Polymyositis: Essential Information for Primary Care Providers

Polymyositis is one of a rare group of skeletal muscle diseases known as idiopathic inflammatory myopathies. The etiology is not fully understood, and its clinical presentation is often vague yet similar to more common neuromuscular diseases, making diagnosis difficult. A number of different tests are available to assist providers in making an accurate diagnosis. Once a diagnosis is made, there are a number of various treatment modalities available. Nurse practitioners must be familiar with treatment protocols and follow-up. The focus of this article is on polymyositis; its presentation, signs, and symptoms; the process of accurate diagnosis; and common treatment strategies.     

The role of response evaluation criteria in solid tumour in anticancer treatment evaluation: Results of a survey in the oncology community

PurposeWith the increasing use of novel targeted agents and the development of high imaging techniques, response evaluation criteria in solid tumour (RECIST) 1.1 developed primarily for cytotoxic agents and anatomic imaging, has demonstrated limitations. A survey was conducted of RECIST users to identify concerns and their suggestions for future RECIST criteria.Methods140 key partners of the RECIST collaboration were asked to complete a questionnaire. The 49 questions concerned (a) satisfaction and concerns with RECIST 1.1; (b) use of modified RECIST criteria and (c) suggestions for the next RECIST Version.ResultsSixty-five replies were received. 52.3% responders were satisfied with RECIST 1.1, while 10.8% indicated dissatisfaction. Areas of potential weakness included: (a) lack of incorporation of potential early indicators of response such as functional imaging, (b) lack of validation in rarer tumour types and (c) lack of validation for novel (targeted) agents. Suggestions were multiple, with highest numbers on two points: developing sub-criteria for certain disease types and including advanced imaging techniques for the evaluation.ConclusionsConstructive suggestions were received for optimising the next version. Ongoing data collection will make it possible to investigate the possible utilisation of fluorodeoxyglucose-positron emission tomography (FDG-PET) imaging in tumour assessment, to verify whether RECIST is/can still be applicable in novel targeted therapy and to consider the need for criteria for specific disease types.     

Patients with early recurrence of hepatocellular carcinoma have poor prognosis

BACKGROUND: Early recurrence(ER) after hepatic resection(HR) is a poor prognostic factor for patients with hepatocellular carcinoma(HCC). This study aimed to identify the clinicopathological features, outcomes, and risk factors for ER after HR for small HCC in order to clarify the reasons why ER is a worse recurrence pattern.METHODS: We retrospectively examined 130 patients who underwent HR for small HCC(≤30 mm). Recurrence was classified into ER(2 years) and late recurrence(LR)(≥2 years). The clinicopathological features, outcomes, and risk factors for ER were analyzed by multivariate analysis.RESULTS: ER was observed in 39 patients(30.0%). The survival rate of the ER group was significantly lower than that of the LR group(P0.005), and ER was an independent prognostic factor for poor survival(P=0.0001). The ER group had a significantly higher frequency(P=0.0039) and shorter interval(P=0.027) of development to carcinoma beyond the Milan criteria(DBMC) compared with the LR group, and ER was an independent risk factor for DBMC(P0.0001). Multi-nodularity, non-simple nodular type, and microvascular invasion were independent predictors for ER(P=0.012, 0.010, and 0.019, respectively).CONCLUSIONS: ER was a highly malignant recurrence pattern associated with DBMC and subsequent poor survival after HR for small HCC. Multi-nodularity, non-simple nodular type, and microvascular invasion predict ER, and taking these factors into consideration may be useful for the decision of the treatment strategy for small HCC after HR.     

Tuberous sclerosis complex: Recent advances in manifestations and therapy

Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin–Tuberin complex is involved in the phosphoinositide 3‐kinase–protein kinase B–mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions. Constitutive activation of mammalian target of rapamycin complex 1 causes variable manifestations in tuberous sclerosis complex. Recently, genetic tests were launched to diagnose tuberous sclerosis complex, and mammalian target of rapamycin complex 1 inhibitors are being used to treat tuberous sclerosis complex patients. As a result of these advances, new diagnostic criteria have been established and an indispensable new treatment method; that is, “a cross‐sectional medical examination system,” a system to involve many experts for tuberous sclerosis complex diagnosis and treatments, was also created. Simultaneously, the frequency of genetic tests and advances in diagnostic technology have resulted in new views on symptoms. The numbers of tuberous sclerosis complex patients without neural symptoms are increasing, and for these patients, renal manifestations and pulmonary lymphangioleiomyomatosis have become important manifestations. New concepts of tuberous sclerosis complex‐associated neuropsychiatric disorders or perivascular epithelioid cell tumors are being created. The present review contains a summary of recent advances, significant manifestations and therapy in tuberous sclerosis complex.     

