Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members

BACKGROUND: Echographic biometry of the ocular axial length is a helpful criterion in diagnosis and follow-up of primary congenital glaucoma. However, quantitative assessment of ocular growth following successful primary glaucoma surgery in the first year of life is hardly to find in literature. PATIENTS AND METHODS: In 36 eyes from 21 patients (mean age 4.4 +/- 2.4 months) with primary congenital glaucoma Ascan biometry was performed under general anesthesia before and 7.2 +/- 4.2 months following successful primary glaucoma surgery and retrospectively summarized. RESULTS: Preoperative axial length was 21.7 +/- 2.5 mm, postoperative axial length was 22.4 +/- 1.6 mm. Ocular growth was significantly stronger in eyes with a preoperative axial length < 20 mm (p = 0.0012) and in children younger than 3 months at surgery (p = 0.0004). CONCLUSIONS: Preoperative axial length and age are basic factors for the interpretation of ocular growth following glaucoma surgery in primary congenital glaucoma. Temporary cessation of ocular growth is a frequent finding after successful pressure-reducing surgery in eyes with axial length > 22 mm and in children aged 3 months or older.     

A potent and selective inhibition of parainfluenza 1 (Sendai) virus by new 6-oxiranyl-, 6-methyloxiranyluracils, and 4(3H)-pyrimidinone derivatives

Several new 6-oxiranyl-, 6-methyloxiranyluracils, and pyrimidinone derivatives, synthesized by the lithiation-alkylation sequence of 1,3,6-trimethyluracil, 1,3-dimethyl-6-chloromethyluracil, and 2-alkoxy-6-methyl-4(3H)-pyrimidinones, showed a potent and selective antiviral activity against the parainfluenza 1(Sendai) virus replication.     

Pediatric central nervous system tumors

Numerous collagenous structures must be reconstituted following injury to the skin in order to return function to this tissue. The basement membrane zone, vascular basement membranes, and the dense connective tissue of the dermis are examples of structures that contain a number of different collagen types and that may need replacement following injury. In addition, a scar is deposited at the site of damage in order to substitute for elements lost in the trauma and for elements that cannot be successfully replaced. Clearly, cells resident within the different compartments of the skin are able to synthesize and deposit collagen to reform these multiple structures. However, accumulating experimental evidence suggests that in addition to these resident cells, blood-borne cells may be responsible for the deposition of a portion of the newly synthesized collagen. Studies from this laboratory point to the activated monocyte as a potential source of collagen in the wound environment. Given the dynamics of the process, the hypothesis is proposed that during normal wound healing, the activated monocyte is a source of collagen essential for the rapid formation of a provisional matrix conducive for the subsequent formation of granulation tissue. Collagen synthesis also occurs by expanded populations of resident cells, under the influence of inflammatory cell-derived mediators, which results in the major accumulation of collagen during normal wound repair. However, if a chronic inflammatory state is initiated, the activated monocytes may remain in sufficient numbers to deposit collagen leading to a pathological lesion.     

Tetrachromacy, oil droplets and bird plumage colours

Survival rates in childhood cancer now approach approximately 65%, depending on the specific cancer. Success has been achieved through the use of increasingly aggressive treatments (chemotherapy, radiotherapy, bone-marrow transplantation). These are now recognised to be associated with a range of physical late effects, including problems associated with growth and endocrine function, sensory function, fertility, liver, cardiac, and kidney damage. Recognition of these physical late effects raises the issue of related problems in psychological, educational, and behavioural functioning. There is considerable evidence to suggest that children who are younger on diagnosis are more at risk in terms of cognitive and behavioural late effects compared with those who are diagnosed later. Cancer remains a rare disease in children and consequently only those professionals attached to centres specialising in the care of children with cancer are likely to receive a significant number of referrals. It is important to establish a psychological support service as an integral part of long-term care in order to (a) establish more accurately the incidence of social and psychological late effects and (b) offer advice to the individual about the possible long-term effects of cancer treatment on future health, social, and employment prospects.     

Early preferential stimulation of gamma delta T cells by TNF-alpha

Although recent findings indicate that gamma delta T cells influence both early innate and Ag-specific adaptive host responses, it has remained unclear what triggers gamma delta T cell reactivity. Investigating very early T cell activation in mouse and human models of bacterial infection, we measured CD69 expression as an indicator of early cellular activation. Both murine alpha beta and gamma delta T cells responded polyclonally to systemic bacterial infections, and to LPS. However, gamma delta T cells responded more strongly to the bacteria and to LPS. In vitro LPS-stimulated human T cells showed a similar differential response pattern. We identified TNF-alpha as mediator of the early differential T cell activation, and of differential proliferative responses. The stronger response of gamma delta T cells to TNF-alpha was correlated with higher inducible expression levels of TNF-Rp75. Among unstimulated splenocytes, more gamma delta T cells than alpha beta T cells expressed CD44 at high levels. The data suggest that TNF-Rp75 determines the differential T cell reactivity, and that most gamma delta T cells in the normal spleen are present in a presensitized state. As TNF-alpha stimulates activated T cells, it may early preferentially connect gamma delta T cell functions with those of cells that produce this cytokine, including activated innate effector cells and Ag-stimulated T lymphocytes.     

Early gastric cancer and Helicobacter pylori: 34 years of experience at Charity Hospital in New Orleans

Good survival rates have been reported for resected early gastric adenocarcinoma (EGC) in patients found via screening procedures. However, the prevalence of Helicobacter pylori in EGC in unscreened populations is unclear. The major purpose of this investigation was to analyze the clinical experience and incidence of H. pylori in unscreened patients presenting with EGC at Charity Hospital over a 34-year period. From 1963 through 1997, the tumor registry at Charity Hospital compiled data on 2497 patients evaluated for gastric carcinoma. Of these patients, 26 (1%) had lesions that were confined to the mucosa or submucosa, i.e., T1N0M0 (American Joint Commission on Cancer classification). Pathology specimens and medical records were retrieved for confirmation of diagnosis and retrospective analysis for H. pylori. H. pylori was analyzed by Steiner staining and immunohistochemistry using a polyclonal antibody. EGC was detected in 12 men and 14 women with a mean age of 62 years. Upper gastrointestinal X-ray studies were performed on 19 of the 26 patients and failed to conclusively demonstrate a lesion in any case. Endoscopy was performed on 22 patients, and preoperative biopsies were positive in 95 per cent of these. Operative procedures included 2 local excisions and 22 subtotal and 2 total gastrectomies. No extended nodal dissections were performed. Microscopic evaluation revealed lesions limited to the mucosa in 63 per cent of cases and involving the submucosa in 37 per cent of the cases. Of the 14 patients evaluable of H. pylori, 79 per cent were positive for the bacterium. The status of 2 patients is unknown, and only 1 patient died of the original gastric cancer, for a disease-free survival of 96 per cent. The 5-year and 10-year overall survival rates were calculated to be 50 per cent and 21 per cent, respectively, when all causes of death were taken into consideration. Median follow-up of the survivors was 64 months. Resection of early gastric carcinoma in unscreened patients without extended lymphadenectomy yielded excellent results. H. pylori was present in 79 per cent of cases. These data suggest an association between H. pylori and EGC. Whether H. pylori infection is an etiologic factor in gastric cancer remains an area of active research.