POLR3A-related spastic ataxia: new mutations and a look into the phenotype

Journal of Neurology - Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in...     

Motor-evoked potentials in amyotrophic lateral sclerosis: potential implications in detecting subclinical UMN involvement in lower motor neuron phenotype

Journal of Neurology - In amyotrophic lateral sclerosis (ALS), the involvement of lower motor neuron is well defined by electromyography, whereas a reliable marker of upper motor neuron (UMN)...     

Prevalence and risk factors of silent brain infarcts in patients with AF detected by 3T-MRI

Journal of Neurology - Silent brain infarcts (SBI), a finding on neuroimaging, are associated with higher risk of future stroke. Atrial Fibrillation (AF) has been previously identified as a cause...     

Comparison between X-ray-hysterosalpingography and 3 Tesla magnetic resonance-hysterosalpingography in the assessment of the tubal patency in the cause of female infertility

Objectives

XR-hysterosalpingography currently represents the gold standard for tubal pathology evaluation. Magnetic resonance-HSG is an innovative technique. With our study, we aim to comprehend if and how MR-HSG, compared to traditional XR-HSG, could give us this additional information in the diagnostic/therapeutic process.

Materials and methods

This study included 19 patients between 30 and 42 years old (average age 37.7) affected by infertility. Patients underwent contextually both XR-HSG and MR-HSG, using a single catheterization. The dynamic MR-HSG exam consisted a MR sequence during contrast administration through the cervical catheter.

Results

Both XR-HSG and MR-HSG documented that 15 of the 19 patients had bilateral tubal patency, while four patients had monolateral tubal patency. However, MR-HSG allowed us to diagnose additional findings:

• Two active endometriosis foci in adnexal localization and a condition of adenomyosis

• A unicornuate uterus malformation

• A submucous uterine myoma near the tubal ostium

• A decrease of the ovarian reserve in a patient

So MR-HSG could potentially detect in 10/19 (52%) women the cause of their infertility, compared to 4/19 (21%) detected with XR-HSG and about 30% of women would have resulted as false negatives if we only used XR-HSG.

Finally, with a questionnaire, we demonstrated that MR-HSG is less painful than XR-HSG.

Conclusions

These data thus confirm that XR-HSG and MR-HSG present the same diagnostic of assessing tubal patency. We also demonstrated that MR-HSG is able to detect further collateral findings that could likewise be a possible therapeutic target and it could possibly become the new gold standard in female infertility diagnostics.

     

Twelve tips for implementing a community of practice for faculty development

Abstract

Teaching and learning practices often fail to incorporate new concepts in the ever-evolving field of medical education. Although medical education research provides new insights into curricular development, learners’ engagement, assessment methods, professional development, interprofessional education, and so forth, faculty members often struggle to modernize their teaching practices. Communities of practice (CoP) for faculty development offer an effective and sustainable approach for knowledge management and implementation of best practices. A successful CoP creates and shares knowledge in the context of a specific practice toward the development of expertise. CoPs’ collaborative nature, based on the co-creation of practical solutions to daily problems, aligns well with the goals of applying best practices in health professions education and training new faculty members. In our article, we share 12 tips for implementing a community of practice for faculty development. The tips were based on a comprehensive literature review and the authors’ experiences.     

Bullous Melanoma: should the thickness of the bullous lesion be included in Breslow depth measurement?

Bullous melanoma represents a rare variant of melanoma, especially in patients without underlying bullous cutaneous disease. Few cases have been described in the literature, including cases of melanoma in patients with bullous epidermolysis or Hailey-Hailey disease. The histopathological diagnosis of bullous melanoma does not show any difficulties, except for the measurement of the Breslow index. The rarity of this case, the dilemma of how to measure the Breslow index and the importance of an early diagnosis motivated this report.     

Caliber-persistent labial artery: report of 3 cases

The caliber-persistent labial artery is a vascular anomaly in which a primary arterial branch penetrates into the submucosal tissue without reduction in diameter. Most lesions are benign and do not require treatment, except for complications and/or on patient demands. In this way, noninvasive diagnostic tools are preferred such as high-resolution and color Doppler ultrasonography which allow direct observation of the lesion, assessing its exact location and diameter at every axis, as well as the blood flow velocity. An excisional biopsy of these lesions or even their surgical extirpation could have a fatal outcome with profuse bleeding.     

Adverse effects of cannabinoids

Cannabidiol is a cannabinoid‐derived product that has recently been approved for the treatment of pharmacoresistant seizures in patients with epileptic encephalopathies such as Dravet Syndrome and Lennox‐Gastaut Syndrome. Short‐term side effects of cannabidiol are well know and well‐documented in the clinical trials that lead to its approval. Generally, is a well tolerated drug with transitory, dose‐dependent mild to moderate effects like somnolence, decreased appetite or diarrhoea. However severe life‐threatening reactions can also occur, and are often related to the non‐controlled toxic combination with other antiseizure drugs that are widely used in this type of patients like sodium valproate or clobazam. In this brief review we summarize the available data about the short‐term adverse events of cannabidiol. Further studies are required to assess the long‐term outcome and final resolution of these conditions regarding safety of these patients.     

Absence of Neuronal Autoantibodies in Neuropsychiatric Systemic Lupus Erythematosus

This study aimed to characterise both neuronal autoantibodies and levels of interferon α, two proposed causative agents in neuropsychiatric systemic lupus erythematosus (NPSLE). Cerebrospinal fluid (CSF) and plasma from 35 patients with systemic lupus erythematosus (SLE; 15 with NPSLE) showed no antibodies against natively expressed N-methyl-D-aspartate receptors (NMDARs), or the surface of live hippocampal neurons. By comparison to controls (n = 104), patients with SLE had antibodies that bound to a peptide representing the extracellular domain of NMDARs (p < 0.0001), however, binding was retained against both rearranged peptides and no peptide (r = 0.85 and r = 0.79, respectively, p < 0.0001). In summary, neuronal-surface reactive antibodies were not detected in NPSLE. Further, while interferon α levels were higher in SLE (p < 0.0001), they lacked specificity for NPSLE. Our findings mandate a search for novel biomarkers in this condition. ANN NEUROL 2020;88:1244–1250