Epilepsy and Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating mutations. Children with CFCS are prone to epilepsy, which is a major life-threatening complication. The aim of our study was to define the natural history of epilepsy in this syndrome and exploring genotype-phenotype correlations.

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.

Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications.

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

Background: Fetal alcohol spectrum disorder (FASD) refers to a broad spectrum of disabilities, in infants and children, resulting from moderate to excessive prenatal alcohol exposure. Significant associations with alcohol exposure were already reported with congenital structural heart defects: i.e.

Laser-Generated Proton Beams for High-Precision Ultra-Fast Crystal Synthesis.

We present a method for the synthesis of micro-crystals and micro-structured surfaces using laser-accelerated protons. In this method, a solid surface material having a low melting temperature is irradiated with very-short laser-generated protons, provoking in the ablation process thermodynamic conditions that are between the boiling and the critical point. The intense and very quick proton energy deposition (in the ns range) induces an explosive boiling and produces microcrystals that nucleate in a plasma plume composed by ions and atoms detached from the laser-irradiated surface.

Hyperspectral Monitoring of Green Roof Vegetation Health State in Sub-Mediterranean Climate: Preliminary Results.

In urban and industrial environments, the constant increase of impermeable surfaces has produced drastic changes in the natural hydrological cycle. Decreasing green areas not only produce negative effects from a hydrological-hydraulic perspective, but also from an energy point of view, modifying the urban microclimate and generating, as shown in the literature, heat islands in our cities. In this context, green infrastructures may represent an environmental compensation action that can be used to re-equilibrate the hydrological and energy balance and reduce the impact of pollutant load on receiving water bodies.

Laser-Accelerated Proton Beams as Diagnostics for Cultural Heritage.

This paper introduces the first use of laser-generated proton beams as diagnostic for materials of interest in the domain of Cultural Heritage. Using laser-accelerated protons, as generated by interaction of a high-power short-pulse laser with a solid target, we can produce proton-induced X-ray emission spectroscopies (PIXE). By correctly tuning the proton flux on the sample, we are able to perform the PIXE in a single shot without provoking more damage to the sample than conventional methodologies.

Update on the safety of second generation antipsychotics in youths: a call for collaboration among paediatricians and child psychiatrists.

During the past decade, a substantial increase in the use of second generation antipsychotics (SGAs) has occurred for a number of juvenile psychiatric disorders, often as off-label prescriptions. Although they were thought to be safer than older, first generation antipsychotics, mainly due to a lower risk of neurological adverse reactions, recent studies have raised significant concerns regarding their safety regarding metabolic, endocrinological and cardiovascular side effects. Aim of this paper is to update with a narrative review, the latest findings on safety of SGAs in youths.

Efficacy and Safety of Risperidone and Quetiapine in Adolescents With Bipolar II Disorder Comorbid With Conduct Disorder.

Although a frequent co-occurrence between bipolar disorder (BD) and conduct disorder (CD) in youth has been frequently reported, data about pharmacological management are scarce and focused on BD type I. Second generation antipsychotics are frequently used in clinical practice, but no comparative studies are available. The aim of this exploratory study was to compare efficacy and safety of risperidone and quetiapine in a sample of adolescents presenting a BD type II comorbid with CD.

Use of quetiapine in children and adolescents.

The atypical antipsychotic quetiapine has been used in different psychotic and non-psychotic disorders in children and adolescents in randomized clinical trials, open-label studies and chart reviews. Most of these studies suggest that quetiapine may be a promising agent with a potential for use in young patients. The aim of this paper is to critically review available literature on quetiapine in the treatment of children and adolescents with a variety of psychiatric disorders, including psychotic disorders, bipolar disorders (manic and depressive episodes), conduct disorder, autism spectrum disorder, Tourette's syndrome and personality disorders.

Intra-operative radiological margins assessment in conservative treatment for non-palpable DCIS: correlation to pathological examination and re-excision rate.

What constitutes an adequate surgical margin in partial mastectomy is still controversial: intra-operative specimen radiogram is commonly used during partial mastectomy for nonpalpable lesions in order verify the adequacy of the resection but what margin is to be considered "adequate" is still debatable. An intraoperative specimen mammogram was performed during all consecutive conservative resections for nonpalpable DCIS and a 15-mm radiological margin was considered "adequate". Margins were pathologically assessed and classified as "negative", "close" or "positive" and the rate of margin involvement constitued the main outcome of the study.

Nerve ultrasound follow-up in a child with Guillain-Barré syndrome.

Introduction: Nerve ultrasound has been used increasingly in neurophysiology laboratories, but data on Guillain-Barré syndrome (GBS) are still limited, and no follow-up studies are available.

Case Report: An 8-year-old boy was admitted with severe demyelinating GBS. Serial neurophysiological evaluations were performed initially and in follow-up.

Reporting intellectual capital in health care organizations: specifics, lessons learned, and future research perspectives.

This article analyzes the concept of intellectual capital (IC) in the health sector sphere by studying the case of a major nonprofit research organization in this sector, which has for some time been publishing IC reports. In the last few years, health care organizations have been the object of great attention in the implementation and transfer of managerial models and tools; however, there is still a lack of attention paid to the strategic management of IC as a fundamental resource for supporting and enhancing performance improvement dynamics. The main aim of this article is to examine the IC reporting model used by the Center of Molecular Medicine (CMM), a Swedish health organization which is an outstanding benchmark in reporting its IC.

