Schwannoma with focal smooth muscle differentiation: a potential pitfall in the interpretation of core biopsies.
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Biomedical subjects
Publications and source records attributed to C E Anderson.
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BACKGROUND: Enteral nutrition (EN) is widely used and is effective in the treatment of children with Crohn's disease given as an exclusive feed for 6-8 weeks. Current dietetic practice during EN is to recommend an energy intake based on estimated average requirement (EAR) for energy for age. AIMS: To examine factors affecting energy intake and weight gain during EN in relation to disease site and nutritional status. METHODS: A retrospective cohort study examining energy intake and weight gain during the exclusive EN feeding period in 40 patients newly diagnosed with Crohn's in relation to EAR, nutritional status, disease site. RESULTS: All patients improved clinically and gained weight during EN with improvement in the CRP as a marker of the systemic inflammatory response. Energy intake was higher than EAR in 82% (33/40 patients), with the median 117.5% of EAR. Weight gain correlated with body mass index standard deviation score (P = 0.001) at start of treatment, but not energy intake or CRP. CONCLUSION: Estimated average requirement underestimates energy intakes in most children with newly diagnosed Crohn's disease. During EN, an energy intake in the range of 100-149% (median 117.5%) EAR for energy for age may be required. Energy balance studies in children with active disease are required.
At present, a three-tier system is used to grade cervical dyskaryosis in the UK, although the two-tier Bethesda system is used in the United States, and the British Society for Clinical Cytology has recommended that a two-tier system be implemented here. In this study, we have retrospectively re-graded 117 conventional cervical smears using both systems to determine the intra- and interobserver variation and compare the cytology grading in both systems with the final histology. The intra and interobserver agreement was moderate using both grading systems, but the agreement between cytology grade and final histology was poor in both the two- and three-tier systems, and slightly worse using two-tier grading. However, when each of the three histological categories is considered separately the two-tier system appears to work better. Therefore, changing the way in which cervical dyskaryosis is graded in the UK may result in poorer agreement between the cervical smear result and the final histological diagnosis if introduced without proper training, monitoring and assessment.
Reactive astrocytosis is a well-documented feature of HIV encephalitis (HIVE), but it is unclear whether restricted infection of astrocytes contributes to this phenomenon. In addition, the part played by reactive and/or infected astrocytes in AIDS-related dementia is not fully understood. In this study of patients at different stages of the human immunodeficiency virus (HIV) infection, who had been treated at most with one antiretroviral drug, reactive astrocytes were identified by immunopositivity for glial fibrillary acidic protein (GFAP) and infected astrocytes by positivity for HIV Nef protein. Results were compared for drug-using AIDS patients with (n=9) and without (n=7) HIVE, for presymptomatic HIV-positive drug users (n=12) and for control HIV-negative subjects (n=20), including a group who used drugs (n=10). GFAP-reactive astrocytes in both grey and white matter were significantly more numerous in HIVE subjects than in each of the other groups but did not correlate with viral load. Nef-positive astrocytes were confined to HIVE cases and to white matter, but were numerous in only one subject who was treatment-naive. Nef-positive microglia were identified in all HIVE cases and in occasional AIDS and presymptomatic subjects who did not have HIVE. The results suggest that astrocytes may form an additional viral reservoir in late HIV infection and may contribute to HIVE. However, the number of GFAP-positive astrocytes was neither increased in pre-AIDS nor in drug abuse, in contrast with microglia which we have shown previously to be up-regulated in both states.
Thyroid pathology is a specialist area but is often encountered by the general pathologist in a variety of forms including cytology, frozen sections, and resection specimens. In the thyroid gland, as for other endocrine organs, many aspects of diagnosis are unique to this area of histopathology; thus, the aims of this paper are to set out best practice guidelines which, although not entirely comprehensive, will be of practical use.
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OBJECTIVES: To examine the association of prescribed zidovudine (ZDV) during pregnancy with congenital anomalies in a population-based cohort. METHODS: Medicaid claims were used to assess prescribed ZDV and children's major congenital anomalies in 1932 liveborn deliveries from 1993 to 1996 to HIV-infected women in the state of New York (NYS), U.S.A. Prevalence of anomalies in the cohort was compared with that of a general NYS population. Within the cohort, adjusted odds of any anomaly were compared by receipt of ZDV and by trimester of first prescription. RESULTS: The adjusted prevalence of any anomaly in the study cohort was 2.76 times greater than in the general population (95% confidence interval [CI], 2.36-3. 17). Children of study women who were prescribed ZDV had increased adjusted odds of any anomaly (adjusted odds ratio [OR], 1.55; 95% CI, 1.01-2.29). Adjusted ORs (with CIs) by trimester of first prescription were 1.20 (0.58-2.51), 1.47 (0.85-2.55), and 1.84 (1. 04-3.25) for the first, second, and third trimesters, respectively. CONCLUSION: Children of HIV-infected women in this cohort had a greater prevalence of major anomalies than did the general NYS population. An increased risk of major anomalies was not evident for first trimester exposure when the association would have been most biologically plausible.
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Managed mental health care has been examined from different perspectives in scholarly literature. It has been examined from the provider's perspective through scholarly writing. Executives of managed care companies have also provided their input in this arena. One group of professionals involved in managed care has not contributed to the literature. That is, the case managers employed by the managed mental health care companies themselves. Issues in managed mental health care are discussed from the perspective of the case managers employed by the managed care companies. This group can view managed mental health care from different standpoints. Thus, case managers can provide unique insights into managed mental health care.
