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共320条结果
  • 1.

    【2hr】Beneficial Effect of Oral Bisphosphonate Treatment on Bone Loss Induced byChronic Administration of Furosemide without Alteration of Its Administration and UrinaryCalcium Loss

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    机译 口服双膦酸盐治疗对由骨引起的骨丢失的有益作用呋塞米的长期给药，无需改变给药方式和尿液钙流失
    摘要：Bisphosphonate is widely used to treat patients with primary and secondary osteoporosis. The chronic administration of furosemide is considered a risk factor for osteoporosis mainly due to the increased urinary excretion of calcium, leading to a long-term negative balance of calcium. We describe two patients with mild heart failure who took furosemide for more than 5 yr and developed hyperparathyroidism and lumbago associated with low bone mineral density. Their serum levels of intact parathyroid hormone and bone mineral density (BMD) of the lumbar spine (L2-L4) were 180.8 and 144.3 pg/ml, and 71% and 80% of the mean of healthy women, respectively. The oral administration of alendronate or risedronate was effective for lumbago and improved BMD, although the urinary excretion of calcium and hyperparathyroidism were not changed. For the medical treatment of lumbago and decreased bone mass secondary to the long-term administration of furosemide, bisphosphonate is proposed when the dose of furosemide cannot be reduced. However, it may be important to give sufficient calcium and vitamin D to patients to improve secondary hyperparathyroidism.
  • 2.

    【2hr】Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes inDiagnosing Mixed Gonadal Dysgenesis

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    机译 外周血淋巴细胞G带核型分析的局限性诊断混合性腺发育不全
    摘要：Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with peripheral lymphocytes by the G-banding technique. It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype analysis were performed by peripheral lymphocytes fluorescence in situ hybridization (FISH), gonad fibroblasts FISH and gonad fibroblasts G-banding technique, in addition to the conventional peripheral lymphocytes G-banding technique. In Case 1, the percentage of the 45,X cell line in lymphocytes decreased after birth and detection of mosaicism could only be done by karyotype of gonads at 7 mo of age. In Case 2, FISH analysis with peripheral lymphocytes was more useful for detecting low frequency mosaicism. In all cases, phenotype of gonads and external genitalia were more consistent with karyotype of gonads than that of the peripheral lymphocytes G-banding technique. In conclusion, conventional G-banding karyotype analysis with peripheral lymphocytes has limitations in the diagnosis and evaluation of MGD. Karyotype analysis by FISH or by using gonads is useful for diagnosing MGD and understanding of the phenotype of gonadal tissue.
  • 3.

    【2hr】Clinical Evaluation of the Needle-free Injection System VISION®for Growth Hormone Therapy in Children

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    机译 无针注射系统VISION®的临床评估用于儿童生长激素治疗
    • 作者：Yutaka Igarashi
    • 刊名：Clinical Pediatric Endocrinology
    • 2006年第3期
    摘要：The aim of this study was to compare the therapeutic effects of rhGH administered either by subcutaneous needle-injection (pens) or subcutaneous needle-free jet-injection (VISION®). Furthermore, a survey was carried out after using VISION® for 12 mo. A needle-free injection group consisting of 18 subjects (11 males and 7 females, mean age 5.87 ± 2.05 yr at the start of hGH therapy) who have not used pen injectors to date, were allowed to use VISION® in their third to fifth years of GH therapy. In addition, a group of 8 subjects who had been using pen injectors at our clinic (6 males and 2 females, mean age 6.54 ± 2.78 at the start of GH therapy) was monitored as a control. The results indicate that there are no significant differences between the mean growth rates, growth rate SD scores or height SD scores when comparing injection devices. Furthermore, the survey of VISION® revealed that 70% of the subjects found it slightly or not painful at or after injection, 70% found VISION® very easy or easy to use, and 80% found the weight of the device appropriate. All subjects expressed a desire to continue using VISION® in the future. Our results suggest that there are no problems with the effectiveness of hGH treatment with VISION®, a needle-free jet-injection device and that VISION® is an effective device for children who have an aversion to needleinjection.
  • 4.

