C1 inhibitor and diagnosis of hereditary angioedema in newborns

Symptoms of hereditary angioedema may present during the child's first years. Attacks may be a particular threat to the narrower airway of the child. An early diagnosis is most valuable because effective C1 inhibitor (C1 INH) concentrate is available. We present a reference area for the antigenic and functional determination of C1 INH by using uncontaminated umbilical cord blood from 80 normal newborns collected by puncturing vessels in the newly delivered placenta. We examined two full-term babies (1 and 2) from mothers with hereditary angioedema type I the same way. The concentration of C1 INH antigen was determined by radial immunodiffusion. The C1 INH functional assay was based on the addition of a known quantity of C1s, which enzymatically splits a chromogenic substrate. The test was performed in the presence of methylamine and heparin in a kinetic microtiter plate assay. Citrated plasma was used in both assays. The data obtained in the 80 cord blood samples (2.5-97.5 percentile) were 0.11-0.22 g/L for C1 INH antigen (adults, 0.15-0.33 g/L) and 47.2-85.9% for C1 INH function (percentage of adults). In cord blood, baby 1 had an antigenic value of 0.12 g/L (7.5 percentile) and C1 INH function of 61.8% (42 percentile). The corresponding values for baby 2 in cord blood were less than 0.05 g/L (0.106 g/L < 2.5 percentile) and 34.3% (12.9% < 2.5 percentile). Baby 2 had markedly lower C4 values yet much higher C4 activation products than baby 1. At 4 mo, baby 1 had an antigenic C1 INH value of 0.24 g/L.(ABSTRACT TRUNCATED AT 250 WORDS)     

Successful pregnancy in a woman with acute myeloid leukemia treated with high-dose whole-body irradiation

BACKGROUND: Although radiotherapy is an integral part of managing certain types of hematologic malignancies, its effect on the reproductive system are well established. We report a case of successful pregnancy in a patient who received high-dose whole-body irradiation (WBI) (1,575 cGy) as part of her treatment for acute myeloid leukemia (AML). CASE: A 26-year-old woman received high-dose cyclophosphamide accompanied by high-dose (1,575 cGy) WBI as part of her treatment for AML when she was 23 years of age. The patient received oral contraceptives before, during and after treatment. After WBI, the patient developed ovarian failure and amenorrhea, which was confirmed by hormonal evaluation. The amenorrhea persisted for one year. No recurrence of AML was found. The patient was placed on hormone replacement therapy (HRT) because of vasomotor changes. An unexpected pregnancy occurred 14 months later; HRT was discontinued. The patient delivered a normal female infant at 38 weeks of gestation. The infant was followed for eight months; her development appeared to be normal. CONCLUSION: In this case report, it is unclear whether pregnancy resulted from active folliculogenesis remote from radiation therapy or from possible ovarian protection rendered by the use of oral contraceptives. The benefit of oral contraceptives in protecting the ovary from radiation injury is unknown and remains an area for future research.     

Skin diseases in Bamako (Mali)

BACKGROUND: Skin diseases have only recently been considered as a possible public health problem in developing countries. Data supporting this matter are scarce. The aim of this study is to report the experience of a specialized dermatologic center in Bamako (Mali) in order to complete two previous studies conducted in the Bamako area: a prevalence study in the general population and a study in nonspecialized health centers of Bamako. It is our intention to provide a comprehensive picture of the problem of skin diseases in an African developing country. METHODS: We retrospectively collected all cases of skin diseases diagnosed during consultations provided at the Institut Marchoux in Bamako, the only center specializing in dermatology in Mali, during the year 1993. RESULTS: A total of 10,575 new outpatients were seen with 10,889 skin diseases. The main skin diseases registered were as follows: infectious dermatoses (41% of all diagnoses, including scabies (16.6%), superficial mycoses (13.6%), and primary pyoderma (5.6%)), dermatitis (20.4%), papular urticaria (4.4%), acne (4.2%), pityriasis alba (3.6%), keratoderma (3.6%), and urticaria (3%). Typical tropical infectious diseases accounted for only 1% of all diagnoses. CONCLUSIONS: It appears that certain skin diseases (mainly scabies and pyoderma) are an important health problem for the population of the Bamako area. Public health policies should be implemented in order to manage this problem rationally.