Grain protein content and thousand kernel weight QTLs identified in a durum × wild emmer wheat mapping population tested in five environments.

Genetic dissection of GPC and TKW in tetraploid durum × WEW RIL population, based on high-density SNP genetic map, revealed 12 GPC QTLs and 11 TKW QTLs, with favorable alleles for 11 and 5 QTLs, respectively, derived from WEW. Wild emmer wheat (Triticum turgidum ssp. dicoccoides, WEW) was shown to exhibit high grain protein content (GPC) and therefore possess a great potential for improvement of cultivated wheat nutritional value.

Frequency and determinants for hemorrhagic transformation of cerebral infarction.

Background: Frequency and associated risk factors for hemorrhagic transformation (HT), a worrying complication of ischemic stroke (IS), are not clearly defined. Our aim was to estimate the overall frequency and risk factors for HT in a hospital-based population.

Methods: A retrospective review of medical records of patients discharged from our department during the period 2004-2006 with a diagnosis of anterior IS.

Blood levels of homocysteine, cysteine, glutathione, folic acid, and vitamin B12 in the acute phase of atherothrombotic stroke.

Blood levels of total homocysteine (tHcy), cysteine (Cys), total and reduced glutathione (tGSH and rGSH), folic acid (FA), and vitamin B12 (B12) change during ischemic stroke as accompaniment of the tissue damage. The relationship between these changes remains scantly investigated. We evaluated the variation of these molecules in the 48 h after acute large artery atherothrombotic stroke (LAAS) and searched for the presence of matched variation of them.

Motor intracortical inhibition in PD: L-DOPA modulation of high-frequency rTMS effects.

Dopaminergic drugs and deep brain stimulation restore cortical inhibition in Parkinson disease (PD) patients. High-frequency rTMS was also found to increase cortical inhibition in PD but its therapeutic effect is still controversial. Here we hypothesize that, if dopaminergic drugs reverse to normal cortical excitability in M1, the effect of high-frequency (hf)-rTMS in PD patients could depend on whether they are in a medicated or unmedicated state.

Headache in cerebrospinal fluid volume depletion syndrome: a case report.

Cerebrospinal fluid (CSF) volume depletion syndrome is due to leakage of cerebrospinal fluid through lesions of the dural sac at the level of the cranial base or of the spine. When past medical history is negative for recent trauma or surgery, the term spontaneous intracranial hypotension (SIH) is used. SIH is characterized clinically by orthostatic headache, neck pain, nausea, emesis, horizontal diplopia, tinnitus, plugged ear, hearing difficulties, blurring of vision, facial numbness, and upper limb radicular symptoms.

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.

Background: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP.

Objectives: We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis.

Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: a TMS study.

The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded.

The relapse rate of multiple sclerosis changes during pregnancy: a cohort study.

Objective: To evaluate the influence of pregnancy and puerperium on the relapse rate of multiple sclerosis (MS).

Methods: We determined retrospectively the yearly mean relapse rate (MRR) during pregnancies occurring in the course of relapsing-remitting MS. We compared the MRR of pregnancy-time with that of non-pregnancy time by paired t-test.

Pancreatic encephalopathy: a 7-year follow-up case report and review of the literature.

Pancreatic encephalopathy is a rare complication of acute pancreatitis. Clinical features include focal neurological signs and acute onset of dementia. This picture can fluctuate over time: cyclic progression with remission and relapses has been described.

Accuracy of death certificates for motor neuron disease and multiple sclerosis in the province of Palermo in southern Italy.

Mortality studies based on death certificates (DCs) are relatively inexpensive and easy to conduct. Therefore, they are frequently used to evaluate variations of geographical and temporal patterns, particularly in uncommon diseases. Recent surveys of motor neuron disease (MND) and multiple sclerosis (MS) based on official mortality statistics in Italy showed a decreasing trend of mortality from northern to southern Italy.

Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case.

We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature.

Brainstem auditory evoked potentials in patients with mitochondrial encephalomyopathy.

Brainstem auditory evoked potentials (BAEPs) were evaluated in three patients with mitochondrial encephalomyopathy belonging to the same family. This study showed marked alterations of BAEPs in all patients: reduction of wave amplitude, poor repeatability of responses in test-retest and abnormalities in wave form and latency. The neuroradiological examinations (CT-scan, MRI) did not show significant structural brain abnormalities.

Ocular pseudomyasthenia: report of a case with a pineal region tumor.

A case presenting with clinical features of ocular myasthenia and a false-positive edrophonium test is reported. Brain CT and MRI scan revealed a pineal region tumor histologically verified as germinoma. We recommend evaluating patients with clinical features of myasthenia gravis (MG) confined to the ocular muscles for intracranial mass lesions.

Peripheral neuropathy in the hypereosinophilic syndrome: a case report.

We observed a patient with the hypereosinophilic syndrome that showed as a prominent clinical feature peripheral nerve dysfunction. The neuropathy evolved over 4 months and affected sensory and motor functions. Nerve conduction studies and EMG were compatible with axonal neuropathy.

[Peripheral neuropathy during ocular myopathy: description of a case].

A case of ocular myopathy view presents only slight subjective symptoms, but a wide range of objective manifestations. The clinical features, but above all the morphological aspects of the muscle and the peripheral nerve presented by the patient, are briefly discussed, also in view of possible pathogenetic correlations.

[Alcoholic myopathy. Histochemical and ultrastructural study].

Muscles of alcoholic rats undergo histochemical and ultrastructural study. Significative alterations have not been found. The authors compare their experimental data with analogous human pathology, pointing out the possible biochemical and immunological differences.

[Paroxysmal phenomena in multiple sclerosis. Clinico-instrumental study of a case].

A case of MS with paroxysmal attacks of disarthria, ataxia and double vision is described. The changes in EEG pattern during the attacks, give the opportunity to debate on the pathophysiology of the phenomen.

[Epilepsy and pregnancy: preliminary studies].

The study concerns 17 clinical cases of epilepsy during the progress of 32 pregnancies. It is reported the frequency variations of epileptic fits, the eventual pharmacological adjustments and also some parameters of influence on the newborn. The result are briefly argued.