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Biomedical subjects

H Lejarraga

Publications and source records attributed to H Lejarraga.

At least 19 recordsLinked to original sources
PubMed2001

Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.

A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age.

Calcinosis↗
PubMed2000

Normal growth velocity before diagnosis of celiac disease.

BACKGROUND: Clinical experience leads us to believe there may be patients with celiac disease who have not yet been treated, with a normal physical growth. METHODS: To evaluate height velocity of patients with confirmed celiac disease before their diagnosis and treatment, anthropometric measurements taken by the general pediatricians in charge of the primary care of the patients before they were sent to the authors' hospital were studied. Forty-two growth periods (available velocities) were measured at varying intervals (ranging from 6 to 27 months) in 23 patients aged 0.1 to 10.66 years were analyzed. RESULTS: All patients studied during the first semester of life (n = 5) showed normal growth velocity, and 6 of 10 patients showed normal growth velocity during the second semester of life. Ten of 12 patients between the ages of 1.0 and 1.99 years of age showed normal height velocity, and 7 of 9 patients aged 2.0 to 10.66 years showed normal height velocity. Normal height velocities were found not only during the first year of life, but also in children aged 1 to 8 years. CONCLUSIONS: Results should alert pediatricians and those in gastroenterology and growth clinics. In the latter case, norms for studying children who have short stature but are growing at a normal rate should not be a condition for excluding a child from screening for celiac disease.

Body Height↗
PubMed1998

A countrywide programme of continuing professional development in Argentina. Argentine Society of Paediatrics, Subcommittee of Continuing Paediatric Education.

The Argentinean Society of Paediatrics introduced in 1993 a continuing professional development (CPD) programme to raise standards of clinical practice. The aims of the project were to introduce a structured, distance learning programme accessible to all paediatricians in the country, but especially for those working far from centres of paediatric excellence. The programme is planned on an annual basis. It includes four activities: a written manual designed by a team of medical experts and educationalists comprising 12 topics; field work for participants; annual meetings in several locations in the country for discussion of the subjects; and an evaluation based on centrally designed multiple choice questions distributed by mail. In spite of a registration free of 90 Pounds a year, participation in the programme increased from 3357 in 1993 to 4126 in 1996, from a membership of 10 216 paediatricians in Argentina. The popularity of the programme may result from an appropriate interpretation of professional needs of paediatricians in Argentina, adequate organisational arrangements that reach all colleagues, including those working in remote areas, and a genuine motivation of paediatricians for participating in a learning process.

Argentina↗
PubMed1997

The organisation of a national survey for evaluating child psychomotor development in Argentina.

A total of 211 selected paediatricians were invited to participate in a national survey designed to evaluate the age of attainment of developmental milestones in children aged 0-5 years. Following a pilot study and a cascade training design, 61.1% of the paediatricians successfully completed the data collection on 139 developmental items. In the pilot study, there were more missing (not performed) items in children over one year of age, thus confirming the impression that paediatricians are more familiar with evaluating development in infants. However, in the age range 1-5 years, there were significantly fewer missing items in the gross motor area than in the other areas. Following a training programme and data editing and cleaning, a final sample of 3573 healthy, normal children was obtained. The impact of the training process was significant, in the sense that 3.5% of the items in children older than one year were not performed by the paediatricians before training, but this percentage was reduced to 1.9% after training (P < 0.01). The sample formed 0.11% of the national population less than 6 years of age and included a sex ratio of 1.01 compared with a national ratio of 1.02. There were no significant differences in the geographical distribution of the sample in comparison with that of the national population. The social composition, assessed by maternal education level, was biased towards a better education level than the national population. Mean Z-scores for height and weight were not significantly different from zero, when calculated on the basis of the national growth standards. In addition to successfully obtaining a representative sample for the analysis of the age of attainment of developmental milestones in Argentinian children, the survey also accomplished an educational objective in the training of paediatricians in developmental paediatrics.

Argentina↗
PubMed1992

Increased expression of 5q31 fragile site in a Bloom syndrome family.

