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11.
A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16-17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination. 相似文献
12.
We documented the presence of lymphocytic prostatitis in all prostate specimens received over a 4-month period. Lymphocytic prostatitis was present in 44% of biopsy specimens (n = 77), 95% of transurethral prostatic resection specimens (n = 20), and 100% of total prostatectomy specimens (n = 9). The patchiness of the prostatitis within the prostate in part explains the lower prevalence in the biopsy specimens, which sample a much smaller portion of the gland compared with the other procedures. Lymphocytic prostatitis was seen in prostates both with and without adenocarcinoma. However, in specimens containing carcinoma, the lymphocytic aggregates rarely involved malignant glands. Instead, the aggregates were either stromal or involved nonmalignant glands either adjacent to or away from the tumor, including glands with hyperplasia, atrophy, and prostatic intraepithelial neoplasia. Even when malignant and nonmalignant glands were in close proximity, there was a sharp demarcation with respect to lymphocytic inflammation. Immunohistochemical staining with B-cell and T-cell markers disclosed that the vast majority are T lymphocytes. The localization of lymphoid aggregates to nonmalignant (including prostatic intraepithelial neoplasia) glands but not frankly neoplastic glands, suggests a selective escape of immune detection by neoplastic glands. 相似文献
13.
Alan L Whone Sarah Von Spiczak Mark Edwards Enza-Maria Valente Alexander Hammers Kailash P Bhatia David J Brooks 《Movement disorders》2004,19(12):1498-1503
The opioid transmitters enkephalin and dynorphin are known to regulate pallidal output and consequently cortical excitability. Indeed, abnormal basal ganglia opioid transmission has been reported in several involuntary movement disorders, including levodopa-induced dyskinesias in Parkinson's disease (PD), tardive dyskinesias/dystonia, Huntington's disease, and Tourette's syndrome. Moreover, a previous 11C-diprenorphine PET study investigating levodopa-induced dyskinesias found reduced opioid receptor availability in PD with but not without dyskinesias. We wished to investigate if a similar alteration in basal ganglia opioid binding was present in DYT1 primary torsion dystonia (PTD). Regional cerebral 11C-diprenorphine binding was investigated in 7 manifesting carriers of the DYT1 gene and 15 age-matched normal controls using a region-of-interest (ROI) approach and statistical parametric mapping (SPM). No difference in regional mean 11C-diprenorphine binding was found between DYT1-PTD and controls, and no correlation between the severity of dystonia and opioid binding was seen. We conclude that aberrant opioid transmission is unlikely to be present in DYT1-PTD and altered opioid transmission is not a common mechanism underlying all disorders of involuntary movement. 相似文献
14.
Anthony C Pereira Mark J Edwards Philip C Buttery Christopher H Hawkes Niall P Quinn Gavin Giovannoni Marios Hadjivassiliou Kailash P Bhatia 《Movement disorders》2004,19(4):478-482
Coeliac disease has been associated with a variety of neurological conditions, most frequently cerebellar ataxia and peripheral neuropathy. To date, chorea has not been associated with coeliac disease. We present the case histories of 4 individuals with coeliac disease and chorea (4 women, average age of onset of chorea 61 years). Unexpectedly, most of these patients showed a notable improvement in their motor symptoms after the introduction of a gluten-free diet. 相似文献
15.
