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Biomedical subjects

C Lambotte

Publications and source records attributed to C Lambotte.

At least 19 recordsLinked to original sources
PubMed1991

Enzyme immunoassay screening of alpha 1-antitrypsin in dried blood spots from 39 289 newborns.

We present a new, simple, and inexpensive sandwich-type double-antibody enzyme immunoassay for alpha 1-antitrypsin in dried blood collected on the fifth day post-partum. The method is very sensitive, having a detection limit of 2.84 fmol/well. Intra- and interassay CVs are 6.1% and 10.3%, respectively, for assay of 5-mm-diameter blood spots eluted into 7 mL of phosphate buffer. Since February 1984, we have used this method to systematically screen 39 289 consecutive births: 336 of these newborns (0.085%) showed values for alpha 1-antitrypsin below the cutoff value of 800 mg/L (50th percentile, 1470 mg/L). Of these 336 we were able to obtain 0.5 mL of serum from 161 for further testing. Four presented with a ZZ phenotype and 15 with a SZ phenotype, which indicates a deficiency in alpha 1-antitrypsin. Our data suggest a prevalence of 1.4% and 3.6% of Z and S alleles, respectively, in the French-speaking community of Belgium.

Enzyme-Linked Immunosorbent Assay↗
PubMed1990

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.

Abnormalities, Multiple↗
PubMed1989

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

Three children are described from two sibships. They share infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sibships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.

Adolescent↗
PubMed1989

[Prevention of beta-thalassemia in the French speaking part of Belgium. I. Epidemiologic, clinical, psycho-social and economic justifications].

A study was jointly conducted by three universities in order to determine whether the systematic prevention of beta-thalassaemia and related affections is justified in the French-speaking part of Belgium. In the entire geographical area considered, 19.1% of the population are foreign; 19.2% of births take place within foreign families. Around 59.7% of foreigners come from regions where beta-thalassaemia is endemic. The ethnic minorities are mostly concentrated in the cities and notably in Brussels. Around 4.1% of the minorities ethnically at risk are carriers of beta-thalassaemia. Births of new cases of thalassaemia major can be estimated at 2.9 per year, which would result, in the absence of prevention, in a population of 130 cases of thalassaemia major. In recent years, patient care has improved considerably, as demonstrated by an increasingly early diagnosis and institution of chelating therapy with an attendant gradual drop in ferritin levels. However, study of age histograms reveals that care of patients in non-endemic regions is not as satisfactory as in endemic countries where complete haemoglobinopathy control programmes have been developed. Psycho-social questioning of a sample of families confirmed that thalassaemia major is an affection which seriously impairs the quality of life. Finally, calculations projected over 20 years revealed that systematic prevention would cost from 2.3 to 2.8 times less than a purely curative approach. The authors conclude that a body of epidemiological, clinical, psycho-social, and economic arguments justify without any doubt the prevention of beta-thalassaemia and related affections in the French-speaking part of Belgium.

Adolescent↗
PubMed1989

[The prevention of beta-thalassemia in French-speaking Belgium. II. Proposal of a strategy].

Medico-social surveys and pilot experiments, conducted by the authors in Wallonia and Brussels at the request of the Ministry for the French-Speaking Community, have allowed the definition of a community-scale prevention programme. High-quality information, repeated at regular intervals and adapted to the different environments, is vital for effective voluntary screening. The contents of this information and distribution methods have been specified. Screening will take place on an occasional basis among people at risk who request it, or who accept it as an addition to other planned blood tests (curative or preventive consultations); microcytosis must be considered as a definite indication for further work up. Systematic screening is recommended in the framework of upper secondary education, through cooperation between volunteer teachers and the staff of school medical institutions; teaching methods and means have been reviewed.

Belgium↗
PubMed1987

Microcephalic osteodysplastic dwarfism (type II-like) in siblings.

We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.

Diseases in Twins↗
PubMed1987

Nager acrofacial dysostosis with cleft lip.

We report a case of Nager acrofacial dysostosis, whose clinical examination disclosed some undescribed features, as a contribution to a better delineation of this syndrome. Previously unreported features include lobulated tongue, cleft lip and mental retardation. Fetal alcohol syndrome is discussed. We propose to reunificate Richieri-Costa syndrome and Nager syndrome.

Child, Preschool↗
PubMed1987

Chromosome 22 mosaic monosomy (46,XY/45,XY,-22).

A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 22 is absent in 10.5% of lymphocytes and 8.3% of fibroblasts. This is the second case report of that kind.

Child, Preschool↗
PubMed1986

Hemoglobin D-Los Angeles [beta 121(GH4)Glu----Gln] in the Province of Liège, Belgium.

Since 1975, more than 19,000 persons have been tested for hemoglobin abnormalities in Liège. Nine unrelated carriers of Hb D-Los Angeles were discovered. They were of Belgian origin. The family of the ninth index case was studied thoroughly. In six generations, 372 descendants of a couple married in 1818 were recorded. Of the 93 tested, 31 were carriers of the Hb D variant. The complete pedigree indicates that Hb D-Los Angeles was already present in Liege province in the 18th century. A connection with India is unlikely.

Adult↗