By use of a microlymphocytotoxic assay to detect 32 HLA antigens of the A and B series, we examined 49 Mexican-American adults with acute rheumatic fever and contrasted the findings with 100 ethnically identical controls. Eighty-nine percent of the total possible antigens were identified. Strong associations between HLA antigens from either locus and acute rheumatic fever were not detected. These findings serve to emphasize the importance of nongenetic factors in the pathogenesis of acute rheumatic fever and help clarify the role of HLA antigens in rheumatic diseases.
Arthritis resulting from metastatic carcinoma involving juxtaarticular bone or synovial tissue is a poorly recognized and rarely reported occurrence. It has received only brief mention in the current standard tests of rheumatology (1,2). Consequently, when it occurs, it usually presents a diagnostic dilemma leading to unfortunate delays and errors in medical management.We present here an unusual case of the heretofore unreported occurrence of sternoclavicular arthritis as the presenting manifestation of metastatic carcinoma. The pertinent literature is reviewed, and the clinical characteristics of this form of arthritis are discussed.Case Report. In December 1977, a 69-year-old Mexican-American man presented to the Bexar County Hospital emergency room with a 3-week history of painful swelling of the right sternoclavicular joint. An anteroposterior radiograph of the right clavicle and sternoclavicular joint revealed only soft tissue swelling without bony abnormalities; however, a small infiltrate was noted in the apex of the right lung associated with pleural thickening. Because of this finding, he was admitted for further evaluation.He had an 80-pack a year smoking history but 1979.Submitted for publication June 14, 1979; accepted July 31, denied chronic cough or hemoptysis. There was no history of fever, chills, night sweats, weight loss, or exposure to tuberculosis. The sternoclavicular symptoms were first noted 3 weeks prior to admission and had gradually become more severe. There was no history of trauma associated with the onset of the joint pain. No other arthritic complaints were elicited. The patient had been hospitalized in 1971 for medical problems associated with chronic alcoholism, including Wernicke's syndrome, Korsakoff s psychosis, peripheral neuropathy, muscle atrophy, and hepatic cirrhosis.On examination the patient appeared chronically ill and debilitated with clinical features of an organic brain syndrome. His vital signs and cardiorespiratory findings were normal. The liver was slightly enlarged but nontender. No lymphadenopathy or prostatic nodules were present. Prominent clubbing of the fingers was noted, but other manifestations of hypertrophic pulmonary osteoarthropathy were not apparent. Overlying the right sternoclavicular joint was a 3 x 4 cm area of swelling which was mildly erythematous, warm, and tender to palpation. There were no other signs of arthritis.Laboratory studies revealed a hematocrit of 42% and a leukocyte count of 5,100/mm3 with a normal differential. The alkaline phosphatase was moderately elevated at 196 units/liter (normal, 35-125 units/liter) and a Westergren erythrocyte sedimentation rate was 30 =/hour. Normal values were obtained for serum electrolytes, urea nitrogen, glucose, bilirubin, creatinine, SGOT, LDH, and urinalysis.Tomography of the right lung revealed multiple thick and thin-walled cavitary lesions involving the greater portion of the right apex associated with irregular pleural thickening. Sputum cytology was negative; however, fluorochrome smears for...
The frequencies of 32 HLA antigens of the A and B series were determined in a previously unstudied population of Mexican-Americans in South Texas. The phenotype and gene frequencies for this group are presented and are contrasted with those determined in studies of Mexican/Mexican--American populations from two different locales. The statistically significant differences observed emphasize the need for indigenous controls when evaluating racially heterogeneous populations for disease-associated HLA antigens.
Rorb encodes the Retinoic Acid Receptor-related orphan receptor beta. Mutations in either of the two transcripts of Rorb cause defects in multiple systems, including abnormal photoreceptor abundance and morphology in the retina and a characteristic high-stepper or duck-like gait arising from dysfunction of interneurons in the spinal cord. Rorb is also important for cortical development and cell fate specification in mice. Rorb variants segregate with epilepsy and comorbidities such as intellectual disability in numerous clinical cases. Here we describe five mouse strains with spontaneous mutations in Rorb identified by their gait phenotype. These mutations affect different domains and isoforms of Rorb, which correspond to the spectrum of anatomical and physiological phenotypes exhibited by these mice. Gene set analysis in Rorb mutants implicates pathways associated with development and nervous system function, and differential gene expression analysis indicates changes in numerous genes related to epilepsy, bipolar disorder, and autism spectrum disorder (ASD). Many of these genes and their protein products are known to interact during synapse formation and neuronal activity. These findings further illuminate the role of Rorb in nervous system development, provide further evidence for an association between Rorb and several neurological conditions, and describe an allelic series of Rorb mutant mice that will be useful for dissecting thalamocortical afferent(TCA) development, neural cell fate determination, and as animal models exhibiting transcriptomic shifts in neurological conditions such as epilepsy, bipolar disorder, and ASD.
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