Objective. To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS).Methods. Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked.Results. The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%).Conclusion. JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.Hippocrates first described hypermobile joints 2,400 years ago, but the condition of joint hypermobility was not described as a medical problem until 1967, by Kirk et al (1). Although many people have hypermobile joints, the general public as well as many physicians consider hypermobility to be a curiosity rather than a potentially serious medical problem (2,3). The prevalence of hypermobility is difficult to evaluate because it varies with age, sex, and ethnic background and because multiple criteria are being used. It is more frequent in female subjects and children, is more frequent in Asian than in black populations, and is more frequent in both Asian and black populations than in whites. It is generally agreed that it exists in ϳ10% of individuals in Western populations (4) and up to 25% in Iraqis (5). Most cases of joint hypermobility are pauciarticular rather than generalized, which makes the diagnosis more difficult. Because of this, many people are unaware of having lax joints (6). In spite of this laxity in the joints, most people with hypermobility do not experience joint or musculoskelet...
Joint hypermobility syndrome (JHS), also known as Ehlers-Danlos III, is an inherited disorder of connective tissue, characterised by an exceptional increase in the joint's mobility and the presence of musculoskeletal and other symptoms. It is a benign syndrome if compared with the other types of Ehlers-Danlos, but it can become disabling particularly because it is a significant source of pain and distress. The purpose of this work is to describe some common problems in JHS that render psychological intervention in their overall management relevant. Chronic pain, associated psychopathological factors such as anxiety, depression and somatosensory amplification, and problems arising from a lack of recognition and knowledge of the syndrome, are frequent among those affected, having a negative impact on their quality of life. We emphasise the relevance of addressing JHS from a biopsychosocial approach.
JHS is a frequent condition among young people evaluated. JHS is associated with psychological distress and higher levels of somatosensory amplification.
The frequency of individual genetic mutations conferring drug resistance (DR) to Mycobacterium tuberculosis has not been studied previously in Central America, the place of origin of many immigrants to the United States. The current gold standard for detecting multidrug-resistant tuberculosis (MDR-TB) is phenotypic drug susceptibility testing (DST), which is resource-intensive and slow, leading to increased MDR-TB transmission in the community. We evaluated multiplex allele-specific polymerase chain reaction (MAS-PCR) as a rapid molecular tool to detect MDR-TB in Panama. Based on DST, 67 MDR-TB and 31 drug-sensitive clinical isolates were identified and cultured from an archived collection. Primers were designed to target five mutation hotspots that confer resistance to the first-line drugs isoniazid and rifampin, and MAS-PCR was performed. Whole-genome sequencing confirmed DR mutations identified by MAS-PCR, and provided frequencies of genetic mutations. DNA sequencing revealed 70.1% of MDR strains to have point mutations at codon 315 of the katG gene, 19.4% within mabA-inhA promoter, and 98.5% at three hotspots within rpoB . MAS-PCR detected each of these mutations, yielding 82.8% sensitivity and 100% specificity for isoniazid resistance, and 98.4% sensitivity and 100% specificity for rifampin resistance relative to DST. The frequency of individual DR mutations among MDR strains in Panama parallels that of other TB-endemic countries. The performance of MAS-PCR suggests that it may be a relatively inexpensive and technically feasible method for rapid detection of MDR-TB in developing countries.
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