Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study

In an attempt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5-10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous delta 508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of delta F508 homozygotes could have been coincidental. We conclude that up to the age of 8.5-10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the delta F508 mutation.     

Thorn apple poisoning

A 20-year-old man presented with signs of thornapple intoxication: restlessness, disorientation, hallucinations, euphoria, and furthermore dry and red skin and symmetrical dilation of the pupils. Thornapple intoxication mimics atropine intoxication. Thorn apples (Datura stramonium) are seemingly becoming popular as a hallucinogenic drug. When the symptoms are mild gastric lavage leaving active charcoal in the stomach afterwards will suffice. In case of severe symptoms treatment with physostigmine is indicated.     

Adaptation and validation of antibody-ELISA using dried blood spots on filter paper for epidemiological surveys of tsetse-transmitted trypanosomosis in cattle

The indirect enzyme-linked immunosorbent assay (ELISA) for the detection of anti-trypanosomal antibodies in bovine serum was adapted for use with dried blood spots on filter paper. Absorbance (450 nm) results for samples were expressed as percent positivity, i.e. percentage of the median absorbance result of four replicates of the strong positive control serum. The antibody-ELISA was evaluated in Zambia for use in epidemiological surveys of the prevalence of tsetse-transmitted bovine trypanosomosis. Known negative samples (sera, n = 209; blood spots, n = 466) were obtained from cattle from closed herds in tsetse-free areas close to Lusaka. Known positive samples (sera, n = 367; blood spots, n = 278) were obtained from cattle in Zambia's Central, Lusaka and Eastern Provinces, diagnosed as being infected with Trypanosoma brucei, T. congolense, or T. vivax using the phase-contrast buffy-coat technique or Giemsa-stained thick and thin blood smears. For sera (at a cut-off value of 23.0% positivity) sensitivity and specificity were 86.1 and 95.2%, respectively. For bloodspots (at a cut-off value of 18.8% positivity) sensitivity and specificity were 96.8 and 95.7%, respectively. The implications of persistence of antibodies following treatment or self-cure are discussed.     

Differential acetylcholine and GABA release from cultured chick retina cells

In the present work we investigated the mechanisms controlling the release of acetylcholine (ACh) and of gamma-aminobutyric acid (GABA) from cultures of amacrine-like neurons, containing a subpopulation of cells which are simultaneously GABAergic and cholinergic. We found that 81.2 +/- 2.8% of the cells present in the culture were stained immunocytochemically with an antibody against choline acetyltransferase, and 38.5 +/- 4.8% of the cells were stained with an antibody against GABA. Most of the cells containing GABA (87.0 +/- 2.9%) were cholinergic. The release of acetylcholine and GABA was mostly Ca2+-dependent, although a significant release of [3H]GABA occurred by reversal of its transporter. Potassium evoked the Ca2+-dependent release of [3H]GABA and [3H]acetylcholine, with EC50 of 31.0 +/- 1.0 mm and 21.6 +/- 1.1 mm, respectively. The Ca2+-dependent release of [3H]acetylcholine was significantly inhibited by 1 micrometer tetrodotoxin and by low (30 nm) omega-conotoxin GVIA (omega-CgTx GVIA) concentrations, or by high (300 nm) nitrendipine (Nit) concentrations. On the contrary, the release of [14C]GABA was reduced by 30 nm nitrendipine, or by 500 nm omega-CgTx GVIA, but not by this toxin at 30 nm. The release of either transmitters was unaffected by 200 nm omega-Agatoxin IVA (omega-Aga IVA), a toxin that blocks P/Q-type voltage-sensitive Ca2+ channels (VSCC). The results show that Ca2+-influx through omega-CgTx GVIA-sensitive N-type VSCC and through Nit-sensitive L-type VSCC induce the release of ACh and GABA. However, the significant differences observed regarding the Ca2+ channels involved in the release of each neurotransmitter suggest that in amacrine-like neurons containing simultaneously GABA and acetylcholine the two neurotransmitters may be released in distinct regions of the cells, endowed with different populations of VSCC.     

Mesenteric venous thrombosis after appendicectomy in a child: clinical case and review of the literature

Mesenteric venous thrombosis (MVT) after appendicectomy has not been reported in the pediatric literature. This complication is associated with significant morbidity and mortality rates in adults. The report of this case attempts to analyze the features found in an appendicectomized child documented by radiological examination and surgery before and after starting heparin therapy. Anticoagulation treatment should be started as soon as possible and continued for a long time to decrease the risk of relapse.     

A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI

The breast clinic in the university Hospital Kuala Lumpur was started in August 1993 to cater for the increasing number of women seeking treatment for breast complaints. A four-month survey carried out from January to April 1994 found that Chinese women are more "breast conscious" than Malay and Indian women. The majority of patients were in the reproductive age group. Benign breast diseases form the majority of cases of breast diseases seen. The pick-up rate for new cases of breast cancer was 3.1%. Fine needle aspiration biopsy had a 100% sensitivity during the four-month study, and was a quick method of obtaining a diagnosis.     

Multivariate statistical integration of Satellite infrared and microwave radiometric measurements for rainfall retrieval at the geostationary scale

The objective of this paper is to investigate how the complementarity between low earth orbit (LEO) microwave (MW) and geostationary earth orbit (GEO) infrared (IR) radiometric measurements can be exploited for satellite rainfall detection and estimation. Rainfall retrieval is pursued at the space-time scale of typical geostationary observations, that is at a spatial resolution of few kilometers and a repetition period of few tens of minutes. The basic idea behind the investigated statistical integration methods follows an established approach consisting in using the satellite MW-based rain-rate estimates, assumed to be accurate enough, to calibrate spaceborne IR measurements on sufficiently limited subregions and time windows. The proposed methodologies are focused on new statistical approaches, namely the multivariate probability matching (MPM) and variance-constrained multiple regression (VMR). The MPM and VMR methods are rigorously formulated and systematically analyzed in terms of relative detection and estimation accuracy and computing efficiency. In order to demonstrate the potentiality of the proposed MW-IR combined rainfall algorithm (MICRA), three case studies are discussed, two on a global scale on November 1999 and 2000 and one over the Mediterranean area. A comprehensive set of statistical parameters for detection and estimation assessment is introduced to evaluate the error budget. For a comparative evaluation, the analysis of these case studies has been extended to similar techniques available in literature.