Narayan Prasad Amit Gupta Raj K Sharma Archna Sinha Ramesh Kumar 《Peritoneal dialysis international》2007,27(1):42-47
OBJECTIVE: To determine the impact of nutritional status on peritonitis in patients on continuous ambulatory peritoneal dialysis (CAPD) in a developing country. METHODS: 56 patients with end-stage renal disease on CAPD were randomly selected for this study. These patients were assessed for nutritional status and peritonitis episodes. Nutritional parameters were assessed by anthropometry, diet, body mass index (BMI), Nutritional Risk Index (NRI), serum albumin level, and Subjective Global Assessment (SGA). Based on SGA, patients were categorized into either group 1 (malnutrition, n = 31) or group 2 (normal nutritional status, n = 25). Peritonitis was considered the primary outcome and was compared between the two groups. RESULTS: Demographic profiles, Kt/V, creatinine clearance, and mean follow-up of the two groups were similar. Number of peritonitis episodes was significantly higher in patients with malnutrition (25/31) compared to patients with normal nutritional status (4/25) (p = 0.001). Mean peritonitis rate per patient per year was also significantly higher in patients with malnutrition (0.99 +/- 1.07) compared to patients with normal nutritional status (0.18 +/- 0.42) (p = 0.007). On univariate analysis, malnutrition based on SGA (p = 0.009), NRI (p = 0.02), serum albumin level (p = 0.005), and calorie intake (p = 0.006) was a significant predictor of peritonitis. On multivariate Cox regression analysis, only SGA (p = 0.001, odds ratio 0.08, 95% confidence interval 0.02-0.36) was found to be a significant predictor of peritonitis. On general linear model, the observed power of prediction of peritonitis was 0.96 based on SGA. On Kaplan-Meier survival analysis, peritonitis-free survival in patients with normal nutrition (42 months) was significantly higher compared to patients with malnutrition (21 months) based on SGA (log rank p = 0.003). CONCLUSION: We conclude that peritonitis rate is high in patients with malnutrition and that malnutrition indices, especially SGA, can predict the peritonitis rate in CAPD patients. 相似文献
16.
We performed transurethral resections of the prostate in 100 patients under local anesthesia supplemented when appropriate by intravenous medication. In the first part of the study (40 patients) local anesthesia was infiltrated into the prostate transurethrally only, while in the second part (60 patients) infiltration was performed transurethrally and perineally. Prostate sizes ranged from 5 to 50 gm., and pain control was excellent in the majority of the patients, especially when perineal infiltration was added to the procedure. Of the patients 98 per cent said they would do it again, no patient required conversion to general anesthesia and there were no significant complications relating to the anesthesia. Local anesthesia with intravenous supplementation can be performed successfully in the majority of the patients with small to moderately sized prostate glands. 相似文献
17.
The Indian population can be divided broadly into Dravidians and the Aryans. In this report, we have attempted to analyze the HLA genetic profile of 400 native North Indian Hindus of Aryan descent. The gene frequencies of a majority of class I and II antigens show similarity to the Caucasoid population. An interesting finding was a complete lack of antigen B14 while B16 and B41 occurred with the least frequency. Haplotype A10, B8 with significant positive linkage disequilibrium as well as showing the highest incidence is characteristic of North Indians. 相似文献
18.
Neuropathogenesis of Chimeric Simian/Human Immunodeficiency Virus infection In Pig-tailed and Rhesus Macaques 总被引:2,自引:0,他引:2
Ravi Raghavan Edward B Stephens Sanjay V Joag Istvan Adany David M Pinson Zhuang Li Fenglan Jia Manisha Sahni Chunyang Wang Kevin Leung Larry Foresman Opendra Narayan 《Brain pathology (Zurich, Switzerland)》1997,7(3):851-861
We recently reported that a chimeric simian/human immunodeficiency virus (SHIVKU-1 ) developed in our laboratory caused progressive depletion of CD4+ T lymphocytes and AIDS within 6 months of inoculation into pig-tailed macaques (M.nemestrina). None of the pig-tailed macaques showed productive SHIV infection in the central nervous system (CNS). In this report, we show that by further passage of the pathogenic virus in rhesus macaques [M. mulatta], we have derived a new strain of SHIV (SHIVKU-2 ) that has caused AIDS and productive CNS infection in 3 of 5 rhesus macaques infected with the virus. Productive replication of SHIV in the CNS was clearly shown by high infectivity titers and p27 protein levels in brain homogenates, and in 2 of the 3 rhesus macaques this was associated with disseminated, nodular, demyelinating lesions, including focal multinucleated giant cell reaction, largely confined to the white matter. These findings were reminiscent of HIV-1 associated neurological disease, and our immunohistochemical and in situ hybridization data indicated that the neuropathological lesions were associated with the presence of SHIV-specific viral antigens and nucleic acid respectively. However, the concomitant reactivation of opportunistic infections in these macaques suggested that such pathogens may have influenced the replication of SHIV in the CNS, or modified the neuropathological sequelae of SHIV infection in the rhesus species, but not in pig-tailed macaques. Our findings in the two species of macaques highlight the complexities of lentiviral neuropathogenesis, the precise mechanisms of which are still elusive. 相似文献
19.