    【2hr】Leptin and Its Emerging Role in Children and Adolescents

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    机译 瘦素及其在儿童和青少年中的新兴作用
    摘要：Leptin is an adipocyte-secreted hormone which plays a key role in energy homeostasis. Recent “proof of concept” studies involving leptin administration to humans support its critical role in regulating energy homeostasis, neuroendocrine and immune function as well as insulin resistance in states of energy/ caloric deprivation. Moreover, interventional studies in leptin deficient children and observational studies in normal girls and boys support a role for leptin as a permissive factor for the initiation of puberty in children. The potential clinical usefulness of leptin in several disease states in children and adolescents, including hypothalamic amenorrhea, eating disorders and syndromes of insulin resistance is still under investigation.
  • 5.

    【2hr】No Improvement of Adult Height in Non-growth Hormone (GH) Deficient ShortChildren with GH Treatment

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    机译 非生长激素（GH）缺乏的成年人的身高没有改善儿童GH治疗
    摘要：It is still in doubt whether the standard-dose growth hormone (GH) used in Japan (0.5 IU/kg/week, 0.167 mg/kg/week) for growth hormone deficiency is effective for achieving significant adult height improvement in non-growth hormone deficient (non-GHD) short children. We compared the growth of GH-treated non-GHD short children with that of untreated short children to examine the effect of standard-dose GH treatment on non-GHD short children. GH treatment with recombinant human growth hormone (rhGH) was started before the age of 11 yr in 64 boys and 76 girls with non-GHD short stature registered at the Foundation for Growth Science who have now reached their adult height. In 119 untreated boys and 127 untreated girls whose height standard deviation score (SDS) was below –2 SD at the age of 6 yr, height growth was followed until 17 yr. Height SDS was significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in the untreated group, in both sexes. Adult height and adult height SDS were significantly greater in the untreated group than in the GH-treated group, in both sexes, although the change in height SDS did not differ significantly. Height SDS was significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in the untreated group, so 57 boys and 57 girls whose height SDS at the age of 6 yr in the untreated group closely matched the height SDS before GH treatment in the GH-treated group were chosen forcomparison. Height SDS did not differ significantly between the GH-treated group before GHtreatment and the untreated group at the age of 6 yr, nor were there differences betweenthese subgroups in adult height, adult height SDS, or height SDS change, in either sex.The effect of GH treatment is reported to be dose-dependent and doses over 0.23 mg/kg/weekare reported to be necessary to improve adult height in non-GHD short children. Currently,the GH dose is fixed at 0.175 mg/kg/week in Japan, and we expected to find, and indeedconcluded, that ordinary GH treatment in Japanese, non-GHD short children does not improveadult height.
  • 6.

    【2hr】A Spectrum of Clinical Presentations in Seven Japanese Patients with VitaminD Deficiency

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    机译 七名日本维生素患者的临床表现谱D缺乏症
    摘要：Recently, the reemergence of vitamin D deficiency in developed countries has been pointed out. Vitamin D deficiency is diagnosed based on the serum 25-hydroxyvitamin D (25OHD) level. However, its normal range is still controversial, making the diagnosis of vitamin D deficiency difficult. Here, we present seven Japanese patients diagnosed with vitamin D deficiency. Three patients complained of leg bowing, and the other four of tetany. The patients with leg bowing were toddlers. Radiographic surveys demonstrated evidence of rickets. Laboratory findings showed decreased levels of serum inorganic phosphorus and increased levels of alkaline phosphatase (ALP) and intact-parathyroid hormone (iPTH). The serum levels of 25OHD were relatively low, ranging from 13 to 15.2 ng/ml. Of the patients with tetany, three were young infants. Laboratory findings showed decreased levels of serum calcium and increased levels of ALP and iPTH. The serum levels of 25OHD were markedly decreased (below 8 ng/ml). Thus, these results indicate that relatively low levels of 25OHD can cause rickets, a symptom of vitamin D deficiency, and that clinicians should therefore carefully evaluate the levels of 25OHD.
  • 7.

