Genotype/phenotype correlations in Arab patients with familial Mediterranean fever

OBJECTIVES: To study the phenotype/genotype correlations in Arab patients with familial Mediterranean fever (FMF). PATIENTS AND METHODS: The study was performed in a 3-year period (February 1998-February 2001). Patients were seen in the pediatric FMF clinic of Jordan University Hospital, and the diagnosis of FMF was made according to published criteria. Screening for mutations was carried out by direct sequencing of the entire coding sequence of exon 10 and its donor splice site and by restriction endonuclease testing for mutations in exon 2. A total of 278 patients with clinically positive FMF were screened. RESULTS: Of the 278 patients, 50 (18%) had 2 mutations identified, and 76 (27%) other patients had only 1 mutation identified. The 50 patients with 2 mutations are the subject of this report. The M694V/M694V and the M694V/V726A and M694I/M694I genotypes were the most common (30%, 16%, and 14%, respectively). Three homozygous genotypes (M694V/M694V, V726A/V726A, and M694I/M694I) and 2 compound heterozygous genotypes (M694V/V726A and V726A/M680I) accounted for 78% of mutations. The difference in the mean severity score (14 +/- 2) of the M694V/M694V group and the V726A/V726A (mean severity score, 10 +/- 3) and M694I/M6941 (mean severity score, 6 +/- 1) groups was statistically significant (P =.003 and.0, respectively). The difference between the M649V/M694V group and the M694V/V726A (mean severity score, 15 +/- 2) was not statistically significant (P = 0.31). CONCLUSIONS: The genotypes M694V/M694V and M694V/V726A have a severe clinical course in Arab patients with FMF, whereas the M694I/M694I is associated with mild disease.     

Toxicity of venalot (a mixture of coumarin and troxerutin) in the baboon

Venalot, a mixture of coumarin and troxerutin, in the proportion 1 to 6 respectively, was given orally to baboons at dosages of 0, 100, 300 and 1000 mg/kg/day for 26 weeks. Vomiting, usually within 3 h of administration and considered to be of central origin, in addition to vomiting immediately after dosing, was noted in animals receiving 1000 mg/kg/day. At this level, collapse on several occasions in two animals, one of which died, was also observed. Another animal receiving 1000 mg/kg/day was killed for humane reasons following a period of weight loss, reduced appetite and deterioration in body condition. However, no adverse effect on body weight gain, food or water consumption, ophthalmoscopic or electrocardiographic examinations were noted in any other animals during this study. Increased levels of liver function (serum leucine amino-peptidase (LAP), and serum ornithine carbamyl transferase (OCT) were noted during the dosing period, together with slightly increased liver weights terminally for animals receiving 1000 mg/kg/day; however, as no morphological or ultrastructural changes were noted, these findings were considered to be attributable to hypertrophy.     

Exchange transfusion treatment of methylmercury-poisoned children

Three children, ages 6 months, 13 months and 10 years were treated by exchange transfusions following exposure to methylmercury in the Iraq outbreak in 1971-72. Two had severe signs of poisoning and the other was clinically normal but had a high blood mercury concentration. Exchange transfusion resulted in clearance of mercury not only from blood but also from other tissues. The average amount of mercury removed in a two hour exchange was estimated as 6% of the body burden as compared to 1% of the body burden removed by normal excretion processes in 24 hours. No dramatic improvement in the clinical condition of the two poisoned patients occurred. Some improvement in motor power and function was observed during follow-up visits to their houses.     

New cases of diabetes mellitus in England and Wales, 1994-1998: database study

OBJECTIVE: The objective of this study was to estimate the annual rate of diagnosis of new cases of diabetes mellitus in England and Wales, and the number of new cases in each year. STUDY DESIGN: Cohort study. METHOD: Analysis of electronic patient records from the General Practice Research Database, using 208 general practices with a total list size of 1.3 million patients. RESULTS: We estimate that the national rate of diagnosis of new cases of diabetes in England and Wales was 17.5 [95% confidence intervals (CI) 16.6--18.4] per 10,000 person-years in 1994 and 22.1 (95%CI 21.2--23.0) per 10,000 person-years in 1998. We estimate that there were 87,642 new cases of diabetes mellitus in England and Wales in 1994 and 111,345 in 1998. CONCLUSIONS: We estimate that the rate at which new cases of diabetes were diagnosed rose by about 26% in England and Wales from 1994 to 1998. This conclusion was unchanged when we took account of the ageing of the national populations between the beginning and end of the study period. We estimate that the number of new cases of diabetes diagnosed each year in England and Wales also increased by one-quarter over the same period. If the number of cases and the rate at which they are diagnosed continues to increase, this will need to be considered by those planning services for people with diabetes.     

