Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,s...Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.展开更多
Objective To compare the difference in the clinical efficacy on the different frequency hearing damages for the patients with sudden deafness between the comprehensive therapy of electroacupuncture and western medicin...Objective To compare the difference in the clinical efficacy on the different frequency hearing damages for the patients with sudden deafness between the comprehensive therapy of electroacupuncture and western medicine and the simple western medicine comprehensive therapy. Methods Fifty-eight cases were randomized into an acupuncture plus medication group （28 cases, 32 damaged ears） and a western medicine group （30 cases, 34 damaged ears）. In the acupuncture plus medication group, the comprehensive therapy of electroacupuncture and western medicine was used. The main points were ěrmén （耳门 TE 21）, Tīnggōng （听宫 SI 19）, Tīnghuì （听会 GB 2）, Yìfēng （翳风 TE 17）, etc. The western medicine therapy was the comprehensive treatment with vasodilators, the medicines for promoting nerve function and releasing inner ear edema and hyperbaric oxygen. In the western medicine group, the western medicine comprehensive therapy was adopted. 10-day treatment made one session. Two sessions of treatment were required. In 1 or 2 sessions of treatment, the efficacy was observed, the electric audiometry was evaluated. Additionally, the blood routine and liver and kidney functions were detected. Results The total effective rate was 50.0% （16/32） in the acupuncture ＋ medication group and was 55.9% （19/34） in the western medicine group. The efficacies were similar between the two groups （P〉0.05）. In 1 and 2 sessions of treatment, at 250 Hz, 500 Hz and 1 kHz, the electric audiometry values in either group were recovered significantly as compared with those before treatment （all P〈0.01）. At 2 kHz, in 1 and 2 sessions of treatment, the improvements of the electric audiometry values were significant as compared with those before treatment in the acupuncture plus medication group separately （P〈0.05, P〈0.01）. At 4 kHz, the differences were not significant statistically before and after treatment in either group （all P〉0.05）. There were no abnormalities in the blood routine and liver and kidney function detections before and after treatment in either group. Conclusion Either the comprehensive therapy of electroacupuncture and western medicine or the simple western medicine comprehensive therapy is effective in the treatment of low frequency hearing damage of sudden deafness. Either of them has no effect on high frequency hearing damage. But for the middle frequency hearing damage, the efficacy of the comprehensive therapy of electroacupuncture and western medicine is superior to that of the simple western medicine comprehensive therapy.展开更多
基金Supported by Grant from the German Research Foundation (DFG) to MZ
文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
文摘Objective To compare the difference in the clinical efficacy on the different frequency hearing damages for the patients with sudden deafness between the comprehensive therapy of electroacupuncture and western medicine and the simple western medicine comprehensive therapy. Methods Fifty-eight cases were randomized into an acupuncture plus medication group （28 cases, 32 damaged ears） and a western medicine group （30 cases, 34 damaged ears）. In the acupuncture plus medication group, the comprehensive therapy of electroacupuncture and western medicine was used. The main points were ěrmén （耳门 TE 21）, Tīnggōng （听宫 SI 19）, Tīnghuì （听会 GB 2）, Yìfēng （翳风 TE 17）, etc. The western medicine therapy was the comprehensive treatment with vasodilators, the medicines for promoting nerve function and releasing inner ear edema and hyperbaric oxygen. In the western medicine group, the western medicine comprehensive therapy was adopted. 10-day treatment made one session. Two sessions of treatment were required. In 1 or 2 sessions of treatment, the efficacy was observed, the electric audiometry was evaluated. Additionally, the blood routine and liver and kidney functions were detected. Results The total effective rate was 50.0% （16/32） in the acupuncture ＋ medication group and was 55.9% （19/34） in the western medicine group. The efficacies were similar between the two groups （P〉0.05）. In 1 and 2 sessions of treatment, at 250 Hz, 500 Hz and 1 kHz, the electric audiometry values in either group were recovered significantly as compared with those before treatment （all P〈0.01）. At 2 kHz, in 1 and 2 sessions of treatment, the improvements of the electric audiometry values were significant as compared with those before treatment in the acupuncture plus medication group separately （P〈0.05, P〈0.01）. At 4 kHz, the differences were not significant statistically before and after treatment in either group （all P〉0.05）. There were no abnormalities in the blood routine and liver and kidney function detections before and after treatment in either group. Conclusion Either the comprehensive therapy of electroacupuncture and western medicine or the simple western medicine comprehensive therapy is effective in the treatment of low frequency hearing damage of sudden deafness. Either of them has no effect on high frequency hearing damage. But for the middle frequency hearing damage, the efficacy of the comprehensive therapy of electroacupuncture and western medicine is superior to that of the simple western medicine comprehensive therapy.
