Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Background: The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).

Objective: The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.

Multicenter Prospective Analysis of Hypertrophic Olivary Degeneration Following Infratentorial Stroke (HOD-IS): Evaluation of Disease Epidemiology, Clinical Presentation, and MR-Imaging Aspects.

Ischemic and hemorrhagic strokes in the brainstem and cerebellum with injury to the functional loop of the Guillain-Mollaret triangle (GMT) can trigger a series of events that result in secondary trans-synaptic neurodegeneration of the inferior olivary nucleus. In an unknown percentage of patients, this leads to a condition called hypertrophic olivary degeneration (HOD). Characteristic clinical symptoms of HOD progress slowly over months and consist of a rhythmic palatal tremor, vertical pendular nystagmus, and Holmes tremor of the upper limbs.

Diagnostic approach in multiple sclerosis with MRI: an update.

Although neurological examination and medical history are the first and most important steps towards the diagnosis of multiple sclerosis (MS), MRI has taken a prominent role in the diagnostic workflow especially since the implementation of McDonald criteria. However, before applying those on MR imaging features, other diseases must be excluded and MS should be favoured as the most likely diagnosis. For the prognosis the earliest possible and correct diagnosis of MS is crucial, since increasingly effective disease modifying therapies are available for the different forms of clinical manifestation and progression.

Comparing large pore lightweight mesh versus small pore heavyweight mesh in open mesh plug repair of primary and recurrent unilateral inguinal hernia - A questionnaire study for a retrospective analysis of a cohort of elective groin hernia patients using propensity score matching.

Purpose: For surgical treatment of inguinal hernia, large-pore, lightweight mesh has been shown to offer advantages over small-pore, heavyweight options in terms of chronic post-operative inguinal pain, but without the disadvantage of having to deal with an increased recurrence rate. Limited data are available for the mesh plug repair technique. Therefore, the primary aim of this study is to compare large-pore, lightweight mesh versus small-pore, heavyweight mesh for mesh plug repair with regard to chronic pain and recurrences in elective primary unilateral hernias.

Neuroradiological and clinical features in ophthalmoplegia.

Purpose: Especially in acute onset of ophthalmoplegia, efficient neuroradiological evaluation is necessary to assist differential diagnosis, clinical course, and treatment options.

Methods: Different manifestations of ophthalmoplegia are explained and illustrated by characteristic neuroradiological and clinical findings.

Results: To present those ophthalmoplegic disorders in a clear manner, this review refers to different neuroanatomical structures and compartments.

Voxel-wise deviations from healthy aging for the detection of region-specific atrophy.

The identification of pathological atrophy in MRI scans requires specialized training, which is scarce outside dedicated centers. We sought to investigate the clinical usefulness of computer-generated representations of local grey matter (GM) loss or increased volume of cerebral fluids (CSF) as normalized deviations (z-scores) from healthy aging to either aid human visual readings or directly detect pathological atrophy. Two experienced neuroradiologists rated atrophy in 30 patients with Alzheimer's disease (AD), 30 patients with frontotemporal dementia (FTD), 30 with dementia due to Lewy-body disease (LBD) and 30 healthy controls (HC) on a three-point scale in 10 anatomical regions as reference gold standard.

Magnetic Resonance Imaging and Clinical Features in Acute and Subacute Myelopathies.

Differential diagnosis of acute and subacute transverse myelopathy includes inflammatory, infectious, vascular, metabolic and paraneoplastic etiologies. Information on the diagnostic approach to transverse myelopathy with regard to daily clinical practice is provided. The differentiation between five lesion patterns on magnetic resonance imaging (MRI) in myelitis may be helpful: (1) longitudinal extensive transverse myelitis, (2) short segment ovoid or peripherally located, (3) "polio-like", (4) granulomatous and (5) segmental with rash.

Anaemia in the Elderly IBD Patient.

Anaemia is a common multifactorial extraintestinal manifestation in IBD patients. Moreover, anaemia represents an important health problem among the elderly population and has a significant impact on healthcare utilisation and costs. Data on the prevalence, diagnosis and management of anaemia in elderly IBD patients are scarce, since clinical trials have largely excluded this population.

Differential Diagnosis of Acute Myelopathies: An Update.

Appropriate description may lead to adequate diagnostic and therapeutic measures, and therefore, a simple scheme to categorize and term the imaging findings of acute myelopathy is suggested based on current literature. Assigning imaging findings to five groups, that is (a) "segmental with rash," (b) "poliolike," (c) "granulomatous-nodular," (d) "longitudinally extensive transverse myelitis," (e) "short-segment ovoid or peripherally located," provides a rationale to lessen differential diagnoses. The key for understanding, proper description and differential diagnosis is the correlation of two time points: When did the first symptoms appear and when did imaging take place? Early infarction within the first 24 h will show neither swelling nor enhancement.