肝囊型包虫病药物治疗疗效标准的研究

目的　进一步研究和评价囊型包虫病药物治疗的疗效判定标准。　方法　采用前瞻性随机对照观察的研究方法。对 4 9例肝囊型包虫病病人进行了研究 ,其中治疗组 31例为经过不同时间阿苯达唑乳剂治疗的病人。对照组 18例为未经任何治疗的病人。以外科手术、粗针穿刺抽吸和常规细针穿刺的方法采集包虫囊内容物观察其性状。囊壁组织石腊切片观察组织学变化。收集原头节通过镜下形态及活动的观察、染料排斥试验、犬胆汁激活试验及接种小鼠腹腔 6个月后剖检观察有无包虫囊生长的方法判定囊内原头节的死活。结合 CT及 B超影像特征进行比较评价。　结果　治疗组病人中87.1% (2 1/ 31)的包虫囊 B超影像显示不同程度的退行变性 ,育囊率为 2 2 .6 %。对照组病人包虫囊的 B超影像显示退行变性的占 11.1% (2 / 18) ,育囊率为 6 1.1%。治疗组判定为痊愈的 15例病人的育囊率为 13.3% (2 / 15 )。疗效标准与 B超影像反映的包虫囊变性死亡的过程一致 ,与寄生虫学和囊壁组织学变化趋势相符。177例停药后随访 1～ 4年的肝囊型包虫病病人的转归证明了这一标准的可靠性。　结论　本研究提出的以 B超影像为基础的肝囊型包虫病药物治疗疗效指标反映了包虫囊在药物作用下从正常生长到变性死亡的过程 ,是一个比较客观、合理的疗效标     

Rendimiento diagnóstico de la secuenciación de genes de hipercolesterolemia familiar en sujetos con hipercolesterolemia primaria

Introduction and objectivesOur objective was to approximate the prevalence of mutations in candidate genes for familial hypercholesterolemia (FH) in a middle-aged Spanish population and to establish the predictive value of criteria for clinical suspicion in the detection of causative mutations.MethodsUnrelated individuals aged ≥ 18 years from the Aragon Workers’ Health Study (AWHS) with high low-density lipoprotein cholesterol (LDL-C) and clinical suspicion of FH (participants with LDL-C concentrations above the 95th percentile, participants with premature cardiovascular disease and/or participants with high LDL-C [130 mg/dL] under statin therapy), assuming that any participant with FH exhibits at leats 1 trait, were selected and the LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 genes were sequenced by next generation sequencing technology.ResultsOf 5400 individuals from the AWHS, 4514 had complete data on lipid levels and lipid-lowering drugs, 255 participants (5.65%) met the criteria for suspicion of FH, 24 of them (9.41%) were diagnosed with hyperlipoproteinemia(a), and 16 (6.27% of those sequenced) were found to carry causative mutations in candidate genes: 12 participants carried 11 different pathogenic LDLR alleles and 4 participants carried 1 pathogenic mutation in PCSK9. LDL-C concentrations > 220 mg/dL and LDL-C > 130 mg/dL despite statin therapy showed the strongest association with the presence of mutations (P = .011).ConclusionsOur results show that the prevalence of FH in Spain is 1:282 and suggest that the combination of high untreated LDL-C and high levels of LDL-C despite statin therapy are the best predictors of a positive FH genetic test.     

Use of accurate diagnostic criteria may increase incidence of stercoral perforation of the colon

PURPOSE: Stercoral perforation of the colon is reported to be a rare disease with poor prognosis. The aim of this study was to determine the frequency of stercoral perforation of the colon, to define diagnostic criteria for stercoral perforation of the colon, and to analyze the patient outcome in a university hospital gastrointestinal surgery unit. METHODS: From November 1993 until November 1998 all surgically treated patients with a colorectal disease were prospectively recorded in a computerized database. Diagnosis of stercoral perforation of the colon was made if 1) the colonic perforation was round or ovoid, exceeded 1 cm in diameter, and lay antimesenteric; 2) fecalomas were present within the colon, protruding through the perforation site or lying within the abdominal cavity; and 3) pressure necrosis or ulcer and chronic inflammatory reaction around the perforation site were present microscopically. Any additional colon pathology led to exclusion from the diagnosis of stercoral perforation of the colon. Using the same criteria, 81 cases in the literature were found to qualify and were further analyzed. RESULTS: In a five-year period 1,295 patients underwent colorectal interventions through laparotomy. A total of 566 (44 percent) cases were emergencies, 220 (17 percent) of these caused by colonic perforation. Seven patients had stercoral perforation of the colon. The incidence of stercoral perforation of the colon was 0.5 percent of all surgical colorectal procedures through laparotomy, 1.2 percent of all emergency colorectal procedures, and 3.2 percent of all colonic perforations. The mean age of the patients was 59 (median, 64; range, 22–85) years. All perforations were situated in the left hemicolon or upper rectum. The round or ovoid perforation had a mean diameter of 3.6 cm. Fecalomas were present in all patients and protruded from the perforation site or were found within the free abdominal cavity in three of them. Generalized stercoral peritonitis was a constant finding. Using a colonic resection without immediate restoration of continuity, an extensive intraoperative lavage, and antibiotics, there was no in-hospital mortality. Analysis of the reports in the literature revealed additionally that 28 percent of patients with stercoral perforation of the colon have multiple stercoral ulcers in the colon and that substantial mortality is encountered if only minor surgical procedures of treatment are used. CONCLUSIONS: The incidence of stercoral perforation of the colon seemed to have been underestimated. The reason for this might be the lack of defined diagnostic criteria for this disease. Low mortality is obtained by early surgical eradication of the affected part of the colon, including all stercoral ulcers, and by aggressive therapy for peritonitis.Presented in part at the meeting of the Swiss Society of Surgery, Lugano, Switzerland, June 9 to 12, 1999.     

