Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene.

Cognitive impairment in obstructive sleep apnea syndrome: a descriptive review.

Purpose: Obstructive sleep apnea syndrome is a clinical sleep disorder defined by total or partial airflow restraint during sleep that results in fragmented sleep and hypoxemia, impacting negatively with cognitive functioning. This review was conducted on studies investigating structural brain alteration and cognitive impairment in obstructive sleep apnea syndrome.

Method: We searched on PubMed databases and screening references of included studies and review articles for additional citations.

Molecular analysis of the CYP21A2 gene in dried blood spot samples.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to a deficiency of enzymes involved in cortisol biosynthesis. In more than 90% of cases, CAH is secondary to deleterious mutations in the CYP21A2 gene leading to 21-hydroxilase deficiency (21OHD). The CYP21A2 gene is located on the short arm of chromosome 6 (6p21·3) and encodes the cytochrome P450C21 enzyme.

GPBAR1 Activation by C6-Substituted Hyodeoxycholane Analogues Protect against Colitis.

GPBAR1 agonists have been identified as potential leads for the treatment of diseases related to colon inflammation such as Crohn's and ulcerative colitis. In this paper, we report the discovery of a small library of hyodeoxycholane analogues, decorated at C-6 with different substituents, as potent and selective GPBAR1 agonists. pharmacological assays showed that compound selectively activates GPBAR1 (EC = 0.

The role of mind theory in patients affected by neurodegenerative disorders and impact on caregiver burden.

Background: Theory of Mind (ToM) is defined as the ability to understand mental and emotional state. This ability is assessed also in neurodegenerative disease. Few studies have investigated the impact that social cognition of patients could have on caregiver burden.

Factors related to cognitive reserve among caregivers of severe acquired brain injury.

Stroke is one of the severe cause of motor and cognitive disabilities. These type of disabilities occurred a strong impact on whole family system. Caregiver burden may determine in relatives of patients with brain injury a decreasement of mental and physical health.

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.

Background: Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system. They may result in intracranial haemorrhage, epileptic seizure(s), or focal neurological deficits, and potentially lead to severe disability. Globally, CCMs represent the second most common intracranial vascular malformation in humans, and their familial form (FCCMs) accounts for one-fifth of cases.

Extracorporeal versus intracorporeal anastomosis in laparoscopic right hemicolectomy for cancer.

Introduction: This study aimed at assessing the long-term oncological outcomes of intracorporeal ileocolic anastomosis (ICA) for laparoscopic right hemicolectomy for colon cancer compared with extracorporeal anastomosis (ECA).

Material And Methods: We performed a retrospective analysis of 149 consecutive patients who underwent laparoscopic right hemicolectomy for colon cancer between January 2006 and December 2012.

Results: Eighty and 69 patients underwent intracorporeal and ECA, respectively.

Chronic Kidney Disease Management in General Practice: A Focus on Inappropriate Drugs Prescriptions.

Nephrotoxic drugs prescriptions are often prescribed inappropriately by general practitioners (GPs), increasing the risk of chronic kidney disease (CKD). The aim of this study was to detect inappropriate prescriptions in patients with CKD and to identify their predictive factors. A retrospective study on patients with creatinine values recorded in the period 2014-2016 followed by 10 GPs was performed.

Quality of life in patients with multiple sclerosis and caregivers. Predictive factors: An observational study.

Purpose: Multiple sclerosis (MS) is a neurodegenerative and autoimmune disease, which can significantly affect not only the quality of life (QoL) of affected people but also that of their careers who care for them. The main objective of this study was to assess the extent to which the patient's clinical, cognitive and psychological conditions affect his or her QoL and that of the caregiver.

Methods: We examined a number of patients with clinically defined MS.

Brain morphologic abnormalities in migraine patients: an observational study.

Background: Migraine is a common neurological disorder characterized by a complex physiopathology. We assessed brain morphologic differences in migraine and the possible pathogenetic mechanism underlying this disease.

Methods: We analyzed brain morphologic images of migraine patients, 14 with aura (MwA) [the mean (SD) age was 42.

Severity of Topiramate-Related Working Memory Impairment Is Modulated by Plasma Concentration and Working Memory Capacity.

