Nephrocalcinosis due to primary hyperoxaluria: case report from Saudi Arabia.

Two Arab siblings with nephrocalcinosis and renal failure secondary to primary hyperoxaluria are presented. Percutaneous renal biopsies obtained from both siblings showed marked oxalate deposition in the renal medulla. Primary hyperoxaluria should be considered in the differential diagnosis of renal failure in infancy and early childhood especially when evidence of obstructive uropathy is lacking.

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.

Effect of hyperthyroidism on hepatic lipogenesis in rats: studies in vivo and in vitro.

Lipogenic rates (measured with 3H2O) in hepatocytes from fed or starved euthyroid rats were similar in magnitude to those measured in livers in vivo. Hepatic lipogenesis in vivo in fed triiodothyronine (T3)-treated rats was greater than in fed control rats, but rates in vitro were only 16% of those of control rats. It is concluded that hepatic lipogenesis in vivo in T3-treated rats utilizes precursors from extrahepatic tissues.

Effect of anthelmintic treatment on the development of resistance in sheep vaccinated or experimentally infected with Dictyocaulus filaria.

This investigation was undertaken to study the immune response of Iraqi sheep vaccinated with Dictyocaulus filaria larvae (Filiraq) and to determine the effect of tetramisole on the development of resistance to reinfection. The findings confirm the effectiveness of Filiraq in conferring protection against experimental infection with D filaria. However, the administration of anthelmintic four weeks after each vaccination interfered with the development of immunity.

Effects of hyperthyroidism on stimulation of [1-14C]oleate oxidation to 14CO2 in isolated hepatocytes from fed rats by the catecholamines, vasopressin, and angiotensin II.

Possible effects of adrenaline, noradrenaline, vasopressin, and angiotensin II to increase 14CO2 production from [1-14C]oleate were examined in hepatocytes from fed L-triiodothyronine (T3)-treated or control rats. Rates of 14CO2 production were decreased and rates of ketogenesis increased in hepatocytes from T3-treated rats. These changes were accompanied by a marked shift of the 3-hydroxybutyrate:acetoacetate concentration ratio towards acetoacetate.

[Bone lesions in Gardner's syndrome: A report on two cases (author's transl)].

Gardner's syndrome consists of the classical triad of bone and soft tissue tumors associated with colon polyps. The two cases reported were familial affections and the typical signs were more or less absent, the characteristic features being the bone lesions.

Short rib-polydactyly syndrome, Majewski type.

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification.

Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.

A newborn with severely shortened ribs, short limbs, and postaxial polydactyly died shortly after birth. Postmortem roentgenograms established the diagnosis of type 3 short rib-polydactyly (SRP) syndrome as described by Naumoff and associates. Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant.

Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia.

Sequential cytogenetic studies of four patients with ataxia telangiectasia showed the progressive development of lymphocyte clones, each marked with a rearranged chromosome 14. Initial studies had shown random chromosomal breaks and rearrangements. Later studies in all patients showed nonrandom rearrangement of chromosome 14 with a breakpoint at 14q12 and with the distal segment translocated to either chromosome 14 or 7.

Ataxia-telangiectasia and hepatocellular carcinoma.

Ataxia-telangiectasia (AT) is a multi-system disease involving the cerebellum, cutaneous blood vessels and the immune system including both cellular and humoral components. It also involves hematological, endocrine and peripheral nervous systems. This disease is often associated with abnormal liver function tests, such as, raised alkaline phosphatase and various nonspecific histological changes in the liver.

Partial trisomy of the long arm of chromosome 7.

A baby with partial trisomy 7, 46, XY,t (5;7) (q35;q31) resulting from a familial translocation (5q+,7q-) is reported. The clinical abnormalities of this case closely resemble those of previously reported cases of partial trisomy 7. It is suggested that partial trisomy 7 may represent a clinical entity.

Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals.