TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients.

Background: Limited evidence suggests that variants in TNFRSF11A gene, encoding RANK, may contribute to systemic autoinflammatory disease (SAID).

Aim/methods: To estimate the prevalence of TNFRSF11A variants in a cohort of patients with SAIDs screened for 26 related genes and describe the disease phenotypic expression.

Results: A total of 12 out of 167 patients, 7 males, aged (median) 38 years at disease onset, yielded at least one TNFRSF11A rare variant.

Cerebrospinal Fluid Anti-Neuronal Autoantibodies in COVID-19-Associated Limbic Encephalitis with Acute Cerebellar Ataxia and Myoclonus Syndrome: Case Report and Literature Review.

Since the outbreak of coronavirus (COVID-19) in 2019, various rare movement disorders and cognitive changes have been recognized as potential neurological complications. The early treatment of some of these allows rapid recovery; therefore, we must diagnose these manifestations in a timely way. We describe the case of a 76-year-old man infected with severe acute respiratory syndrome coronavirus-2 who presented with confusion and hallucinations and was admitted to our hospital 14 days after the onset of symptoms.

Co-occurrence between hereditary angioedema and multiple sclerosis: Therapeutic management of both diseases with fingolimod.

Background: Hereditary angioedema (HAE) related to C1 esterase-inhibitor deficiency activates the classic complement pathway and results to edematous crises. Although HAE is usually associated with multiple immunoregulatory disorders, neurologic manifestations are rare.

Case Report: We report on the case study of a 33-year-old man diagnosed with HAE (SERPIN1G gene mutation) and multiple sclerosis (MS), followed up for at least 6 years.

IgG4-related autoimmune manifestations in Alemtuzumab-treated multiple sclerosis patients.

We aimed to determine whether Alemtuzumab-induced immune reconstitution affects immunoglobulin and complement levels in the serum of Relapsing-Remitting Multiple Sclerosis (RRMS) patients. IgG4-levels were increased 24-months after treatment initiation compared to baseline levels in twenty-nine patients. Alemtuzumab-treated patients with the highest IgG4-levels were more prone to thyroid-related autoimmune manifestations and specific autoimmune adverse events such as Crohn's disease, Graves' disease, and hemolytic anemia.

Clinico-radiologic features and therapeutic strategies in tumefactive demyelination: a retrospective analysis of 50 consecutive cases.

Aims: Our goal was to expand the spectrum of clinico-radiologic characteristics and the possible therapeutic choices in patients with tumefactive demyelinating lesions (TDLs).

Methods: A retrospective analysis of 50 patients with at least one TDL was performed at an academic neurology center (2008-2020).

Results: Our cohort comprised mostly women (33/50) with a mean age of 38 years at TDL onset.

Recurrent Fulminant Tumefactive Demyelination With Marburg-Like Features and Atypical Presentation: Therapeutic Dilemmas and Review of Literature.

Atypical forms of demyelinating diseases with tumor-like lesions and aggressive course represent a diagnostic and therapeutic challenge for neurologists. Herein, we describe a 50-year-old woman presenting with subacute onset of left hemiparesis, memory difficulties and headache. Brain MRI revealed a tumefactive right frontal-parietal lesion with perilesional edema, mass effect and homogenous post-contrast enhancement, along with other small atypical lesions in the white-matter.

Lentiform fork sign in a patient with systemic lupus erythematosus.

The "lentiform fork sign" is a rare MRI sign which affects the posterior limb of the internal capsule, the external capsule, and extends posteriorly to form a fork-like appearance. It has been reported exclusively in disorders with metabolic acidosis, such as uremic encephalopathy, mitochondrial disorders, methanol/ethylene glycol intoxication, etc. It is considered to represent vasogenic edema and is often reversible.

Greece reports prototype intervention with first peripherally inserted central catheter: case report and literature review.

Placement of peripherally inserted central catheters (PICCs), definitely offers a clear advantage over any other method regarding central venous catheterization. Its ultrasonographic orientation enhances significantly its accuracy, safety and efficacy, making this method extremely comfortable for the patient who can continue his or her therapy even in an outpatient basis. We present the first reported case of a PICCS insertion in Greece, which has been performed by a university-degree nurse.

Gabapentin monotherapy for the treatment of chemotherapy-induced neuropathic pain: a pilot study.

Objective: This study was conducted to investigate the efficacy and safety of gabapentin monotherapy in the management of chemotherapy-induced neuropathic pain.

Patients: Seventy-five cancer patients who had previously received chemotherapy, and had experienced at least one symptom of neuropathic pain were included in the intervention group. They received a fixed low-dose of gabapentin (800 mg/day).

Analgesic activity of high-dose intravenous calcitonin in cancer patients with bone metastases.

We undertook a prospective, nonrandomized study with the objective to evaluate the efficacy of salmon calcitonin (sCT) in controlling pain secondary to bone metastases. Our study population consisted of 45 cancer patients with bone metastases (26 men) with a mean age of 64 years (range, 48-70) who had completed chemotherapy, hormonal therapy and radiation therapy at least 30 days prior to enrollment in the study, and had intractable pain despite the use of common analgesics (acetaminophen, nonsteroidal anti-inflammatory agents, opioids) and bisphosphonates. The study medication was a 300-IU dose of sCT administered intravenously daily for 5 consecutive days and repeated every two weeks until no response was noticeable.

Decreased prevalence of mixed cryoglobulinemia in the HAART era among HIV-positive, HCV-negative patients.

There is an established association between human immunodeficiency virus (HIV) infection and mixed cryoglobulinemia, as demonstrated in studies mostly conducted before the introduction of highly active antiretroviral therapy (HAART). To assess the impact of the latter on the cryoglobulinemic status in patients with HIV infection, 133 consecutive, unselected HIV-positive patients, from which only 8 (6%) had co-infection with hepatitis C virus (HCV), were evaluated for the presence of cryoglobulins, according to whether they received or not antiretroviral therapy (ART). Patients shown to be cryoglobulin-positive in a previous study were assessed prospectively, after introducing HAART.

Intramedullary spinal cord metastases in a patient with small-cell lung cancer.

We present the case of a 60-year-old male smoker with gait disturbance, lower limb sensory disturbance, and urinary difficulties of subacute onset and progressive course. He had been diagnosed 10 months earlier with limited stage small-cell lung cancer, had received chemotherapy, thoracic radiotherapy, and prophylactic cranial irradiation, and was in remission on follow-up. Examination revealed bilateral pyramidal tract signs, a T9 sensory level, and loss of vibration and position sense in the lower limbs.

Effect of percutaneous endoscopic gastrostomy on gastro-esophageal reflux in mechanically-ventilated patients.

Aim: To investigate the effect of percutaneous endoscopic gastrostomy (PEG) on gastroesophageal reflux (GER) in mechanically-ventilated patients.

Methods: In a prospective, randomized, controlled study 36 patients with recurrent or persistent ventilator-associated pneumonia (VAP) and GER > 6% were divided into PEG group (n = 16) or non-PEG group (n = 20). Another 11 ventilated patients without reflux (GER < 3%) served as control group.