Binocular sensitivity and specificity of screening tests in cross‐sectional diagnostic studies of paired organs

We introduce new binocular accuracy measures as alternatives to conventional marginal measures that can be used to evaluate screening tests in diagnostic studies involving paired organs (e.g. eyes and ears). Specifically, we consider screening studies based on a cross‐sectional design, where both diagnosis and disease status are determined after study enrolment or sampling, yielding paired binocular binary data described via two models, namely, the extended common correlation model and the Gaussian copula probit model. The first relies on the assumption of exchangeability of fellow organs, while the second is more flexible. Binocular versions of sensitivity and specificity are defined, respectively, as the probability of at least one correct positive diagnosis in patients with one or both organs truly diseased and the probability of two correct negative diagnoses for patients with both organs truly un‐diseased. Comparisons between the conventional marginal and binocular sensitivities and specificities are illustrated for both models using data from a diabetic retinopathy study. We show that our methodology provides a viable alternative to conventional ways of assessing diagnostic accuracy of screening tests for paired organs. The binocular versions of sensitivity and specificity reflect the way screening tests are conducted in practice, and they overcome the shortcomings of conventional measures. Copyright © 2017 John Wiley & Sons, Ltd.     

Heterogeneity of hepatitis C virus genotypes in hemophilia: relationship with chronic liver disease

In this study we have determined the hepatitis C virus (HCV) serotype and genotype in a cohort of 96 HCV-infected hemophiliacs and have examined the relationship between HCV genotype and severity of chronic liver disease as determined by liver biopsy. HCV serotype was determined by specific enzyme-linked immunosorbent assays (ELISAs) and genotype by restriction fragment length polymorphism (RFLP) and HCV viral sequencing. The pattern of genotype distribution was quite unlike that of HCV-infected United Kingdom (UK) blood donors in that five of the six known HCV genotypes were represented, 50% were type 1, 13% type 2, and 18% type 3. An unexpected observation was the presence of HCV genotype 4 in four patients and type 5 in two patients. An additional feature was the presence of mixed infection, detected in 14% and 7% by serotype and genotype analysis, respectively. Liver biopsies were available from 51 patients. Cirrhosis was present in five of 27 (19%) of individuals with type 1, in 2 of 9 (22%) with type 2, and 5 of 8 (63%) of those with type 3. The heterogeneous pattern of HCV genotype distribution in this cohort of patients and the observed relationship between the severity of the related liver disease and specific HCV genotype may have important implications with respect to the natural history and treatment of HCV-related chronic liver disease in infected hemophiliacs worldwide.     

Proposal of an ultrasonographic classification for hepatic alveolar echinococcosis: Echinococcosis multilocularis Ulm classification-ultrasound

AIM: To establish an ultrasonographic classification based on a large sample of patients with confirmed hepatic alveolar echinococcosis(AE).METHODS: Clinical data and ultrasonography(US) findings of 185 patients(100 males; 85 females; mean age at diagnosis: 51.4 ± 17.6 years; mean age at time of US examination: 58.7 ± 18.2 years) were retrospectively reviewed with respect to the US morphology of hepatic AE lesions. The sonomorphological findings were grouped according to a five-part classification scheme.RESULTS: Application of the new classification resulted in the following distribution of sonomorphological patterns among the patients examined: hailstorm(54.1%); pseudocystic(13.5%); ossification(13.0%); hemangioma-like(8.1%); and metastasis-like(6.5%). Only 4.9% of lesions could not be assigned to a sonomorphological pattern.CONCLUSION: The sonomorphological classification proposed in the present study facilitates the diagnosis,interpretation and comparison of hepatic alveolar echinococcosis in routine practice and in the context of scientific studies.     