Treatment of multidrug resistant advanced alveolar soft part sarcoma with sunitinib.

Sunitinib is a tyrosine kinase/angiogenesis inhibitor with proven efficacy in gastrointestinal stromal tumor and advanced renal cell carcinoma. We are presenting the case report of a patient with aggressive alveolar soft part sarcoma with lung and bone metastases, who had failed multiple chemotherapy regimens showing significant response to sunitinib. There was not only complete regression of the primary tumor, stabilization of his bone metastases and significant improvement in the quality of life.

[Overnight surgery in proctology and anesthesia type: our experience on 320 patients].

Background: Several evidences demonstrated that general anaesthetics associated with local anaesthesia show more advantages in comparison to spinal anaesthesia in proctological surgery. Aim of this study was to verify the efficacy of deep general anaesthesia associated with a loco-regional anesthesiological technique, in a grade population of 320 patients affected by haemorrhoidal disease and anal fissure.

Patients And Methods: Patients with III-IV grade haemorrhoids and chronic posterior anal fissures has been eligible for this study while were excluded patients with history of allergic reaction or pharmacological hypersensibility to naropine, propofol o similar drugs.

[Proctological surgery: use of a salsobromoiodic gel solution in the post-operative period].

Background: This study was aimed to demonstrate the advantages and the efficacy of a salsobromoiodic gel solution sponge to use in coloproctology after surgery for the most frequent pathologies of anal canal and of perineal region.

Materials And Methods: The Authors have tested the salsobromoiodic gel solution (Fertomcidina U) in a consecutive series of patients referred to 5 coloproctological centers where they have been submitted to surgery for pathologies of anal canal and of perineal region. A total of 30 patients, 15 with clinico-instrumental diagnosis of III-IV degree haemorrhoids and 15 with diagnosis of chronic anal fissure entered in a clinical follow-up after an out-patient setting or surgery for the respective pathologies.

Minilaparoscopic colorectal resection: a preliminary experience and an outcomes comparison with classical laparoscopic colon procedures.

Background: Laparoscopy has rapidly emerged as the preferred surgical approach for a number of different diseases because it allows for a correct diagnosis and proper treatment. However, it is not being applied in a widespread manner for the management of benign or malignant colorectal disease. Its natural evolution seems to be the development of mini-instruments and optics (diameter, View Article and Find Full Text PDF

[Colorectal cancer surgery. Analysis of risk factors in relation to incidence of morbidity and mortality].

The aim of the study was to investigate risk factors in relation to the incidence of morbidity and mortality in surgery for colorectal cancer. Between 1986-2005, 328 patients underwent colorectal cancer surgery, 308 of whom (93.9%) in elective and 20 (6.

Improvement in the fertility rate after placement of microsurgical shunts in men with recurrent varicocele.

Objective: To evaluate the effectiveness of microsurgical shunts for secondary varicocele repair after ligation-like procedures, focusing on long-term functional outcomes.

Design: Long-term survey (mean follow-up, 8.5 years) of infertile men after secondary microsurgical reconstructive varicocelectomy.

[Extrauterine endometriosis: what interest for the general surgeon? Presentation of 3 clinical cases and review of the literature].

Extragonadal endometriosis is rarely diagnosed preoperatively for the variety of its localizations. Presentations to general surgeons may be atypical and pose diagnostic difficulty, mimicking other acute diseases. We report three cases treated with surgical operation.

[Objectives of a bloodless surgery program. A comparative study (major surgery vs. minor-medium surgery) in 51 Jehova's Witnesses patients].

Aim: The purpose of this retrospective review of the charts of 51 Jehovah's Witness patients, who underwent surgery without blood transfusions, was to compare two study groups (major surgery vs minor-medium surgery).

Methods: We compared the following variables: age, sex, length of stay, type of surgical operation, use of intraoperative red cell salvaging devices, hemodilution, number of drainages and their stay, postoperative blood loss, complications, need of reoperation and mortality rate. Between medical variables we focused on blood production therapy and nutritional support (administration of iron, folate, erythropoietin and albumin) and blood tests (at the first day of admission; intraoperative; at the first postoperative day; at the discharge).

[Severity of anemia and operative morbidity and mortality. Report on 3 clinical cases in Jehovah's Witnesses and review of the literature].

It has been reported that patients who refuse blood transfusions, such as Jehovah's witnesses, can undergo major surgery. In a review of the literature, however, we critically examined the severity of anaemia in relation to operative mortality and morbidity rates. We report three cases of Jehovah's witnesses who underwent major surgery and presented complication during the postoperative period.

Preliminary results of neoadjuvant paclitaxel and carboplatin in the treatment of early stage non-small cell lung cancer.

The purpose of this study is to determine the feasibility of delivering neoadjuvant paclitaxel (Taxol; Bristol-Myers Squibb Company, Princeton, NJ) and carboplatin to patients with clinical early stage (stage I and II) non-small cell lung cancer. Although neoadjuvant chemotherapy appears to prolong survival in patients with stage IIIA non-small cell lung cancer, several studies have demonstrated an increase in perioperative mortality associated with this approach. This study is designed to address whether three cycles of paclitaxel (200 mg/m2/3 hour, day 1) and carboplatin (area under the concentration-time curve 5, day 2) can be given preoperatively to patients with clinical stage I and II non-small cell lung cancer and to assess the associated toxicities, pathologic response rate, disease-free survival, and overall survival of this group of patients.