A 2-year follow-up of orphans' competence, socioemotional problems and post-traumatic stress symptoms in traditional foster care and orphanages in Iraqi Kurdistan

BACKGROUND: This paper aims to compare orphans' development in two different care systems. METHODS: Based on age, sex, psychological trauma scores, competence and psychological problem scores, two comparable samples were found representing orphans in the traditional foster care (n = 94) and the orphanages (n = 48) in a middle-large city in Iraqi Kurdistan. At an index interview, Child Behaviour Checklist (CBCL), Harvard-Uppsala Trauma Questionnaire for Children and Post-traumatic Stress Symptoms for Children (PTSS-C) were administered to the caregivers. After 1 year the CBCL, and after 2 years both the CBCL and the PTSS-C, were-re-administered, consecutively. RESULTS: Although both samples revealed significant decrease in the means of total competence and problem scores over time, the improvement in activity scale, externalizing problem scores and post-traumatic stress disorder-related symptoms proved to be more significant in the foster care than in the orphanages. While the activity scale improved in the foster care, the school competence deteriorated in both samples, particularly among the girls in the orphanages. The improvement of boys' activity scores in the foster care, and deterioration of girls' school competence in the orphanages were the most significant gender differences between samples over time. CONCLUSIONS: Even if the two orphan care systems showed more similarities than differences, the foster care revealed better outcomes over time. The results are discussed in relation to gender, age, socio-economic situation, cultural values and the characteristics of each care system.     

Cardiac arrhythmia as presentation of snakebite

Snakebite cases may have myriad presentations. we are describing a previously healthy young man presenting within half an hour of snakebite who experienced abrupt fatal cardiac rhythm changes ranging from bradycardia to ventricular tachycardia/fibrillation over a short span of time.     

Association between mortality from suicide in England and antidepressant prescribing: an ecological study

Background

There are multiple studies in different countries regarding the prevalence of vitamin D deficiency. These studies showed high prevalence of vitamin D deficiency in Asian countries. This study tries to elucidate the prevalence of vitamin D deficiency and its influencing factors in population of Tehran.

Methods

1210 subjects 20–64 years old were randomly selected. 25 (OH) D serum levels were measured. Duration of exposure to sunlight, the type of clothing and level of calcium intake and BMI were quantified based on a questionnaire.

Results

A high percentage of vitamin D deficiency was defined in the study population. Prevalence of severe, moderate and mild Vitamin D deficiency was 9.5%, 57.6% and 14.2% respectively. Vitamin D serum levels had no significant statistical relation with the duration of exposure to sunlight, kind of clothing and BMI. Calcium intake in the normal vitamin D group was significantly higher than the other groups (714.67 ± 330.8 mg/day vs 503.39 ± 303.1, 577.93 ± 304.9,595.84 ± 313.6). Vitamin D serum levels in young and middle aged females were significantly lower than the older group.

Conclusions

Vitamin D deficiency has a high prevalence in Tehran. In order to avoid complications of vitamin D deficiency, supplemental dietary intake seems essential.     

How are primary care organizations using financial incentives to influence prescribing?

METHODS: Primary care organizations (PCOs) in England are required to run a prescribing incentive scheme. The average payment received by general practitioners (GPs) under these schemes is not known. We conducted a longitudinal (2 year) questionnaire study of all PCOs in London and the south east of England aiming to explore the relationship between the financial incentives, the selection of prescribing indicators and success at remaining within budget. In the second year, the average reward per GP amounted to 1220 pounds (range 470 pounds-4330 pounds). Underspent PCOs made larger incentive scheme payments to their practices as did PCOs that had successfully overturned a first year overspend into a second year underspend. The size of rewards was unrelated to the selection of any particular cost- or quality-based prescribing indicator. We conclude that larger prescribing incentive scheme payments may have contributed to prescribing cost control but their effect on prescribing quality is uncertain.