ABSTRACT
OBJECTIVE: To determine whether assessment of antibodies directed against citrullin provides additional value in the diagnosis of rheumatoid arthritis (RA) in general practice. DESIGN: Retrospective. METHODS: In a 6-month period in 2004 (May-December), all sera sent to our laboratory for assessment of rheumatoid factor (RF-IgM), were also analysed for the presence of antibodies directed against citrullinated fibrinogen (anti-citrullin). We analysed 691 sera sent in by general practitioners using a homemade assay. To determine the disease classification, general practitioners were asked to provide information pertaining to the American College of Rheumatology disease classification criteria. The response was 97.6%. For patients who were referred to a rheumatologist in the last 2 years (December 2004-December 2006), the diagnosis of the rheumatologist was also considered in the analysis. RESULTS: A total of 28 patients (4%) were diagnosed with rheumatoid arthritis. Only 25% of these patients were positive for anti-citrullin, and only 25% were positive for RF-IgM. These 2 groups only partially overlapped. The positive and negative predictive values of anti-citrullin were 36 and 96%, respectively. CONCLUSION: The presence of anti-citrullin provided no additional value compared to rheumatoid factor in classifying RA in a general practice population.
Subject(s)
Antibodies, Antinuclear/blood , Arthritis, Rheumatoid/diagnosis , Citrulline/immunology , Family Practice/methods , Arthritis, Rheumatoid/blood , Diagnosis, Differential , Family Practice/standards , Humans , Immunoglobulin M/immunology , Retrospective Studies , Rheumatoid Factor/blood , Sensitivity and SpecificityABSTRACT
OBJECTIVE: To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome. DESIGN: Case series. SETTING: Tertiary referral center. BACKGROUND: The NOG gene encodes the protein noggin, which has antagonist action in osteogenesis. Malformation of bones and joints may result from defects in noggin. Teunissen-Cremers syndrome is caused by mutations in the NOG gene. Two mutations in this gene were reported previously. The proximal symphalangism-hearing impairment syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, conductive hearing loss, and occasionally synostoses. METHODS: We examined nine affected members of three Dutch families. Reconstructive middle ear surgery was performed in five patients (nine ears), and we sequenced the NOG gene in these families. RESULTS: Affected members had conductive hearing impairment, hyperopia, and broad thumbs and first toes with brachytelephalangia. Surgery manifested stapes ankylosis with additional incudal fixation frequently in the fossa incudis. Air-bone gaps decreased to less than 10 dB in six ears. Genetic analysis revealed three new mutations in the NOG gene. CONCLUSION: The Teunissen-Cremers syndrome is an entity in its clinical presentation, distinct from other syndromes with proximal symphalangism and hearing impairment. So far, in five families with Teunissen-Cremers syndrome, four truncating mutations and one amino acid substitution were found in the NOG gene. The majority of other mutations found in this gene are missense mutations, which might result in some residual protein activity. Reconstructive middle ear surgery is an option for treatment.
Subject(s)
Abnormalities, Multiple/genetics , Ankylosis/genetics , Bone Morphogenetic Proteins/genetics , Hearing Loss, Conductive/genetics , Hyperopia/genetics , Stapes/abnormalities , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/surgery , Adolescent , Adult , Ankylosis/diagnosis , Ankylosis/surgery , Audiometry, Pure-Tone , Bone Conduction/genetics , Bone Conduction/physiology , Carrier Proteins , Cephalometry , Child , DNA Mutational Analysis , Facies , Female , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/genetics , Genotype , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/genetics , Hearing Loss, Conductive/diagnosis , Hearing Loss, Conductive/surgery , Humans , Hyperopia/diagnosis , Male , Middle Aged , Ossicular Prosthesis , Phenotype , Reflex, Acoustic/genetics , Reflex, Acoustic/physiology , Stapes Mobilization , Syndactyly/diagnosis , Syndactyly/genetics , Syndrome , Synostosis/diagnosis , Synostosis/genetics , Thumb/abnormalities , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE: To describe cochleovestibular aspects of superficial hemosiderosis of the central nervous system. BACKGROUND: Superficial hemosiderosis of the central nervous system is a rare disease in which cochleovestibular impairment, cerebellar ataxia, and myelopathy are the most frequent signs. Chronic recurrent subarachnoidal hemorrhage with bleeding into the cerebrospinal fluid is the cause of deposition of hemosiderin in leptomeningeal and subpial tissue, cranial nerves, and spinal cord. Removing the cause of bleeding can prevent irreversible damage to these structures. Because this is the only effective treatment, an early diagnosis is crucial. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENT: A 72-year-old woman with superficial hemosiderosis of the central nervous system that developed when she was age 39. METHODS: Neurologic and imaging diagnostic examinations and longitudinal evaluation of cochleovestibular features were performed. Neurosurgery was not performed. RESULTS: Progressive bilateral sensorineural hearing loss and severe vestibular hyporeflexia developed within 15 years, which can be attributed to lesions in the cochleovestibular system. Additional pathology of the central nervous system developed later. CONCLUSION: The patient demonstrated cochlear and vestibular findings that are typical of this pathologic condition. It is the first documented case with extensive serial audiometry used to precisely outline the degree of hearing deterioration during the course of the disease.
