Electrolyte disturbances due to ouabain sensitive sodium potassium pump in erythrocytes of children with sepsis.

The possible mechanism of hyponatraemia in septicaemic children was studied by measuring the intracellular red cell sodium in relation to ouabain sensitive Na(+)-K(+) pump by flame photometry. Hyponatraemia and hyperkalaemia were observed in most of the patients. There was a marked elevation in serum sodium levels and a significant reduction in serum potassium levels on recovery following therapy. The alteration in the distribution of electrolytes between plasma and erythrocytes resulted in significantly high levels of sodium and low levels of potassium within the erythrocytes of septicaemic patients which normalized on recovery. The ouabain sensitive sodium efflux rate and ouabain sensitive efflux rate constant were significantly decreased in the membranes of erythrocytes of septicaemic patients which also normalized on recovery. Our findings suggest that it is the intrinsic alterations in the transport capacity of Na(+)-K+ pump which could account for the rise in intracellular erythrocyte sodium and fall in intracellular potassium contents in septicaemic children.

Clinical and biochemical studies in homocystinuria.

Homocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatography of urine. All the 15 cases of homocystinuria were first treated with high dose oral pyridoxine. Only one case responded to pyridoxine therapy. All the other patients were started on a low methionine, High cysteine diet with folate supplementation. Only one patient showed a complete response to dietary therapy. Nonavailability and high cost of the commercially available methionine-free, cysteine-supplemented diet and late diagnosis were responsible for the poor response in the majority of our patients.

A clinical and cytogenetic study of Turner syndrome.

Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45, X karyotype had short stature (85%), dysmorphic facies (60%), delayed appearance of secondary sexual characters (100%) and primary amennorhea (100%). Those with 45, X/46, XX mosaicism were less often dysmorphic and presented with either primary or secondary amenorrhea. Patients with 45, X karyotype were younger at diagnosis and had a significantly shorter mean adult height than those with 45, X/46, XX mosaicism. The phenotype in patients with other karyotypic abnormalities was similar to the 45, X group. Short stature and primary or secondary amenorrhea occurring together in a female strongly suggests the possibility of Turner syndrome, which should be confirmed by chromosomal analysis.

Diagnostic and prognostic utility of C-reactive protein, alpha-1-antitrypsin and alpha-2-macroglobulin in neonatal sepsis: a comparative account.

C-reactive protein (CRP), alpha-1-antitrypsin (alpha-1-AT) and alpha-2-macroglobulin (alpha-2-MG) levels were evaluated serially in 25 healthy and 20 septicemic neonates and then compared as early diagnostic aids and prognostic indicators in this illness. Compared to healthy controls, septicemic neonates had significantly higher mean CRP levels (p less than 0.01). Neonates with septicemia, who recovered, had higher mean CRP levels than the group which died (p less than 0.05). As an early diagnostic aid CRP had a low Youden index, whereas for prognosis its index was higher. Septicemic neonates also had significantly higher mean alpha-1-AT levels (p less than 0.05), 12-24 hours after onset of illness, as compared to healthy neonates. Alpha-1-antitrypsin could not be used as an early diagnostic aid in septicemia, but was useful for predicting outcome. Mean alpha-2-macroglobulin levels did not show significant variation in healthy and septicemic neonates. Lower mean alpha-2-MG levels were observed in neonates recovering from septicemia. As an early diagnostic aid alpha-2-MG had a low Youden index, whereas for prognosis its index was higher. CRP had a higher Youden index than alpha-2-MG for early diagnosis of neonatal septicemia and had a higher index than both alpha-1-AT and alpha-2-MG for predicting outcome in septicemia. Serial use of CRP alone is, therefore, recommended for both purposes.

Evaluation of ceruloplasmin in neonatal septicemia.

Serial serum ceruloplasmin (Cp) levels were estimated in healthy and septicemic neonates, using single radial immunodiffusion. In 25 healthy neonates mean Cp levels were 19.82 mg/dl at birth, 18.20 mg/dl at 12-24 hours, 17.26 mg/dl at 14 +/- 4 days and 17.68 mg/dl at 28 +/- 4 days of life. For the entire neonatal period the mean Cp levels were computed to be 18.24 mg/dl. In 20 culture positive, septicemic neonates, mean Cp levels were 27 mg/dl at onset of disease, 28.65 mg/dl 12-24 hours later and 36.2 mg/dl after 7 +/- 3 days of start of illness (p less than 0.001 for all sampling intervals as compared to healthy group values in first month of life). The mean Cp levels were unaffected by gestational age in both groups. In the septicemic neonates, the mean Cp levels in dying neonates did not differ significantly from recovering neonates for all sampling intervals. It is concluded that estimation of serum Cp levels may help in diagnosis of neonatal septicemia, but it is not useful as an early diagnostic aid or for prognostication.