ABSTRACT
With rare exceptions, the more than 600 human hemoglobin variants described are caused by a single point mutation. Other abnormal features, such as unequal crossing-over, frameshift mutagenesis or double mutations in the same polypeptide chain, have seldom been encountered. We report two new variants caused by such rare mutational events. Hb Zaïre [alpha 116(GH4)-His-Leu-Pro-Ala-Glu-117 (GH5)] is the second example in which a short amino acid sequence is inserted within the alpha-chain. This abnormal hemoglobin results from a tandem repetition of 5 amino-acid residues, from sequence 112 through 116, at the end of the GH corner. Hb Duino is an unstable hemoglobin. It presents within the same beta-chain, the association of two rare point mutations; these substitutions are those found in Hb Newcastle [beta 92(F8)His----Pro] and in Hb Camperdown [beta 104(G6)Arg----Ser]. Family studies demonstrated that the Hb Newcastle abnormality was a de novo mutation of a gene already carrying the Hb Camperdown substitution.
Subject(s)
Hemoglobins, Abnormal/genetics , Mutation/genetics , Adult , Amino Acid Sequence , Base Sequence , Female , Hemoglobins, Abnormal/chemistry , Humans , Male , Molecular Sequence Data , PedigreeABSTRACT
Vitamin A status has been assessed by studying plasma vitamin A and retinol binding protein (RBP) levels in premature infants receiving 7,500 IU vitamin A/d (RDA 660-3,300 IU/d) and in control term babies during the 3 first months of life. Sampling was performed within the first week (D0-D7), between the 8th and the 30th day (D8-D30) and during the 2nd and the 3rd month of life (M2-M3). At D0-D7, vitamin A levels of the PTI group (28-32 weeks gestational age), PTII (33-36 weeks GA) and AT (control term newborn) were 242.1 +/- 20.5 (X +/- SEM), 176.1 +/- 12.3 and 213.1 +/- 17.1 micrograms/l respectively (P = 0.005). At D8-D30, these values were 264.2 +/- 26.0, 270.4 +/- 21.6 and 242.6 +/- 24.5 micrograms/l respectively (NS), and at M2-M3 234.2 +/- 21.6, 282.1 +/- 18.5 and 292.1 +/- 31.5 micrograms/l (NS). A significant difference was found between the values of the different dosage periods for PTII and AT groups; no difference in RBP levels was found either between groups or between dosage periods. At birth, our results show that the RBP synthesis is not closely linked to gestational age. The plasma vitamin A levels which rely on foetal stores and therefore on transplacental passage and on peripheral tissue requirements are low at 33-36 weeks gestational age. With a 7,500 IU daily supplement, excessively high vitamin A levels were not observed in premature infants; vitamin A and RBP levels in premature infants receiving supplement are not different from controls despite the 8-12-week term high vitamin A supply.
Subject(s)
Infant, Premature , Retinol-Binding Proteins/analysis , Vitamin A/blood , Follow-Up Studies , Gestational Age , Humans , Infant, Newborn , Regression Analysis , Retinol-Binding Proteins, Plasma , Vitamin A/therapeutic useABSTRACT
Three cases of light chain deposition disease are reported. The condition was associated with monoclonal dysglobulinaemia in two cases and with amyloidosis in one case. This, and the different course of the disease in these three patients, illustrates the need for an early histological diagnosis, using immunofluorescence with monospecific anti-light chain sera.
Subject(s)
Immunoglobulin Light Chains , Immunoglobulin kappa-Chains , Paraproteinemias/diagnosis , Aged , Extracellular Space , Female , Humans , Kidney/immunology , Paraproteinemias/pathology , Polymorphism, GeneticABSTRACT
From a systematic neonatal screening for cystic fibrosis in the Basse-Normandie area and to prevent disorders of the intestinal transit related to malabsorption, neonates then infants were given a semi-elemental hypercaloric diet, with supplements in nitrogen, MCT, minerals, vitamins and low in LCT. Diets were adjusted every month during a consultation using clinical and biological parameters. Results in the first 14 children showed that clinically as well as biologically, these children may remain within the normal range, avoiding the previously reported growth retardation and mineral or vitamin deficiencies. This procedure should allow an improvement in the quality of life and prognosis of such children, by maintaining adequate nutritional status.
