Spinal vascular lesions: anatomy, imaging techniques and treatment

Vascular lesions of the spinal cord are rare but potentially devastating conditions whose accurate recognition critically determines the clinical outcome. Several conditions lead to myelopathy due to either arterial ischemia, venous congestion or bleeding within the cord. The clinical presentation varies, according with the different aetiology and mechanism of damage

Recurrent Ischemic Stroke and Bleeding in Patients With Atrial Fibrillation Who Suffered an Acute Stroke While on Treatment With Nonvitamin K Antagonist Oral Anticoagulants: The RENO-EXTEND Study

Background: In patients with atrial fibrillation who suffered an ischemic stroke while on treatment with nonvitamin K antagonist oral anticoagulants, rates and determinants of recurrent ischemic events and major bleedings remain uncertain. Methods: This prospective multicenter observational study aimed to estimate the rates of ischemic and bleeding events and their determinants in the follow-up of consecutive patients with atrial fibrillation who suffered an acute cerebrovascular ischemic event while on nonvitamin K antagonist oral anticoagulant treatment. Afterwards, we compared the estimated risks of ischemic and bleeding events between the patients in whom anticoagulant therapy was changed to those who continued the original treatment. Results: After a mean follow-up time of 15.0±10.9 months, 192 out of 1240 patients (15.5%) had 207 ischemic or bleeding events corresponding to an annual rate of 13.4%. Among the events, 111 were ischemic strokes, 15 systemic embolisms, 24 intracranial bleedings, and 57 major extracranial bleedings. Predictive factors of recurrent ischemic events (strokes and systemic embolisms) included CHA2DS2-VASc score after the index event (odds ratio [OR], 1.2 [95% CI, 1.0–1.3] for each point increase; P=0.05) and hypertension (OR, 2.3 [95% CI, 1.0–5.1]; P=0.04). Predictive factors of bleeding events (intracranial and major extracranial bleedings) included age (OR, 1.1 [95% CI, 1.0–1.2] for each year increase; P=0.002), history of major bleeding (OR, 6.9 [95% CI, 3.4–14.2]; P=0.0001) and the concomitant administration of an antiplatelet agent (OR, 2.8 [95% CI, 1.4–5.5]; P=0.003). Rates of ischemic and bleeding events were no different in patients who changed or not changed the original nonvitamin K antagonist oral anticoagulants treatment (OR, 1.2 [95% CI, 0.8–1.7]). Conclusions: Patients suffering a stroke despite being on nonvitamin K antagonist oral anticoagulant therapy are at high risk of recurrent ischemic stroke and bleeding. In these patients, further research is needed to improve secondary prevention by investigating the mechanisms of recurrent ischemic stroke and bleeding

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

\ua9 2023, Springer Nature Limited. The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

\ua9 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply. Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

Correction to: s41531-023-00526-9 npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Homophobic bullying and preventive actions at school: from laws to gender studies in Italy

The evolution of thought relating to sexual orientation and the greater visibility of gay and lesbian people, at media level also, haven’t been efficient for the revisiting of homosexual rendering from public acceptance and for a cultural transformation. The violent events on young homosexual students urge to reflect on the need that trainers should introduce educational models capable of providing different models of gender identification, fighting the stereotype that tries to substitute the reality itself. The homophobic bullying is intended as a fight to safety and well-being of young students. A multi-disciplinary and network approach seems to be for health practitioners a valid starting point to develop adequate ser- vices and projects place to contain the school emergency. That contribution highlights the need to approach the homophobic bullying as a complicated factor, often by the tragic consequences, analyzing from a social, psycho-pedagogical and legislative points of view. This article is focused on the need for a cultural change, moving from a dichotomous and approval culture to another of compliance of differences especially since from an analysis conducted in Italy and from contributions collected, it urges a necessity to recall to involve the institutions and a statement of a clear and specific protection. In this view, in prevention projects towards homophobic bullying, practitioners may have the role of facilitator of dialogue and Exchange who involves all the players included in prevention projects at bullying including victims, perpetrators and bystanders, families, educational staff and institutions

Sensory axonal polyneuropathy in a patient with Systemic capillary leak syndrome (Clarkson disease): a case report.

Background: Systemic capillary leak syndrome, or Clarkson disease, is a very rare disease of unknown origin, first described in 1960 and reported overall in about 150 cases. It‘s characterized by unexplained episodic attacks of capillary leakage of plasma from the intravascular into the interstitial space, causing acute, recurrent episodes of hypotension, oedema and hypovolemia. Since its rarity, clinical features and comorbid conditions remain largely unclear. We describe the clinical case of a patient with a diagnosis of Systemic capillary leak syndrome, subsequently developing sensory axonal polyneuropathy. Case Report: The patient’s clinical history was unremarkable until the age of 48 years old, when he underwent a surgical procedure of duodenocephalopancreasectomy for a carcinoma of the ampulla of Vater, followed by 12 cycles of cisplatin and 5-Fluorouracil based chemotherapy, obtaining complete clinical remission. At the age of 57 years old, the patient started to develop quite sudden episodes characterized by generalized weakness, fatigue and abdominal pain, rapidly followed, over few hours, by severe arterial hypotension, oliguria, oedema of the face and lower limbs and weight gain, requiring hospitalization and symptomatic management; the episodes lasted about 2-3 days and were followed by massive oedema resorption, leading to polyuria and weight loss. Based on clinical history and laboratory findings of hemoconcentration and hypoalbuminemia during the episodes, in the absence of secondary causes of shock, the patient received a diagnosis of systemic capillary leak syndrome (Clarkson disease). Additionally, serum laboratory examinations revealed a monoclonal IgG gammopathy, without evidence of lymphoproliferative disorders. At the age of 62 the patient progressively started to complain of distal paresthesias/dysesthesias at both upper and lower limbs; neurological examination showed mild ataxic gait, positive Romberg sign, deep and superficial sensory dysfunction of all extremities and diffuse osteo-tendon hyporeflexia. Electroneurographic examination provided evidence of sensory axonal polyneuropathy. Cerebrospinal fluid analysis showed mild albumin-cytologic dissociation. The patient initially performed oral corticosteroid therapy for about two months, with mild benefit on sensory disturbances, but unchanged electroneurographic findings. Discussion: A case of sensory axonal polyneuropathy in a patient with Clarkson disease, IgG monoclonal gammopathy and previous chemotherapy for carcinoma of the ampulla of Vater is here reported. Although the pathophysiological mechanisms leading to sensory axonal neuropathy in this complex case remain unknown, the present report seems to expand the spectrum of clinical presentation and comorbidities of Clarkson disease