Rapid decrease of urinary pyridinoline excretion in growth hormone deficient children following discontinuation of growth hormone therapy

In order to examine the effect of growth hormone on urinary pyridinoline excretion, 32 patients with complete or partial growth hormone deficiency had their urinary pyridinoline excretion measured while receiving growth hormone and for 14 days after it was discontinued. There was a significant positive correlation between increases in growth velocities during the first year of growth hormone administration compared to before it, and the ratio of the urinary pyridinoline excretion levels while receiving growth hormone to those after discontinuation. Therefore, urinary pyridinoline excretion rapidly decreased in patients with growth hormone deficiency when the administration of growth hormone was stopped. Exogenous growth hormone appears to stimulate bone resorption in these patients.     

Detection of immunodeficiencies and persistent infections by urinary neopterin measurement

We evaluated the clinical significance of measurement of urinary neopterin levels in primary immunodeficiencies and persistent infections exclusively at afebrile or asymptomatic periods. Despite the examinations at afebrile or asymptomatic periods, urinary neopterin levels were elevated in some patients with primary immunodeficiencies and in patients with persistent infections of human immunodeficiency virus (HIV) or Epstein-Barr virus (EBV). Therefore, urinary neopterin measurement at afebrile periods will be useful as one of the screening tests in the detection of such disorders among children with occasional episodes of infections.     

Pyruvate dehydrogenase complex deficiency with multiple minor anomalies

Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause congenital lactic acidosis. The case of a 9-month-old female infant with PDHC deficiency caused by a mutation in exon 11 of the pyruvate dehydrogenase (PDH) Elα gene is described. Her facial features were as follows: frontal bossing, upslanting palpebral fissures, a short upturned nose, a long philtrum and low set ears. These anomalies are characteristic not only of a malformation syndrome or chromosomal aberration, but also of PDHC deficiency. Because PDHC deficiency requires early treatment, metabolic disorders should be kept in mind in a patient with dysmorphic features. Further, she had multiple minor anomalies including bilateral inguinal herniae, an umbilical hernia and small hands and feet, which have not been described in previous reports.     

Relationship between Urological Disease and Inferior Vena Cava Reflux on Color Doppler Ultrasonography

Objectives: The possible relationship between urological disease and inferior vena cava (IVC) reflux was examined. Methods: Transabdominal color Doppler ultrasonography of the IVC was performed. The patient was placed supine and the convex probe was positioned in vertical to the upper abdominal wall. Then the extent of reflux in the IVC accompanying each heart beat was examined near the diaphragm. A total of 403 patients (202 males and 201 females aged 12–90 years) were studied. The relationship between the existence of IVC reflux or its severity and urological disease was examined. Results: The 202 males included 104 and 98 subjects without and with IVC reflux, respectively, while the 201 females included 64 and 137 subjects without and with IVC reflux, respectively. The prevalence of IVC reflux was significantly higher in females than males. Chronic prostatitis (18/21 subjects) in males and stress incontinence (22/23 subjects) in females were significantly related to the existence of IVC reflux. Conversely, urolithiasis was related to lack of IVC reflux in females. Conclusions: IVC reflux may be positively or negatively related to the occurrence of some urological diseases. Pelvic congestion secondary to IVC reflux may be one of the factors contributing to chronic prostatitis and stress incontinence.     

An early onset of hereditary progressive dystonia with marked diurnal fluctuation: Determining clinical status using gait analysis

We report on a 5 year old girl who has hereditary progressive dystonia with marked diurnal fluctuation that improved remarkably after treatment with L-dopa. A gait analysis of the patient was done and we compared her gait patterns with those of a normal child. The following results were obtained. Before L-dopa treatment: (i) knee extension time was prolonged with genu recurvatum; (ii) the flexors and the extensors were simultaneously activated in the stance phase, and reciprocity between them was impaired; and (iii) recorded sole contact was a toe-only pattern. After L-dopa treatment: (i) the step cycle was shorter mainly due to a shorter knee extension time; (ii) genu recurvatum improved; (iii) reciprocal activities of the flexors and the extensors were observed; and (iv) a normal sole contact pattern was also observed. The data from the gait analysis were useful in stabilizing the subject's clinical condition and in evaluating changes to it.