    【2hr】Nutrient-enriched Diet in the Early Neonatal Period Influences the 3 year-oldHeight in Very Low Birth Weight Infants

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    机译 新生儿早期的营养丰富饮食会影响3岁的孩子极低出生体重婴儿的身高
    摘要：Nutrient-enriched milk has been advocated to enhance premature infants’growth and early nutritional intervention is effective for growth failure in very low birth weight infants (VLBWI). We studied the 3-yr-old physical growth of VLBWI who received nutrient enriched diets in the early neonatal period. VLBWI, who were born in 1996, received nutrient enriched milk around 1 mo of age. By contrast, in VLBWI born in 1998, nutrient enriched milk was started at 1–2 wk after birth. The daily calorie intake of VLBWI in 1998 had a tendency to be high compared to that of VLBWI in 1996. Height and body weight SD of 3-yr-old children who were born in 1998 tended to be greater than those of children who were born in 1996 (mean ± SD, –0.27 ± 0.54 vs. –1.01 ± 0.67; p=0.043, –0.47 ± 0.61 vs. –0.97 ± 1.10; p=0.31). Our study suggests that early feeding of nutrient-enriched milk for VLBWI in the neonatal period may affect their growth.
  • 8.

    【2hr】Three-Year Follow-up Study on Serum Leptin Levels in GH Deficient Childrenwith GH Replacement Therapy

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    机译 生长激素缺乏儿童血清瘦素水平的三年随访研究GH替代疗法
    摘要：Interactions between GH and leptin have been extensively studied. However, results of long-term GH therapy on serum leptin levels in GH-deficient children were not consistent. Moreover, no such reports were available in Japanese children with this disease. We studied 35 Japanese patients with GH deficiency (26 boys and 9 girls, mean age: 9.8 ± 6.2 yr old), of whom 6 patients with complete and 29 with incomplete GH deficiency were identified by GH provocation test. Serum leptin levels, percent of ideal body weight (%IBW) and percent fat (%fat) were determined at 0, 1, 3, 6, 12, 18, 24, and 36 mo after beginning GH therapy. Baseline levels of %fat and leptin were significantly higher in girls than boys (P<0.05), though serum leptin did not change throughout the study period in either group. Further, %IBW did not change significantly, whereas %fat exhibited significant changes after 6 mo in boys and remained virtually constant thereafter for up to 3 yr. In summary, serum leptin levels did not change in GH-deficient boys and girls during the 3-yr period after the start of GH replacement therapy, despite a decrease in %fat after 6 mo of therapy in the boys. Thus, it is conceivable that long-term GH replacement therapy can be employed without an effect on normal leptin secretion.
  • 9.

    【2hr】A Novel V2 Vasopressin Receptor Mutation with X-Linked Nephrogenic DiabetesInsipidus

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    机译 新型的V2加压素受体突变与X连锁的肾源性糖尿病。鹰嘴豆
    摘要：
  • 10.

    【2hr】Genetics of Human Growth

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    机译 人类成长的遗传学
    • 作者：Tsutomu Ogata
    • 刊名：Clinical Pediatric Endocrinology
    • 2006年第2期
    摘要：Genes involved in human growth consist of major growth genes and minor growth genes. Major growth genes have fundamental effects on human growth, and their mutations cause growth failure (or overgrowth) which are recognizable as single gene disorders. Minor growth genes exert relative minor additive effects on human growth, and their combination is involved in the development of short (or tall) stature as a multifactorial trait. This review summarizes the current knowledge about the major and the minor growth genes, and refers to the recent molecular approach of identification of the growth genes.
  • 11.

