Review: Danon disease: Review of natural history and recent advances.

Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is inherited as an X-linked dominant trait. The primary deficiency of lysosome-associated membrane protein-2 (LAMP-2) causes disruption of autophagy, leading to an impaired fusion of lysosomes to autophagosomes and biogenesis of lysosomes. We surveyed over 500 Danon disease patients reported in the literature from the first description to the present, in order to summarize the clinical, pathological and molecular data and treatment perspectives. An early molecular diagnosis is of crucial importance for genetic counselling and for therapeutic interventions: in male patients, the prognosis is poor due to rapid progression towards heart failure, and only heart transplantation modifies the disease course.

Chemotherapy-induced nausea and vomiting (CINV) in patients with advanced lung cancer during the first-line treatment: assessment by physicians, nurses, and patients from an Italian multicenter survey.

PURPOSE: Chemotherapy-induced nausea and vomiting (CINV) still represents a common side-effect of chemotherapy, and often, its perception differs between patients and healthcare professionals. The aim of this study was to evaluate the agreement on the perception of CINV and other items among clinicians, patients, and nurses. METHODS: This observational prospective study was part of an evaluation program promoted by the Women Against Lung Cancer in Europe (WALCE) Onlus. From August 2015 to February 2016, a survey was administered in 11 oncologic institutions to 188 stage IV lung cancer patients and to their oncologists and nurses during first-line chemotherapy. Our survey investigated 11 aspects: anxiety, mood, weakness, appetite, nausea, vomiting, pain, drowsiness, breath, general condition, and trust in treatments. These items were assessed through Numerical Rating Scale at four consecutive evaluations: at T0 (immediately prior to the first cycle), at T1 (immediately prior to the second cycle), at T2 (immediately prior to the third cycle), and at T3 (immediately prior to the fourth cycle). Clinician versus patient (CvP), nurse versus patient (NvP), and clinician versus nurse (CvN) agreements were estimated applying Weighted Cohen's kappa. A multivariate logistic model and generalized equation estimates were applied to evaluate factors possibly influencing CINV development. RESULTS: The incidence of patients reporting CINV varied from 40% at T0 to 71% at T3. Both CvP and NvP agreement on the investigated items were mainly moderate, slightly increasing over time, and becoming substantial for some items, in particular for NvP. Pre-chemotherapy anxiety in its mild, moderate, and severe manifestations, as well as mild, moderate, and severe anxiety experienced after chemotherapy start, exposed patients to a higher risk of anticipatory and acute/delayed CINV, respectively. CONCLUSIONS: Despite clinical staff awareness of patients' status and perceptions, CINV still represents a clinical problem. This study confirms that particular attention should be paid to anxiety due to its key role in CINV development.

Epidemiology of chronic spontaneous urticaria: results from a nationwide, population-based study in Italy.

BACKGROUND: Chronic spontaneous urticaria (CSU) is a common skin disease, but there is a paucity of precise epidemiological data on this disease. OBJECTIVES: To obtain information on the epidemiology of CSU in Italy. METHODS: The data source was the Health Search IMS Health Longitudinal Patient Database. The study population was formed by patients aged ≥ 15 years, registered with a total of 700 general practitioners, homogeneously distributed across Italy. An algorithm based on the International Classification of Diseases, ninth revision, Clinical Modification was used for the identification of patients with CSU. The annual prevalence and incidence rates of CSU over a 12-year period (2002-2013) were estimated, along with demographic and clinical determinants. RESULTS: The annual prevalence of CSU ranged from 0·02% in 2002 to 0·38% in 2013. The incidence was 0·10-1·50 per 1000 person-years. For both prevalence and incidence rates, female patients outnumbered male. The risk of CSU was statistically significantly higher in the presence of the following variables: obesity; anxiety, dissociative and somatoform disorders; malignancies; use of immunosuppressive drugs; and chronic use of systemic corticosteroids. History of autoimmune thyroiditis showed a trend towards an increased risk of CSU, though it was not statistically significant. Smoking was associated with a significantly reduced risk of CSU. CONCLUSIONS: Our findings on CSU prevalence are consistent with those obtained in previous studies. Furthermore, this large population-based study provides important information regarding the association of CSU with demographic and clinical determinants, which have been examined in the primary-care setting.

What drives inhaler prescription for asthma patients? Results from a real-life retrospective analysis.

