A boy presented at age 2.5 years with mild left ventricular hypertrophy and mi ld myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to dea th at age 16 years shortly before planned heart transplan...A boy presented at age 2.5 years with mild left ventricular hypertrophy and mi ld myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to dea th at age 16 years shortly before planned heart transplantation. During the cour se of the disease, his mother developed severe dilated cardiomyopathy and died o f its complications at 46 years of age. The combination of myopathy and cardiomy opathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree suggested Danon disease (MIM 300257), an X-linked lysosomal stora ge disorder caused by deficiency of lysosome associated membrane protein-2 (LAM P2). The diagnosis was confirmed by the identification of a novel mutation, G138 A, in the LAMP2gene, leading to the premature stop codon W46X. Conclusion:Early diagnosis of Danon disease is important for genetic counselling and timely cardi ac transplantation, the only effective therapeutic option.展开更多
Aim: To evaluate whether the age at body mass index (BMI)-rebound may be asso ciated with overweight at age 8 y in hyperphenylalaninaemic (HPA) children. Meth ods: A longitudinal observational study including 97 HPA c...Aim: To evaluate whether the age at body mass index (BMI)-rebound may be asso ciated with overweight at age 8 y in hyperphenylalaninaemic (HPA) children. Meth ods: A longitudinal observational study including 97 HPA children born 1984-199 3 and detected by the National Neonatal Screening programme. Children were follo wed up at the same institution and evaluated for dietary intakes and anthropomet rical parameters from diagnosis up to the age of 8 y. Outcome measure was overwe ight at age 8 y, defined according to the International Obesity Task Force. The age at BMI rebound, BMI before and at rebound were considered as potential deter minants. Familial overweight, breastfeeding and macronutrients intake at age 1 y were considered as confounders. Results: Mean (95%confi-dence interval [CI]) age at BMI rebound was 5.0 (4.7-5.3) y. At the age of 8 y, 24.7%(95%CI 16 .3-33.1%) of children was overweight. Children overweight at the age of 8 y exhibited earlier BMI rebound than non-overweight children (mean difference [95 %CI]-2.1 [-2.8 to-1.4] y) and higher BMI from the age of 1 y (mean differ ence [95%CI] 1.2 [0.9-2.5] kg/m2) onward. Overweight was more likely in chi ldren with, rather than without, parental overweight (41.0%vs 19.8%). After adjustment for confounders, logistic analysis showed that earlier BMI rebound (o dds ratio [OR] 2.4, 95%CI 1.2-4.8) and BMI at age 1 y (OR 2.3, 95%CI 1.1 -4.98) were independently associated with overweight at the age of 8 y. Conclu sion: Within the population of this study, overweight at age 8 y was positively associated with early BMI rebound and BMI at age 1 y.展开更多
文摘A boy presented at age 2.5 years with mild left ventricular hypertrophy and mi ld myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to dea th at age 16 years shortly before planned heart transplantation. During the cour se of the disease, his mother developed severe dilated cardiomyopathy and died o f its complications at 46 years of age. The combination of myopathy and cardiomy opathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree suggested Danon disease (MIM 300257), an X-linked lysosomal stora ge disorder caused by deficiency of lysosome associated membrane protein-2 (LAM P2). The diagnosis was confirmed by the identification of a novel mutation, G138 A, in the LAMP2gene, leading to the premature stop codon W46X. Conclusion:Early diagnosis of Danon disease is important for genetic counselling and timely cardi ac transplantation, the only effective therapeutic option.
文摘Aim: To evaluate whether the age at body mass index (BMI)-rebound may be asso ciated with overweight at age 8 y in hyperphenylalaninaemic (HPA) children. Meth ods: A longitudinal observational study including 97 HPA children born 1984-199 3 and detected by the National Neonatal Screening programme. Children were follo wed up at the same institution and evaluated for dietary intakes and anthropomet rical parameters from diagnosis up to the age of 8 y. Outcome measure was overwe ight at age 8 y, defined according to the International Obesity Task Force. The age at BMI rebound, BMI before and at rebound were considered as potential deter minants. Familial overweight, breastfeeding and macronutrients intake at age 1 y were considered as confounders. Results: Mean (95%confi-dence interval [CI]) age at BMI rebound was 5.0 (4.7-5.3) y. At the age of 8 y, 24.7%(95%CI 16 .3-33.1%) of children was overweight. Children overweight at the age of 8 y exhibited earlier BMI rebound than non-overweight children (mean difference [95 %CI]-2.1 [-2.8 to-1.4] y) and higher BMI from the age of 1 y (mean differ ence [95%CI] 1.2 [0.9-2.5] kg/m2) onward. Overweight was more likely in chi ldren with, rather than without, parental overweight (41.0%vs 19.8%). After adjustment for confounders, logistic analysis showed that earlier BMI rebound (o dds ratio [OR] 2.4, 95%CI 1.2-4.8) and BMI at age 1 y (OR 2.3, 95%CI 1.1 -4.98) were independently associated with overweight at the age of 8 y. Conclu sion: Within the population of this study, overweight at age 8 y was positively associated with early BMI rebound and BMI at age 1 y.
