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1.
Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease. 相似文献
2.
INTRODUCTION: The present study aimed at investigating phalloid mushroom poisoning and the toxicological aid services in Plovdiv region as this pathology shows in this country high mortality rate (40-100%) and increasing incidence; it is difficult to diagnose and is far from featuring adequately in the literature in our country. MATERIAL AND METHODS: A caseload of 270 patients with mushroom poisoning from Plovdiv region, Bulgaria, admitted for treatment to the Clinic of Toxicology, Higher Medical Institute, Plovdiv, for the period 1991-1998 was studied. Of these 270 patients 25 (9.26%) had an acute phalloid poisoning. The following indicators were registered: gender, age, reported type of consumed mushrooms, time of appearance of the first complaints after the mushroom consumption, time of medical aid, disease outcome. The diagnosis and the applied treatment was based on our own diagnostic-therapeutic protocol for phalloid intoxication. RESULTS: All phalloid poisoning cases were accidental by character. The most frequently reported type of ingested mushroom was unidentified wild edible mushrooms. Of all the patients males were 56%, females--44% with mean age of 47.71 years (SD = 17.53). From 25 phalloid poisoning cases 15 survived (60%), 10 died (40%). The summer-fall seasonal pattern of phalloid poisoning occurrence was apparent. The mean duration of the latency period was 12 hours (SD--6.66). In 4 (16%) patients the disease exhibited an unusually early onset--up to 2 hours after the mushroom ingestion. The mean time period from the mushroom ingestion to the presentation in a medical institution for first medical aid was 32 hours (SD--21.69), for men--27.59 hours, for women--43.75 hours. Almost one third (32%) of the diseased presented for medical help more than 36 hours after the poisoning. CONCLUSIONS: The acute mushroom poisoning cases in adults comprise 7.01% of the total acute poisoning caseload. The phalloid poisoning accounts for 9.26% of the total number of patients with mushroom poisoning admitted for treatment. The application of contemporary diagnostic-therapeutic protocol lowers the hospital lethality rate from phalloid poisoning to 40%. There were no statistically significant differences in the compared parameters between the subgroups of patients with favorable and lethal outcome and between the subgroups of men and women--most probably due to the small sample. In order to lower the incidence and mortality rate from phalloid mushroom poisoning the authors recommend preventive health education on the problem, targeting the population at risk and the introduction of contemporary diagnostic and treatment methods--determining the amatoxins, intravenous application of Silibinin and liver transplantation. 相似文献
3.
SB Grover N Midha M Gupta U Sharma VH Talib 《Journal of Medical Imaging and Radiation Oncology》2005,49(2):175-178
The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal. 相似文献
4.
Stefan Sivkov Valentin Akabaliev Mladen Mantarkov Ferihan Ahmed-Popova Katerina Akabalieva 《Psychiatry research》2013
Minor physical anomalies (MPAs) are slight structural aberrations indicative of abnormal neurodevelopment. Most studies of MPAs in bipolar disorder have yielded limited results. We attempted to assess the potential value of MPAs as a classifying test in the status bipolar I patients vs. normal controls. Sixty one bipolar I patients and 103 controls were evaluated for MPAs using a slightly modified version of the Waldrop scale. The specificity, sensitivity and predictive value of different total MPA (MPA-T) scores were determined. The cut-off MPA-T scores that optimally discriminated patients from controls (exhibiting the most balanced sets of sensitivity, specificity, positive and negative predictive values) were MPA-T≥4 and MPA-T≥5. These values set a “border zone” in which bipolar I patients began to prevail significantly over controls. The latter presented most frequently with MPA-T ≤3 and rarely with MPA-T ≥6. Bipolar I patients prevailed among outliers (subjects with significantly higher MPA-T scores). Our data establish MPA-T score as a reliable index in distinguishing between bipolar I patients and normal controls and are consistent with the hypothesis of abnormal neurodevelopment in bipolar disorder. 相似文献
5.