Spinal cord ischemia: aetiology, clinical syndromes and imaging features.

Introduction: The purpose of this study was to analyse MR imaging features and lesion patterns as defined by compromised vascular territories, correlating them to different clinical syndromes and aetiological aspects.

Methods: In a 19.8-year period, clinical records and magnetic resonance imaging (MRI) features of 55 consecutive patients suffering from spinal cord ischemia were evaluated.

Coeliac Disease - New Pathophysiological Findings and Their Implications for Therapy.

Coeliac disease (CD) is one of the most common diseases worldwide, resulting from a combination of environmental (gluten) and genetic (human leucocyte antigen (HLA) and non-HLA genes) factors. Depending on the geographical location, the prevalence of CD has been estimated to approximate 0.5-1%.

Differential diagnosis of white matter lesions: Nonvascular causes-Part II.

The knowledge of characteristic lesion patterns is important in daily practice imaging, as the radiologist increasingly is required to provide precise differential diagnosis despite unspecific clinical symptoms like cognitive impairment and missed elaborated neurological workup. This part II dealing with nonvascular white matter changes of proven cause and diagnostic significance aimed to assist the evaluation of diseases exhibiting lesions exclusively or predominantly located in the white matter. The etiologies commented on are classified as follows: (a) toxic-metabolic, (b) leukodystrophies and mitochondriopathies, (c) infectious, (d) neoplastic, and (e) immune mediated.

Herbal hepatotoxicity by Greater Celandine (Chelidonium majus): causality assessment of 22 spontaneous reports.

Toxic liver injury due to the herb Greater Celandine (GC) (Chelidonium majus L.) has been assumed in patients originating from various European countries and created concern. Based on regulatory and liver unspecific ad hoc causality assessments in 22 spontaneous cases of Germany, causality levels for GC were considered probable in 16 and possible in 6 cases.

Kava hepatotoxicity in traditional and modern use: the presumed Pacific kava paradox hypothesis revisited.

Kava, a Pacific herb consumed worldwide for medicinal, recreational and cultural purposes, has been associated with rare hepatotoxicity, and there is currently a critical need to determine this causation. The previously proposed Pacific kava paradox was based on the theory that kava hepatotoxicity was not observed following use of traditional aqueous extracts in the Pacific region, but was restricted to use of Western acetonic and ethanolic extracts. Subsequent cases analyzed by the World Health Organization and published case reports revealed that traditional aqueous extracts used in New Caledonia, Australia, the USA and Germany may also be hepatotoxic; thus, there is no longer a basis to sustain the previously proposed Pacific kava paradox.

Proposal for a kava quality standardization code.

Rare cases of hepatotoxicity emerged with the use of kava drugs and dietary supplements prepared from rhizomes and roots of the South Pacific plant kava (Piper methysticum). Their psychoactive, anxiolytic, relaxing, and recreational ingredients are the kavalactones kavain, dihydrokavain, methysticin, dihydromethysticin, yangonin, and desmethoxyyangonin, but there is little evidence that these kavalactones or the non-kavalactones pipermethystine and flavokavain B are the culprits of the adverse hepatic reactions. It rather appears that poor quality of the kava material was responsible for the liver toxicity.

Spontaneous reports of assumed herbal hepatotoxicity by black cohosh: is the liver-unspecific Naranjo scale precise enough to ascertain causality?

Purpose: Causality assessment of cases with herbal hepatotoxicity represents a major regulatory challenge and included, in the past, the application of a diagnostic algorithm consisting of causality evaluation methods with either liver-specific or liver-unspecific characteristics. To evaluate various causality assessing methods in cases with suspected herbal hepatotoxicity, two different scales were now used for reasons of comparison.

Methods: We used the liver-specific scale of the updated Council for International Organizations of Medical Sciences (CIOMS) as well as the Naranjo scale that is not organ specific and therefore not liver specific.

Herb induced liver injury presumably caused by black cohosh: a survey of initially purported cases and herbal quality specifications.

Herb induced liver injury (HILI) is a particular challenge that also applies to purported cases presumably caused by black cohosh (BC), an herb commonly used to treat menopausal symptoms. We analyzed and reviewed all published case reports and spontaneous reports of initially alleged BC hepatotoxicity regarding quality of case details and causality assessments. Shortcomings of data quality were more evident in spontaneous reports of regulatory agencies compared to published case reports, but assessments with the scale of CIOMS (Council for the International Organizations of Sciences) or its updated version revealed lack of causality for BC in all cases.