Turner's syndrome and benign intracranial hypertension with or without growth hormone treatment.
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Biomedical subjects
Publications and source records attributed to J McKiernan.
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A healthy infant was born at term by elective cesarean section to a 32-year-old para 4, gravida 4, mother. Within 24 hours, the infant was noted to have fairly extensive bruising on the back and shoulders. A full blood count evaluation was remarkable for severe thrombocytopenia (platelet count of 29 x 10(9)/L). Other hematologic parameters were normal. Human leukocyte antigen (HLA) class-1 antibodies but not platelet-specific antibodies were detectable in the maternal serum using a commercial antigen-capture ELISA (GTI-PakPlus kit). Anti-HPA-3a antibodies, while weakly reactive in the monoclonal antibody immobilization of platelet antigens (MAIPA) assay in the immediate postpartum serum, were readily detectable using this assay in a sample taken 4 weeks later. Genotyping for human platelet antigens (HPA) 1-5 by the polymerase chain reaction technique with sequence-specific primers (PCR-SSP) revealed the infant's platelet genotype to be HPA-1a/1a, 3a/3b, while that of the mother was HPA-1a/1a, 3b/ 3b, consistent with a diagnosis of anti-HPA-3a neonatal alloimmune thrombocytopenia (NAIT). This case illustrates the increased sensitivity of the MAIPA technique for the detection of platelet-specific antibodies. We believe this to be the first serologically confirmed case of NAIT due to anti-HPA-3a to be reported in the republic of Ireland.
OBJECTIVES: To report a survey of blood-based RNAs obtained from common groups of control and renal cancer patients for expression of both MN/CA9 and prostate-specific membrane antigen (PSMA) messenger RNAs. METHODS: Reverse transcription polymerase chain reaction (RT-PCR) assays for MN/CA9 and PSMA were performed on RNAs extracted from 81 blood samples (59 patients with renal cancer, 7 with benign tumors, and 15 control volunteers). The results of these assays were statistically analyzed to determine whether a positive result (individually or combined) correlates with any tumor characteristics. RESULTS: Neither MN/CA9 nor PSMA amplification products were detected in the RNAs from peripheral blood samples of the 15 control volunteers and from the 7 patients with benign renal tumor (sensitivity 100%). MN/CA9 alone was detected in 11 (19%) of 59 samples and PSMA alone in 12 (20%) of 59 samples from patients with renal cancer. PSMA positivity was significantly correlated with vascular invasion of the primary tumor. Expression of one or both of these molecular tumor markers was detected in 21 (36%) of 59 renal cancer patients. When combined, the results of the MN/CA9 and PSMA RT-PCR tests were found to be highly associated with vascular invasion in nephrectomy specimens (sensitivity 67%, specificity 77%, odds ratio = 6.89, P = 0.002). CONCLUSIONS: Combination of RT-PCR assays for MN/CA9 and PSMA provides a sensitive blood test for molecular detection of clear cell carcinoma of the kidney and its potential for vascular invasion. Further testing of this assay will be required to evaluate its efficacy in the diagnosis, screening, and follow-up of patients with kidney cancer.
Renal cancer includes several distinct entities with a range of biologic and clinical behaviors from relatively indolent to extremely aggressive tumors. Although conventional prognostic factors such as stage and grade are quite useful, other clinical, laboratory, and pathologic findings are now believed to have additional predictive values. This article reviews the literature on the potential utility of biomarkers in renal cell carcinoma. To date, only a few biomarkers, such as Ki-67, appeared to be potentially useful for monitoring renal cancer patients. New biomarkers including MN/CA9 and circulating cell detection require further and extensive studies to assess their potential clinical utility.
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In a prospective study, we have examined the effect of nutritional status, using anthropometric measurements, on outcome in 102 consecutive adult patients undergoing elective orthotopic liver transplantation. Mid-arm muscle circumference was calculated from these two measurements. Patient outcome variables were time spent in the intensive therapy unit, total time in hospital, infective complications and mortality within 6 months. Graft outcome variables were early graft function, peak aspartate transaminase, alkaline phosphatase, bilirubin and prothrombin time. Group A patients were below and group B patients above the 25th percentile for mid-arm circumference and triceps skin fold thickness. Eighty-four patients (79%) were at or below the 25th percentile of anthropometric measurements and 30 patients (28%) were below the 5th percentile. The median mid-arm muscle circumference in group A was 22.3 (range 16.4-28.9) cm and 25.7 (range 21.7-31.8) cm in group B. The medial albumin level was similar in the two groups. There were significantly more bacterial infections in group A (27/84, 32%) than in group B (2/22, 8%; chi(2) = 5.4, P = 0.02). There was a difference in mortality up to 6 months post-operatively that failed to reach statistical significance (Wilcoxon-Gehan statistic -199, P = 0.09). There were 11/84 (13%) deaths in group A and no deaths in group B (chi(2) = 2.8, P = 0.09). Post transplantation, there were significant differences (Kruskal-Wallis Anova) between groups A and B for peak alkaline phosphatase (683 vs 334 IU/I, P = 0.05) and peak prothrombin time [16 (range 13-25) vs 19.5 (range 12-65), P = 0.03]. These data suggest that a significant proportion of patients undergoing liver transplantation are nutritionally compromised and that this has effects on patient infection, susceptibility, graft function and mortality, which may possibly be improved by nutritional intervention.
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BACKGROUND: Microepidemics of tuberculosis continue to occur in countries with a low incidence of tuberculosis. METHODS AND RESULTS: A microepidemic of tuberculosis in a secondary school with 604 girls in Cork city, Ireland, in 1986 with follow up to 1990 is described. Neonatal BCG vaccination was discontinued in the city in December 1972 so most of the 342 pupils who had received BCG were aged 14 years or more. Six active cases and 75 tuberculin positive cases were found. Four of the six girls with active disease had had neonatal BCG. The 75 pupils with a positive (grade 3 or 4) Heaf test response were given chemoprophylaxis with rifampicin and isoniazid for six months; none had developed active tuberculosis four years later. The brother of the girl who was the probable index case, however, developed active tuberculosis in 1988 despite similar chemoprophylaxis. CONCLUSION: The episode highlights the fact that children who have had neonatal BCG can develop active tuberculosis as teenagers.
The association of coeliac disease and partial lipodystrophy is described. The patient also had deficiencies of serum IgA and C3 complement (the latter associated with partial lipodystrophy). In addition, there was subclinical dermatitis herpetiformis confirmed by skin biopsy. The facial wasting of fully developed partial lipodystrophy may be misinterpreted as a sign of malabsorption but the facial, upper limb, and truncal lipodystrophy contrasts with normal pelvic and lower limb appearances.
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Histological examination of the breasts of 26 infants and young children who died suddenly between the ages of 3 weeks and 2 years was performed. The glands were composed of well formed lobules surrounded by dense interlobular stroma, while within the lobules there was looser connective tissue. The lobules contained ducts, many of which were dilated and contained secretions. Foci of extramedullary haematopoiesis were found, and in the older infants, fat was prominent within the connective tissue of the breast. Myoepithelial cells were regularly present. No sex differences in breast development at this time were noted. Newborn breast development did not regress rapidly after birth and secretory activity continued for many months in both sexes. This study shows that the human mammary gland remains active for many months after birth and may continue to grow and secrete. The findings are not consistent with the current view that breast development in infancy results from stimulation from 'pregnancy hormones.' It is more likely that the infant's own gonadal secretions are responsible.
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