Nutritional rickets in suburbia.

OBJECTIVE: Vitamin D deficiency continues to be a problem in pediatrics. This report presents four children, one Caucasian male and three African-American females aged 4 to 24 months who were treated for vitamin D deficiency rickets. METHODS: One female was diagnosed in the Emergency Department during evaluation of a viral syndrome, another presented with hypocalcemic seizures and the third was a self-referral for evaluation of widened wrists. The male had biochemical rickets discovered incidentally during a hospitalization for pneumonia. All were breastfed without formula supplements. The 24-month female had severe cow and soy protein allergies and received multivitamin supplements intermittently. Birth order was from third to sixth child. Two families practiced Islam and the mothers wore veils. The females had a weight deficit for height. The females demonstrated a rachitic rosary, widening of the wrists and leg bowing. At diagnosis the serum calcium was 5.0-8.6 mg/dl, the inorganic phosphorus was 1.5-3.9 mg/dl and the alkaline phosphatase was 408-3324 U/L. The serum intact parathormone levels and the vitamin D levels were measured at Nichols Laboratories. The 25-OH vitamin D levels were 2-22 ng/ml and the 1,25(OH)2 vitamin D levels were 14-122 pg/ml. All had elevated parathormone levels. The three females had roentgenographic evidence of rickets. Two of the children also demonstrated iron deficiency. RESULTS: All patients responded to Vitamin D supplements, beginning at 2000 IU for the male and 8,000-10,000 IU daily for the females. Two children were also given calcium supplements. The three females all showed complete healing of the rickets radiologically within six months. The serum intact parathormone demonstrated an inverse correlation with the serum calcium during recovery (r=-0.669; p<0.05). CONCLUSION: Vitamin D deficiency does still occur. Breastfed children of multiparous mothers, with increased skin pigmentation, living in the higher latitudes are at increased risk and would benefit from vitamin D supplementation while breastfeeding.

The physician and unconventional medicine.

BACKGROUND: Unconventional medical therapies, that is, health interventions not normally taught in medical school, consume more than $10 billion per year; yet, little is known of physician involvement with these therapies. METHOD: A national mailed survey of primary care internists with single board certification and of board-certified family physicians was undertaken to determine physician attitude and behavior toward unconventional therapies. The survey identified 16 unconventional therapies. RESULTS: A total of 572 responses were analyzed. These indicated that more than half of these physicians would encourage patients who raise the possibility of unconventional therapy. A large proportion (57%) were willing to refer their patients for treatment for six or more unconventional therapies. CONCLUSIONS: This study indicates considerable physician interest and participation in unconventional medicine, suggesting a need for research and education to help them guide their patients.

Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques.

A 12 1/2-month-old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine cytogenetic techniques the presence of an unidentifiable marker chromosome and loss of one X chromosome was noted (i.e. 45, X/46, X, mar/47, X, mar, +mar). By fluorescence in situ hybridization (FISH) technique, the marker chromosome was identified as an isodicentric non-fluorescent Y chromosome ((45, X/46, X, idic (Ynf)/47, X, idic (Ynf), +idic (Ynf)). Although the clinical significance of this finding cannot be assessed at present, possible development of gonadoblastoma in such cases is a major concern and warrants follow-up evaluations.

Abnormalities of water metabolism in children and adolescents following craniotomy for a brain tumor.

We conducted a retrospective analysis of the cases of 122 children operated on for various brain tumors, to determine the incidence and natural history of postoperative diabetes insipidus (DI), and the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Abnormalities of water homeostasis were observed in 15 patients (12%). DI, with or without SIADH, was observed in 10 patients (8%), while SIADH alone was seen in five (4%). DI was permanent in five subjects (50%), whereas SIADH resolved completely in all affected individuals. Parenteral desmopressin (dDAVP) was an effective mode of therapy in the postoperative period. The effect did not correlate with a dosage strictly based on body weight.

Human chorionic gonadotropin (hCG) increases cytosolic free calcium in adult rat Leydig cells.

Regulation of steroidogenesis by luteinizing hormone is mediated by cAMP and calcium. We have investigated changes in cytosolic free calcium ([Ca2+]i) in Leydig cells by using Fura-2 as the fluorescent calcium indicator. Purified Leydig cells were plated on polylysine coated glass coverslips, cultured for 24 h in DMEM/F12 and loaded with Fura-2 at 37 degrees C. [Ca2+]i measurements were made fluorometrically by placing coverslips into 3 ml cuvettes with PBS+calcium. Addition of hCG increased [Ca2+]i gradually after a lag of about 2-3 min and plateaued by 5-6 min. The plateau level was sustained for at least 15 min. Absence of external Ca2+ in the medium or presence of diltiazem or nicardipine or cobalt chloride abolished the rise. Addition of BAY K 8644 or KCl caused a small but significant increase of [Ca2+]i. 8-Br-cAMP, forskolin or cholera toxin produced a gradual rise in [Ca2+]i that plateaued after 5-6 min similar to that observed with hCG. The action of hCG was inhibited by protein kinase A inhibitor (20-residues peptide) but not by protein kinase C inhibitor (staurosporine). We conclude that binding of hCG to its receptors would transmit the signal through G proteins to adenylyl cyclase to increase cAMP which would increase Ca2+ influx into cytosol across plasma membrane Ca2+ channels. Therefore, it appears that the primary action of hCG is to increase cytosolic cAMP which would then regulate [Ca2+]i as well as steroidogenesis.

Acromegaly in an infant.

Serial hormonal studies were carried out in a girl with a growth hormone-secreting pituitary adenoma and hyperprolactinemia diagnosed at 21 months of age, the youngest verified case of acromegaly. The child had progressive macrocephaly, noted at 6 months of age, which preceded the rapid acceleration of linear growth by nearly 1 year. At 21 months of age, the girl's head circumference measured 55 cm (+5.5 SD) and her height was 97.6 cm (+4.4 SD). Preoperative serum growth hormone level was 135 ng/mL, somatomedin C was 1,540 ng/mL (normal for bone age 18 to 97 ng/mL), and prolactin was 370 ng/mL (normal less than 20 ng/mL). Following total resection of a large adenoma, immunohistochemical staining of the tumor showed growth hormone but not prolactin. With longitudinal monitoring of the child for 2 years postoperatively, persistently low growth hormone levels were demonstrated and normal growth velocity (6 cm/yr). Peak serum growth hormone levels ranged from 2.8 to 4.1 ng/mL after stimulation tests with insulin, arginine, and L-dopa. Maximum sleep-entrained growth hormone level was 3.4 ng/mL. At the same time, serum somatomedin C levels measured serially were normal (29 to 111 ng/mL), whereas simultaneous prolactin levels were moderately increased (30 to 147 ng/mL). The data support the hypothesis that hyperprolactinemia may have contributed to stimulating somatomedin C and sustaining the normal growth rate in this child.