From 1997, plasma-derived C1-inhibitor concentrate (Cetor®) has been available to HAE and AAE patients. Recently, a virus reducing 15nm nanofiltration step has been introduced in the production process. A randomized, double-blind controlled cross-over study was performed to compare the pharmacokinetics (PK) of nanofiltered (C1-INH-NF) with conventional C1-inhibitor (C1-INH). Efficacy and ...

The mucus layer in the colon acting as a barrier to prevent invasion of pathogens, is thinner and discontinuous in patients with ulcerative colitis (UC). A recent developed in vitro dynamic gut model, the M-SHIME, was used to compare long-term colonization of the mucin layer by the microbiota from 6 ...

Background and purpose:  Creative drive and enhanced artistic-like production may emerge in patients with Parkinson's disease (PD) during dopaminergic therapy. However, it has not been described to date whether this artistic-like production results from dopaminergic drugs triggering innate skills or it could be considered as a repeated behavior possibly associated ...

Transcranial Doppler (TCD) ultrasonography to demonstrate cerebral circulatory arrest (CCA) is a confirmatory test for brain death (BD). The primary aim of this retrospective study was to evaluate the practical utility of TCD to confirm BD when clinical diagnosis was not feasible due to confounding factors. Secondary aims were to ...

OBJECTIVE: To evaluate the effect of two different laparoscopic methods on ovarian reserve as determined by antral follicle count (AFC) and ovarian volume in patients with bilateral endometriomas. DESIGN: Randomized prospective study. SETTING: Tertiary education and research hospital. PATIENT(S): Forty-eight patients with bilateral endometriomas. INTERVENTION(S): AFC and ovarian volumes determined ...

OBJECTIVE: To study the integrity of the FSH receptor (FSHR) signaling pathway in granulosa-lutein cells at the time of egg retrieval and its relationship with the infertility diagnosis. DESIGN: In vitro assays. SETTING: University laboratory and private IVF center. PATIENT(S): Patients undergoing IVF: 35 controls (no ovarian factor, NOF), 28 ...

Introduction: We aimed to identify the variables associated with ovarian hyperstimulation in Asian patients and compare them with western standards. Methods: This is a retrospective case record analysis of 79 patients with ovarian hyperstimulation at a tertiary restructured hospital. Results: Gonadotropin doses resulting in hyperstimulation did not vary between long ...

Lymphangioleiomyomatosis (LAM) is a rare, systemic disorder that predominantly affects women. Although patients with LAM mostly present with pulmonary symptoms, some patients may present initially with extrapulmonary symptoms. We present a case of a 30-year-old Japanese female with abdominal pain during menstrual periods was suspected of having ovarian cancer due ...

Previous studies have reported that patients with Parkinson's disease (PD) show, in the "off medication" state, a reduced activation of tibialis anterior (TA) in the late swing-early stance phase of the gait cycle. In PD patients the pathophysiological picture may cause differences among the stride cycles. Our aims were to ...

PURPOSE: To assess the relationship between ovarian morphology, hormonal levels and anthropometrical characteristics in a group of patients with polycystic ovary syndrome (PCOS). METHODS: This prospective, cross-sectional study included 82 patients with diagnosis of PCOS and 21 women with regular menstrual cycles without hyperandrogenism. They were submitted to endovaginal pelvic ...

Cerebral grey matter (GM) reduction has repeatedly been shown in anorexia nervosa (AN). Evidence concerning completeness of GM restitution in recovered patients is contradictory. Five long-term recovered patients with AN were compared to symptomatic subjects and healthy controls using voxel-based morphometry. Whole brain GM, white matter and cerebrospinal fluid fractions ...

Resting-state brain activity in neuromyelitis optica (NMO) patients can give clues to the pathophysiology of the disorder, and may be helpful in diagnosis; however, it has been less explored using functional MRI (fMRI). In the current study, we used a regional homogeneity (ReHo) method to investigate NMO-related modulations of neural ...

FVII Padua is a Type 2 defect owing to an Arg304Gln substitution in exon 8. The defect was originally discovered in an isolated valley in northeastern Italy. Subsequently, it was described in several other countries of the Mediterranean basin and Middle East. Recently, several proven or suspected cases have been ...

INTRODUCTION: Atrial tachycardia (AT) with cycle length alternans occurring after atrial fibrillation ablation has not been previously described. METHODS: Among 66 patients with left AT, stable AT with 2 alternating cycles was registered in 5 cases. Activation mapping of both alternating cycles was performed in all 5 patients. Entrainment and ...

Micrographia is a condition, in which the sufferers write with small handwriting. Hypophonia is described as low volume speech. Both conditions have been described in neurological conditions, such as lesions in the deep white matter of the brain, Parkinson's disease etc. In this case report, we are presenting a 22-years-old ...

Spina bifida cystica (SBC) is a group of neurodevelopmental defects caused by improper neural tube closure, which may be responsible for deficits in cognitive functions. The purpose of this study was to examine changes in normal appearing deep gray and white matter brain regions in SBC patients compared with controls ...