BACKGROUND: The choice of inhaler device for asthma patients depends upon multiple attributes. We investigated factors that may drive general practitioners (GPs) and respiratory specialists in the prescription of inhaler devices for asthma patients who initiated inhalation therapy. METHODS: We retrospectively analysed prescriptions by GPs and respiratory specialists to asthma patients commencing inhaled corticosteroid/long-acting ß2-agonist combination therapy available as both pressurised metered-dose inhalers (pMDIs) and dry powder inhalers (DPIs). Patient characteristics were compared by device and multivariate analysis was used to model the likelihood of receiving a pMDI as opposed to a DPI in order to identify drivers for prescription. A sample of the respiratory specialists completed an ad-hoc survey of their perceived success in achieving asthma control in their patients and barriers to attaining full control. RESULTS: Prescription of a particular inhaler device was unrelated to the characteristics of the patients. Multivariate analysis revealed that the main driver for the choice of inhaler device was the medication (Odds Ratio and 95% Confidence Interval, respectively for GPs and specialists: 0.19 [0.16-0.23]; 0.17 [0.08-0.37]). Specialists perceived asthma as being inadequately controlled in 41% of their patients, and considered patients' difficulties in using DPIs and pMDIs as instrumental in this, citing a need for a novel, more effective inhaler technology. CONCLUSION: Physicians choose inhaler devices according to the prescribed drugs and not to the characteristics of the individual patient. This may reflect a lack of confidence in existing inhaler devices and underlines the need for technologies, which are more reliable and easier to use by patients.

Update on polyglucosan storage diseases.

An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disorders manifesting with a variety of clinical phenotypes that affect mainly the nervous system (Lafora disease, adult PG body disease), the heart (glycogen storage disease type XV, hypertrophic cardiomyopathy type 6, PG body myopathy type 1) and the skeletal muscle (glycogen storage disease type IV, glycogen storage disease type VII, PG body myopathy type 2), depending on the organs which are mostly affected by the PG aggregates. The pathological feature of PG storage in tissues is a hallmark of these disorders. Whole-genome sequencing has allowed to obtain a diagnosis in a large number of patients with a previously unrecognized disorder. We describe the clinical, pathological and molecular features of these genetic disorders, for many of which the pathological mechanisms underlying the corresponding mutant gene have been investigated and, at least in part, understood.

Obstruction or no obstruction.

The authors review critically such parameters as symptomatology, post-micturition residual urine, bladder trabeculation and uroflowmetry that in the actual state of the art appear more accredited in the evaluation of lower urinary tract obstruction. All have some interpretative limits. However, uroflowmetry appears to be the most reliable and for this reason it is the first step in the study of suspected infravesical obstruction. It can discover equivocal situations in which pressure-flow studies only supply diagnostic help in order to avoid false diagnosis of infravesical obstruction and useless therapeutic approaches.

[Carcinoma of the penis: our current therapeutic attitude]. / Carcinoma del pene: nostro attuale orientamento terapeutico.

24 cases of penile carcinoma, occurred from 1970 to 1979, have been examinated. The role of limphoadenectomy, the treatment of the primitive lesions and their consequences are discussed. It is opinion of the authors that the risks and the benefits of the treatment must be carefully evalued.

Rate of intravenous thrombolysis for acute ischaemic stroke in the North-of-France region and evolution over time.

The proportion of patients with ischaemic stroke treated by intravenous (i.v.) recombinant tissue plasminogen activator (rt-PA) is an indicator of quality of stroke care. The objective of the study is to evaluate the rate of i.v. thrombolysis in the North-of-France region and its evolution over time. We determined the proportion of inhabitants treated by i.v. rt-PA in 2009-2010 (period A; 8 stroke units, no telemedicine) and 2012 (period B; population campaigns, 12 stroke units with telemedicine in 5). We used hospital registries from the 12 stroke units, and population-based data were collected in a subpopulation of 226,827 inhabitants (5.6% of the whole population). 1,563 inhabitants received i.v. rt-PA for stroke (period A: 835 in 24 months; period B: 728 in 12 months). Hospital and population data were similar. Annual rates of thrombolysis increased from 103 per million inhabitants [95% confidence interval (CI) 85-125] to 181 (95% CI 157-209; relative increase 76%, 95% CI 67-83%). This rate increased in 12 districts (significantly in 6), but the increase was greater in districts where new stroke units, telemedicine, or both were implemented. In conclusion, although the proportion of patients treated was already high in period A, there was still place for improvement. Implementation of new stroke units, extension of the telemedicine network and new population campaigns are necessary to improve the rate of thrombolysis in several areas, to ensure an equal access to treatment over the whole territory. The next step is now to determine whether this high rate of i.v. rt-PA delivery at the population level translates into clinical results.

