Argument for renal cyst aspiration

This report deals with the experience of performing aspiration biopsies of 139 renal masses, which include 20 renal carcinomas, I abscess, and 118 cysts. The argument in favor of following urography by cyst aspiration on an outpatient basis in those patients believed to represent cysts of the kidney is developed and offered as the logical approach in the resolution of most of the problems of renal masses.     

Exploratory data from complete genomes of familial alzheimer disease age‐at‐onset outliers

Identifying genes that modify the age at onset (AAO) of Alzheimer disease and targeting them pharmacologically represent a potential treatment strategy. In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzheimer disease due to the autosomal dominant mutation p.Glu280Ala in PSEN1 (MIM# 104311; NM_000021.3:c.839A>C). The disease and its AAO are highly heritable, motivating our search for genetic variants that modulate AAO. The median AAO of dementia in carriers of the mutant allele is 49 years. Extreme phenotypic outliers for AAO in this genetically isolated population with limited environmental variance are likely to harbor onset modifying genetic variants. A narrow distribution of AAO in this kindred suggests large effect sizes of genetic determinants of AAO in these outliers. Identity by descent (IBD) analysis and a combination of bioinformatics filters have suggested several candidate variants for AAO modifiers. Future work and replication studies on these variants may provide mechanistic insights into the etiopathology of Alzheimer disease. Hum Mutat 33:1630–1634, 2012. © 2012 Wiley Periodicals, Inc.     

Use of the short-acting insulin analogue lispro in intensive treatment of Type 1 diabetes mellitus: importance of appropriate replacement of basal insulin and time-interval injection-meal

To establish whether lispro may be a suitable short-acting insulin preparation for meals in intensive treatment of Type 1 diabetes mellitus (DM) in patients already in chronic good glycaemic control with conventional insulins, 69 patients on intensive therapy (4 daily s.c. insulin injections, soluble at each meal, NPH at bedtime, HbA_1c <7.5 %) were studied with an open, cross-over design for two periods of 3 months each (lispro or soluble). The % HbA_1c and frequency of hypoglycaemia were assessed under four different conditions (Groups I–IV). Lispro was always injected at mealtime, soluble 10–40 min prior to meals (with the exception of Group IV). Bedtime NPH was continued with both treatments. When lispro replaced soluble with no increase in number of daily NPH injections (Group I, n = 15), HbA_1c was no different (p = NS), but frequency of hypoglycaemia was greater (p < 0.05). When NPH was given 3–4 times daily, lispro (Group II, n = 18), but not soluble (Group III, n = 12) decreased HbA_1c by 0.35 ± 0.25 % with no increase in hypoglycaemia. When soluble was injected at mealtimes, HbA_1c increased by 0.18 ± 0.15% and hypoglycaemia was more frequent than when soluble was injected 10–40 min prior to meals (Group IV, n = 24) (p < 0.05). It is concluded that in intensive management of Type 1 DM, lispro is superior to soluble in terms of reduction of % HbA_1c and frequency of hypoglycaemia, especially for those patients who do not use a time interval between insulin injection and meal. However, these goals cannot be achieved without optimization of basal insulin. © 1998 John Wiley & Sons, Ltd.     

Dystonia: diagnosis and management

Clinical practice in dystonia has greatly evolved in recent years; a synthetic review on patient management is provided here. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures or both. A recent classification has innovated clinical practice and serves as guidance for clinical assessment: Axis I describes clinical features, whereas Axis II indicates etiology. Dystonia presents with different syndromic aggregations with varied somatic involvement and some common features. There are five recognizable physical signs of dystonia: two main signs (dystonic postures and movements) and three additional signs (gestes antagonistes or tricks, mirror dystonia and overflow dystonia). There is still no validation of diagnostic criteria for the different dystonia syndromes, and many cases with mild phenomenology remain undiagnosed. Patients with dystonia also present non‐motor features that are variably combined with the movement disorder. The features of the most common inherited and acquired dystonia syndromes are reviewed here. There is clear evidence of genetic–environmental interaction in the determinism of dystonia. The diagnostic process is guided by clinical examination and based on specific laboratory examinations. Symptomatic treatments are available for dystonia: botulinum neurotoxin injections are the primary choice for most focal dystonia syndromes; deep brain stimulation is useful in some generalized and non‐generalized syndromes. Additional treatment strategies are currently being assessed.     

Raymond Prince and the R. M. Bucke memorial society for the study of religious experience

The study of the relationship between psychiatry and religion has become an issue of increasing importance for both research and clinical practice. This article presents the history of the R. M. Bucke Memorial Society for the Study of Religious Experience, established by Raymond Prince in Montréal in 1964 as one of the first scientific societies whose aim was to investigate those characteristics of religious experience of interest to psychiatry. It also describes some of Prince's own studies on religious experience.     

The CAP-CR study: direct medical costs in Italian metastatic colorectal cancer patients on first-line infusional 5-fluorouracil or oral capecitabine

AimTo describe the healthcare resource consumption of metastatic colorectal cancer (MCRC) patients in the Italian healthcare setting.MethodsA retrospective chart analysis estimating direct medical costs of first-line infusional 5-Fluorouracil (5-FU) or oral Capecitabine (CAP), associated or not with other chemotherapies, from the Italian Healthcare Service (IHCS) and Hospital (H) perspectives.Results202 subjects were analysed. CAP patients (N = 66) were older, with a more compromised clinical status and received less chemotherapy agents in association than 5-FU patients (N = 136). From the IHCS perspective, mean total costs per patient were €12,029 and €5,781 in the 5-FU and CAP arms respectively; €7,338 and €4,688 from the H perspective. The infusional administration route of 5-FU was a cost driver from both perspectives. Sensitivity analyses found the results to be robust to variations in base case parameters.ConclusionsManagement of MCRC by oral chemotherapies may be an economically advantageous option to both IHCS and hospitals.     

The role of life events in the myasthenia gravis outcome: a one-year longitudinal study

We examined 51 patients suffering from myasthenia gravis (MG) and studied the relevance of stressful life events in relation to the course of the disease. Life events were assessed by means of the Paykel's Interview for Recent Life Events. The stage severity of MG was assessed by means of the Osserman and Genkins scale, twice per patient, at one year intervals. Simultaneously, life events were assessed for the 12 months preceding each of the 2 assessments of MG. Over the 2 MG evaluations 16 patients improved, 6 worsened and in 29 no change took place. Using life events data collected at the first interview, and applying a prospective design, no difference was found between patients who improved and those who remained unchanged or worsened. Life events reported at the second interview, as having occurred during the inter-assessment year, and collected according to a retrospective design, were significantly fewer in improvers than in non-improvers.