carriers of the gene is discussed for genetic counseling purposes and in view of available treatment.

Abortion, Spontaneous↗
PubMed1988

Survival of a premature neonate with obstructive anuria due to Candida: the role of early sonographic diagnosis and antimycotic treatment.

A low birth weight premature neonate with systemic candidiasis developed complete renal obstruction by fungus balls, diagnosed by ultrasonography. The neonate was treated with temporary urinary diversion, amphotericin B, 5-fluorocytosine and survived. This case emphasizes the need for a high index of suspicion of renal obstruction by fungus balls in neonates with systemic candidiasis when renal function deteriorates. In such cases early urinary diversion can be life-saving.

Amphotericin B↗
PubMed1987

Clinical variability of partial duplication 1q: a clinical report and literature review.

A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25----qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.

Abnormalities, Multiple↗
PubMed1987

Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis.

Maple syrup urine disease (MSUD) was diagnosed in four Bedouin infants as a result of the lack of branched-chain keto amino acids (BCKA) decarboxylase activity in leukocytes and skin fibroblasts. Second trimester amniocenteses were performed in five at risk pregnancies for measurement of BCKA decarboxylase. The activity measured in amniocytes was undetectable in two of them. Pregnancy was terminated only in one case and the second continued to term. The diagnosis of MSUD was confirmed in tissues of one aborted fetus, and in leukocytes of the liveborn infant. The other three pregnancies, in which normal enzymatic activity was found in the amniotic cells, were carried to term, and BCKA decarboxylase activity was evident in the leukocytes.

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)↗
PubMed1985

A de novo translocation, 14q21q, with a microchromosome-14p21p.

A familial translocation, t(14;21)(14p21p;14q21q), in a mother and her child is described. The translocation was ascertained through the birth of a Down syndrome baby with the chromosome constitution 47,XX,-14, +der 14, +der 21,t(14;21)(q11;p12) mat. A 1:3 segregation in the maternal meiosis is suggested for the evolution of the unbalanced chromosome state. The main translocated chromosome 14q21q mimics the product of a Robertsonian translocation, while the 14p21p chromosome has the morphology of a satellited microchromosome. The cytogenetic nature of this translocation is discussed.

Adult↗
PubMed1985

Familial meconium ileus with normal sweat electrolytes.

Meconium ileus (MeI) is the presenting symptom in 10 to 15 percent of infants with cystic fibrosis (CF), but it is a rare phenomenon in patients who do not have this disease. We report four Bedouin siblings who had MeI with no laboratory evidence of CF.

Electrolytes↗