We measured neutral endopeptidase (NEP) activity in serum from non-smoking healthy Japanese and in cerebrospinal fluid (CSF) from patients without neurological or inflammatory diseases. The serum NEP activity (sNEP) of 25 males and 25 females, aged 20 to 65 years, ranged from 0.003 to 1.62 pmole/min/microliter. There was no significant difference in sNEP activity between the sexes (male: 0.40 +/- 0.34 pmol/min/microliter vs female: 0.37 +/- 0.30, mean +/- S.D.). There was a significant positive correlation (p < 0.05) between sNEP and age. The NEP activity in the CSF (cNEP) ranged from 0.07 to 0.63 pmole/min/microliter. Male patients with benign prostate hypertrophy (BPH) showed cNEP activity of 0.21 +/- 0.11 pmol/min/microliter (n = 13), and female patients with myoma uteri (MU) or dysplasia of the uterus mucosa (DUM) showed activity of 0.32 +/- 0.20 (n = 5). There was no significant difference in cNEP activity between the sexes. Three patients with severe body pain showed cNEP activity of 0.21, 0.15, and 0.16 pmole/min/microliter, and these values were dissimilar from those of the BPH, MU, or DUM patients.
We report on a seven-year-old Japanese boy with Pearson syndrome, which is characterized by refractory sideroblastic anemia with vacuolization of marrow precursors and dysfunction of the exocrine pancreas, and caused by mitochondrial (mt) DNA deletions and duplications. Although analysis with Southern hybridization on his bone marrow cells at age one year or on the muscle at age five years did not detect any duplications of mtDNA, an analysis after death at age seven years detected them in the kidney, heart, and even in the bone marrow. Using long PCR to specifically amplify duplicated mtDNA, we found duplications in all biopsy and postmortem samples, indicating that duplications had been present in the patient since his early life, and that the number of duplications increased with age. The results indicate some dynamism in the mtDNA duplication and that the dynamism may imply clinical importance.
A 1 5/12-year-old girl with hypophosphataemic vitamin D-resistant rickets was treated with initial massive doses of 1 alpha-hydroxy-vitamin D3 (1 alpha-OH-D3) alone. A dramatic improvement of bone lesions and growth rate and normalization of the characteristic biochemical defects were noted within four months after the start of massive 1 alpha-OH-D3 therapy. The results of this study suggest that early therapy with massive doses of 1 alpha-OH-D3 alone improves the radiological findings and restores to normal the biochemical defects and the growth rate as early as possible. This regimen may improve motor strength and endurance and obviate the need for corrective orthopaedic procedures.
We report a 4 2/12-year-old Japanese boy with a de novo direct tandem dup (4) (q25q31.3). The major clinical picture includes postnatal growth and psychomotor retardation, thick eye-lashes, a cleft lip, and large and prominent helix and antitragus. He did not have any hearing deficit. His eyegrounds were normal. There was no organ malformations including brain, kidney, liver, pancreas, gallbladder, urinary bladder, stomach, and heart. Routine hematological tests, blood chemistry including thyroid hormones, and urinalysis including urinary screening tests for congenital metabolic disorders showed normal results. He showed an electroencephalographic abnormality which could have resulted from mild aseptic meningitis at 2 months. Our case supports the idea that the association of thumb and renal deformities in duplication 4q syndrome is related to the region 4q22-q23 as many researchers have already pointed out.
