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M Mega

Publications and source records attributed to M Mega.

32 records · Page 2Linked to original sources
PubMedDate not supplied

Congenital erythropoietic porphyria: skeletal manifestations and effect of pamidronate treatment.

Congenital erythropoietic porphyria (CEP) is a rare disorder of heme biosynthesis. Skeletal abnormalities have been described in patients with this disease. We report a 25-year-old woman with osteodystrophy from CEP. On examination, mild hepatosplenomegaly, multiple hyperpigmented scars, hypertrichosis, erythrodontia and red coloration of urine were found. Biochemical studies showed increased serum levels of alkaline phosphatase, fasting and total 24-h urinary calcium excretion. Serum 250H vitamin-D concentration was low due to avoidance of sun exposure. Skeletal radiographs disclosed marked vertical and horizontal trabecular pattern and biconcavity of most of the dorsal and lumbar vertebral bodies. Several round sclerotic lesions (1-3 cm in diameter) were seen in the skull, pelvis and one lumbar vertebrae. The sclerotic lesions were augmented in size and number compared to X-rays obtained 8 years before. Bone mineral density (evaluated by DEXA) was markedly reduced at the spine and moderately diminished at the proximal femur and total skeleton. Treatment for 11 months with pamidronate (and the addition of hydrochlorotiazide for the last 6 months) reduced to normal values the serum levels of alkaline phosphatase and fasting urinary calcium. The 24-h urinary excretion of calcium and hydroxyproline were also decreased. The BMD increased in all the skeletal areas with presumably hyperactive bone marrow: spine, head, ribs and pelvis (and total skeleton), but did not change at the extremities and diminished at the femoral neck. Patients with CEP may present osteodystrophy characterized by sclerotic lesions and osteopenia, most likely due to accelerated bone turnover in areas of active bone marrow.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

[Parameters of fetal maturity in Rh-isoimmunization (author's transl)].

On 79 samples of amniotic fluid coming from 50 cases of Rh-isoimmunization submitted to amniocentesis one or more times, the following tests were done: a) creatinine; b) proteins; c) uric acid; d) urea; e) lecithin/sphingomyelin ratio. The results were related to the degree of immunization as determined by spectrophotometric curve of the amniotic fluid. For reasons of comparison, the same tests were performed on samples of amniotic fluid from 79 pregnant non-immunized patients. Determinations of creatinine, uric acid and lecithin/sphingomyelin ratio have pointed out a delayed fetal maturity in Rh-isoimmunized pregnant women, more marked in the more severe cases. The proteins level were increased, probably also because of the transfer of IgG antibodies into the amniotic fluid, whereas the estimation of fetal maturity based on urea concentrations is quite unreliable.

Adult↗