The effect of cyclophosphamide pulses on fertility in patients with lupus nephritis.

The effect of cyclophosphamide pulse therapy given in relatively small doses (10 mg/kg per pulse) in 17 females with lupus nephritis has been studied. Four females developed menopause; in one transient amenorrhea occurred. No changes in menstrual cycle were noted in the other 11 females, four of whom subsequently delivered five normal babies. These data suggest the relative safety of small doses of cyclophosphamide pulse therapy on gonadal function in females under age 40 years.     

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

BACKGROUND. Familial Mediterranean fever is an autosomal-recessive disease characterized by acute attacks of fever with sterile peritonitis, pleurisy, or synovitis. The biochemical basis of the disease is unknown, but determining the chromosomal location of the gene for the disorder should be a first step toward defining the biochemical events. METHODS AND RESULTS. As part of a systematic genome-wide search, we sought evidence of linkage between familial Mediterranean fever and chromosome 16 DNA markers in 27 affected non-Ashkenazi Jewish families from Israel. Two loci from the subtelomeric region of the short arm of chromosome 16 (16p) had lod scores sufficient to establish linkage (a score greater than or equal to 3). One DNA marker (D16S84) gave a maximal lod score of 9.17 (odds of 10(9.17) to 1 in favor of linkage) at a recombination frequency (theta) of 0.04. A probe associated with the hemoglobin alpha complex (5'HVR) gave a maximal lod score of 14.47 at a theta of 0.06. Multipoint linkage analysis indicated that the following was the most likely gene order: the centromere, the gene for familial Mediterranean fever, D16S84, hemoglobin alpha, and the telomere. The maximal multipoint lod score was 19.86. There was a striking degree of homozygosity at chromosome 16p loci in the affected offspring of eight consanguineous couples. CONCLUSIONS. The gene that causes familial Mediterranean fever in non-Ashkenazi Jews maps to the short arm of chromosome 16.     

Micropurification techniques in the analysis of amyloid proteins

This review describes the different microtechniques developed for the extraction and purification of amyloid proteins from small specimens of fresh and formalin fixed tissues. These procedures differ with respect to solvent type, extraction conditions, and protein purification strategy. The advantages and disadvantages of the different microtechniques are discussed by taking into consideration tissue type (fresh of fixed) and size, amyloid type, and its content in the tissue. The review demonstrates the applicability of these techniques for the immunochemical and chemical characterisation of amyloid in different clinical forms of amyloidosis and in experimental small animal models. The clinical value of the applied microtechniques and their importance in the study of the pathogenesis of amyloid related diseases are outlined.     

Integrating health interventions for women, newborn babies, and children: a framework for action

For women and children, especially those who are poor and disadvantaged, to benefit from primary health care, they need to access and use cost-effective interventions for maternal, newborn, and child health. The challenge facing weak health systems is how to deliver such packages. Experiences from countries such as Iran, Malaysia, Sri Lanka, and China, and from projects in countries like Tanzania and India, show that outcomes in maternal, newborn, and child health can be improved through integrated packages of cost-effective health-care interventions that are implemented incrementally in accordance with the capacity of health systems. Such packages should include community-based interventions that act in combination with social protection and intersectoral action in education, infrastructure, and poverty reduction. Interventions need to be planned and implemented at the district level, which requires strengthening of district planning and management skills. Furthermore, districts need to be supported by national strategies and policies, and, in the case of the least developed countries, also by international donors and other partners. If packages for maternal, newborn and child health care can be integrated within a gradually strengthened primary health-care system, continuity of care will be improved, including access to basic referral care before and during pregnancy, birth, the postpartum period, and throughout childhood.     

Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

OBJECTIVE: To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF). METHODS: Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity. RESULTS: Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control the disease compared to the other 3 genotypes. CONCLUSION: The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.