Beiträge zur Klinik der Bandscheibenverkalkung und-verknöcherung

Ohne Zusammenfassung Mit 7 Textabbildungen.     

A high resolution CEPH crossover mapping panel and integrated map of chromosome 11

High resolution (0.1 cM) CEPH crossover mapping panels were constructed for chromosome 11. These panels will facilitate a transition from top- down physical and genetic mapping strategies to integrated breakpoint mapping strategies. Novel methods, which differ from other methods in overcoming the limitations of incomplete heterozygosity and variable marker density, were developed for creating the panels and integrated maps. This made it possible to identify and sublocalize the majority of crossovers in 61 families. The panels were used to map 139 microsatellite markers. A semi-integrated map and a fully-integrated map were constructed by combining these data with data from CEPH 7.1 and then integrating data from the radiation hybrid (RH) map. Genetic lengths estimated from the mapping panels were similar to the estimates obtained when all recombinant and non-recombinant offspring were included (189.4 cM in females and 126.1 cM in males), indicating that genetic distances are stable at this high marker density. The maps have a cM density of 0.62. The distance between ordered markers is 1.39-2.92 cM depending on the criterion for order and the extent of map integration. The 2D maps provide the resolution and flexibility needed to enhance current applications such as positional cloning and mapping complex disorders; while the mapping panels will greatly improve the resolution, reliability and efficiency of future genetic mapping.      

Management of tuberculosis in Wales: 1986-92

OBJECTIVES: To describe the epidemiology of childhood tuberculosis in Wales and to assess the standard of management of patients with tuberculosis. DESIGN: Retrospective study of data retrieved from case notes and review of radiographs of all identified patients. SUBJECTS: Forty eight cases of tuberculosis and 10 of tuberculosis chemoprophylaxis in children under 15 years of age, in Wales, between January 1986 and December 1992. MAIN OUTCOME MEASURES: Management of childhood tuberculosis in Wales compared with the published recommendations of the Joint Tuberculosis Committee of the British Thoracic Society. RESULTS: Documentation was poor in most of the 48 cases of tuberculosis and only 31 (65%) were formally notified. One third of patients were asymptomatic and were detected by contact tracing; only eight (17%) were culture positive. Only 20% of patients from ethnic minorities had previously been immunised with BCG. Management and chemotherapy varied widely. Few patients were managed jointly by paediatricians and chest doctors. Only 10% completed treatment with a recommended chemotherapy regimen. In 37% of patients treatment was inadequate, and in the remainder either the choice of drugs or the duration of treatment was inappropriate. No patient died, nor had any relapsed by June 1995. CONCLUSIONS: Very few cases of childhood tuberculosis were managed according to the recommendations of the British Thoracic Society.     

The effect of dexamethasone on growth, mineral balance and bone mineralisation in preterm infants with chronic lung disease

The aim of this prospective longitudinal study was to observe the effects of treatment with dexamethasone on somatic growth, mineral balance and bone mineralisation in very low birth weight (VLBW) preterm infants with chronic lung disease (CLD). Dexamethasone was started at a dose of 500 μg/kg body weight per day for 3 days followed by gradually decreasing doses for a total period of 3 weeks' treatment if the infant was still mechanically ventilated in the 3rd postnatal week and had signs of CLD on the chest radiograph. Eleven infants with CLD treated with dexamethasone were studied. Administration of dexamethasone treatment was associated with significantly (P < 0.05) lower weight velocity, head circumference velocity, lower leg length (measured by the neonatal knemometer) velocity compared to pre-treatment changes. The start of dexamethasone treatment was also associated with a fall in calcium absorption (61% to 41.7%, P < 0.05) calcium retention (60.8% to 40.6%, P < 0.05) and phosphate retention (65% to 39.6%, P < 0.05); phosphate absorption was not significantly affected (88.8% to 92%, P > 0.05). Somatic growth and mineral balance improved during the immediate post-treatment period. Acute disturbances of bone mineral content (measured by dual energy radiographic densitometry), plasma calcium and phosphate were also seen but not reaching statistical significance at the P < 0.05 level. Conclusion The start of steroids is associated with a rapid and significant fall in growth velocity, calcium absorption and calcium and phosphate retention in infants with chronic lung disease with recovery occurring after completion of steroid treatment. Received: 15 February 1999 / Accepted: 26 September 1999     

Hereditary coproporphyria and epilepsy

A 9-year-old boy with mental deterioration and epilepsy suffered an acute attack of hereditary coproporphyria associated with worsening of seizure control. Leucocyte coproporphyrinogen oxidase activity was undetectable in the patient during this attack, and was reduced in his mother, a latent case. The complex relationship between porphyria, epilepsy, and anticonvulsant drugs is discussed.     

