Low vision counseling with children--exemplified by a sibling pair with congenital nystagmus

We describe several visual aids that were given to two visually impaired children from our low-vision service of St. Gallen Eye Hospital. Visual aids alone do not guarantee success as collaboration between the ophthalmologist, the low-vision trainer, the child and his parents is fundamental.     

Cell culture of tumors alters endogenous poly(ADPR)polymerase expression and activity

Poly(ADP-ribose)polymerase, a chromatin-bound enzyme, actively participates in processes such as cell proliferation, differentiation, and DNA repair and replication. This enzyme is also implicated in cell transformation, and its inhibition has been proposed to potentiate anti-cancer drug activity. Since cells prepared from tumor biopsies and established tumor cell lines are commonly used to evaluate the efficiency of anticancer therapies, we have compared poly(ADP-ribose)polymerase activity in animal tumor cells growing in vivo and in cell culture. Three tumor types were tested: a mastocytoma (P815), a lymphoma (RDM4). and a glioma (C6). Our results show that cell culture alters poly(ADP-ribose)polymerase levels and activity. Endogenous poly(ADP-ribose) activity was several fold higher in exponentially growing cells than in cells freshly recovered from solid or ascitic tumors. Moreover, polymerase activity increased with culture time, reaching a maximum when cells became confluent. Measurements of poly(ADP-ribose)polymerase gene expression and protein amount indicate that lower enzyme activity in tumors grown in vivo are sustained by decreases in poly(ADP-ribose)polymerase mRNA and protein amount. In contrast, the increase in endogenous poly(ADP-ribose)polymerase activity observed in cultured cells was due to enzyme activation and not to de novo protein synthesis. Such differences must be considered when assessing the applicability of cell-culture results to in vivo situations.     

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis

The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. To test these questions, we measured RBC spectrin and ankyrin by radioimmunoassay in 39 patients from 20 families with dominant HS. Normal RBCs contained 242,000 +/- 20,500 spectrin heterodimers and 124,500 +/- 11,000 ankyrins per cell. In dominant HS, RBC spectrin and ankyrin ranged from about 40% to 100% of normal and were continuously distributed. Measurements in the same patient on different occasions were reproducible (+/- 5% to 10%) and RBCs from affected members of a kindred contained similar amounts of spectrin and ankyrin (+/- 3% to 4%). Spectrin and ankyrin levels were almost always less than the assay controls, but were less than the normal range in only 75% and 80% of kindreds, respectively. Remarkably, the degree of RBC spectrin and ankyrin deficiency was very similar in 19 of 20 HS kindreds. One otherwise typical family differed, with marked ankyrin deficiency (45% of control) and a relatively mild spectrin deficit (81%). We conclude that most patients with dominant HS have combined ankyrin and spectrin deficiency and that the two proteins are usually about equally deficient, suggesting that defects in ankyrin expression, ankyrin stability, or ankyrin band 3 (AE1) interactions may be common in dominant HS.     

Migraine with aura shows gadolinium enhancement which is reversed following prophylactic treatment

A 26-year-old patient complained of a series of migraine attacks with aura accompanied by slight pleocytosis and gadolinium (Gd-DTPA) enhancement next to the left middle cerebral artery. The migraine attacks and Gd-DTPA enhancement were reversible during prophylactic treatment with flunarizine.     

Cytomegalovirus-associated necrotizing enterocolitis in a preterm twin after breastfeeding.

Cytomegalovirus (CMV) in breast milk is transmitted to infants and may be associated with disease especially in preterm infants. We present a preterm twin with postnatally acquired CMV infection and evidence of CMV-associated necrotizing enterocolitis.