Psychological Development at 7 Years of Age in Children with Congenital Hypothyroidism: Timing and Dosage of Initial Treatment

ABSTRACT. Sixty of 68 consecutive patients detected during the first two years of the Swedish screening programme for congenital hypothyroidism were Griffiths tested at the age 6.5–7.5 years. The test quotients of the patients could not be distinguished from those of reference population. Replacement therapy with 8.7 ± 2.8 μg of l -thyroxine (mean±SD)/kg/d had been started at 15.0 ± 7.1 days of life. Furthermore, normal results on Griffiths tests were also found in 13 patients with delayed normalization of serum TSH, i.e. ≥ 19 mU/l at the age of six weeks, as well as in patients with retarded skeletal maturity and/or very low neonatal serum levels of thyroxine, i.e. < 18 nmol/l and tri-iodothyronine, i.e. <0.92 nmol/l. Our findings indicate that replacement dose of 6–11 μg l -thyroxine/kg/d is adequate and allows normal psychological development if treatment is started early.     

Rat Renal Mesenchymal Tumor as an Experimental Model for Human Congenital Mesoblastic Nephroma: II. Comparative Pathology

The morphological features of kidney neoplasms induced by ethylnitrosourea (ENU) with or without prior irradiation were examined with a view to comparing them with human renal tumors of childhood. The rat renal tumors consisted of poorly differentiated, highly mitotic mesenchymal cells frequently attempting to differentiate along fibroblastic and myofibroblastic lineages. Though the host renal tubules were frequently entrapped in these tumors, immature tubules and islands of epithelial cells occasionally were seen to form an integral part of the neoplasms. Rarely, adenomatous areas surrounded by mesenchymal proliferation were observed. None of the tumors had the blastemal component that is the hallmark of nephroblastoma. The rat mesenchymal tumors resembled the human congenital mesoblastic nephroma.     

Pharmacologically Active Levels of PGE-, in Neonates with Congenital Heart Disease

ABSTRACT. In general, prostanoids act as local mediators, not as circulating hormones. A specific exception to this rule is the infusion of prostaglandin E₁ in patients with ductus arteriosus-depend-ent pulmonary or systemic blood flow associated with congenital heart disease. We therefore measured prostaglandin E, plasma levels by gas chromatography-mass spectrometry during effective infusion of prostaglandin E₁ in 10 neonates. Prostaglandin E₁ plasma levels ranged from 22 to 530 (median 56) pg/ml in these patients. Since prostaglandin E₁ is not synthesized endogenously to any significant extent, these plasma concentrations constitute genuine circulating levels not confounded by the common problem of e vivo artifacts. If endogenous prostanoids (e.g. prostaglandin E₂) are suspected as circulating mediators, plasma levels detected by reliable methods ought to be in the same range as prostaglandin E₁ plasma levels in the present investigation.     

Early Pregnancy Varicella and Associated Congenital Anomalies

ABSTRACT. A case of congenital anomalies following varicella infection in the 8th week of gestation is described. Though the baby demonstrated a majority of the features characteristic of the congenital varicella syndrome and had positive immunofluorescent and ELISA tests for VZ specific antibodies, no vesicles or depigmented skin areas were seen.     

Robinow syndrome in two siblings from consanguineous parents

A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).     

Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome

A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and central diabetes insipidus. Other aspects of pituitary function were normal. We suggest that the ectrodactyly-ectodermal dysplasia-clefting syndrome can be associated with a variety of hypothalamo-pituitary dysfunctions, in addition to the already described isolated growth hormone deficiency.     

先天性巨结肠一氧化氮的组织化学观察

采用ＮＡＤＰＨ二磷酸酶组织化学方法，研究先天性巨结肠症ＮＡＮＣ抑制性神经系统。结果提示狭窄段肠管缺乏ＮＯＳ阳性神经丛，肌层内有散在神经纤维，有时可见到粗纤维或小神经干；正常结肠和巨结肠正常段富含阳性神经节细胞和神经纤维。提示ＮＯ与先天性巨结肠发病机理有关。     

64例先天性胆总管囊肿术后随访及中药治疗

１９７９～１９９２年共手术治疗先天性胆总管囊肿并随访６４例，男１９例，女４５例，年龄５天～１２岁，随访时间１０个月～１４年，平均４年３个月。未发现癌变患儿。经临床体检、血肝功能测定、血透明质酸测定、Ｂ超及ＧＩ检查，碱性磷酸酶增高６０例，透明质酸增高６例，钡剂返流７例，胆道积气２ｌ例，胆道蛔虫４例，胆道结石５例。发现囊肿切除肝管空肠Ｒｏｕｘ－Ｙ吻合加矩形瓣手术可预防返流的发生，且其术后并发症最少。根据患儿随访情况，采用中药“胆康１号”治疗各种并发症，总有效率达９５％。     

Low-dose versus high-dose oxytocin augmentation of labor — A randomized trial

OBJECTIVE: Our purpose was to compare the efficacy and safety of low-dose versus high-dose oxytocin regimens in the augmentation of labor.STUDY DESIGN: Three hundred ten term pregnancies requiring augmentation of labor underwent randomization to receive either a low-dose or high-dose oxytocin augmentation regimen. Maternal demographics, labor-delivery data, and neonatal outcome were compared.RESULTS: The hgih-dose oxytocin group had a significant lower cesarean section rate, regarless of parity (10.4% vs 25.7%. p < 0.001), with no differences in maternal complications and neonatal outcomes. The time needed to correct the labor abnormality as also significantly decreased (1.24 ± 1.4 hours vs 3.12 ± 1.6 hours, p < 0.001) in the high-dose group.CONCLUSIONS: The use of a high-dose oxytocin regimen benefits both nulliparous and multiparous women requiring labor augmentation by significantly lowering both the time necessary to correct the labor normality and the need for cesarean section.     

The presentation and management of the nasal glioma

Nasal gliomata are rare and experience in management is therefore not widespread. Clinical details of 5 children with nasal gliomata are presented. In each case the glioma was excised by an external approach without the need for craniotomy. These cases demonstrate the variability of presenting features and problems in management. They illustrate a relatively conservative surgical approach to treatment which we consider to be safe and effective. The characteristics of these unusual neural malformations are reviewed, and the management is discussed.