Physically-Based Interactive Flow Visualization Based on Schlieren and Interferometry Experimental Techniques.

Understanding fluid flow is a difficult problem and of increasing importance as computational fluid dynamics (CFD) produces an abundance of simulation data. Experimental flow analysis has employed techniques such as shadowgraph, interferometry, and schlieren imaging for centuries, which allow empirical observation of inhomogeneous flows. Shadowgraphs provide an intuitive way of looking at small changes in flow dynamics through caustic effects while schlieren cutoffs introduce an intensity gradation for observing large scale directional changes in the flow. Interferometry tracks changes in phase-shift resulting in bands appearing. The combination of these shading effects provides an informative global analysis of overall fluid flow. Computational solutions for these methods have proven too complex until recently due to the fundamental physical interaction of light refracting through the flow field. In this paper, we introduce a novel method to simulate the refraction of light to generate synthetic shadowgraph, schlieren and interferometry images of time-varying scalar fields derived from computational fluid dynamics data. Our method computes physically accurate schlieren and shadowgraph images at interactive rates by utilizing a combination of GPGPU programming, acceleration methods, and data-dependent probabilistic schlieren cutoffs. Applications of our method to multifield data and custom application-dependent color filter creation are explored. Results comparing this method to previous schlieren approximations are finally presented.

[Locoregional staging of prostatic neoplasms by extemporaneous histological examination of pelvic lymph nodes]. / Stadification loco-régionale des cancers prostatiques par l'examen histologique extemporané des ganglions pelviens.

Pelvic lymphadenectomy prior to radical prostatectomy is essential to detect lymph nodal extension of prostatic cancer. Accuracy obtained by means of frozen section examination of the nodes is particularly favourable. Frozen sections correspond to paraffin sections in 100% of the cases. Authors' experience in 42 consecutive patients candidates to radical prostatic procedure is herein presented.

[Mesonephric adenocarcinoma of the bladder]. / L'adénocarcinome mésonéphrique de la vessie.

The authors report on the third case in the world of mesonephric adenocarcinoma of the bladder. The tumour which may well derive from embryonic rests of mesonephric origin, developed in the region of the bladder neck and proximal urethra. The symptoms that led to the consultation consisted of dysuria with episodes of complete urinary retention. Clinical examination and IVU confirmed the presence of a tumour which could be seen on endoscopy, thus enabling biopsy. As there were no metastases, irradiation with telecobalt cured this patient. The undesired side-effect was the development of bladder retraction. This necessitated a cutaneous transcolic ureterostomy. The histological structure of these tumours is distinctive and easily recognizable and should not be missed by the pathologist. In regard to this rare tumour, it is interesting to note its radiosensitivity, and hence the potential of radiotherapy to effect a cure in patients so afflicted.

[Occult urothelial neoplasia: diagnosis]. / La néoplasie urothéliale occulte: iter diagnostique.

The authors report their experience in the diagnosis of the hidden neoplasia based on the follow-up of 27 patients with carcinoma in situ of the bladder. Urine cytology and mapping histology are the most effective examinations for the detection and follow up of an occult urothelial neoplasm.

Prognosis of bladder cancer. I. Risk factors in superficial transitional cell carcinoma.

A retrospective study was carried out on 200 consecutive superficial transitional cell carcinomas of the bladder in order to identify which factors could influence the recurrence and/or progression of the tumor. Many parameters were considered, such as stage, grade, number, size, site, tumor-free interval and bladder mucosa mapping. A careful histological study of the initial tumor was employed and the tumors confined to the stromal core of the papillary tumor (T1a) were separated from those with invasion of the lamina propria of the bladder wall (T1b). The behavior of the T1b lesions observed in our study will be discussed in a forthcoming article. Recurrence occurred in 83% of our patients, and it was influenced by number and grade of the tumor and by the presence of dysplasia in normal-appearing mucosa. In 20% of our patients tumor progression occurred. Tumor progression was correlated with invasion of the lamina propria of the bladder wall, high-grade neoplasias, tumor-free interval, dysplasia or carcinoma in situ in normal-appearing mucosa. The results of our study suggest that, by these risk factors, a better prediction of the behavior of superficial transitional cell carcinoma and, as a consequence, more appropriate treatment can be provided.