Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate the genome-wide search, we utilized a DNA pooling strategy which takes advantage of the likelihood that the disease in this inbred kindred is inherited by all affected individuals from a common founder. Equal molar amounts of DNA from all affected individuals were pooled and used as the PCR template for short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected members of the kindred was used as a control. A reduction in the number of alleles in the affected versus control pool was observed at several loci. Upon genotyping of individual family members, significant linkage was established between the disease phenotype and markers localized on chromosome 2. The highest LOD score observed was 5.4 (theta = 0). When four additional small unrelated families were genotyped, the combined peak LOD score was 8.2. Analysis of recombinant chromosomes revealed that the disease gene lies within a 30 cM interval which spans the centromere. Additional fine-mapping studies identified a region of homozygosity in all affected individuals, narrowing the region to 14 cM. A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene.      

Application of an aldrin and dieldrin ELISA to the detection of pesticides in eggs

This paper details the results obtained when a number of egg samples, collected in Egypt from different races of chicken were analyzed for the presence of the organochlorine insecticides aldrin and dieldrin. A simple ELISA was used for the detection and quantification of aldrin and dieldrin. The test was modified for application in this high protein system. Pesticide was detected in 83–352% (14/17) of the samples at levels ranging from 0.006 to 0.7 ppm (0.006 to 0.7 μg ml^‐1). People eating eggs containing these amounts of pesticides which are above the World Health Organisation average daily intake levels would be at increased risk.     

Clinical and radiographic outcomes of total hip arthroplasty with insertion of an anatomically designed femoral component without cement for the treatment of primary osteoarthritis. A study with a minimum of six years of follow-up

We evaluated the clinical and radiographic outcomes of 100 consecutive primary total hip arthroplasties in which a proximally coated anatomically designed femoral component was fixed without cement for the treatment of primary osteoarthritis. The minimum duration of follow-up was six years (average, 7.1 years). The eighty-eight patients who had the arthroplasties were followed prospectively with a standard clinical evaluation that involved use of the Harris hip score and a radiographic evaluation based on the criteria of the Hip Society. Bone ingrowth was evaluated with the method of Engh et al. The average age of the patients at the time of the operation was 62.6 years (range, thirty-nine to eighty-four years). Fifty-one patients were men and thirty-seven were women. The average preoperative Harris hip score was 48 points, with an average pain score of 15 points and an average function score of 26 points. Nonmechanical complications that necessitated a revision operation included one deep hematogenous infection, one late periprosthetic fracture, and a 0.5-inch (1.27-centimeter) limb-length discrepancy. At the time of the most recent follow-up, the average Harris hip score was 96 points, with an average pain score of 42 points and an average function score of 45 points. The prevalence of pain in the anterior part of the thigh was 5 percent (five hips). One patient had a revision of the femoral component because of aseptic loosening, and one had a revision of the acetabular component because of recurrent dislocations. Radiographic assessment revealed consistent evidence of proximal bone ingrowth. No complete radiolucent line was identified, except around the stem that had loosened. Twenty-seven femoral components were associated with slight pedestal formation. No osteolytic lesion of the femur was identified. Nonprogressive pelvic osteolysis was identified in four hips, but none of the lesions were more than two millimeters in diameter. None of the acetabular components migrated, and no radiolucent line of more than two millimeters in thickness was seen around any acetabular cup. The data from this study, in which the minimum duration of follow-up was six years, indicate that the anatomically designed prosthesis can provide good results, with low prevalences of pain in the thigh and loosening of the component, in younger, active patients.     

Establishment of a novel anaplastic large-cell lymphoma-cell line (COST) from a 'small-cell variant' of ALCL.

Anaplastic large-cell lymphoma (ALCL) is a distinct biological and cytogenetic entity with a broad spectrum of morphological features (common type, small-cell variant and lymphohistiocytic variant). Few cell lines of ALCL are available and they all originate from primary tumors demonstrating the common type morphology (ie large-sized lymphoma cells). We established a new ALCL cell line (COST) from the peripheral blood of a patient with a small-cell variant of ALCL, at diagnosis. Cells growing in vitro and in SCID mice consisted of two populations, that is, small- and large-sized cells as seen in the patient's tumor. Both large and small malignant cells were positive for CD43/MT1 T-cell associated antigen, perforin, granzyme B and TIA-1, but negative for CD2, CD3, CD5, CD7, CD4 and CD8 antigens. Standard cytogenetic studies as well as multiplex FISH confirmed the presence of the canonical t(2;5)(p23;q35) translocation, but also revealed additional numerical and structural abnormalities. The COST cell line is the first ALCL small-cell variant cell line, and thus provides a potentially useful tool for further functional and molecular studies that should improve our understanding of the small-cell variant of ALCL, which is more frequently complicated by a leukemic phase.     

Transient osteoporosis of the hip, complete resolution after treatment with alendronate as observed by MRI description of eight cases and review of the literature

Transient osteoporosis of the hip (TOH), also referred to as transient bone marrow edema syndrome, is most common in middle-aged men and often after trivial trauma or sport-related injuries. Diagnosis is usually made by eliminating other possible causes of hip pain. Magnetic resonance imaging (MRI) plays an important role in diagnosis and demonstrates a typical pattern of bone marrow edema (BME) in the form of diffuse low signal on T1-weighted images and high signal on T2 fat-suppressed or short T1 inversion recovery images. No consensus exists about the management of TOH, as it may progress to avascular necrosis. We describe eight cases of TOH treated with alendronate resulting in improvement of pain and function and complete resolution of BME on MRI. The literature is reviewed regarding TOH and the relationship with bone marrow edema syndrome, avascular necrosis of the hip, and regional migratory osteoporosis. To our knowledge, this is the first report describing the improvement of this condition after of alendronate with documented radiological improvement on follow-up MRI.     

Primary infertility associated with schitosoma mansoni: a case report from the Jos plateau,north central Nigeria

Testicular schistosomiasis caused by Schistosoma mansoni is very rare and more so when associated with primary infertility. A 40 years old man from the Jos Plateau, North Central Nigeria presented with primary infertility after ten years of marriage. Sperm count revealed oligospermia and he also complained of inability to sustain erection. Testicular biopsy revealed several ova of Schistosoma mansoni in the connective tissue of the testes. Cases of infertility in endemic areas especially when there is no supply of potable water should raise suspicion of schistosomiasis among other pathologies and possible hormonal disturbances when the testes are involved.