Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients

Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Results: Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. Conclusions: Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients. \ua9 2016 Published by the BMJ Publishing Group Limited

budget impact analysis of a biosynthetic mesh for incisional hernia repair

Abstract Purpose With the development of newer prostheses for hernia repair, it is nowadays difficult to understand the total cost of managing patients treated with these advanced medical devices, especially in the complex abdomen, in which various complications may occur. The aim of this study was to determine the economic implications of these prostheses in order to inform decision making in the management of incisional hernia repair. Methods A budget impact analysis model was developed to evaluate the economic consequences related to the management of patients undergoing complex (Centers for Disease Control and Prevention wound class II–III or Ventral Hernia Working Group grade 2/3) incisional hernia repair through biosynthetic, synthetic, or biological meshes, from the hospital perspective in Italy. The model was populated with complication rates mainly retrieved from the literature to compare the current scenario with 60%, 10%, and 30% rates of synthetic, biosynthetic, and biological mesh utilization, respectively, with future hypothetical scenarios that consider increasing rates of biosynthetic mesh utilization with respect to the other types of mesh in the next 5 years. Hospital costs of the different events were estimated based on health care resource consumption derived from an electronic survey addressed to key opinion leaders in the field. Findings The analysis compared the current scenario with future hypothetical scenarios that consider increasing utilization rates of biosynthetic meshes of 25%, 38%, and 44% in the next 1, 3, and 5 years, as estimated by clinicians. Considering 40,000 incisional hernia repairs per year, an increasing use of the biosynthetic meshes may result in a decrease in the total hospital budget of about €153 million in the next 5 years, with a savings per patient of about €770. Implications The findings of this study support the use of biosynthetic meshes for complex abdominal wall repairs in Italy, showing a potential decrease in the hospital budget in Italy after the diffusion of the new biosynthetic prostheses. Further studies and data from clinical practice would provide additional information to increase the understanding of the economic sustainability of these advanced devices

Glycosaminoglycans in human trabecular meshwork: Age-related changes

Glycosaminoglycans play a central role in maintaining the normal outflow resistance in the human trabecular meshwork. We evaluated the possible morphological, histochemical and morphometrical age-related changes in glycosaminoglycans of the trabecular meshwork. Small human samples were drawn from 24 eyes after exitus from young and old humans. Samples were harvested from the anterior chamber of the eye, without any aesthetic damage for the face. They were divided into three fragments, each used for morphological, histochemical and ultrastructural staining. Quantitative analysis of images was performed to evaluate morphometrical data that were statistically analysed. Our findings demonstrate the following age-related changes: ( 1) deposition of fibrous granular material in the trabecular meshwork; ( 2) increased electron density of the structures; ( 3) strong decrease in the hyaluronic acid content, and ( 4) increase in sulphated proteoglycans. Glycosaminoglycans of human trabecular meshwork undergo age-related changes, as demonstrated by our morphological, histochemical and morphometrical results. Copyright (C) 2004 S. Karger AG, Basel

Effect of systemic anti-hypertensive drugs on intraocular pressure

Lo scopo di questo lavoro è lo studio degli effetti dei principali farmaci anti-ipertensivi sulla pressione intra-oculare e sul campo visivo. Sono stati arruolati 600 pazienti, tutti i pazienti sono stati divisi in quattro gruppi:il primo gruppo di 200 pazienti sono stati trattati con somministrazione locale o sistemica di bloccanti del canale del calcio ;il secondo gruppo di 200 pazienti sono stati trattati con -bloccanti sistemici o orali; il terzo gruppo di 100 pazienti sono stati trattati con somministrazione sistemica di ACE-inibitori e, il quarto gruppo di 100 pazienti sono stati trattati con un farmaco diuretico (acetazolamide). I nostri risultati confermano che la somministrazione orale di bloccanti del canale del calcio (nitrendipina) in soggetti con moderata ipertensione e senza ipertono oculare causa una moderata riduzione della pressione intraoculare, mentre l’instillazione oculare dello stesso farmaco ha effetto ipotonizzante. Lo scotoma nei soggetti glaucomatosi con pressione normalizzata migliora dopo somministrazione locale di bloccanti del canale del calcio. La somministrazione orale di -bloccanti è correlata con una riduzione della pressione intraoculare, e specialmente riduce la pressione sistemica. Inoltre, è stato dimostrato che la somministrazione di ACE-inibitore è efficace nella riduzione della pressione intraoculare dovuta ad alcuni meccanismi che agiscono sulle arterie ciliari posteriori che sono responsabili del flusso ematico del corpo ciliare. Infine, l’acetazolamide, un diuretico utilizzato usualmente per ridurre la pressione del sangue, è capace di ridurre anche la pressione intra-oculare