Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.     

Identification of Candida species in the clinical laboratory: a review of conventional,commercial, and molecular techniques

In healthy individuals, Candida species are considered commensal yeasts of the oral cavity. However, these microorganisms can also act as opportunist pathogens, particularly the so‐called non‐albicans Candida species that are increasingly recognized as important agents of human infection. Several surveys have documented increased rates of C. glabrata, C. tropicalis, C. guilliermondii, C. dubliniensis, C. parapsilosis, and C. krusei in local and systemic fungal infections. Some of these species are resistant to antifungal agents. Consequently, rapid and correct identification of species can play an important role in the management of candidiasis. Conventional methods for identification of Candida species are based on morphological and physiological attributes. However, accurate identification of all isolates from clinical samples is often complex and time‐consuming. Hence, several manual and automated rapid commercial systems for identifying these organisms have been developed, some of which may have significant sensitivity issues. To overcome these limitations, newer molecular typing techniques have been developed that allow accurate and rapid identification of Candida species. This study reviewed the current state of identification methods for yeasts, particularly Candida species.     

玻片法单人份免疫分型试剂盒在白血病诊断中的应用

0引言白血病免疫分型是指用已知的单克隆抗体(单抗)鉴定细胞表面或胞质内的分化抗原的方法.该方法的临床应用有利于白血病的鉴别及诊断.我们采用单人份免疫分型试剂盒对128例白血病患者进行了免疫分型.     

常见妇科疾病引起的雌激素水平变化与骨转换的关系

女性常见的妇科疾病如子宫内膜异位症、子宫内膜癌、乳腺癌、Sheehan综合征等,其病程中体内雌激素水平变化,直接或间接地影响骨转换水平,导致骨量变化。本文研究不同疾病状态下,疾病本身因素或手术及药物治疗对女性卵巢功能和雌激素水平的影响,从而影响骨转换率,导致继发性骨质疏松。有助于预防和治疗女性激素相关性骨量下降和骨质疏松,提高女性患者的生活质量。     

Brain natriuretic peptide at discharge as a predictor of 6-month mortality in acute decompensated heart failure

Background

Brain natriuretic peptide (BNP) is well established in detecting acute decompensation of heart failure (ADHF). The role of BNP at discharge in predicting mortality is less established. Accumulating evidence suggests that inflammatory cytokines play an important role in the development of heart failure. We aimed to examine the contribution of BNP, interleukin 6, and procalcitonin to mortality in ADHF.

Methods

A cohort of 33 patients with ADHF was identified between March 2009 and June 2010 at Rambam Health Care Campus, Haifa, Israel. The cohort was followed up for all-cause mortality during 6 months after hospital discharge. Cox proportional hazard model was used to assess the association between BNP, interleukin-6 and procalcitonin and all-cause mortality.

Results

As compared to BNP at admission, BNP at discharge was more predictive for all-cause mortality. The area under the curve for BNP at admission and discharge was 0.810 (P = .004) and 0.864 (P = .001) respectively. Eleven patients (33.3%) patients who died during the follow-up period had higher BNP levels, median 2031.4 (IQR, 1173.4-2707.2), than those who survived; median 692.5 (IQR, 309.9-1159.9), (P = .001). On multivariate analysis, BNP remained an independent predictor for 6 month all-cause mortality HR 9.58 (95% CI, 2.0-45.89) for levels above the median compared to lower levels, (P = .005). Albumin, procalcitonin and interleukin 6 were not associated with all-cause mortality.

Conclusions

BNP at discharge is an independent predictor for all-cause mortality in patients with ADHF. Compared with BNP at admission, BNP at discharge has slightly higher predictive accuracy with regard to 6-month all-cause mortality.     

Transcranial Doppler screening in sickle cell disease: The implications of using peak systolic criteria

AIM: To compare time average maximum mean velocity(TAMV) and peak systolic velocity(PSV) criteria of Trans Cranial Doppler(TCD) in their ability to predict abnormalities on magnetic resonance imaging(MRI)/magnetic resonance angiogram(MRA) in patients with sickle cell disease. METHODS: A retrospective evaluation was performed of the outcomes in all patients with a Transcranial Doppler examination at our institution since the implementation of the hospital picture archiving and communication system(PACS) system in January 2003 through December 2012. All ultrasound imaging exams were performed by the same technologist with a 3 MHz transducer. Inclusion criteria was based upon the Transcranial Doppler procedure code in our PACS which had an indication of sickle cell disease in the history. The patient’s age and gender along with the vessel with the highest time averaged mean velocity as well as the highest peak systolic velocity was recorded for analysis. A subset of the study cohort also had subsequent MR imaging and Angiograms performed within 6 mo of the TCD examination. MRI results were categorized as having a disease related abnormality(vessel narrowing, collateral formation/moya-moya, or abnormal fluid attenuation inversion recovery signal in parenchyma indicative of prior stroke) or normal. The MRI results formed the comparison standards for TCD exams in evaluating intracranial injury. Sensitivity and specificity for the two TCD criteria(TAMV and PSV) were calculated to determine which could be a better predictor for intracranial vasculopathy /clinically occult strokes.RESULTS: The study cohort for our institution was 110patients with a total of 291 TCD examinations. These patients had a mean age of 7.6 years with a range from 2-18 years of age. Sixty-two of the 110 patients(56%) had two or more TCD exams. Thirty-seven patients(34%) had at least one MRI following a TCD examination. Of the 291 TCD examinations, 46(16%) were conditional or abnormal by TAMV criteria. One hundred and sixteen(40%) were conditional or abnormal by PSV criteria. All studies that were abnormal by TAMV were also abnormal by PSV criteria. Seventy of the 116(60%) studies which were conditional or abnormal by peak systolic criteria would not have been identified by time averaged mean maximum velocity criteria. The most frequent location of highest velocity measurement was noted to be in the middle cerebral artery regardless of whether it was measured by PSV or TAMV. From the 37 patients having one or more MRIs, 43 MRI exams were performed within 6 mo of a TCD examination. Twenty two(51%) MRIs had a disease related abnormality reported. When evaluating conditional or abnormal exams by PSV criteria against follow-up MRI/MRA, the sensitivity was 73% [16/(16 + 6)] and specificity was 81% [17/(4 + 17)]. When evaluating conditional or abnormal exams by TAMV criteria by follow-up MRI/MRA as the gold standard, the sensitivity was 41% [9/(9 + 13)] and the specificity was 100% [21/(21 + 0)]. In using conditional or abnormal criteria from PSV and TAMV to predict abnormalities on followup MRI/MR Angiogram, PSV was more sensitive(73% vs 41%) while TAMV was more specific(100% vs 81%). CONCLUSION: Based on the data obtained at our institution and using the assumption that the best screening test is the one with the highest sensitivity, the peak systolic velocity could be the measurement of choice for TCD screening.     