DJ‐1 is a Parkinson's disease susceptibility gene in southern Italy

De Marco EV, Annesi G, Tarantino P, Nicoletti G, Civitelli D, Messina D, Annesi F, Arabia G, Salsone M, Condino F, Novellino F, Provenzano G, Rocca FE, Colica C, Morelli M, Scornaienchi V, Greco V, Giofrè L, Quattrone A. DJ‐1 is a Parkinson's disease susceptibility gene in southern Italy. Mutations in the gene DJ‐1 have been shown to be a rare cause of early‐onset Parkinson's disease (EOPD). Since DJ‐1 mutations have been found in patients with Parkinson's disease (PD) from southern Italy, we aimed to investigate whether polymorphisms within the DJ‐1 gene could represent a risk factor for sporadic PD. First, we genotyped 294 patients with PD and 298 controls coming from southern Italy to assess the distribution of the insertion/deletion (Ins/Del) polymorphism. In a second phase, we identified five single‐nucleotide polymorphisms (SNPs) useful to delimit a region potentially involved and genotyped all patients and controls for these markers. All the markers analyzed were significantly associated with PD at both allelic and genotypic level. The most significant association with the disease was found at the Ins/Del polymorphism (p = 0.0001; adjusted odds ratio (OR ) = 2.05; confidence interval (CI ) = 1.36–3.08). When we considered a three‐marker sliding window, we found a highly significant association between the disease and the haplotypes including markers rs17523802, Ins/Del, and rs3766606 (p = 0.0007) and markers Ins/Del, rs3766606 and rs7517357 (p = 0.0054). Our results indicate that polymorphisms located in a region spanning 3535 bp from the promoter to the intron 2 of the DJ‐1 gene confer risk to sporadic PD in southern Italy.     

Polymorphonuclear leucocyte transfusion in neonatal septicaemia

In one neonatal intensive care unit during a 15 month period 6 infants developed septicaemia which was resistant to antibiotic treatment. The infants' mean gestational age and birthweight were 32.7 weeks and 1519 g respectively. Intravenous infusions of polymorphonuclear leucocytes were given. Three infants died and the remainder survived without complications. No side effects of the treatment were identified.     

Surgical pathology of colorectal cancer in Filipinos: implications for clinical practice

BACKGROUND: A number of studies published in the Philippine literature have demonstrated certain peculiar clinicopathologic characteristics of colorectal cancer among Filipinos. This study presents the latest data and analyzes their implications for clinical practice. STUDY DESIGN: The pathology reports of all patients who underwent operation for colorectal cancer at the Philippine General Hospital over a period of 7 years were reviewed. RESULTS: One thousand two hundred seventy-seven patients were included. The male to female ratio was almost 1:1. The majority of patients were in the sixth and seventh decades of life, with a mean age of 55.3 years. Patients 40 years of age and younger made up 17% of the total. The site of cancer in order of frequency was rectum (49.8%), left colon (27.9%), and right colon (21.4%). Cancers of the right colon were more common in women, and rectal cancers were more frequent in men. Seventy-six percent of the tumors were well to moderately differentiated adenocarcinomas, and 6.7% were poorly differentiated. Mucinous and signet ring carcinomas were found in 11% and 1% of cases, respectively. Forty-four percent of patients had localized disease at the time of operation, 54% had regional disease, and 2% had disseminated disease. Associated predisposing conditions noted were polyps (4.7%), schistosomiasis (3%), and tuberculosis (1.5%). CONCLUSIONS: Colorectal cancer in Filipinos exhibits a number of unique clinicopathologic features, such as a higher proportion of early age of onset tumors, more advanced stage at presentation, an association with chronic granulomatous diseases, and relatively rare occurrence with polyps. This might suggest the possibility of a different pathway for tumor development of colorectal cancer in this population of patients. Also, current screening guidelines advocated for the Western population might not be appropriate for Filipinos.     

一个新型的双二萜生物碱

普格乌头(Aconitum pukeense W.T.Wang)分布于云南东北部和四川西南部,生长在海拔3400～3500米山地谷中竹林边或沟边。因其根部毒性很强,可用作箭毒,在云南巧家药山又称之为弩箭药。民间常将其泡制后用于治疗跌打损伤等症。该植物的化学成