Recent advances in diagnosis of the childhood muscular dystrophies

Abstract: Recent advances in molecular genetics research have revolutionised our understanding of the childhood muscular dystrophies. The first breakthrough came in 1987 with the identification of the gene for dystrophin, the protein that is abnormal in X-linked Duchenne muscular dystrophy. Dystrophin is bound to a complex of proteins in the muscle membrane, and primary abnormalities of these protein have now been identified as the cause of some autosomally inherited forms of muscular dystrophy. A group of transmembrane proteins known as α- (adhalin) β-, γ- and δ-sarcoglycan are deficient in autosomal recessive limb-girdle muscular dystrophy, and the extracellular matrix protein merosin (α2-laminin), is deficient in a subset of patients with congenital muscular dystrophy. Identification of primary deficiencies in these 'dystrophin associated proteins' will result in improved diagnostic accuracy, more accurate genetic counselling and, in some cases, the availability of prenatal diagnosis.     

Impact of chronic undernutrition on higher mental functions in Indian boys aged 10–12 years

Undernourished rural children 10–12 years of age demonstrated the following, when compared to normal nourished children: (i) a relative deficit of memory quotients assessed by the Wechsler memory scale; (ii) lower scores for abilities related to personal and current information, orientation, mental control, logical memory, digit span, visual reproduction and associative learning; (iii) impaired set formation and flexibility in attention as assessed by the card sorting test; and (iv) impairment in conditional learning on maze and conditional associative learning tests. The performance on the finger dexterity test for fine motor coordination was not affected in undernourished children.     

Diverticulitis versus colon cancer: differentiation with helical CT findings

PURPOSE: To retrospectively determine the computed tomographic (CT) signs associated with diverticulitis or colon cancer, and to prospectively apply these signs in the differentiation of these diseases. MATERIALS AND METHODS: Fifty-eight CT scans in cases of proved diverticulitis (n = 27) or colon cancer (n = 31) were evaluated retrospectively by radiologists (blinded to the proved diagnosis) for the presence or absence of previously reported CT findings. These findings were correlated with the pathologic or final clinical diagnosis. The retrospective findings were applied in a prospective evaluation with a new set of 72 CT scans. The same five radiologists rendered a diagnosis according to a five-point confidence scale from definitely benign to definitely malignant. Individual and consensus readings were correlated with the final diagnosis. RESULTS: Retrospectively, pericolonic inflammation (P < .01) and segment involvement greater than 10 cm (P < .012) were the most significant findings for diverticulitis; pericolonic lymph nodes (P < .0001) and luminal mass (P < .003) were the most significant findings for colon cancer. Prospectively, an unequivocal diagnosis was made correctly in 16 (40%) of 40 cases of diverticulitis and 21 (66%) of 32 cases of colon cancer. CONCLUSION: When there are no pericolonic lymph nodes adjacent to a segment of colonic wall thickening, with pericolonic inflammatory changes, the most likely diagnosis is diverticulitis. When pericolonic lymph nodes are present, with or without pericolonic edema, the most likely diagnosis is colon cancer.     

ATRIAL FIBRILLATION IN THE ELDERLY: PHYSICIANS' ATTITUDES TO ANTICOAGULATION

SUMMARY The use of warfarin and aspirin for the primary prevention of stroke in elderly patients with atrial fibrillation (AF) is controversial. To establish current practice we circulated a questionnaire to 300 geriatricians (G) and 300 cardiologists (C). The response rates were 47% G and 51% C. Most physicians prescribed warfarin in AF associated with mitral stenosis (G vs C, 86% vs 89%, NS). Cardiologists were more likely to prescribe warfarin in AF associated with dilated cardiomyopathy (G vs C, 52% vs 86%, P<0.01). A minority would prescribe warfarin in aortic valve disease and AF (G vs C, 37% vs 24%, P<0.05) and lone AF (G vs C, 10% vs 26%, P<0.01). Aspirin was favoured in aortic valve disease and lone AF. The cardiologists were less reluctant to use warfarin in the young and more likely to electrically cardiovert the young with chronic AF.     

Neoplasms of the perivascular epithelioid cell involving the abdomen and the pelvis: cross-sectional imaging findings

Neoplasms of the perivascular epithelioid cell (PEComas) represent a recently described heterogeneous group of mesenchymal tumors characterized by the presence of specific histological, immunohistochemical, and ultrastructural findings. The PEComas encompass a family of neoplasms that include angiomyolipomas, clear cell sugar tumors, and lymphangioleiomyomatosis. The PEComas demonstrate a wide spectrum of clinicobiological behavior and imaging findings. Perivascular epithelioid cell, as the name implies, is a unique cell that is characterized by perivascular distribution and epithelioid morphology. Perivascular epithelioid cell consistently shows immunoreactivity to melanocytic and smooth muscle markers including HMB-45 and actin. Abdominopelvic PEComas are found at a variety of somatic and visceral locations including kidney, liver, pancreas, gastrointestinal tract, genitourinary tract, peritoneum, and retroperitoneum. A subset of patients with abdominopelvic PEComas manifests tuberous sclerosis complex. In this paper, we review the histological spectrum and discuss the imaging findings of the PEComas that involve the abdomen and pelvis.     

Chronic anemia due to parvovirus B19 infection in a bone marrow transplant patient after platelet transfusion

BACKGROUND: Many reports document the transmission of human parvovirus B19 (B19) infection by clotting factor concentrates manufactured from large plasma pools. Transmission via other blood components originating from a single donor or a small number of donors, however, seems to occur only rarely. The study reported here identifies a B19 infection that was transmitted via a platelet donation. CASE REPORT: A multiply transfused allogeneic bone marrow transplant patient developed chronic anemia due to persistent B19 infection. The anemia responded to therapy with intravenous immunoglobulin. It was postulated that a transfusion was the source of the B19 infection. Archived sera from 90 implicated blood donors were tested for B19 IgM and DNA by the use of dot-blot hybridization and a nested polymerase chain reaction with primers from the B19 nonstructural gene. B19 DNA from patient and donor sera were sequenced. One of the 90 blood donors (Donor A) was B19 IgM positive and had a high level of B19 DNA. The patient was viremic 3 days after transfusion of platelets from this donor, and the sequence of B19 DNA from the patient exactly matched that of B19 DNA from the donor. A second blood donor (Donor B) had a low level of B19 DNA but was IgM negative. The patient showed no evidence of B19 infection after the transfusion of red cells from Donor B, and the sequence of this donor's B19 DNA was different from that in the patient. CONCLUSION: Blood Donor A with asymptomatic acute B19 infection was the source of B19 infection in the bone marrow transplant patient. Donor B with a low level of B19 DNA was not the source of infection.