Hubert Walter Hideo Matsumoto Heidi Danker-Hopfe Kailash C. Malhotra Biswa N. Mukherjee 《Journal of human genetics》1997,42(1):193-203
Summary Serum samples from eight endogamous Indian tribal populations of Madhya Pradesh (Dhurwa, Halba, Bhatra, Muria, Maria) and
Orissa (Deshia Khond, Binjhal, Kisan) with a total of n=731 unrelated individuals were typed for G1M (1,2,3,17), G3M (5,10,11,13,14,15,16,21,26),
and KM (1). In seven of these populations five different GM haplotypes were found:GM*1,17;21,26; GM*1,17;10,11,13,15,16; GM*1,2,17;21,26; GM*1,3;5,10,11,13,14,26; andGM*3;5,10,11,13,14,26. In the Kisan sample the haplotypeGM*1,2,17; 21,26 is absent. The intergroup variability in the distribution of these haplotypes is considerable and statistically highly significant.
The reasons for that can be attributed to the ethnohistory and to the genetic isolation of these eight endogamous tribal populations.
The GM haplotype distribution pattern of all these groups is quite different from that of the non-tribal populations of India,
whereas it is in good agreement with that of the so far tested other tribal populations from India. This can be explained
by different origin and history of the Indian tribal and non-tribal populations. In the KM system, too, remarkable variability
is seen in the distribution of phenotype and allele frequencies among the eight tribal populations under study. 相似文献
20.
Julio C Delgado Ahasan Hameed Juan J Yunis Kailash Bhol Adriana I Rojas Simeen B Rehman Ashfaq A Khan Manzoor Ahmad Chester A Alper A.Razzzaque Ahmed Edmond J Yunis 《Human immunology》1997,57(2):110-119
ABSTRACT: Pemphigus vulgaris (PV) is an autoimmune disease of the skin and mucous membranes characterized by an autoantibody response against an epidermal cadherin. We performed high resolution HLA class II typing in 19 patients with PV from Rawalpindi, Pakistan and 19 non-Jewish European PV patients from Boston by sequence-specific oligonucleotide probe hybridization. The results were compared with two separate ethnically matched control populations. We found that PV patients from Pakistan had significantly increased frequencies of DRB1*1404 ( p = 0.01), DQA1*0101 ( p = 0.02), and DQB1*0503 ( p = 0.01). Among the patients of non-Jewish European ancestry, DRB1*1401 ( p < 10−6), DQA1*0101 ( p < 10−5) and DQB1*0503 ( p < 10−6), were increased in PV patients. Formal linkage analysis between the major histocompatibility complex and the PV antibody was performed in 67 relatives of the 19 Pakistani patients. The results showed strong evidence for linkage of HLA-DRB1*1404, DQA1*0101, DQB1*0503, with the presence of PV antibody in relatives’ families with a significant logarithm of the odds score of 6.06. Based on the three dimensional structure of class II molecules, we propose that HLA-DQA1*0101 and DQB1*0503, encode a negatively charged P9 peptide binding pocket of the DQ molecule and are significantly associated with susceptibility to PV in non-Jewish populations. 相似文献