Effectiveness of a Lifestyle Intervention Program Among Persons at High Risk for Cardiovascular Disease and Diabetes in a Rural Community

Purpose: To evaluate the feasibility of translating the Diabetes Prevention Program (DPP) lifestyle intervention into practice in a rural community. Methods: In 2008, the Montana Diabetes Control Program worked collaboratively with Holy Rosary Healthcare to implement an adapted group-based DPP lifestyle intervention. Adults at high risk for diabetes and cardiovascular disease were recruited and enrolled (N = 101). Participants set targets to reduce fat intake and increase physical activity (≥150 mins/week) in order to achieve a 7% weight loss goal. Findings: Eighty-three percent (n = 84) of participants completed the 16-session core program and 65 (64%) participated in 1 or more after-core sessions. Of those completing the core program, the mean participation was 14.4 ± 1.6 and 3.9 ± 1.6 sessions during the core and after core, respectively. Sixty-five percent of participants met the 150-min-per-week physical activity goal during the core program. Sixty-two percent achieved the 7% weight loss goal and 78% achieved at least a 5% weight loss during the core program. The average weight loss per participant was 7.5 kg (range, 0 to 19.7 kg), which was 7.5% of initial body weight. At the last recorded weight in the after core, 52% of participants had met the 7% weight loss goal and 66% had achieved at least a 5% weight loss. Conclusion: Our findings suggest that it is feasible to implement a group-based DPP in a rural community and achieve weight loss and physical goals that are comparable to those achieved in the DPP.     

Congenital anomalies of lumbosacral spine: A pictorial review

Congenital malformations of the lumbosacral spine include spinal dysraphism and caudal anomalies. Most often, these malformations are discovered prenatally or in early infancy, but some are not diagnosed until late childhood or adulthood. The purpose of this pictorial review is to illustrate the multi‐modality imaging characteristics in these complex anomalies and to provide a systematic radiological approach aiming at improving diagnostic accuracy.     

Imaging findings of familial Mediterranean fever

PURPOSE: The aim of this study was to study the imaging findings of familial Mediterranean fever (FMF). MATERIALS AND METHODS: We performed a retrospective review of the medical records and imaging studies of 38 patients with proven FMF, diagnosed between 1992 and 2002. RESULTS: The most common clinical manifestation was recurrent peritoneal attacks with abdominal pain (76.3%) and fever (42.1%). Abdominal imaging findings included ileus (n=12), splenomegaly (n=5), hepatomegaly (n=2), ascitis (n=2), focal peritonitis (n=2), mesenteric streaking (n=1), and enlarged mesenteric lymph node (n=1). One patient developed fatal peritoneal mesothelioma, and 13.1% of the patients developed amyloidosis with sonographic findings of renal parenchymal disease or cardiomyopathy. Arthritis was second in frequency, occurring in 34.2% of patients; radiographs were normal (n=4) or showed joint effusion and periarticular soft tissue swelling (n=4) due to synovitis. One patient developed seronegative destructive arthropathy. Skin lesions were noted in 23.6% of patients. Pleuritis was encountered in 13.1% and pericarditis in 5.2%. Polyarteritis nodosa (PAN) was present in two patients, multiple sclerosis in one, and autoimmune hemolytic anemia in one patient. CONCLUSION: FMF predominantly involves abdominal viscera but can affect other organs. The majority of patients have nonspecific imaging findings, and the radiologic diagnosis is rarely considered. Amyloidosis, mesothelioma, and destructive arthropathy are potential serious complications of FMF. PAN, multiple sclerosis, and autoimmune hemolytic anemia are probably rare associations or rather than coincident with FMF.     

刺果甘草化学成分的研究

从刺果甘草(Glycyrrhiza pallidiflora Maxim)的根和根茎中分离到五种化合物,经理化性质和光谱方法鉴定,化合物P-2为4-羟基-2,4’-二甲氧基查尔酮,为一新的化合物,命名为刺果甘草查尔酮(glypallichalcone,P-2)。其它分别为4'-O-methyl-coumestrol(P-1),谷氨酸乙酰化物(N-acetylglutamicacid,P-3)和芒柄花素(formononetin,P-4),均为首次从该植物中获得。此外还得到β-谷甾醇(β-sitos-terol,P-5)