Long‐term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt–Jakob disease

An asymptomatic 74‐year‐old woman, on follow‐up for a carotid body tumor, showed magnetic resonance imaging (MRI) focal restricted diffusion confined to the left temporal and occipital cortices. Thirteen months later, diffusion‐weighted images revealed a bilateral cortical ribbon sign involving all lobes. After 1 month, the patient developed gait instability and cognitive decline rapidly evolving to severe dementia and death within 3 months. Prion protein gene sequence, molecular, and neuropathological studies confirmed the diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD) MM1 subtype. Here we show the kinetics of MRI changes and prion spreading in preclinical sCJD MM1. Ann Neurol 2016;80:629–632     

Efficacy of Haemate-P as prophylaxis of recurrent bleeding in a patient with type 2B von Willebrand's disease.

We report the case of a 58-year-old woman with type 2B von Willebrand's disease who received regular infusions of the factor VIII/von Willebrand factor concentrate Haemate-P (2000 IU every other day) for 4 months to prevent recurrent bleeding from a malignant esophageal ulcer. Prophylaxis with Haemate-P was shown to be safe and effective in this patient, thus enabling completion of radiochemotherapy.     

Cerebral amyloid load determination in a clinical setting: interpretation of amyloid biomarker discordances aided by tau and neurodegeneration measurements

Neurological Sciences - Alzheimer’s disease (AD) diagnosis can be hindered by amyloid biomarkers discordances. We aim to interpret discordances between amyloid positron emission tomography...     

Posterior reversible encephalopathy syndrome associated with Guillain-Barré syndrome: Case report and clinical management considerations

Around half of the patients with Guillain-Barré syndrome (GBS) present autonomic dysfunction requiring admission to intensive care unit in up to a quarter of patients. Treatment of GBS consists of plasma exchange (PE) and intravenous immunoglobulins (IVIG). Posterior reversible encephalopathy syndrome (PRES) consists in a reversible subcortical vasogenic brain edema caused by endothelial damage triggered by abrupt blood pressure changes. We report on a woman who presented with PRES in the course of GBS treated first with IVIG, and then with PE. The present report underlines the challenge that the clinicians face when these two rare syndromes concur. The literature is not helpful considering that both blood pressure fluctuations and IVIG are reported to be involved in the pathogenesis of PRES. In the present letter, both pathogenic mechanisms and clinical management considerations are discussed.     

“In-house” pharmacological management for computed tomography coronary angiography: heart rate reduction, timing and safety of different drugs used during patient preparation

We retrospectively evaluated the effect, timing and safety of different pharmacological strategies during 64-slice CT coronary angiography (CT-CA). From the institutional database of CT-CA we enrolled 560 consecutive patients with suspected coronary artery disease. The type of drug preparation (group 1 = no treatment; group 2 = oral metoprolol; group 3 = other; group 4?=?intravenous (IV) atenolol; group 5?=?IV atenolol + nitrates; NR = non-responders), timing, and adverse effects were recorded. Heart rate (HR) during different preparation phases was recorded. Four adverse effects were recorded, none of which was attributable to pharmacological treatment. In all groups, except group 1, the HR on arrival was significantly reduced by the pharmacological treatment (p?<?0.01). Group 4 showed the best (?16?±?8 bpm) HR reduction. There was no significant effect on HR due to nitrates (p?=?0.49), while a slight increase due to contrast material was noted (p?<?0.05). Average time required for preparation was 44?±?25 min. Groups 4 and 5 showed the most effective timing (8?±?9 min and 8?±?8 min, respectively; p?<?0.01). Pharmacological preparation in patients undergoing CT-CA is safe and effective. Best results in terms of HR reduction and fast preparation are obtained with IV administration of beta-blockers.     

Pathology of valved venous homografts used as right ventricle-to-pulmonary artery conduits in congenital heart disease surgery

Objectives

Although valved venous homografts (VVHs) are used for establishing right ventricle-to-pulmonary artery continuity in some complex heart defects, the tissue changes that occur in situ have not been described. We review the gross and microscopic changes observed in explanted VVH conduits and their effects on functionality.