Drug side effects that impair cognition can lead to diminished quality of life and discontinuation of therapy. Topiramate is an antiepileptic drug that elicits cognitive deficits more frequently than other antiepileptic drugs, impairing multiple cognitive domains including language, attention, and memory. Although up to 40% of individuals taking topiramate may experience cognitive deficits, we are currently unable to predict which individuals will be most severely affected before administration.

JZL184, A Monoacylglycerol Lipase Inhibitor, Induces Bone Loss in a Multiple Myeloma Model of Immunocompetent Mice.

Multiple myeloma (MM) patients develop osteolysis characterised by excessive osteoclastic bone destruction and lack of osteoblast bone formation. Pharmacological manipulation of monoacylglycerol lipase (MAGL), an enzyme responsible for the degradation of the endocannabinoid 2-arachidonoyl glycerol (2-AG), reduced skeletal tumour burden and osteolysis associated with osteosarcoma and advanced breast and prostate cancers. MM and hematopoietic, immune and bone marrow cells express high levels of type 2 cannabinoid receptor and osteoblasts secrete 2-AG.

Search for polyoma-, herpes-, and bornaviruses in squirrels of the family Sciuridae.

Background: Squirrels (family Sciuridae) are globally distributed members of the order Rodentia with wildlife occurrence in indigenous and non-indigenous regions (as invasive species) and frequent presence in zoological gardens and other holdings. Multiple species introductions, strong inter-species competition as well as the recent discovery of a novel zoonotic bornavirus resulted in increased research interest on squirrel pathogens. Therefore we aimed to test a variety of squirrel species for representatives of three virus families.

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented.

Assessment of spinal cord stimulation and radiofrequency: Chronic pain and psychological impact.

Pain has a major impact on anxiety and depression levels. The aim of this study is to demonstrate how these symptoms (depression and anxiety) could positively influence the perception of pain after neurostimulation system implantation.We enrolled 100 patients and divided in 2 different groups, by using tests screening such as Beck Depression Inventory (BDI), Hamilton Anxiety Rating Scale (HAM-A), Nursing Rating Scale (NRS): the group with spinal cord stimulation (SCS) and the group with pulsed spinal cord radiofrequency (RFP).

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.

Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions.

The AHR pathway represses TGFβ-SMAD3 signalling and has a potent tumour suppressive role in SHH medulloblastoma.

Sonic Hedgehog (SHH) medulloblastomas are brain tumours that arise in the posterior fossa. Cancer-propagating cells (CPCs) provide a reservoir of cells capable of tumour regeneration and relapse post-treatment. Understanding and targeting the mechanisms by which CPCs are maintained and expanded in SHH medulloblastoma could present novel therapeutic opportunities.

Neuropsychological assessment and clinical evaluation in temporal lobe epilepsy with associated cortical dysplasia.

Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder, often associated to cognitive deficits. Focal cortical dysplasia (FCD), frequently associated to high risk of epilepsy, can lead to abnormalities in cognition. The aim of this study was to explore neuropsychological performance and to identify potential risk factors for cognitive impairment in TLE subjects with associated FCD.

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

Introduction: Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as for genetic diagnosis and possible gene therapy. The aim of this study is to characterize a pattern of the initial visual symptoms, which could help the pediatricians and the primary care providers to suspect an inherited retinal disorder in its early stage.

Quantitative assessment of Parkinsonian tremor by using biosensor device.

Parkinson disease (PD) is the second most common neurodegenerative disease which affects population older than 65 years. Tremor represents one of the main symptomatic triads in PD, particularly in rest state.We enrolled 41 idiopathic PD patients, to validate the assessment of tremor symptoms.

Role of visual P300 in cognitive assessment of subacute stroke patients: a longitudinal study.

The aim of this study was to assess if pre- and post- event related potentials (ERPs) components after visual stimulation training admitted differences exist in subacute stroke patients and to observe the outcome markers of cognitive functions recovery by using Neurowave system. Eighteen ischemic subacute stroke patients were enrolled and underwent to neuropsychological evaluation and ERPs recording at two time points, at baseline (T0) and after 3 months from (T1). All patients were stimulated with customized images for three days a week.

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Background: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release.