We reported the brain proton magnetic resonance spectroscopy (MRS) findings in 27 Wilson's disease (WD) patients treated more than 6 years in neurological (nWD) and hepatic (hWD) subgroups. We investigated 4 hWD patients, with no improvement and 8 with marked improvement; and 8 nWD patients with marked improvement and 7 with ...

To quantify total and regional brain damage in subjects with cerebrotendinous xanthomatosis (CTX) using MR based quantitative measures. CTX is a rare inherited disorder characterised by progressive neurological impairment. Appropriate therapy can slow disease progression. Measures of brain volume changes have been used in several neurological disorders due to their ...

We investigated whether conventional and diffusion tensor (DT) magnetic resonance imaging (MRI) features of the corticospinal tract (CST) contribute to the prediction of the long-term clinical evolution in patients with amyotrophic lateral sclerosis (ALS). Brain conventional and DT MRI were obtained from 18 healthy subjects and 24 patients with sporadic ...

In patients with neurofibromatosis type 1 (NF1), cognitive deficits are frequent manifestations. They are associated with focal areas of high signal intensity (T2H) on T₂-weighted MRI of the brain. Changes in T2H may affect cognitive development. Our study was to analyse the relations between the long-term development of T2H development ...

We examined white matter abnormalities in patients with a distinctive extrapyramidal syndrome due to intravenous methcathinone (ephedrone) abuse. We performed diffusion tensor imaging in 10 patients and 15 age-matched controls to assess white matter structure across the whole brain. Diffuse significant decreases in white matter fractional anisotropy, a diffusion tensor ...

The insulin tolerance test (ITT) is the gold standard for the diagnosis of GH deficiency (GHD) and hypocortisolism. As hypopituitarism is a common disorder after traumatic brain injury (TBI) and subarachnoid hemorrhage (SAH), the test is increasingly used in patients with pre-existing brain damage. A cross-sectional, observational study. Fifty-six patients ...

There is increasing evidence of white matter abnormalities in patients with obsessive-compulsive disorder (OCD). The results of previous diffusion tensor imaging (DTI) studies, however, are inconsistent. Reasons for this inconsistency may include methodological issues such as misregistration, the differences in smoothing voxel-based morphometry style analysis or both. To date there ...

One hundred and seven patients in vegetative state (VS) were evaluated neurologically and electrophysiologically over 3 months (90 days) after the onset of brain injury. Among these patients, 21 were treated with deep brain stimulation (DBS). The stimulation sites were the mesencephalic reticular formation (two patients) and centromedian-parafascicularis nucleus complex ...

Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to ...

Moyamoya disease is one of the causes of higher brain dysfunction in younger patients. Fortunately, it may be possible to protect younger Moyamoya disease patients from brain dysfunction via surgical manoeuvres. Our group retrospectively analysed the correlation between preoperative positron emission tomography data and the intelligence quotient scores of 60 ...

Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid α-glucosidase enzyme (GAA) and caused by mutations in the GAA gene. Infantile-type Pompe disease is a multiorgan disorder presenting with cardiomyopathy, hypotonia, and muscular weakness, which is usually fatal. Enzyme replacement therapy (ERT) with recombinant human ...

To illustrate ultrasound (US) and power Doppler US (PDUS) aspects of neurogenic heterotopic ossification (NHO) in consecutive patients with severe acquired brain injury, to evaluate the role of bedside US and PDUS in early diagnosis of NHO, to study incidence and outcome of NHO in this neurorehabilitative setting. Ninety-two consecutive ...

Amnestic mild cognitive impairment (aMCI) patients are thought to be particularly vulnerable to convert to clinical AD where functional disconnection is a major feature of the cortical neuropathology. However, the presence and extent of whole-brain connectivity disturbances is largely unknown in aMCI patients. Twenty-six aMCI patients and eighteen matched healthy ...

There have been several reports about disruption of the blood-spinal cord barrier (BSCB) and blood-brain barrier (BBB) in SOD1 mutant mice. Pathologically, microbleeds and hemosiderine deposits were found. We investigated patients with ALS for the occurrence of cerebral microbleeds with 7 Tesla MRI. Twelve patients with ALS and 12 age- ...

OBJECT: The aim of this prospective observational study was to assess the incidence and pattern of hypopituitarism after diffuse axonal injury (DAI) and to identify its effect on these patients in terms of functional outcome. METHODS: Of 1307 patients with traumatic brain injury treated at the authors' institution between March ...

We reported the brain proton magnetic resonance spectroscopy (MRS) findings in 27 Wilson's disease (WD) patients treated more than 6 years in neurological (nWD) and hepatic (hWD) subgroups. We investigated four hWD patients, with no improvement and eight with marked improvement; and eight nWD patients with marked improvement and seven with ...

OBJECTIVE: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) has recently been the standard surgical treatment for Parkinson's disease. Besides appropriate selection of patients, precise STN targeting is the most crucial factor for good surgical outcomes. However, there is no single targeting method universally accepted as the most accurate ...