We present a patient with features suggestive of Seckel syndrome who was found to be mosaic for ring 4 chromosome. Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition. In addition, our patient had oligomeganephronia, a rare and usually sporadic renal malformation, previously reported in two other patients with abnormalities of chromosome 4. Besides pointing out the overlap between the Seckel phenotype and Wolf-Hirschhorn syndrome, our patient illustrates the need to consider cytogenetic studies in patients with the Seckel phenotype, so that accurate diagnoses can be given to families. Also, the case suggests that there may be a locus for oligomeganephronia distal to the Wolf-Hirschhorn critical region on 4p.
Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose. The initial patients described had varying degrees of mental retardation and there is little information about long-term developmental outcome. We present a boy with Dubowitz syndrome who does not have developmental delays, providing additional evidence that the phenotype includes normal neurodevelopmental status.
Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region in RTS patients led us to screen a large cohort of affected subjects using the RT1 probe. Among 64 patients with clinical evidence of RTS, seven (11%) had a deletion. Another patient had a translocation of the region without evidence of a deletion. The features of coloboma, growth retardation, naevus flammeus, and hypotonia have a positive predictive value for the presence of an RT1 deletion. Because of the relatively low frequency of deletions in RTS, the RT1 probe is useful in diagnostic confirmation, but has limited use as a screening tool.
BACKGROUND AND OBJECTIVES: Because a shortage of physicians for the rural United States persists, it is important to better understand why individuals from rural areas consider careers in medicine. This study assessed and compared rural and urban high school students' interest in careers in medicine. METHODS: Students attending presentations given by medical students about health care careers completed a questionnaire given at high schools between 1991-1994. This questionnaire assessed interest in health and medical careers and self-perceived capability to pursue a medical career. RESULTS: A total of 924 students attended the presentations and returned questionnaires. Approximately 33% of students expressed an interest in some type of health career. Related to choosing such a career were being female, coming from an urban area, and having had a previous talk about a health care career. Among the 13% of students considering becoming a physician, only being from an urban area or having had a previous talk were related to this choice. Rural students who had received previous talks were more likely to consider health care and medicine careers. CONCLUSIONS: Socializing rural high school students to health care and physician careers via structured talks and personal encouragement may increase the number of rural students interested in such careers and help alleviate the shortage of rural health care providers.
We report the use of fluorescent in situ hybridisation (FISH) to clarify a complex chromosomal rearrangement (CCR) carried by a woman presenting with recurrent miscarriages. CCRs are rare cytogenetic rearrangements involving three or more chromosomes, which can be difficult to interpret using routine cytogenetic studies with GTG banding. FISH was used to establish a correct interpretation of the maternal karyotype before amniocentesis in a present pregnancy.
Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease.
Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early onset of multiple basal cell carcinomas. Previous reports suggested an X-linked mode of inheritance. We therefore performed linkage analysis with microsatellite markers of the X chromosome in three families. We obtained evidence for X-linkage and regional assignment to Xq24-q27 of this syndrome (maximal lod score = 5.26 with a recombination fraction of 0% at the DXS1192 locus). This represents a first step towards the identification of a gene involved in hair follicle development and skin tumor formation.
UNLABELLED: Indium-111-polyclonal IgG is a new imaging agent of infection and inflammation that has been developed as a possible replacement for radiolabeled leukocytes. We undertook a study to determine the safety, biodistribution and dosimetry of the agent in normal subjects. METHODS: Twelve normal male volunteers with an average age of 34 yr (range 21-55 yr) were studied. Each was injected with 1.22-1.47 mCi 111In-labeled polyclonal IgG; digital whole-body images, in addition to blood, urine and fecal samples, were obtained immediately after injection and at 6, 24, 48, 72, 96 and 120 hr. Whole-body counts, as well as individual organ data obtained by outlining regions of interest, were measured. Blood, urine and fecal counting were done in a well counter and compared to known standards; dosimetry calculations were performed with the MIRD technique. RESULTS: The mean whole-blood activity had a two-phase disappearance curve: the T1/2I was 11.4 hr (61.1%) and the T1/2II was 112.5 hr (38%). Twelve percent of the dose was excreted in the urine and 1.14% in the feces. Skeletal muscle had the highest percentage of uptake, followed by the bone marrow, liver and lungs; the spleen showed less than 1% uptake. Activity in the lungs varied with time, falling by 37% after 18 hr and by 68% after 72 hr. Dosimetry calculations indicated that the highest absorbed dose was to the liver (1.42 rad/mCi) followed by the testes (1.23 rad/mCi) and red marrow (0.976 rad/mCi). The total-body dose was 0.467 rad/mCi, with an effective dose equivalent of 790.84 mrem. CONCLUSION: The biodistribution of 111In IgG is similar to that of 99mTc-HMPAO-labeled leukocytes. Activity in the liver, kidneys and GI tract may make evaluation of infection in these regions difficult. The dosimetry data indicate that adequate doses can be administered for clinical imaging without exposing the patient to excessive radiation.
OBJECTIVES: Little information is available with regard to prognosis of euploid fetuses with first-trimester nuchal hygromas. To evaluate this population, the natural history, pregnancy outcome, and pediatric implication of this lesion were determined. STUDY DESIGN: Fetuses with cystic hygromas detected in the first trimester were retrospectively identified, and karyotype results were documented. Pregnancy outcome of those fetuses having a euploid karyotype was obtained, and physical examination of the live-born neonates and infants was performed by a clinical geneticist. RESULTS: A normal karyotype was identified in 22 (51%) of these pregnancies. Eighty-two percent of the euploid pregnancies were continued, with 89% of the fetuses surviving to the third trimester. Dysmorphic sequelae were documented in three children, including Noonan syndrome in one. CONCLUSION: In the presence of a normal karyotype fetuses with a first-trimester nuchal hygroma have an excellent prognosis. Normal outcome was seen in 80% of pregnancies carried to the third trimester.