Rituximab or Cyclophosphamide in the Treatment of Membranous Nephropathy: The RI-CYCLO Randomized Trial

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Foreign body in ocular coats causing a pseudo optic nerve head shadow

Small intraocular foreign body in the outer coats of the eye may be wrongly interpreted as optic nerve head on ultrasound imaging. Such errors can be avoided by performing multiple sonography scans in different axes.     

Predictors of Treatment with Mastectomy, Use of Sentinel Lymph Node Biopsy and Upstaging to Invasive Cancer in Patients Diagnosed with Breast Ductal Carcinoma In situ (DCIS) on Core Biopsy

Background

There are few established indications for sentinel lymph node biopsy (SLNB) in breast ductal carcinoma in situ (DCIS). This study examines factors contributing to the high rate of SLNB in DCIS in Alberta, Canada.

Methods

Patients who underwent definitive surgery from January 2009 to July 2011 for DCIS diagnosed on preoperative core-needle biopsy were identified using a provincial synoptic operative report database (WebSMR). The relationship between baseline patient and tumor characteristics and treatment with total mastectomy (TM), use of SLNB, and upstaging were examined.

Results

There were 394 patients identified in the study cohort. Mean age was 57 years, and average preoperative tumor size was 3 cm. Overall, 148 patients (37.6 %) underwent TM; predictors were preoperative tumor size [odds ratio (OR), 1.92 per 1-cm increase in size; 95 % CI 1.65–2.24] and surgeon. Upstaging to invasive cancer at surgery occurred in 23 %, predicted only by preoperative tumor size (OR 1.14 per 1 cm; 95 % CI 1.03–1.27). SLNB was performed in 306 patients overall (77 %) and 140 of those treated with BCS (61 %). Predictors of SLNB were larger preoperative tumor size (OR 1.55 per 1 cm; 95 % CI 1.18–2.04) and the surgeon. In patients treated with BCS, 3 patients who were upstaged had positive SLNs (>0.2 mm), and no patients with DCIS had a positive SLN.

Conclusions

SLNB use is high in patients undergoing BCS for DCIS. Tumor size and the operating surgeon predicted SLNB use. Despite a 23 % upstaging rate, the rate of clinically significant positive SLNs in patients treated with BCS is low, supporting omission of upfront SLNB.     

Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele

Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for the genotype definition of non-syndromic deafness. Nevertheless, a single GJB2 pathogenic mutation is detectable in a relevant number of cases, therefore failing to explain the phenotype. We aimed at assessing the occurrence of the recently described del(GIB6-D13S1830) mutation, occurring in the connexin 30 gene, in a group of Italian hearing-impaired patients carrying a single GJB2 mutated allele. A total of 59 non-syndromic hearing loss (NSHL) patients were screened for GJB2 mutations. Among these, nine NSHL patients were found to be heterozygous for a single GJB2 mutation. These patients, heterozygotes for different GJB2 mutated alleles (35delG, L90P, M34T, V153I), together with 11 additional 35delG/neg cases previously described, were studied for the presence of the del(GIB6-D13S1830) mutation. Two double heterozygotes del(GIB6-D13S1830)/35delG were identified. In both cases the degree of hearing loss was profound. Furthermore, GJB2 molecular screening led to the identification of a novel change (T55G) occurring in compound heterozygosity with the V37I mutation. In conclusion, our data suggest a significant frequency of del(GIB6-D13S1830) mutation in Italian hearing-impaired subjects (10% of unexplained GJB2 heterozygotes) similar to that reported in other European countries.     

Predictors of renal and patient outcomes in atheroembolic renal disease: a prospective study

Atheroembolic renal disease (AERD) is part of a multisystemic disease accompanied by high cardiovascular comorbidity and mortality. Interrelationships between traditional risk factors for atherosclerosis, vascular comorbidities, precipitating factors, and markers of clinical severity of the disease in determining outcome remain poorly understood. Patients with AERD presenting to a single center between 1996 and 2002 were followed-up with prospective collection of clinical and biochemical data. The major outcomes included end-stage renal disease (ESRD) and death. Ninety-five patients were identified (81 male). AERD was iatrogenic in 87%. Mean age was 71.4 yr. Twenty-three patients (24%) developed ESRD; 36 patients (37.9%) died. Cox regression analysis showed that significant independent predictors of ESRD were long-standing hypertension (hazard ratio [HR] = 1.1; P < 0.001) and preexisting chronic renal impairment (HR = 2.12; P = 0.02); use of statins was independently associated with decreased risk of ESRD (HR = 0.02; P = 0.003). Age (HR = 1.09; P = 0.009), diabetes (HR = 2.55; P = 0.034), and ESRD (HR = 2.21; P = 0.029) were independent risk factors for patient mortality; male gender was independently associated with decreased risk of death (HR = 0.27; P = 0.007). Cardiovascular comorbidities, precipitating factors, and clinical severity of AERD had no prognostic impact on renal and patient survival. It is concluded that AERD has a strong clinical impact on patient and renal survival. The study clearly shows the importance of preexisting chronic renal impairment in determining both renal and patient outcome, this latter being mediated by the development of ESRD. The protective effect of statins on the development of ESRD should be evaluated in a prospective study.