OBJECT: Authors of several studies have implied a key role of glutamate, an excitatory amino acid, in the pathophysiology of traumatic brain injury (TBI). However, the place of glutamate measurement in clinical practice and its impact on the management of TBI has yet to be elucidated. The authors' objective in ...

We investigated whether patients with transient ischemic attack (TIA) have metabolic changes in the brain. 35 patients with clinically diagnosed TIA were prospectively included in our study. Clinical and neurological data were compiled. 1H-MR spectroscopy and perfusion-weighted imaging were performed in all patients within 3 days of the onset of ...

Multiparametric brain monitoring probes now make it possible to measure cerebral physiology. This prospective clinical study was designed to evaluate the pathophysiological environment of tumoural and peritumoural tissue O(2), CO(2), pH, HCO(3)- and temperature of awake patients with glioblastoma. A Neurotrend multiparametric sensor was placed using intraoperative image guidance into ...

Mild traumatic brain injury (mTBI) can induce long-term behavioral and cognitive disorders. Although the exact origin of these mTBI-related disorders is not known, they may be the consequence of diffuse axonal injury (DAI). Here, we investigated whether MRI at the subacute stage can detect lesions that are associated with poor ...

Background: Bullous pemphigoid (BP) is an acquired autoimmune dermatosis that is often associated with various neurological diseases (ND) in the elderly. Previously, we reported that BP antigen 1 (BPAG1) of the mouse brain can be recognized by serum samples of BP patients with ND (BP+ND), indicating the possibility that BPAG1 ...

The vertical-horizontal illusion is a robust phenomenon of length mis-estimation between two orthogonal lines. This illusion involves an anisotropy component that makes the vertical line appear longer than the horizontal one and a bisection component that makes the bisected line shorter than the bisecting one. Six patients presenting a moderate ...

The thalamus is known to play a key role in arousal regulation and support of human consciousness. Neuropathological studies have identified thalamic damage as one of the most common abnormalities present in the brains of patients who were in a vegetative state (VS) or a minimally-conscious state (MCS) state at ...

In this study, we wished to test, using magnetic resonance imaging and voxel-based morphometry (VBM), whether specific cortical and subcortical patterns of brain grey (GM) and white matter (WM) tissue loss can be detected in patients with Richardson's syndrome (PSP-RS) and progressive supranuclear palsy-parkinsonism (PSP-P), and possibly account for their ...

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A prospective brain MRI study was performed on 18 early-onset CMT patients with MFN2 mutations, and a high frequency (39%) of brain abnormalities was found. Early-onset ...

Traumatic cervical artery dissection (TCAD) is a relative infrequent complication of traumatic brain injury (TBI). Since TCAD is associated with morbidity in a considerable percentage of patients, it is important to obtain clues for recognising TCAD in this category of patients. Retrospective case-cohort study in severe TBI patients. Five patients ...

BACKGROUND AND PURPOSE: Reduced cerebrovascular reactivity (CVR) with steal phenomenon is an independent predictor for stroke and may indicate tissue exposed to episodic low-grade ischemia. The apparent diffusion coefficient (ADC) calculated using diffusion-weighted MRI is effective in characterizing focal brain ischemia and subtle structural changes in normal-appearing white matter (WM). ...

Aim of this review is to highlight how and when Traumatic Brain Injury (TBI) as well as Subarachnoid Haemorrhage (SAH) and primary Brain Tumours (pBT) of the Central Nervous System (CNS) can induce hypopituitarism, an under-diagnosed clinical problem. Moreover, this review aims to clarify, on the basis of the recent ...

BACKGROUND: Deep-brain stimulation is the surgical procedure of choice for patients with advanced Parkinson's disease. The globus pallidus interna and the subthalamic nucleus are accepted targets for this procedure. We compared 24-month outcomes for patients who had undergone bilateral stimulation of the globus pallidus interna (pallidal stimulation) or subthalamic nucleus ...

OBJECTIVE: To evaluate the effect of the treatment modality guided by intraventricular intracranial pressure (ICP) monitoring on patients with severe traumatic brain injury (TBI). METHODS: The clinical data of a group of 136 severely brain-injured patients admitted to Shanghai Neurosurgical Emergency Center from December 2004 to February 2006 were studied. ...

Dystonia is a movement disorder notoriously difficult to treat. While primary dystonia is classically considered to respond well to deep brain stimulation (DBS), treatment of secondary dystonia yields variable results. Patient selection should be done on a case-by-case basis. Clearly, there is a need to accumulate additional information with regard ...

BACKGROUND: Acupuncture has become one of the most popular alternative medicines in the world today. Some acupuncturists still intentionally embed entire needles deep in the tissue for treatments, and some patients stick needles into their own bodies on their own. CASE DESCRIPTION: Surgical removal of an accidentally broken acupuncture needle ...

OBJECTIVE: Fibromyalgia (FM) has been defined as a systemic disorder that is clinically characterized by pain, cognitive deficit, and the presence of associated psychopathology, all of which are suggestive of a primary brain dysfunction. This study was undertaken to identify the nature of this cerebral dysfunction by assessing the brain ...