    【2hr】A Case Report of Turner Syndrome with Graves’ Disease during RecombinantHuman GH Therapy and Review of Literature

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    机译 重组期间患有格雷夫斯病的特纳综合征病例报告人体GH疗法与文献综述
    摘要：An increased incidence of Hashimoto thyroiditis has been reported in patients with Turner syndrome, but several cases of Graves’ disease were also described ten to 20 years ago. We report the case of a patient with Turner syndrome who developed Graves’ disease, 3 years after successful treatment with recombinant human growth hormone (GH). A diagnosis of Graves’ disease was made and treatment with thiamazole was started, which resulted in normalization of the thyroid function. It is important to monitor thyroid function as well as growth parameters in patients with Turner syndrome.
  • 12.

    【2hr】Prevalence of Mutations in the FGFR3 Gene in Individuals with IdiopathicShort Stature

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    机译 特发性个体FGFR3基因突变的患病率身材矮小
    摘要：FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopathic short stature. In this study, in order to test the possibility of the mildest end of hypochondroplasia being labeled as idiopathic short stature and the possibility of polymorphism of FGFR3 acting as one of the stature genes of normal individuals, we examined the prevalence of sequence alterations of the FGFR3 gene among individuals diagnosed clinically with idiopathic short stature. Sequencing analysis of all exons of the FGFR3 gene on 54 individuals with idiopathic short stature did not reveal any sequence variations related to the stature of the individuals. These results suggest that hidden hypochondroplasia among idiopathic short stature individuals is not a common occurrence and the contribution of polymorphism of the FGFR3 gene as a determinant of stature in normal individuals is small if any.
  • 13.

    【2hr】G-protein Stimulatory α Subunit Is Involved in OsteogenicActivity in Osteoblastic Cell Line SaOS-2 Cells

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    机译 G蛋白刺激α亚基参与成骨。在成骨细胞系SaOS-2细胞中的活性
    摘要：In an attempt to study the roles of G-protein stimulatory subunit α (Gsα) in osteoblasts, we introduced an expression vector encoding Gsα into human osteoblastic cell line SaOS-2, and established the clones stably overexpressing Gsα (SaOS-2-Gsα). In SaOS-2-Gsα, the intracellular content of cyclic AMP (cAMP) was increased compared with the parental SaOS-2 cells. In addition, when treated with PTH[1-34], SaOS-2-Gsα exhibited more accumulation of intracellular cAMP compared with the parental cells, suggesting an increased responsiveness to PTH. We evaluated the proliferation rates of SaOS-2-Gsα and the parental SaOS-2 cells, and found that the proliferation was accelerated in SaOS-2-Gsα cells. Reverse transcription-polymerase chain reaction (RT-PCR) analyses exhibited the increased expression of Runx2, a transcription factor involved in osteoblast differentiation, in SaOS-2-Gsα cells. Finally, to examine the osteoblastic function in vivo, we inoculated SaOS-2-Gsα or parental SaOS-2 cells subcutaneously to immunocompromised nude mice. Although tumors in nude mice were not formed after inoculation of parental SaOS-2 cells, SaOS-2-Gsα cells proliferated in host animals leading to the formation of tumors with mineralized bone-like tissues. Taken together, these results suggest that the signals via Gsα playcritical roles in the proliferation and osteogenic functions of osteoblasts.
  • 14.

    【2hr】Relatively Small Birth Size and Accelerated Early Growth of Japanese Type 1Diabetic Children with Younger Onset

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    机译 相对较小的出生面积和日本1型的早期生长加快糖尿病儿童发病较年轻
    摘要：We investigated the changes of anthropometrical parameters in Japanese children with type 1 diabetes (T1DM) from birth to the onset of diabetes. One-hundred ninety-nine children (79 males and 120 females) diagnosed between 0–16 yr of age during the period between 1990 and 2003 were the subjects of this study. The subjects were categorized into 3 groups according to onset age (0–5 yr; n=74, 5–10 yr; n=61, 10–16 yr; n=64). At birth, the younger onset (<5) group had significant lower height and weight standard deviation score (SDS) compared with the older onset (5≤) group (p=0.01 and p=0.02, respectively). When the changes in height SDS from birth to onset were compared, height SDS at onset were significantly greater than those at birth in the younger onset group (p<0.001). However, no significant difference was observed in the other groups (p=0.95 and p=0.39). These results suggest that relatively small size at birth and accelerated growth after birth until the onset of diabetes may be a characteristic of Japanese T1DM children with younger onset and may further support the hypothesis that emphasizes accelerated growth and subsequent insulin resistance as a cause of earlier onset of T1DM.
  • 15.