In this work, we report spontaneous chromosomal breakpoints and fragile site expression induced by 5-fluorodeoxyuridine (FdUrd) and FdUrd plus caffeine in a family with Bloom's syndrome (BS) and 2 healthy donors. Standard and G-banded metaphases from each individual and each treatment were analyzed. Among the 59 common fragile sites (c-fra) identified in this work, only the frequency of 5q31 was significantly increased in the BS family with respect to healthy donors (P less than 0.005). A remarkable coincidence between the breakpoints involved in spontaneous chromosome aberrations and induced c-fra was found in BS homozygote patients. The importance of the interaction between fragile sites and chromosome rearrangements in cancer is discussed.

Bloom Syndrome↗
PubMed1989

[Bloom syndrome, constitutional and induced genetic instability in 2 cases from Argentina].

Bloom's syndrome (BS) is a rare autosomal recessive hereditary disorder associated with pre- and postnatal growth deficiency, a characteristic facial configuration, an increased risk of chromosome instability, and an increased risk of neoplasia. BS is often lumped together with Fanconi's anaemia, ataxia telangiectasia and xeroderma pigmentosum, known as "chromosome instability syndromes". Since 1954, when Bloom's syndrome was defined, more then 100 cases have been diagnosed. The "Bloom's Syndrome International Registry" does not include any case detected in Argentina. Here, we report the cytogenetic study of a family affected by BS. Two siblings were studied. A 10-year-old boy named DaYu and a 17-year-old sister named CeYu. Both showed growth retardation from one month of age onwards, facial configuration characteristic, erythematous and sun-sensitive lesions of the skin of the face. To confirm the BS diagnosis of both, obtained from their clinical aspects, they were referred to our cytogenetic laboratory. Standard cultures of peripheral blood from DaYu and CeYu (homozygotes bl/bl) and their parents (heterozygotes bl/+) were performed for sister chromatid exchange (SCE) study. A group of 3 healthy donors (homozygotes +/+) was added for spontaneous and induced chromosomal aberration (CA) analysis. For the SCE study, bromodeoxyuridine was present in the cultures and slides were stained using the fluorescence plus Giemsa technique. For the analysis of induced CA, diepoxybutane (DEB) 0.1 microgram/mL was added 48 hours before harvesting. Both patients had a spontaneously increased rate of sister-chromatid exchanges (71.3 +/- 28.2 for DaYu and 76.9 +/- 37.9 for CeYu) similar to that found in Bloom's syndrome homozygotes.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.

Abnormalities, Multiple↗
PubMed1983

[Reference tables of arm circumference from birth to 12 years of age for Argentinian girls and boys].

Standards for arm circumference for Argentinian children from birth to twelve years are presented. Such tables were constructed with healthy children living in La Plata, Argentina, a city with prevalent universitary and administrative population. Two samples of children were utilized: one from a longitudinal study which included 121 girls and 129 boys, from the middle class level who were periodically measured from birth up to the 144th week; the other one derived from a cross-sectional study covering 897 girls and 892 boys aged four to twelve years. This second sample was obtained applying a probabilistic and stratified sampling method, and is representative of La Plata's population for that group of age. Approximately 70% of the children belonged to the upper and middle social class. Raw and smoothed selected centiles are presented and compared to other communities, both local and foreign.

Anthropometry↗
PubMed1976

Age of onset of puberty in urban Argentinian children.

A cross-sectional study in La Plata city, Argentina yielded mean ages of onset of breast and pubic hair developments in 504 girls and of genitalia development in 498 boys of 10.8, 11.0 and 11.8 years respectively. These values are close to those reported previously for various other populations.

Age Factors↗
PubMed1975

The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases.

The growth of 39 children with Silver-Russell syndrome has been followed for 1-13 years. Pregnancy and labor were normal; none of the 61 sibs had the syndrome. Height at referral (mean age 4.6 years) averaged 3.6 SD below the mean and remained at this level during subsequent growth. Bone age averaged 69 percent of normal at referral but caught up by puberty, which occurred at the normal time. Nineteen cases were treated with human growth hormone without lasting effect. There is no clear-cut distinction between the Silver and Russell syndromes; the name should be Silver-Russell. It is likely that some 10 percent of cases have birth weights in the minus 1.5 to minus 2.0 SD range.

Abnormalities, Multiple↗