ABSTRACT
Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy, affecting 9% of women, and it is responsible for significant morbidity and occupational absence. Clinical assessment is used for initial diagnosis and nerve conduction (NC) studies are currently the principal test used to confirm the diagnosis. Sensitivity of NC studies is >85% and specificity is >95%. There is now good evidence that US can be used as an alternative to NC studies to diagnose CTS. US can assess the anatomy of the median nerve and also identify pathology of the surrounding structures that may compress the nerve. Median nerve enlargement (cross-sectional area ≥10 mm(2) at the level of the pisiform bone or tunnel inlet) is the most commonly used parameter to diagnose CTS on US, and sensitivity has been reported to be as high as 97.9% using this parameter. US may also be used to guide therapeutic corticosteroid injection into the carpal tunnel--thus avoiding median nerve injury--and to objectively monitor the response to treatment. There is now sufficient evidence to propose a new paradigm for the diagnosis of CTS that incorporates US. US is proposed as the initial diagnostic test in CTS based on similar sensitivity and specificity to NC studies but higher patient acceptability, lower cost and additional capability to assess carpal tunnel anatomy and guide injection.
Subject(s)
Carpal Tunnel Syndrome/diagnostic imaging , Carpal Tunnel Syndrome/diagnosis , Disease Management , Ultrasonography , Adrenal Cortex Hormones/administration & dosage , Adrenal Cortex Hormones/therapeutic use , Carpal Tunnel Syndrome/therapy , Humans , Injections , Mass Screening/methods , Median Nerve/diagnostic imaging , Median Nerve/physiopathology , Neural Conduction/physiology , Sensitivity and SpecificityABSTRACT
Episodic ataxias (EAs) are rare neurological channelopathies that are characterized by spells of imbalance and a lack of co-ordination. There are seven clinically recognized EAs and multiple isolated cases. Five disease-causing genes have been identified to date. We describe a novel form of autosomal dominant EA in a large three-generation Irish family. This form of EA presents in early childhood with periods of unsteadiness generalized weakness and slurred speech during an attack, which may be triggered by physical tiredness or stress. Linkage analysis undertaken in 13 related individuals identified a single disease locus (1p36.13-p34.3) with a LOD score of 3.29. Exome sequencing was performed. Following data analysis, which included presence/absence within the linkage peak, two candidate variants were identified. These are located in the HSPG2 and UBR4 genes. UBR4 is an ubiquitin ligase protein that is known to interact with calmodulin, a Ca(2+) protein, in the cytoplasm. It also co-localizes with ITPR1 a calcium release channel that is a major determinant of mammal co-ordination. Although UBR4 is not an ion channel gene, the potential for disrupted Ca(2+) control within neuronal cells highlights its potential for a role in this form of EA.
Subject(s)
Calmodulin-Binding Proteins/genetics , Cytoskeletal Proteins/genetics , Genetic Loci , Adolescent , Adult , Ataxia/diagnosis , Ataxia/genetics , Child , Child, Preschool , Chromosomes, Human, Pair 13 , Exome , Female , Humans , Inositol 1,4,5-Trisphosphate Receptors/genetics , Ireland , Lod Score , Male , Middle Aged , Mutation, Missense , Pedigree , Polymorphism, Single Nucleotide , Sequence Analysis, DNA , Ubiquitin-Protein Ligases , Young AdultABSTRACT
Primary human immunodeficiency virus type 1 (HIV-1) infection (acute retroviral syndrome) has been well characterized as a mononucleosis-like illness. Manifestations of HIV-1 infection such as pharyngitis, fever, morbilliform rash, myalgias, arthralgias, nausea, headache, emesis, and lymphadenopathy have been reported. Acute rhabdomyolysis has been reported as part of the acute retroviral syndrome on 11 different occasions. We report the case of a primary HIV-1 infection with acute rhabdomyolysis and review critically the other case reports.
