Granulocytic sarcoma (chloroma): CT manifestations

Nests of granulocytic tumor cells in patients who have myelogenous leukemia are termed chloromas. Eight cases of chloroma seen on CT were reviewed. Lymph nodes, subcutaneous tissues, peritoneum, pleural space, pelvis, and portal hepatis were involved. Two patients exhibited chloroma as the sole manifestation of their disease during bone marrow remission. The extracranial appearance of chloroma on CT is that of small, nonenhancing, nodular densities that resemble lymphoma. Cranial involvement is characteristically in the orbit. The central nervous system appearance is variable, however, and high attenuation masses may occur that mimic lymphoma, hematoma, and metastatic neuroblastoma. The recognition of these lesions is important, since radiation, not chemotherapy, is often the preferred treatment for localized chloroma.     

Streptococcus pneumoniae-induced haemolytic uraemic syndrome

Haemolytic uraemic syndrome secondary to infection with neuraminidase producing Streptococcus pneumoniae is well recognised, but was previously considered to be rare. This case report describes the course of a 9-month-old male with pneumococcal pneumonia, T activation and haemolytic uraemic syndrome. The clinical features of three other cases treated in Southeast Queensland in the past 2 years and 12 previously reported cases are summarised. The widespread availability of rapid diagnostic testing for this entity should allow for increased recognition, enabling appropriate use of low plasma volume blood products with improved patient outcome.     

Community characteristics associated with elevated blood lead levels in children

OBJECTIVES: To identify community characteristics associated with children having elevated blood lead levels (> or = 10 micrograms/dL) and examine whether these characteristics can be used to identify children with elevated blood lead levels. PARTICIPANTS AND SETTING: A total of 20,296 children in Monroe County, New York (< 6 years old) who had blood lead testing in the first 12 months after statewide mandated reporting of blood lead tests began. DESIGN: A logistic regression analysis was conducted to examine the association of children's blood lead levels and community characteristics by using community characteristics of 653 census block groups. RESULTS: The following community level variables were associated with increased risk of elevated blood lead levels in children: residence within the city [odds ratio (OR), 2.0; 95% confidence interval (CI), 1.6, 2.7]; block groups with a higher proportion of individuals of Black race (OR, 1.6; CI, 1.4, 2.0); higher screening rate (OR, 1.9; CI, 1.6, 2.4); lower housing value (OR, 1.6; CI, 1.2, 2.0); housing built before 1950 (OR, 1.5; CI, 1.3, 1.8); higher population density (OR, 1.5; CI, 1.3, 1.8); higher rates of poverty (OR, 1.4; CI, 1.2, 1.8); lower percent of high school graduates (OR, 1.3; CI, 1.1, 1.6), and lower rates of owner-occupied housing (OR, 1.2; CI, 1.0, 1.4). Community characteristics were comparable with clinic-based individual risk assessment to identify children with elevated blood lead levels. CONCLUSIONS: These data demonstrate that community characteristics can be used to develop screening strategies to identify children who have elevated blood lead levels and shift our efforts toward identifying houses containing lead hazards before occupancy and before children are unduly exposed.     

DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS (DISH) OF THE SHOULDER: A CAUSE OF SHOULDER PAIN?

Shoulder pain is a common complaint and shoulder hyperostosisa frequent radiological condition. However, little is knownabout the association between the clinical and radiologicalfindings. To evaluate the clinical relevance of shoulder hyperostosiswe performed a controlled, blind study of 99 hospitalized probandswith and without thoracospinal hyperostosis on lateral chestX-rays. The study included grading of the shoulder hyperostosison the basis of three bilateral standard radiographs, assessingshoulder pain in a standardized way by an interviewer and recordingextraskeletal causes of shoulder pain. The prevalence of shoulderhyperostosis was doubled in probands with thoracospinal hyperostosiscompared to controls (X²= 5.90, F>0.025, n = 99). Shoulderhyperostosis, irrespective of thoracospinal hyperostosis, predisposedto shoulder pain (40% versus 18%, x² = 4.06, F>0.05, n =74). Shoulder hyperostosis in combination with thoracospinalhyperostosis (shoulder DISH) predisposed to shoulder pain toan even greater extent (46% versus 12%, x2 = 6.64, P>0.01,n = 47). We conclude that shoulder hyperostosis is a radiologicalfinding of potential clinical relevance KEY WORDS: Shoulder, Hyperostosis, Forestier's disease, Ankylosing vertebral hyperostosis, Radiographs, Pain     

The Elicitation of Viscero-motor Reflexes.

The elicitation of viscero-motor reflex especially from the small intestine has been studied on the cat under light barbituric anesthesia or after decapitation. On animals with good reflex irritability, the reflex can be elicited from the intestinal wall by mechanical, electrical, chemical and thermal stimuli without the involvement of the mesentery or of its connection with the intestine. The effect of a stimulation of the intestinal wall is stronger the nearer the stimulus is placed to the mesenterial connection. This is explained by the fact that the densityof the nerve fibres must be greater here. A cutano-motor reflex is much stronger than a viscero-motor reflex elicited by the same stimulus on an equal area of skin resp. intestinal wall. No basis has appeared for the assumption that the intestinal wall should be supplied with pain nerve end-organs, especially adapted for stretching or pulling, or which in any way should differ from the pain nerve end-organs in the somatic innervated tissues. The principle difference between the visceral and somatic innervated organs probably is a quantitative, the density of riociceptive nerve fibres with end-organs.     

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II procollagen (COL2A1). Families with Sticklers syndrome type 1 have a characteristic congenital vitreous anomaly and are linked without recombination to markers at the COL2A1 locus. In contrast families with the type 2 variety have a different vitreo- retinal phenotype and are not linked to the COL2A1 gene. Type XI collagen is a quantitatively minor fibrillar collagen related to type V collagen and associated with the more abundant type II collagen fibrils. A mutation in COL11A2, the gene for alpha 2 (XI) procollagen, has recently been found in a family described as having Stickler syndrome, although there was no ocular involvement. Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise the mutation as a Glycine to Valine substitution at position 97 of the triple helical domain caused by a single base G-- >T mutation. These results are the first to provide confirmation that type XI collagen is an important structural component of human vitreous. They also support previous work suggesting that mutations in the genes encoding collagen XI can give rise to some manifestations of Stickler syndrome, but of these, only mutations in COL11A1 will give the full syndrome including the vitreo-retinal features.      

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis

We have investigated a family in which three siblings with the autosomal dominant disorder tuberous sclerosis had unaffected parents. The family were typed for polymorphic markers spanning the two genes known to cause tuberous sclerosis located at 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding a mutation in TSC1 as the cause of the disease. For the TSC2 markers all the affected children had the same maternal and paternal haplotypes, as did three of their unaffected siblings. Mutation screening by RT-PCR and direct sequencing of the TSC2 gene identified a 4 bp insertion TACT following nucleotide 2077 in exon 18 which was present in the three affected children but not in five unaffected siblings or the parents. This mutation would cause a frameshift and premature termination at codon 703. Absence of the mutation in lymphocyte DNA from the parents was consistent with germline mosaicism and this was confirmed by our finding of identical chromosome 16 haplotypes in affected and unaffected siblings, providing unequivocal evidence of two different cell lines in the gametes. Molecular analysis of the TSC2 alleles present in the affected subjects showed that the mutation had been inherited from the mother. This is the first case of germline mosaicism in tuberous sclerosis proven by molecular genetic analysis and also the first example of female germline mosaicism for a characterized autosomal dominant gene mutation apparently not associated with somatic mosaicism.