Retinoblastoma: clinical and molecular diagnostic aspects

Retinoblastoma, a tumor of the immature retina concerns babies and young infants in particular. They make up for 14% of malignomas in the first years of life. There are two types of retinoblastoma: In the first two alleles of the gene Rb1 must be inactivated sequentially in the same retinoblast cell until this may escape control. In this case the retinoblastoma is always unilateral and unifocal. This is explained by the lower frequency of two mutations in one retinoblast. The other type, however, is inherited: One allele Rb1 is inactivated in all cells of the organism by mutation. The probability that a second mutation arrives in different retinoblasts is thus high. In this case bilateral multifocal tumors develop. Characterization of the Rb1 gene has permitted identification or at least determination of a haplotype in persons at risk. This knowledge is decisive for early recognition of babies at risk and for genetic counselling.     

Log-linear allometry of fetal craniofacial growth in Down's syndrome

Trisomy 21 develops as a result of nondisjunction of two homologous chromosomes during either the first or second meiotic division. One of the more important consequences of these genetic alterations is the predictable, although variable disturbance in the architecture of the craniofacial region [1]. Postnatal craniofacial morphology has been extensively studied in Down's syndrome (DS). However, little information is available on human prenatal development of the head and face in such patients. The time at which changes in craniofacial phenotype first emerge in Down's syndrome fetuses and at which physical growth begins to diverge from normal is unknown. To explore these questions, we compared prenatal craniofacial growth in 50 Down's syndrome fetuses with that of 555 fetuses judged to be "typical for body weight and age" using the method of log-linear allometry [2].     

The primary aortoenteric fistula in The Netherlands--the unpublished cases

OBJECTIVE: Primary aortoenteric fistula is a rare disorder of which only four patients have been reported in the Dutch literature so far. The objective of our study was to obtain more realistic figures on the incidence of this condition, with data on the clinical presentation, diagnostic procedures, treatment and results in a group of patients not previously reported as "case histories". METHODS: A questionnaire was sent to all surgical clinics in The Netherlands. Out of 180 questionnaires, 102 have been returned reporting 27 patients to which data of eight others treated in our own institution were added. RESULTS: In all but one of these 29 patients the fistula was caused by an atherosclerotic aneurysm, the one exception being caused by an ingested cocktail pin. Gastrointestinal haemorrhage was the predominant symptom, being present in 28 of the patients, while the complete triad of haemorrhage, pain and a pulsating mass was found in only eight patients. Twenty-seven patients were treated with an in situ graft of which 14 are doing well at long term follow-up. CONCLUSIONS: Primary aortoenteric fistula is far more common than one would expect from the number of patients reported in literature. A high index of suspicion based on a complete physical examination remains the key to a correct diagnosis. Direct closure of the intestine and in situ grafting of the aorta is the treatment of first choice.     

Occurrence of gastric ulcer after Nissen fundoplication

Of 160 patients who underwent Nissen fundoplication for treatment of symptomatic peptic reflux esophagitis, five patients (3.1%) developed gastric ulcers. Four of these five patients experienced the "gas-bloat" syndrome. All ulcers were located on the lesser curvature of the stomach. Analyses of our experience with use of various types of hiatal hernia repair suggests that creation of the valvuloplastic mechanism unique to the Nissen procedure may be of etiologic significance in the development of gastric ulcers following this procedure.     

Effects of morphine and halothane anesthesia on coronary blood flow

This study was undertaken to determine the relative effects of morphine and halothane anesthesia on coronary blood flow. Right heart bypass was instituted in 20 dogs by draining the vena cava blood into a cardiotomy reservoir and returning it to the main pulmonary artery. Coronary sinus drainage was measured by a right ventricular cannula. Group I (10 dogs) was sequentially given 0.5, 1, 1.5, 2.0, and 2.5% halothane. Group II (10 dogs) was given 1, 2, 3, 4, and 5 mg per kilogram of morphine intravenously. Arterial pressure, coronary sinus blood flow, cardiac output, arterial pH, PCO2, and PO2 were determined and repeated at each dose level of anesthesia and compared to the control values. Morphine significantly increased coronary flow at 3, 4, and 5 mg/kg without pressure adjustment and at 2 mg/kg after pressure adjustment. Coronary flow with halothane was unchanged from control values except for a decrease at 2.5%. Coronary flow was significantly greater with 3, 4, and 5 mg/kg of morphine than with 1.0 and 1.5% halothane.     

Point-Source Helicity Injection Current Drive System for the Pegasus Toroidal Experiment

Recent Pegasus experiments are developing solenoid-free startup techniques using point-source magnetic helicity injection. These plasma sources, called “plasma guns”, ionize a stream of gas in a discharge channel, and bias this channel with respect to an external electrode, driving current along the plasma stream, which relaxes into a tokamak-like equilibrium. The relaxed discharges formed by these injectors exhibit high current amplification, which is the ratio of total toroidal current to the gun-driven current. The development and present design of these injectors are described, and time traces from a typical discharge are presented.     

Meningocerebral lesions in children with iatrogenic AIDS

This study is focused on structural modifications of leptomeninges and cerebral matter in children deceased because of iatrogenic AIDS. Although we do not evidence the specific lesions of AIDS, we have noticed edema, hyperemia, hematic extravasation, microlesions of the small vessel walls, perivascular infiltrations with lymphocytes, macrophages and even plasmocytes, moderate tigrolysis, mild demyelination, gliosis and sidero-calcic deposits. We do not consider these lesions as specific to HIV-infected patients.     

Tuberculosis and HIV infection. Clinical characteristics and diagnosis

The in vitro radiosensitivity of dermal fibroblasts has been found to vary between individuals, and a number of studies have also shown that this parameter correlates with radiation-induced late injuries in clinical radiotherapy. In addition, certain genetic disorders are known to effect radiosensitivity, e.g. normal tissues of patients homozygous or heterozygous for the ataxia teleangiectasia gene show unusual sensitivity to radiation both in vivo and in vitro. Thus, it has been assumed that there is a genetically determined component resulting in a certain intrinsic cellular radiation response in an individual. To study this possible relationship between different cells of a specific patient, we established eight pairs of dermal and tumor fibroblast cultures. The donor patients had either adenocarcinoma of the uterus or squamous cell carcinoma (SCC) of the head and neck. The radiosensitivity of these strains was determined by a 96-well plate clonogenic assay, previously used by us for radiosensitivity testing of cancer cells. From a paired comparison, the values for the cell fraction surviving 2.0 Gy (SF2), of both fibroblast strains, were found to be on the same level in five out of eight cases. In patient 6, the SF2 of tumor fibroblasts was significantly higher than that of dermal fibroblasts (P=0.0014). In two additional cases the tendency was the same, but not statistically significant. As groups, the two types of fibroblasts did not differ from each other, mean SF2 values of 0.24+/-0.07 and 0.21+/-0.05, respectively. The SF2 of tumor fibroblasts from SCC patients proved to be significantly higher than that of the adenocarcinoma patients (P=0.030). These preliminary results indicate that the in vitro radiosensitivity of tumor fibroblasts correlates with normal cell sensitivity in many cases, but not in all. The radiosensitivity of tumor fibroblasts also seems to follow the level of in vitro radiosensitivity determined for the corresponding histological type of tumor cells. Further studies are needed to determine more closely the relationship between the radiosensitivities of tumor cells and tumor fibroblasts, thus evaluating the possibility of testing radiosensitivity from tumor fibroblasts in order to estimate tumor response.