    【2hr】Treatment for Childhood Type 2 Diabetes

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    机译 儿童2型糖尿病的治疗
    • 作者：Tatsuhiko Urakami
    • 刊名：Clinical Pediatric Endocrinology
    • 2005年第1期
    摘要：Urine glucose screening at school implemented in Japan is useful for detecting childhood type 2 diabetes at the early stage of the disease. Most patients detected by the screening can improve hyperglycemia and reduce overweight within one to three months by changing lifestyle with diet and exercise. For patients who are unable to alter their lifestyle and for those who have hyperglycemia despite maintaining these changes, a variety of oral hypoglycemic agents, including α-glucosidase inhibitors, sulfonylureas, glitinides, metformin, thiazolidenediones, and insulin are available. Metformin is considered to be the most effective oral agent as monotherapy for Japanese young persons with type 2 diabetes, because most of them are obese with insulin resistance. The approach to insulin therapy in patients with type 2 diabetes often differs from that most frequently used in patients with type 1 diabetes. Adjustment of the dose of insulin at each injection using sliding scales or algorithms is not required in most cases. In some cases, combination therapy with metformin and sulfonylureas or use of insulin is more effective for stabilization of blood glucose values. Therapeutic means for childhood type 2 diabetes should be variable depending on each patient’s characteristics.
  • 16.

    【2hr】Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis andSHOX Haploinsufficiency

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    机译 Leri-Weill软骨发育不良和骨质疏松症患者的纵向观察SHOX单倍剂量不足
    摘要：Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth, skeletal deformity, and endocrine status were recorded longitudinally. She exhibited a constant growth rate (average + 6.2 cm/yr) from 6 to 9 yr old, followed by a downward shift at 10 yr old. Her final height was 135 cm (–4.4 SD for an adult female) and weight was 50.5 kg (–0.3 SD) at 12 yr and 10 mo old. Mesomelia and cubitus valgus were noticed from 2 yr old, and metaphyseal lucency and epiphyseal hypoplasia of the medial side of the distal radius were detected at 6 yr old. Madelung deformity was obvious at 10 yr old, when menarche occurred. Fluorescence in situ hybridization (FISH) analysis demonstrated a single copy of the SHOX gene. The short stature of the patient was thought to be exaggerated by the combination of SHOX haploinsufficiency and relatively early puberty.
  • 17.

    【2hr】Absence of Heterozygous K83E and R257X Mutations of the AIRE-1 Gene in 46Children with Type 1 Diabetes and 44 Children with Graves’ Disease

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    机译 46个AIRE-1基因的杂合子K83E和R257X突变的缺失1型糖尿病患儿和44例Graves病患儿
    摘要：Type 1 diabetes mellitus (DM) and Graves’ disease are autoimmune diseases, and a number of genetic factors, including HLA and CTLA-4 genes, have been reported to contribute to their etiology. The gene responsible for autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) has been cloned and named the autoimmune regulator-1 (AIRE-1) gene. AIRE-1 protein is thought to be a transcription regulatory protein and to have a role in the maintenance of immunological tolerance. The aim of this study was to determine whether heterozygous AIRE-1 gene mutations are associated with childhood-onset type 1 diabetes and Graves’ disease in the Japanese population. We investigated 46 children with type 1 DM (29 females and 17 males; age at the time of diagnosis, 0.5–16 yr) and 44 children with Graves’ disease (34 females and 10 males; age at the time of diagnosis, 3–16 yr) for the presence of the K83E mutation in exon 2 and the R257X mutation in exon 6 of the AIRE-1 gene. The alleles were identified by polymerase chain reaction of genomic DNA and restriction fragment-length polymorphism analysis (PCR-RFLP) with endonuclease TaqI. Since no patients with type 1 DM or Graves’ disease were found to carry the K83E or the R257X heterozygous mutation, we concluded that neither the K83E nor the R257X heterozygous mutation in the AIRE-1 gene seem tobe the cause of the more common isolated endocrinopathies, i.e., type 1 diabetes mellitusand Graves’ disease, in Japanese children.
  • 18.

