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.     

Triglycerides, free fatty acids, free fatty acids/albumin molar ratio, and cholesterol levels in serum of neonates receiving long-term lipid infusions: controlled trial of continuous and intermittent regimens

We compared intermittent (8 hours/day) versus continuous (24 hours/day) isocaloric lipid infusion regimens in 28 neonates. The lipid dose was increased incrementally by 0.5 gm/kg/day to either 3 gm/kg/day or until fat contributed 40% of daily calories. Serum total triglycerides, free fatty acids, free fatty acids/albumin molar ratio, and total cholesterol levels were measured prior to the daily lipid infusion, at the end of the intermittent infusion, and at 8 hours during the continuous infusion. Neonates less than 32 weeks postconception had significant fluctuation of triglycerides, free fatty acids, and free fatty acids/albumin molar ratio during the intermittent regimen at all lipid doses, but not during the continuous regimen. Neonates greater than or equal to 32 weeks postconception had significant fluctuation of serum triglycerides, free fatty acids, and free fatty acids/albumin molar ratio during the intermittent regimen with a lipid dose greater than or equal to 2 gm/kg/day, but not during the continuous regimen at all lipid doses. Serum free fatty acids correlated closely with serum triglycerides during both regimens (r = 0.89, P less than 0.001). Serum total cholesterol rose with increasing lipid doses during both regimens (f = 8.16, P less than 0.05). We conclude that neonates less than 32 weeks postconception tolerate the continuous regimen better than the intermittent regimen at all lipid doses; neonates greater than or equal to 32 weeks postconception tolerate both regimens well at lipid dose less than 2 gm/kg/day, but tolerate a continuous regimen better with lipid dose greater than or equal to 2 gm/kg/day.     

Impact of I.C.D.S. on preschoolers of urban slums

The I.C.D.S. project was launched by Government of India, and same is operating in Bombay urban slums since April 1976. The evaluation of the work done and impact of the various services provided through I.C.D.S. is being evaluated to study the progress. The study is done in six centres selected at random. All the children in these centres were examined by going door to door and interviewing parents by team of six junior doctors and two senior pediatricians. These services have produced tremendous impact on their nutritional status, immunisation and morbidity pattern which is statistically highly significant. The severe malnutrition has been brought down from 15.7% to 4.6%. The prevalence of common illnesses was also brought down initially to a great extent but in last two years, there has been negligible change in morbidity pattern.     

Fecal adenoviruses from a longitudinal study of families in metropolitan Washington, D.C.: laboratory, clinical, and epidemiologic observations

During a 29-month period, we studied enteric infection in 70 families from a pediatric practice in suburban Washington, D.C. Fecal adenoviruses were detected in stools of 18 patients by tissue culture and electron microscopic procedures. From 6 through 11 months of age, the incidence of fecal adenoviruses associated with enteritis was seven per 100, and of confirmed enteric adenoviruses (EAds), three per 100 individuals per year. All EAds belonged to subgenus G (type 41). All three patients with EAds had diarrhea; two had vomiting and one had fever, but none required hospitalization. Ten of the 15 patients with non-EAds were younger than 2 years, and 60% had diarrhea, 40% had vomiting, and 20% had fever. Combined gastrointestinal and respiratory symptoms occurred more often in those who shed non-EAds (three of 11) than in matched controls (two of 48, P = 0.04). An adenovirus was detected in approximately 6% of gastroenteritis episodes, and confirmed EAds were present in approximately 2% of episodes of gastroenteritis in children younger than 2 years of age. None of the contacts of patients with non-EAds shed such virus in their stools. None of nine family contacts of those with EAd appeared to shed adenovirus in stool. In contrast, rotavirus spread readily to exposed adults (25% of 65) and children (56% of 62) when a child in similar families had rotavirus infection.     

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.     

Changes in body proportions over the first year of life: comparisons between 'light-for-dates' and 'appropriate-for-dates' term infants

The ponderal index (PI) has been used to compare changes in body proportions over the first year of life in light-for-dates (LFD) and appropriate-for-dates (AFD) term infants. At birth the mean PI of the LFD infants was significantly lower than that of the AFD infants, but at 1 year there was no significant difference between the two groups. These findings indicate that LFD infants increase their weight relatively more than their length over the first year of postnatal life, to become similarly proportioned to AFD infants.     

Increased morbidity in low-birth-weight survivors with severe retrolental fibroplasia

Fourteen (2.2%) of 645 survivors with birth weight less than or equal to 1500 gm cared for in the Special Care Nursery between 1975 and 1981 were identified as having stage III-IV retrolental fibroplasia (RLF) in one or both eyes. These 14 survivors and 14 controls matched for birth weight have been observed for 2 to 7 years. There were no differences between survivors with RLF and controls in birth weight, gestation, multiple neonatal risk factors, or Hollingshead socioeconomic status. The only significant difference was in prolonged O2 requirements (greater than 2 weeks) (13 of 14 patients vs 7 of 14 control infants (P less than 0.025) and prolonged assisted ventilation requirements (21 +/- 15 for RLF vs 6 +/- 10 days for control infants, P less than 0.05). Follow-up assessments showed that the RLF survivors had a significantly higher incidence of neurologic abnormality, lower developmental quotients, increased requirements for special education, increased number of hospitalizations for illness, and more maternal stress as observed in the mother's adapted Life Experience Survey. We conclude that low-birth-weight infants with stage III-IV RLF are at a higher risk for neurodevelopmental problems and that their families are in need of comprehensive support services.