Sequence Analysis of Different Domains of Plasmodium vivax Apical Membrane Antigen (PvAMA-1 gene) Locus in Iran

Background

Plasmodium vivax is responsible for approximately 80 million malaria cases in the world. Apical membrane antigen1 (AMA-1) is a type I integral membrane protein present in all Plasmodium species. AMA-1 interferes in critical steps of invasion of human hepatocytes by sporozoites and red blood cells by merozoites and is one of the most immunodominant antigens for eliciting a protective immune response in human. It is considered as a promising antigen for inclusion in a vaccine against P. vivax. Since more knowledge is needed to lighten the scope of such antigen we compared genetic variation in P. vivax AMA-1from an Iranian isolate with those reported from some of the other malarious countries so far.

Methods

P. vivax genomic DNA was extracted from the whole blood of an Iranian patient with patent P. vivax infection. The nucleotide sequence for 446 amino acid (AA) residues (42–488 of PvAMA-1) was amplified by PCR and cloned in pUC19 vector for sequencing.

Results

Sequence analysis of the antigen showed a high degree of identity (99%) with strong homology to the PvAMA-1 gene of P. vivax S3 and SKO814 isolates from India and Korea (Asian isolates) respectively, and 96% similarity with P. vivax Sal-1 AMA-1 gene from El Salvador.

Conclusions

We cloned and characterized three domains of PvAMA-1 gene from an Iranian patient. Predicted protein sequence of this gene showed some discrepancies in corresponding protein in comparing with similar genes reported from other malarious countries.     

Parental and neonatal risk factors for atopy, airway hyper-responsiveness, and asthma

BACKGROUND: Previous studies have not resolved the importance of several potential risk factors for the development of childhood atopy, airway hyperresponsiveness, and wheezing, which would allow the rational selection of interventions to reduce morbidity from asthma. Risk factors for these disorders were examined in a birth cohort of 1037 New Zealand children. METHODS: Responses to questions on respiratory symptoms and measurements of lung function and airway responsiveness were obtained every two to three years throughout childhood and adolescence, with over 85% cohort retention at age 18 years. Atopy was determined by skin prick tests at age 13 years. Relations between parental and neonatal factors, the development of atopy, and features of asthma were determined by comparison of proportions and logistic regression. RESULTS: Male sex was a significant independent predictor for atopy, airway hyper-responsiveness, hay fever, and asthma. A positive family history, especially maternal, of asthma strongly predicted childhood atopy, airway hyperresponsiveness, asthma, and hay fever. Maternal smoking in the last trimester was correlated with the onset of childhood asthma by the age of 1 year. Birth in the winter season increased the risk of sensitisation to cats. Among those with a parental history of asthma or hay fever, birth in autumn and winter also increased the risk of sensitisation to house dust mites. The number of siblings, position in the family, socioeconomic status, and birth weight were not consistently predictive of any characteristic of asthma. CONCLUSIONS: Male sex, parental atopy, and maternal smoking during pregnancy are risk factors for asthma in young children. Children born in winter exhibit a greater prevalence of sensitisation to cats and house dust mites. These data suggest possible areas for intervention in children at risk because of parental atopy.     

Development of Sensitive Detection of Cryptosporidium and Giardia from Surface Water in Iran

Background

The protozoan parasites Cryptosporidium spp. and Giardia are known to occur widely in both raw and drinking waters. They are two of the causative agents of waterborne outbreaks of gastroenteritis throughout the world. In the present study, a PCR assay and FA were developed for detection of Cryptosporidium oocysts and Giardia cyst in environmental samples.

Methods

We have detected Cryptosporidium spp. oocysts and Giardia cysts in seeded and unseeded environmental water samples by PCR method. Water samples were spiked with oocysts (50, 100,300,500) and filtrated with a 1.2-µm pore size cellulose nitrate and follow by DNA extraction and purification by QIAamp DNA mini kit. Nested-PCR assay amplified an 850 bp fragment of 18s rRNA gene specific for Cryptosporidium and 435 bp fragment of glutamate dehydrogenase (GDH) target gene for Giardia. Also many river water from north of Iran, be checked by these methods.

Results

Cryptosporidium and Giardia DNAs were detected in seeded water sample and Giardia was detected in all 5 water samples from river in north of Iran by nested- PCR and FA. Also in one river water sample, Cryptosporidium was detected.

Conclusion

This protocol is effective for detection of these waterborne parasites in treated and untreated water samples. This study can also serve as a platform for further investigations and research water source in Iran.