The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations....The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20%of the duplicated cases were sporadic. In 77%of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region. Forty-five percent of patients were females, 84%were Caucasians and 13%of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84%of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair-bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84%of the cases, but 80%were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. The findings of this study expand the clinical spectrum of the disease.展开更多
Objectives-The main objectives of this study were to assess whether the use of different definitions of irritable bowel syndrome(IBS) could influence measurements of its prevalence and characterize the patient populat...Objectives-The main objectives of this study were to assess whether the use of different definitions of irritable bowel syndrome(IBS) could influence measurements of its prevalence and characterize the patient population fulfilling these different diagnostic criteria. Method-A telephone survey was carried out by contacting 8,221 subjects aged ≥ 18 years representative of the French population. A “ screening” questionnaire based on three algorithms of IBS classification (Manning, with or without a notion of a minimal duration of symptoms, Rome I and Rome II) was used by specialised inquirers. Results-Twenty three percent of the subjects interviewed stated that they had suffered from abdominal pain during the previous 12 months.The prevalence of IBS considerably varied, depending on the diagnostic criteria used: 12% based on Manning criteria without reference to the duration of symptoms; 2.5% if the notion of duration of symptoms was added to the Manning criteria,and 2.1% and 1.1% based on the Rome I and Rome II criteria,respectively (the latter includin the same notion of duration). In total, 212 subjects (2.6% ) met at least one of the criteri a including a minimal duration of symptoms, with a predominance for women (sex-ratio close to 2). Conclusion-The prevalence of IBS is strongly dependent on the classification algorithm employed.The requirement of a minimum duration of symptoms eliminates IBS in a large number of subjects complaining of abdominal disorders. Once these methodological variations were taken into account, the prevalence of IBS in France was found to be comparable to that published in international literature.展开更多
文摘The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20%of the duplicated cases were sporadic. In 77%of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region. Forty-five percent of patients were females, 84%were Caucasians and 13%of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84%of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair-bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84%of the cases, but 80%were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. The findings of this study expand the clinical spectrum of the disease.
文摘Objectives-The main objectives of this study were to assess whether the use of different definitions of irritable bowel syndrome(IBS) could influence measurements of its prevalence and characterize the patient population fulfilling these different diagnostic criteria. Method-A telephone survey was carried out by contacting 8,221 subjects aged ≥ 18 years representative of the French population. A “ screening” questionnaire based on three algorithms of IBS classification (Manning, with or without a notion of a minimal duration of symptoms, Rome I and Rome II) was used by specialised inquirers. Results-Twenty three percent of the subjects interviewed stated that they had suffered from abdominal pain during the previous 12 months.The prevalence of IBS considerably varied, depending on the diagnostic criteria used: 12% based on Manning criteria without reference to the duration of symptoms; 2.5% if the notion of duration of symptoms was added to the Manning criteria,and 2.1% and 1.1% based on the Rome I and Rome II criteria,respectively (the latter includin the same notion of duration). In total, 212 subjects (2.6% ) met at least one of the criteri a including a minimal duration of symptoms, with a predominance for women (sex-ratio close to 2). Conclusion-The prevalence of IBS is strongly dependent on the classification algorithm employed.The requirement of a minimum duration of symptoms eliminates IBS in a large number of subjects complaining of abdominal disorders. Once these methodological variations were taken into account, the prevalence of IBS in France was found to be comparable to that published in international literature.