INTRODUCTION: Although scarce, the data about acute poisonings with psycho-active substances during the period of socioeconomic crisis in Bulgaria indicate the appearance and increase of the use of inhalants, prescribed and over-the-counter medications and the increase of acute poisoning rate with heroin. AIM: To ascertain some characteristics of acute poisonings with psycho-active substances in Plovdiv region from 01.01.1990 to 31.12.2000. MATERIAL AND METHODS: The whole caseload of 571 acute poisonings with psycho-active substances in Plovdiv region (8.8% of the population of the country) between 1990 and 2000, treated in the only Clinic of Toxicology in the region is studied retrospectively. The variables gender, age, type of psycho-active substance (DSM-IV criteria), grade of severity, duration of use, times of poisoning and some differences between alcohol and opioid poisonings are investigated. RESULTS: Acute poisoning with psycho-active substances are 5.43% of all intoxications. The moderate grade of severity (48.5%), alcohol (62.8%) and opioid (15.3%) intoxications, debut poisoning (86.8%) and poisonings occurring in the initial period of use predominate. An increase of acute poisonings with psycho-active substances in the last third of the studied period (1990-2000) is established--severe forms (2.59 times) and recidivistic intoxication (4 times). Alcohol and opioid poisonings predominate among severe intoxications. The hospital stay is relatively short--1.75 +/- 0.67 and hospital lethality is 1.6%. CONCLUSIONS: 1. The moderate grade of severity, alcohol and opioid intoxications (especially in the severe grade cases), occurrence in the initial period of use and relatively short hospital stay predominate in acute poisonings with psycho-active substances in the period of socioeconomic crisis. Hospital lethality (1.6%) is ascertained only in severe alcohol intoxication. 2. An increase of acute poisonings with psycho-active substances--severe forms, mild forms and recidivistic intoxications is established in the last third (1998-2000) of the studied period. The most expressed increase is ascertained in 2000. 3. Urgent complex measures are necessary to contain the spread of psycho-active substances and acute poisonings with them. 相似文献
6.
The severe socioeconomic crisis in Bulgaria, accompanying the transition after the collapse of the totalitarian regime affected unfavorably the health status of the population, increasing the incidence of socially important diseases by making poverty, unemployment, emigration, alcoholism and drug addiction widespread. Systematic studies of acute poisoning suicide and poisoning mortality still lack. To analyze acute poisoning (AP) characteristics during this period in a large industrial-agricultural region of Bulgaria, we retrospectively examined 327 adult AP deaths in Plovdiv region 1990-1998. Males (73.1%) prevail in all age categories. As a caseload men predominate in "working age" categories, women in "pre/retirement age". Mortality rates tended to increase with age, more marked in men. The main cause of death from AP was alcohol intoxication in men (30.1%) and drugs in women (33.7%). Suicides prevailed over accidents (54.1% vs. 45.9%). Accidents were significantly higher in men, suicides in women; 57.5% received no medical aid for more men than women (61.9% vs. 45.5%). Untapped resource for decreasing AP mortality rates are patients who do not receive medical aid and die at home, although that is difficult to correct in a period of crisis. 相似文献
7.
8.
The aim of the study was to investigate the prevalence of minor physical anomalies in mentally healthy subjects by using the Waldrop Physical Anomaly Scale and to assess the reliability (internal consistency) of the scale. The subjects were 82 mentally healthy individuals (42 men, 40 women) of Bulgarian origin who were examined for minor physical anomalies. Mentally healthy individuals show a low mean score of minor physical anomalies. The anomalies prevail in the craniofacial region. The correlations between the anomalies are low, which implies poor internal consistency of the scale, probably due to the heterogeneity of the anomalies in terms of location, character, and time of prenatal development and adversity. Providing a base for comparative studies of developmental disorders, the findings infer the necessity of a more reliable scale for examination of informative morphogenetic variants which can distinguish between minor malformations and phenogenetic variants and suggest the period of prenatal adversity. Am. J. Hum. Biol. 15:61–67, 2003. © 2002 Wiley‐Liss, Inc. 相似文献
9.
Purification of Hageman factor (HF, factor XII) from human plasma is a tedious procedure and the product is not always in the precursor form. Hojima has described a protein derived from corn kernels that inhibits the enzymatic properties of HF. This inhibitor binds to the precursor form of HF. Rapid purification of HF was achieved by using as the major purification step adsorption of this clotting factor to popcorn inhibitor bound to agarose. The product had a specific activity of 50.0 to 67.1 coagulant units of HF per milligram protein, and the yield was 33% to 40% of the HF content of the starting plasma. The purified protein displayed a single band upon unreduced or reduced sodium dodecyl sulfate polyacrylamide gel electrophoresis and less than 0.1% was in an activated form, as measured in coagulant assays. The technique described is more rapid and reliable than methods described earlier. 相似文献
10.
PS SUKTHANKAR HK PARIKH BN BORGHAIN VH DESHMANE RS RAO DM PARIKH 《Medical Journal Armed Forces India》1998,54(3):196-198
A retrospective analysis of 127 surgically treated cases of T-1, T-2 carcinoma of oral tongue during the period 1987-1990 was undertaken. 68.5 per cent (87) underwent hemiglossectomy and 31.5 per cent (40) underwent wide excision. There were loco-regional recurrences in 22 per cent (27). In the hemiglossectomy group 9 per cent (8 of 87) had local recurrences compared to 25 per cent (10 of 40) of wide excision group, (P = 0.01). Mean disease free survival was 40 months and 33 months for hemiglossectomy group and wide excision group respectively, (P = 0.006). It is seen that local recurrences are significantly less for the hemiglossectomy group compared to the wide excision group.KEY WORDS: Disease free survival, Early cancer, Recurrence, Surgery, Tongue 相似文献