Critical aspects in the legal defence of patients with Tourette's Syndrome: An Italian case series.

Tourette's syndrome (TS) is a developmental neurobehavioral disorder with childhood onset and relevant burden in terms of disability and reduced quality of life. In Italy the biological basis of this syndrome is still frequently ignored and TS is often recognised as a psychiatric manifestation, or even it is not recognised as pathology, which may result in inadequate treatment, social isolation and improper hospitalization. Indeed, the organic medical nature of TS needs to be taken into great consideration in evaluating causality of committing crimes in affected patients.

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.

Methods: Patients with lacunar stroke or TIA were included in the present study.

Maxillary Alveolar Ridge Atrophy Reconstructed With Autogenous Bone Graft Harvested From the Proximal Ulna.

Atrophy of the alveolar ridge requires bone grafting at the implant site for rehabilitation of the masticatory function with dental implants. Despite the advances in the development of bone substitutes, autogenous bone graft remains the "criterion standard" because of its osteogenic, osteoinductive, osteoconductive potential, and non-immunogenic properties. However, harvesting of autogenous bone is not exempt from donor site morbidity.

Laparoscopic Trans-Abdominal Right Adrenalectomy for a Large Primitive Adrenal Oncocytic Carcinoma: A Case Report and Review of Literature.

BACKGROUND Adrenocortical oncocytic neoplasms (AONs) are extremely rare tumors. AONs are classified as: oncocytoma (AO), oncocytic neoplasm of uncertain malignant potential (AONUMP), and oncocytic carcinoma (AOC). Among the 162 reported cases of AONs in the literature, 30 cases were classified as malignant.

How I manage medical complications of β-thalassemia in adults.

The complex pathophysiology in β-thalassemia can translate to multiple morbidities that affect every organ system. Improved survival due to advances in management means that patients are exposed to the harmful effects of ineffective erythropoiesis, anemia, and iron overload for a longer duration, and we started seeing new or more frequent complications in adult compared with younger patients. In this article, we highlight particular aspects of managing adult patients with β-thalassemia, using our own experience in treating such patients.

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.

Pyruvate kinase deficiency (PKD) is the most common glycolytic defect leading to hemolytic anemia. PKD is caused by the mutations in the PKLR gene; however, the detection of a decreased PK activity should be first measured for rapid diagnosis. We report here the case of a 1-year-old girl with mild hemolysis and PKD.

Sex differences in stroke and major adverse clinical events in patients with atrial fibrillation: A systematic review and meta-analysis of 993,600 patients.

Background: Atrial fibrillation (AF) is the most commonly diagnosed arrhythmia, which is associated with an increased risk of stroke. Several studies have suggested that female AF patients could have a greater risk for stroke and thromboembolic events (TE).

Methods: A systematic literature review update and meta-analysis was conducted using Pubmed.

Ruxolitinib in elderly patients with myelofibrosis: impact of age and genotype. A multicentre study on 291 elderly patients.

Ruxolitinib is a JAK1/2 inhibitor that may control myelofibrosis (MF)-related splenomegaly and symptoms and can be prescribed regardless of age. While aging is known to correlate with worse prognosis, no specific analysis is available to confirm that ruxolitinib is suitable for use in older populations. A clinical database was created in 23 European Haematology Centres and retrospective data on 291 MF patients treated with ruxolitinib when aged ≥65 years were analysed in order to assess the impact of age and molecular genotype on responses, toxicities and survival.

A realist review to understand the efficacy and outcomes of interventions designed to minimise, reverse or prevent the progression of frailty.

Interventions to minimise, reverse or prevent the progression of frailty in older adults represent a potentially viable route to improving quality of life and care needs in older adults. Intervention methods used across European Innovation Partnership on Active and Healthy Ageing collaborators were analysed, along with findings from literature reviews to determine 'what works for whom in what circumstances'. A realist review of FOCUS study literature reviews, 'real-world' studies and grey literature was conducted according to RAMESES (Realist and Meta-narrative Evidence Synthesis: Evolving Standards), and used to populate a framework analysis of theories of why frailty interventions worked, and theories of why frailty interventions did not work.

Residual Peripheral Blood CD26 Leukemic Stem Cells in Chronic Myeloid Leukemia Patients During TKI Therapy and During Treatment-Free Remission.

Chronic myeloid leukemia (CML) patients in sustained "deep molecular response" may stop TKI treatment without disease recurrence; however, half of them lose molecular response shortly after TKI withdrawing. Well-defined eligibility criteria to predict a safe discontinuation up-front are still missing. Relapse is probably due to residual quiescent TKI-resistant leukemic stem cells (LSCs) supposedly transcriptionally low/silent and not easily detectable by BCR-ABL1 qRT-PCR.

Adjunctive use of antimicrobial photodynamic therapy in the treatment of medication-related osteonecrosis of the jaws: A case report.