Multiple myeloma involving the cavernous sinus: a report of 3 cases and response to bortezomib

Intracranial multiple myeloma is uncommon. Cavernous sinus involvement has rarely been reported, generally associated with treatment-refractory disease and poor outcome. We report clinical data and neuroradiologic findings of 3 patients with multiple myeloma and unilateral cavernous sinus involvement. At neuroradiology, this resulted from diffuse bone involvement as disease relapse (n=2) or focal dural disease (n=1) as the presenting sign. Interestingly, bortezomib treatment resulted in complete clinical resolution in 1 patient and partial clinical and significant magnetic resonance response in another, whereas in the literature, local radiation therapy has been reported as the only efficient treatment.     

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

Fetal intracranial hemorrhage (ICH) may result from a wide array of causes, either associated with maternal or fetal risk factors. In the last decade, monogenic causes of susceptibility to fetal ICH have been described, in particular in association with COL4A1 and COL4A2 genes. A peculiar form of ICH is acute necrotizing encephalitis (ANE), which is characterized by a rapid-onset severe encephalopathy following an abnormal inflammatory response to an otherwise banal infection. It usually affects healthy children and it is thought to be multifactorial, with a genetic predisposition. RANBP2 gene has been extensively associated with ANE susceptibility. We hereby present a unique case of a 42-year-old secundigravida with intrauterine fetal demise at 35 weeks of gestation. Trio-based whole-exome sequencing performed on both parents and fetal DNA showed a de novo likely pathogenic variant in the RANBP2 gene on 2q13. At the fetal autopsy, subtentorial hematoma and cerebral intraparenchymal hemorrhage were present. We speculate that this might be a new phenotypic presentation of RANBP2-associated disease. However, more similar fetal cases need to be reported in order to reinforce this hypothesis.     

Metabolic disorders induced by highly active antiretroviral therapy and their relationship with vascular remodeling of the brachial artery in a population of HIV-infected patients

Antiretroviral therapy has positively modified the natural history of HIV infection; but this treatment can induce metabolic abnormalities, including dyslipidemia, fat redistribution, high blood pressure, and insulin resistance. The metabolic syndrome, a clustering of the metabolic disorders, is frequently detected among HIV patients, especially those on antiretroviral treatment. All the arteries can modify their diameter in response to a chronic injury. This process, defined vascular remodeling, was demonstrated for the brachial artery. It is well known that the diameter of the brachial artery was correlated with the number of the elements of the metabolic syndrome and was associated with the severity of coronary artery disease. On this basis, we postulate that brachial arterial enlargement may be a process potentially correlated with the metabolic disorders induced by antiretroviral therapy. We tested this hypothesis in a large population of HIV-infected patients in which we measured brachial artery diameter, as an indicator of artery remodeling, by noninvasive, ultrasonographic technique. Our population consisted of 570 patients, with a mean age of 46.3 ± 7.1 years. All the patients were chronically treated with highly active antiretroviral therapy. Brachial artery diameter was correlated with insulin resistance, evaluated by the homeostasis model assessment of insulin resistance index (r = 0.18, P < .0001). There was a significant linear increase in brachial artery diameter as the number of components of the metabolic syndrome increased: brachial artery diameter for those with 0, 1, 2, 3, or + characteristics was 39.3 ± 7.2, 41.0 ± 6.8, 42.0 ± 7.3, and 43.8 ± 7.9 mm, respectively (P < .001 for trend). In multivariable logistic regression analysis, brachial artery diameter was independently correlated with the presence of metabolic syndrome. Our results are in line with the hypothesis that, among HIV-infected patients chronically treated with antiretroviral therapy, those with a larger brachial artery diameter are at high risk for metabolic disorders, including a more severe insulin resistance and the presence of metabolic syndrome.     

An association of Hutchinson-Gilford progeria and malignancy

Mutations in the LMNA gene encoding lamins A/C are responsible for a variety of disorders, commonly referred to as "laminopathies," including the segmental premature aging syndrome Hutchinson-Gilford progeria. We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation. These findings are discussed in light of recent data on the pathophysiological mechanisms underlying progeria and "physiological" aging in human, as well as previous data on other well-known segmental aging syndromes.