Appropriateness of angiography for suspected coronary artery disease

The aim of this study was to assess the appropriate use of diagnostic catheterizations (DC) for the patients with suspected coronary artery disease performed in Iran. The Electronic Health Record System database and manual review of files were utilised to collect data between 2012 and 2014. Patients were categorized in three groups as appropriate, uncertain, and inappropriate usage of DC and the logistic regression was used to investigate the relationships between variables. One-quarter of the 2458 angiographies were rated as inappropriate, out of which 99% had no previous stress test. The rate of inappropriate DC between various hospitals were approximately the same. The regression showed that some risk factors (Sex, high cholesterol, smoking, chronic heart failure, renal failure, diabetes) were significantly associated with inappropriate rate.     

Scrub typhus: Clinical spectrum and outcome

Background:

Scrub typhus is one of the differential diagnoses for fever with thrombocytopenia. ARDS associated with Scrub typhus has high morbidity and mortality.

Aims:

To evaluate clinical features, lab values, and outcome in patients with scrub typhus and comparison in patients with or without ARDS.

Methods:

A prospective observational study was conducted on 109 patients with febrile illness and thrombocytopenia during a period of 12 months. All 109 patients were tested with both Immune-chromatography test and Weil felix test. Patients having either Immune-chromatography test/Weil felix test positive have been included and considered as scrub typhus positive whereas negative for both Immune-chromatography and Weil felix test were excluded. Clinical features, lab parameters, and outcome were evaluated in all patients with scrub typhus. Statistical analysis used in this study was T-test.

Results:

Among 58 patients who were included (After exclusion of 51 patients among total of 109 patients) 34 patients had no ARDS and 24 patients had ARDS. The clinical feature like dyspnoea, cough, low blood pressure (MAP<65 mmHg), IVC collapsibility (by ultrasound) and laboratory parameters like decreased Hemoglobin, Hematocrit, Serum albumin, and increased serum creatinine, serum total bilirubin, SGOT, SGPT, LDH, CPK, and serum lactate were statistically significant (P < 0.0001) in scrub typhus patients group with ARDS. The higher titers of Weil-felix can be correlated with more severe form of disease according to our observation. All 34 Scrub typhus patients without ARDS recovered completely. Among 24 Scrub typhus patients with ARDS, 22 patients recovered, and 2 patients died.

Conclusion:

Scrub typhus is an important differential diagnosis in a patients having fever with thrombocytopenia. Scrub typhus associated with ARDS has high morbidity and mortality. Early diagnosis and treatment with doxycycline can prevent the occurrence of ARDS     

A comparison of the performance characteristics of classification criteria for the diagnosis of psoriatic arthritis

OBJECTIVE: To compare the accuracy of published classification criteria for the diagnosis of psoriatic arthritis (PsA) and to see whether data-derived classification criteria would be more accurate. METHODS: Data were abstracted from case-note review and radiographic review of patients identified with PsA or rheumatoid arthritis (RA) from 2 clinical disease registers. Each patient was classified according to 7 criteria sets. The test performance characteristics were compared using conditional logistic regression analysis. In an attempt to overcome the problems of the diagnostic gold standard, latent class analysis also was used to calculate test-performance characteristics. Classification and regression-tree methodology was used to derive new criteria and to indicate the diagnostic importance of particular data items, especially rheumatoid factor (RF). RESULTS: Four hundred ninety-nine patients were identified with RA (n=156) or PsA (n=343). Excluding the criteria of Fournie, which could not be applied in 24% of subjects, 446 cases could be classified by all of the other 6 methods. The most sensitive criteria for the diagnosis of PsA were those of Vasey and Espinoza, McGonagle, and Gladman (99%), whereas the others were significantly less sensitive (between 56% and 94%). The specificity of the criteria was high and statistically similar (between 93% and 99%). The Fournie criteria were the most difficult to use, whereas the Vasey and Espinoza and Moll and Wright criteria were the easiest (98% of subjects were able to be classified). A 2-latent class model found very similar test-performance characteristics. Logistic regression and classification and regression-tree models suggested that negative RF was not necessary for diagnosis in the presence of other characteristic features of PsA. CONCLUSIONS: Apart from the Bennett and European Spondyloarthropathy Study Group criteria, which have inadequate sensitivity, the published classification criteria for PsA have similar test-performance characteristics. These data suggest that the criteria proposed by Vasey and Espinoza, Gladman, or McGonagle are the most accurate and feasible in distinguishing between PsA and RA. Relevance International agreement about classification criteria for PsA will assist the interpretation of clinical and epidemiologic research. However, further prospective studies on unselected patients with and without PsA, including controls with non-rheumatoid inflammatory arthritis, are required to confirm these findings.