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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
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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
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Erin Karlstedt Victor Jimenez-Zepeda Jonathan G. Howlett James A. White Nowell M. Fine 《Journal of cardiac failure》2019,25(3):147-153
Background
The tolerability and utility of combination doxycycline and ursodeoxycholic acid (ursodiol) amyloid fibril disruption therapy for transthyretin cardiac amyloidosis (ATTR CA) in clinical practice is poorly described.Methods and Results
We report the clinical experience of 53 ATTR CA patients treated with doxycycline and ursodiol. Six patients (11%) did not tolerate the therapy owing to dermatologic and gastrointestinal effects. Of those remaining, the median follow-up was 22 months (range 8–30), mean age was 71 ± 11years, 41 (87%) were male, and 42 (89%) had wild-type and 5 (11%) mutant ATTR. Five patients (11%) died during follow-up. There was no significant change in New York Heart Association (NYHA) functional class, cardiac biomarkers, or echocardiographic parameters during follow-up. Left ventricular (LV) global longitudinal systolic strain (GLS) improved in 16 patients (38%) (?12 ± 4% to ?17 ± 4%; P < .01). Patients whose LV GLS improved were significantly younger and had lower NYHA functional class, troponin-T, N-terminal pro–B-type natriuretic peptide (BNP), and baseline LV GLS levels compared with those whose LV GLS did not improve. Troponin-T improved in follow-up for patients whose LV GLS improved (35 ± 21 to 20 ± 14 ng/L; P?=?.06).Conclusions
Doxycycline and ursodiol therapy for treatment of ATTR CA was tolerable and was associated with stabilized markers of disease progression. LV GLS improved in patients with less advanced disease. 相似文献5.
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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
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Holly Lee Peter Duggan Ahsan Chaudhry Paola Neri Jason Tay Fariborz Rashid-Kolvear Nizar J. Bahlis Victor H. Jimenez-Zepeda 《Clinical Lymphoma, Myeloma & Leukemia》2018,18(1):e69-e75
Introduction
Multiple myeloma is a heterogeneous disease with diverse clinical courses and patient outcomes. Although the introduction of novel agents has improved the overall survival (OS) of multiple myeloma patients, reports have highlighted that a subset of patients persists who experience early relapse (ER) and whose prognosis is significantly poorer than that of patients with a longer therapy response.Methods
The purpose of the present study was to understand the effect of ER on OS and identify other predictors of OS. We analyzed the outcomes of 257 patients who had undergone novel agent-based induction and single autologous stem cell therapy at our center from 2010 to 2016.Results
ER occurred in 35 patients (13.6%), and the group had a greater percentage of high-risk cytogenetics (48.5% vs. 23.3%; P = .0001), a lower percentage of a very good partial response or better (51.4% vs. 80.5%; P = .001), and a shorter median OS (17.8 months vs. not realized; P = .0001) compared with the non-ER group. Multivariate analysis showed that the presence of ER, high-risk cytogenetics, and lactate dehydrogenase > 350 UI/L are independent prognosticators for OS (P < .05).Conclusions
Our results have demonstrated that ER is an important clinical indicator of patients at high risk. As applications of novel agents evolve, further studies are required to tailor therapy for this patient group. 相似文献9.
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
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用抗小鼠EGF抗血清作第一抗体,用ABC免疫组织化学方法对生后3、6、9、12、15、21d龄和成年BALB/c小鼠肾脏内EGF的定位进行了研究。实验表明,EGF样免疫反应均定位于远端小管,且多集中于上述部位细胞的顶部。新生幼鼠和3d龄鼠的肾脏切片上EGF样免疫反应为阴性。6d龄切片上EG免疫反应甚弱。随年龄增长,EGF样免疫反应亦增强。21d龄小鼠肾脏较其他年龄组和成年鼠有较强的免疫反应。本研究 相似文献