Introduction. Ito hypomelanosis-type pigmentary mosaicism is characterized by congenital pigmentation disorders along Blaschko’ s lines. We report a case of Ito-type pigmentary mosaicism associated with a congenital ...Introduction. Ito hypomelanosis-type pigmentary mosaicism is characterized by congenital pigmentation disorders along Blaschko’ s lines. We report a case of Ito-type pigmentary mosaicism associated with a congenital growth hormone deficiency having revealed trisomy 20 mosaicism. Observation. A 4 year-old boy presented with congenital pigmentation disorders. His history was marked by: inter-uterine delayed growth of unknown etiology, a dysmorphic syndrome, psychomotor retardation with speech problems, right cryptorchidia and an isolated, idiopathic, congenital growth hormone deficiency that had been treated with recombinant somatropine since the age of three. The clinical examination revealed alternating hypo and hyper-pigmented maculae with linear distribution on the limbs and in “ twirls" on the trunk following Blaschko’ s lines. The blood karyotypewas normal, the karyotype on fibroblasts of hypopigmented skin revealed trisomy 20 mosaicism. Discussion. The occurrence of pigmentary mosaicism related to trisomy 20 mosaicism is exceptional. The combination of Ito hypomelanosis-type pigmentary mosaicism and delayed growth due to growth hormone deficiency has never been reported before. Our observation, unusual because of such an association, raises the question of the eventual existence of associated genes located on the chromosome 20 implied in the secretion of growth hormone and/or melanogenesis. It also underlines the interest of conducting cytogenic explorations on fibroblasts of damaged skin in the case of Ito-type pigmentary mosaicism, even if the blood karyotype is normal or in the absence of a patent phenotype abnormality.展开更多
AIM： To investigate the effect of long-lasting somatostatin analogue octreotide （Oct） injected into the third cerebral ventricle （TCV） on gastric acid secretion in rats. METHODS： TCVs were cannulated in male Wis...AIM： To investigate the effect of long-lasting somatostatin analogue octreotide （Oct） injected into the third cerebral ventricle （TCV） on gastric acid secretion in rats. METHODS： TCVs were cannulated in male Wistar rats anesthetized with sodium pentobarbital. One week later acute gastric lumen perfusion was carried out and gastric acid was continuously washed with 37℃ saline by a perfusion pump. Gastric perfusion samples were collected every 10 min and titrated by 0.01 moL/L NaOH to neutral. On the basis of subcutaneous （sc） injection of pentagastrin （G-5, 160 μg/kg）, Oct （0.025 μg, 0.05 μg, 0.1 μg, n=12 in each group） or vehicle （pyrogen-free physiological saline, n = 10） was injected into the TCV, Before and after the TCV injection, 1 h total acid output （TAO） was determined and experimental data were expressed in change rate （%） of TAO. RESULTS： Oct （0.025, 0.05 and 0.1 μg） injected into the TCV resulted in change rate of 1.56% （P〉0.05）, 20.21% （P〈 0.01） and 37.82% of TAO （P〈 0.001）, respectively. Moreover, comparison in change rate of TAO among these 3 doses showed P〈 0.05 between 0.025μg and 0.05 μg, P〈 0.01 between 0.025 μg and 0.ling, and P〈 0.05 between 0.05μg and 0.1 μg. However, sc injection of 0.05 μg Oct had no effect on G-5 stimulated gastric acid secretion. CONCLUSION： Octreotide injected into the third cerebral ventricle inhibits gastrin-induced gastric acid secretion in a dose-dependent manner.展开更多
文摘Introduction. Ito hypomelanosis-type pigmentary mosaicism is characterized by congenital pigmentation disorders along Blaschko’ s lines. We report a case of Ito-type pigmentary mosaicism associated with a congenital growth hormone deficiency having revealed trisomy 20 mosaicism. Observation. A 4 year-old boy presented with congenital pigmentation disorders. His history was marked by: inter-uterine delayed growth of unknown etiology, a dysmorphic syndrome, psychomotor retardation with speech problems, right cryptorchidia and an isolated, idiopathic, congenital growth hormone deficiency that had been treated with recombinant somatropine since the age of three. The clinical examination revealed alternating hypo and hyper-pigmented maculae with linear distribution on the limbs and in “ twirls" on the trunk following Blaschko’ s lines. The blood karyotypewas normal, the karyotype on fibroblasts of hypopigmented skin revealed trisomy 20 mosaicism. Discussion. The occurrence of pigmentary mosaicism related to trisomy 20 mosaicism is exceptional. The combination of Ito hypomelanosis-type pigmentary mosaicism and delayed growth due to growth hormone deficiency has never been reported before. Our observation, unusual because of such an association, raises the question of the eventual existence of associated genes located on the chromosome 20 implied in the secretion of growth hormone and/or melanogenesis. It also underlines the interest of conducting cytogenic explorations on fibroblasts of damaged skin in the case of Ito-type pigmentary mosaicism, even if the blood karyotype is normal or in the absence of a patent phenotype abnormality.
基金Supported by Returned Overseas Scholar Science Research Foundation of Ministry of Education of China, No.2005383
文摘AIM： To investigate the effect of long-lasting somatostatin analogue octreotide （Oct） injected into the third cerebral ventricle （TCV） on gastric acid secretion in rats. METHODS： TCVs were cannulated in male Wistar rats anesthetized with sodium pentobarbital. One week later acute gastric lumen perfusion was carried out and gastric acid was continuously washed with 37℃ saline by a perfusion pump. Gastric perfusion samples were collected every 10 min and titrated by 0.01 moL/L NaOH to neutral. On the basis of subcutaneous （sc） injection of pentagastrin （G-5, 160 μg/kg）, Oct （0.025 μg, 0.05 μg, 0.1 μg, n=12 in each group） or vehicle （pyrogen-free physiological saline, n = 10） was injected into the TCV, Before and after the TCV injection, 1 h total acid output （TAO） was determined and experimental data were expressed in change rate （%） of TAO. RESULTS： Oct （0.025, 0.05 and 0.1 μg） injected into the TCV resulted in change rate of 1.56% （P〉0.05）, 20.21% （P〈 0.01） and 37.82% of TAO （P〈 0.001）, respectively. Moreover, comparison in change rate of TAO among these 3 doses showed P〈 0.05 between 0.025μg and 0.05 μg, P〈 0.01 between 0.025 μg and 0.ling, and P〈 0.05 between 0.05μg and 0.1 μg. However, sc injection of 0.05 μg Oct had no effect on G-5 stimulated gastric acid secretion. CONCLUSION： Octreotide injected into the third cerebral ventricle inhibits gastrin-induced gastric acid secretion in a dose-dependent manner.