    【2hr】Bilateral Asynchronous Adrenocortical Adenoma in a Girl withBeckwith-Wiedemann Syndrome

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    机译 一名女孩的双侧异步肾上腺皮质腺瘤Beckwith-Wiedemann综合征
    摘要：We report a case of asynchronous occurrence of bilateral adrenocortical adenoma in a 13-yr-old girl with Beckwith-Wiedemann syndrome. A right virilizing adrenal adenoma was surgically removed at age 6, following clinical manifestation of virilization such as acne, voice change, clitoris hypertrophy and overgrowth. Histopathological examination of the resected specimen revealed an adrenocortical adenoma predominantly composed of eosinophilic tumor cells expressing all the steroidogenic enzymes. High serum levels of DHEA-S (6,380 ng/ml) and testosterone (547 ng/dl) were noted prior to the operation. Postoperative course was unremarkable. Menstruation started at age 11, with a regular interval. At the age of 13 yr old, a high serum level of DHEA-S (8,250 ng/ml) was detected. In contrast to the episode of virilization at age 6, however, the serum testosterone level was not so high (122 ng/dl), and no clinical symptoms of virilization were apparent. Abdominal ultrasonography demonstrated the presence of a left adrenocortical adenoma. Pathological examination of the resected specimen revealed a circumscribed and well encapsulated tumor with essentially the same histological features as the tumor previously removed, except that the tumor cells showed a more prominent morphological similarity to the fetal adrenal cortex and did not express 3β HSD. The absence of virilization at the second episode was due tothe relatively low serum level of testosterone compared with that of DHEA-S.
  • 19.

    【2hr】A Novel Mutation of the Arginine Vasopressin Receptor 2 Gene in a Patientwith Congenital Nephrogenic Diabetes Insipidus

    包量

    机译 病人精氨酸加压素受体2基因的新型突变。先天性肾病性尿崩症
    摘要：We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in a case of congenital X-linked nephrogenic diabetes insipidus (NDI). The patient was a 2-mo-old Japanese boy with persistent fever and failure to thrive. He was diagnosed as having congenital NDI by clinical and laboratory findings. Molecular analysis demonstrated that he was hemizygous for a G to C transversion in exon 2 of the AVPR2 gene which resulted in a glycine to arginine substitution (G107R) at the 107th codon of the first extracellular loop. His mother was heterozygous for the same mutation. We speculated that the G107R mutation would interfere with the binding capacity of the AVPR2, since G107R is located near F105 and R106, both of which are crucial for ligand binding. In cases of X-linked NDI, mutations in the AVPR2 gene are distributed widely. Thus, DNA analysis throughout the gene is of clinical value for the identification of female carriers, and it also gives precise information for genetic counseling.
  • 20.

    【2hr】Cerebral Hemorrhage in Turner Syndrome: A Case Report

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    机译 特纳综合征脑出血1例
    摘要：We report the case of a 21-yr-old female with Turner syndrome associated with cerebral hemorrhage (CH). She was transferred to our hospital for loss of consciousness and was diagnosed with right putaminal hemorrhage. Following surgical removal of the hematoma, she regained consciousness, and her left hemiplegia gradually improved after surgery. Angiography revealed absence of vascular abnormality of the cerebral artery, aorta, and renal arteries. Hypertension was noted on arrival at the hospital and persisted after surgery. A slight hypertensive change was observed in her retinas. Plasma renin activity was elevated (20 ng/ml/h) and renovascular hypertension was suspected. In this patient, CH was suspected to have occurred due to hypertension. This case emphasizes the necessity to carefully monitor the blood pressure in Turner syndrome cases, even during childhood.
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