先天性食管旁疝20例报告

为了回顾和评价先天性食管旁疝各种术式的治疗效果，总结近十余年中经手术治疗的食管旁疝２例。患儿男１５例，女５例，年龄３天～６．５岁。本组半数误诊为肺脓肿或其他疾病。治疗结果：２例行Ｂｅｌｓｅｙ术，均复发；１５例行Ｎｉｓｓｅｎ术，术后１例折叠过紧，１例并发回肠套叠，３例食管下段轻度狭窄，余１１例随访２～１０年，２例有折叠部分疝出；Ｔｈａｌ手术２例，近期效果好。由于该病易发生胃扭转或嵌顿，确诊后应立即手术。应注意防治Ｎｉｓｓｅｎ手术后发生折叠过紧及滑脱等并发症，Ｔｈａｌ术的近期疗效好。     

Endocrinological Abnormalities in Prader-Willi Syndrome

Ten patients with typical Prader-Willi syndrome were studied for their short stature, hypogonadism, and obesity. Tne following results were obtained.

• 1) GH secretion was variable, ranging from subnormal to normal, although all shared short stature in common.
• 2) Two of the 4 adolescent patients were diagnosed as having hypo-gonadotropic hypogonadism. The remainder disclosed normal response to LH-RH stimulation. Of the two patients with normal LH-RH stimulation test, one showed normal testosterone production.
• 3) In one child who developed overt diabetes, there remained elevated basal plasma insulin and depressed RBC-insulin binding, despite weight control. There appears to be a significant heterogeneity in endo crinological derangement of Prader-Willi syndrome.

     

MICROBIAL FLORA AND DISACCHARIDASE DEPRESSION IN INFANTILE GASTROENTERITIS

Abstract. Barnes, G. L., Bishop, R. F. and Townley, R. R. W. (Department of Gastroenterology, Royal Children's Hospital, Melbourne and Department of Paediatrics, University of Melbourne, Victoria, Australia). Microbial Flora and Disacharidase Depression in Infantile Gastroenteritis. Acta Paediatr Scand, 63: 423, 1974.–In infants with acute gastroenteritis, disaccharidase activity in duodenum is depressed in a majority of patients. There is a statistically significant association between abundant growth of Candida albicans in the duodenum and depression of lactase activity at the same level.     

Mineral homeostasis in very premature infants: serial evaluation of serum 25-hydroxyvitamin D, serum minerals, and bone mineralization

This study was designed to evaluate the role of vitamin D sufficiency, as reflected in serum 25-hydroxyvitamin D (25-OHD) concentrations, on serum minerals and bone mineralization in very premature infants. Seventy-two infants (mean +/- SD gestation 30.1 +/- 2.5 weeks, mean +/- SD birth weight 1178 +/- 278 gm) were observed serially for the first 3 months of life. Mean serum calcium and phosphorus values, but not magnesium, remained low prior to 12 weeks. The percentage of infants with moderate to severe hypomineralization was 75% at 3 weeks, 55% at 6 weeks, 54% at 9 weeks, and 15% at twelve weeks. Low serum calcium and phosphorus values, high alkaline phosphatase activity, and moderate-severe hypomineralization were more frequent in infants weighing less than 1000 gm and in those with lower mineral intake. With a 400 IU vitamin D supplement, 45% of infants could maintain an initially normal serum 25-OHD concentration or increase low concentrations, whereas 55% had falling or persistently low (less than or equal to 15 ng/ml) 25-OHD concentrations. Birth weight and mineral intakes were comparable in these two groups, yet the group with the lower serum 25-OHD concentration had lower serum calcium and higher alkaline phosphatase values, and a higher percentage of moderate to severe hypomineralization. Regardless of birth weight, mineral intake, or 25-OHD concentration, increases in serum calcium and phosphorus values and in mineralization were seen at postconception term (12 weeks in most infants, nine weeks in those weighing 1250 to 1600 gm). At 12 weeks of age, but not before, serum 25-OHD concentration was directly correlated with serum calcium (r = 0.47, P less than 0.01) and serum phosphorus (r = 0.47, P less than 0.01) and inversely correlated with alkaline phosphatase values (r = -0.71, P less than 0.01). Mineral availability and 25-OHD sufficiency both appear to be important and to act synergistically, with neither totally compensating for the other.     

Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.

Sisters aged 3 and 4 1/2 years, respectively, who had grown and developed normally were found to have methylmalonic aciduria. The elder had had only one previous illness, at 18 months, and was thriving at six years without treatment; she was excreting up to 2 gm methylmalonic acid per day. The younger sister died during her third episode of illness, at 3 years of age. Studies of cultured skin fibroblasts showed deficient methylmalonyl coenzyme A mutase apoenzyme activity; cobalamin metabolism was normal. There was a moderate response in cultured cells to large amounts of added hydroxycobalamin; but treatment of the patient with high doses of intramuscular vitamin B12 for ten days failed to lower the urinary excretion of methylmalonic acid.     

Endocrine studies in cystinosis: compensated primary hypothyroidism.

Children with nephropathic cystinosis exhibit marked growth retardation. Improved medical management and renal transplantation have increased their life expectancy beyond the second decade. We have studied endocrine function in seven patients with cystinosis and reviewed autopsy findings of four patients and medical records of 24 others. One 10-year-old boy was overtly hypothyroid. The six other patients had normal studies of peripheral thyroid function but two had borderline and two had frankly elevated serum TSH levels. Stimulation tests of cortisol and growth hormone secretion and basal levels of serum NSILA-s were normal. Postmortem histology of the thyroid glands revealed extensive destruction and infiltration of the epithelium with cystine crystals. Despite the presence of cystine crystals in other endocrine tissues, there was no destruction of epithelium in glands other than in the thyroid. We conclude that in nephropathic cystinosis "compensated" primary hypothyroidism occurs frequently and early and may be diagnosed by measurement of serum TSH concentrations.     

Triose phosphate isomerase deficiency: prenatal diagnosis

A child with triose phosphate isomerase deficiency has congenital nonspherocytic hemolytic anemia, mental subnormality, motor impairment, growth failure, and cardiac failure. The deficiency state is characterized by moderately reduced red cell triose phosphate isomerase activity and marked instability of the abnormal enzyme to heat. The stability characteristics of triose phosphate isomerase in cultured fibroblasts define the homozygous and heterozygous states with sufficient precision to allow prenatal diagnosis of the disorder. Successful prenatal identification of a heterozygote and an unaffected fetus in utero is described.     

Pseudohermaphroditis, with testes and a 46, XX karyotype.

A 14 4/12-year-old white girl, evaluated for progressive virilization and clitormegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Mullerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Mullerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development.