Medication-related osteonecrosis of the jaws is a delayed healing condition commonly recognized as a serious adverse effect of antiresorptive therapy and is particularly associated with aminobisphosphonate treatment. In the present report, a 62-year-old osteoporotic female patient treated with intramuscular injections of clodronate for 3 years exhibited clinical signs of exposed necrotic bone and inflamed mucosa 4 months after tooth extractions in the mandibular interforaminal region. The treatment consisted of sequestrectomy, open-flap debridement, and adjunctive use of antimicrobial photodynamic therapy to decontaminate the affected hard and soft tissues.

The Aspirin Regimens in Essential Thrombocythemia (ARES) phase II randomized trial design: Implementation of the serum thromboxane B assay as an evaluation tool of different aspirin dosing regimens in the clinical setting.

Once-daily (od), low-dose aspirin (75-100 mg) is recommended to reduce the thrombotic risk of patients with essential thrombocytemia (ET). This practice is based on data extrapolated from other high-risk patients and an aspirin trial in polycythemia vera, with the assumption of similar aspirin pharmacodynamics in the two settings. However, the pharmacodynamics of low-dose aspirin is impaired in ET, reflecting accelerated renewal of platelet cyclooxygenase (COX)-1.

Italian Guidelines in Pemphigus - adapted from the European Dermatology Forum (EDF) and European Academy of Dermatology and Venerology (EADV).

Pemphigus is a life threatening autoimmune epidermal blistering disease involving skin and mucous membranes. Pemphigus usually affects middle age men and women involving oral mucosa first and then spreading on the skin. It is caused by the presence of autoantibodies (IgG and less frequently by IgA) directed against desmogleins, and/or other glycoproteins that plays a critical role in cell-cell attachment.

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.

Congenital dyserythropoietic anemias (CDAs) are rare hereditary blood disorders characterized by ineffective erythropoiesis, hemolysis, and erythroblast morphologic abnormalities in the bone marrow. The 3 main types of CDA, I to III, and variant types of CDA, IV-VIII, have been described. The causative genes have been identified as CDAN1, C15ORF41, SEC23B, KIF23, KLF1, and GATA1.

Intolerance to tyrosine kinase inhibitors in chronic myeloid leukemia: the possible role of ponatinib.

Introduction: In spite of the proven efficacy of the tyrosine kinase inhibitor (TKI), imatinib, in chronic myeloid leukemia (CML), many patients develop intolerance and discontinue therapy in the long-term. Second-generation TKIs (dasatinib, nilotinib, bosutinib) and the third-generation TKI, ponatinib, have added opportunities but also complexity in the settings of CML treatment.

Areas Covered: Different definitions of intolerance have been used through several clinical trials, making the published data non homogenous.

Miracle of haemophilia drugs: Personal views about a few main players.

Introduction: In the second decade of the third millennium there have been dramatic developments pertaining to the availability of highly innovative drugs for hemophilia care, notwithstanding a satisfactory previous scenario.

Aim: I am going to emphasize the role of 2 main categories of players: scientist physicians who produced important translational research and the pharmaceutical industry, who developed, produced and made commercially available so many improved treatment weapons stemming from the translational research of the forementioned scientist physicians.

Results: Pertaining to the role of scientist physicians, I chose to mention first those who were successful in the 1980 in the production of recombinant coagulation factors.

Disability, and not diabetes, is a strong predictor of mortality in oldest old patients hospitalized with pneumonia.

Background: Pneumonia causes more deaths than any other infectious disease, especially in older patients with multiple chronic diseases. Recent studies identified a low functional status as prognostic factor for mortality in elderly patients with pneumonia while contrasting data are available about the role of diabetes. The aim of this study was to evaluate the in-hospital, 3-month and 1-year mortality in elderly subjects affected by pneumonia enrolled in the RePoSi register.

Blunt bowel and mesenteric trauma: role of clinical signs along with CT findings in patients' management.

Background: Bowel and/or mesentery injuries represent the third most common injury among patients with blunt abdominal trauma. Delayed diagnosis increases morbidity and mortality. The aim of our study was to evaluate the role of clinical signs along with CT findings as predictors of early surgical repair.

Fifth Åland Island conference on von Willebrand disease.

The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016-90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926. This meeting brought together experts in the field of VWD to share knowledge and expertise on current trends and challenges in VWD. Topics included the storage and release of von Willebrand factor (VWF), epidemiology and diagnostics in VWD, treatment of VWD, angiogenesis and VWF inhibitors.

Ponatinib as second-line treatment in chronic phase chronic myeloid leukemia patients in real-life practice.

Scarce information is available on the use of ponatinib as second-line treatment in chronic phase chronic myeloid leukemia (CP-CML) patients resistant and/or intolerant to prior tyrosine kinase inhibitor (TKI) therapy. We collected data from 29 CML patients, with a median age of 54 years (range 32-72). Eleven patients had received dasatinib, 15 patients received nilotinib, and 3 patients received imatinib as first-line treatment.