From Dizziness and Hearing Loss to Coma: A Case of Basilar Artery Occlusion.

Basilar artery (BA) occlusion is a rare and devastating cause of ischemic stroke. Presenting symptoms are frequently non-specific and include dizziness, vertigo, nausea, vomiting, headache, and, rarely, hypoacusis. Clinical history and appropriate neurological evaluation are essential for diagnosis.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis, A Diagnosis Not To Miss.

Unlabelled: Anti-N-methyl-D-aspartate receptor (Anti-NMDAR) encephalitis is a rare autoimmune disease, characterized by the presence of neuropsychiatric symptoms. It is sometimes mistaken for a psychiatric disorder and other times not considered in the differential diagnosis of an encephalitic process. Correct identification of this disease and prompt treatment are key for optimal recovery, which might take weeks to months.

Relapsing Kikuchi-Fujimoto Disease With Hemophagocytic Lymphohistiocytosis.

Kikuchi-Fujimoto disease is a rare, benign, and self-limited disease of uncertain etiology, affecting mostly young female patients. It usually manifests as posterior cervical lymphadenopathy and fever. Its diagnosis is based on typical histopathological changes after the exclusion of other diseases such as lupus, lymphoma, or infectious lymphadenitis.

An Acute Blue Finger: A Case of Achenbach's Syndrome.

Unlabelled: Achenbach's syndrome, also known as paroxysmal finger haematoma, is a rare condition that results in spontaneous bruising and pain in one or more fingers. Despite its benign and self-limiting course, the remarkable clinical presentation can suggest serious vascular and haematological disease leading to unnecessary referrals and invasive investigations. The authors present the case of a 60-year-old woman with an acute painful and bruised finger.

-associated Mucositis: A Recently Described Entity.

Unlabelled: (MP) is a common cause of respiratory infections and can be associated with extrapulmonary complications. MP mucositis has recently been described as a distinct endemic clinical entity called e-induced rash and mucositis (MIRM). The authors present the case of a 46-year-old man with atypical pneumonia associated with exuberant mucositis, conjunctival hyperaemia and positive serological assays for MP IgM.

IL10 low-frequency variants in Behçet's disease patients.

Aim: To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility.

Methods: To identify IL10 low-frequency variants, a discovery group of 50 Portuguese BD patients were Sanger-sequenced in a 7.

Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibility.

Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes.

Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behçet's disease.

Objective: Independent replication of the findings from genome-wide association studies (GWAS) remains the gold standard for results validation. Our aim was to test the association of Behçet's disease (BD) with the interleukin-10 gene (IL10) and the IL-23 receptor-IL-12 receptor β2 (IL23R-IL12RB2) locus, each of which has been previously identified as a risk factor for BD in 2 different GWAS.

Methods: Six haplotype-tagging single-nucleotide polymorphisms (SNPs) in IL10 and 42 in IL23R-IL12RB2 were genotyped in 973 Iranian patients with BD and 637 non-BD controls.

[Rheumatic manifestations and neoplasms].

Links between rheumatic manifestations and neoplasms are today an evidence. Certain syndromes have epidemiologic studies confirming strong association with malignancy, such as dermatomyositis and polymyositis, hyperthrophic osteoarthropathy and Lambert - Eaton myasthenic syndrome. These disorders may mimic idiopathic conditions, difficulting diagnosis.