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Biomedical subjects

E Joss

Publications and source records attributed to E Joss.

At least 19 recordsLinked to original sources

[Growth disorders].

Growth assessment forms the basis of the management of endocrine disorders in childhood. However, it is important to emphasize that there is no clear demarcation between normal and abnormal stature and that an understanding of the various components of growth and its endocrine correlate is a basis of the logical investigations and the eventual diagnosis of growth disorders. In this context it is obvious that the definition of a tall or a short child is arbitrary. In fact, normal growth embodies many normal variants, not only terms of growing within or outside the percentiles, but also in terms of skeletal maturation and duration of puberty. It is worth reinterating that percentiles mean nothing more than the proportion of children who had reached given heights at given ages when they, the standardizing population, were measured. Therefore, percentile position in itself is of no consequence in the diagnosis or management of an individual child. To estimate the rate at which a child is growing, it is necessary to measure height on more than one occasion over a not too short period of time and to divide the increment in height by the time elapsed. As the growth of a normal child tends to follow a particular percentile an endocrine investigation becomes only necessary if a child is growing extremely quickly or slowly and if a significant deviation from the percentile lines becomes apparent.

Adolescent↗

[Preventive examinations in infants and small children. A longitudinal study of practicing pediatricians].

A prospective study to evaluate well-child examinations was based on a sample of 750 children drawn at random from the patients of 15 practising paediatricians who participated in the study. These children were followed from the age of 3 months, when each who was vaccinated also received a specified examination, until the age of 5 years. Participation in the program of examinations was still 86% at the age of 18 months. By the age of 4 1/2, the participation rate had dropped to 40%. Between the ages of 3 months and 18 months, 11.2% of the sample had been diagnosed as having a pathological disorder. Of the 97 diagnoses, 35 were detected during the newborn period; 25 were detected by means other than the well-child examinations; and 37 were directly attributable to the examinations. 28 of the 97 diagnoses were still valid at the age of 5 years, and 5 of those children had a serious handicap. In an additional 59 suspected diagnoses (7.8%) only 6 could later be confirmed as a pathological condition. Of the 300 children who attended the last well-child examination at age 4 1/2, 45 (15%) had one or more pathological findings. Seventeen of the 45 diagnoses were detected between the 18-month exam and the 4 1/2-year exam, and 30 were detected at the time of the last examination. The number of diagnoses per physician varied. From each sample of 50 children per doctor, 1 to 20 children would have a disorder. Twelve of the 15 paediatricians were appreciative of the structured exam schedule, and most intended to continue with some parts of the program after the study's termination.

Child Development↗

[Experiences and attitudes of parents to ambulatory preventive and curative medical care in infancy and early childhood].

376 families having a two-year-old child were asked about their experience and opinion concerning their child's outpatient preventive and curative medical care. Half the sample resides in two urban areas ("the city") and half the sample resides in three non-urban ("the country") locations with no practising paediatrician at the time of the interview. In the city, all but 4.6% of the parents took their children to a paediatrician for the first vaccinations at three months. Nearly all the paediatricians used this opportunity to fully examine the child. In the country areas, 59% of the families had their children vaccinated by the family doctor, 38% of whom used the occasion to fully examine the child. The other 41% brought the child to the nearest city in order to visit a paediatrician. A majority of parents (80%) in all sampled areas expressed a desire for regular well-baby examinations by a physician. The well-baby clinics staffed by nurses are used significantly more frequently by country parents than by city parents. In the country, there is no difference between those families using a paediatrician and those using a family doctor. The data suggest that the clinics are a supplement, and not a replacement, for the preventive care given by a physician.

Child Development↗

Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster.

We report on two sibs with familial isolated growth hormone deficiency (IGHD) resulting from homozygosity for a 7.6 kb deletion within the growth hormone gene cluster. The deletion not only affects the structural gene for growth hormone (GH-N) but also alters sequences adjacent to the chorionic somatomammotropin-like (CS-L) gene. In contrast to previously reported cases with IGHD type IA, our two patients responded well to growth hormone substitution and formation of blocking antibodies did not occur.

Chromosome Deletion↗

Oxandrolone in girls with Turner's syndrome. A pair-matched controlled study up to final height.

Twenty-six one-year treatment periods on oxandrolone (0.1 mg/kg/day) were studied in 20 patients with Turner's syndrome. Control patients with Turner's syndrome were matched by using the following criteria: difference in bone age being not greater than 0.5 years and difference in the Bayley-Pinneau height prediction not greater than 3 cm. Height and height velocity were compared with standards of girls with Turner's syndrome (10) and expressed in standard deviation scores (SDS). On oxandrolone height velocity increased significantly from -0.3 SDS to + 3.0 SDS. The increase in height velocity was negatively correlated to the bone age at onset of treatment (r = -0.62, p less than 0.01). Height SDS improved by 0.45 SDS in the treated patients whereas it did not change in the control patients. The bone age velocity during the treatment period (including a six-month period after treatment) was 0.75 year/year in the treated, compared to 0.66 year/year in the control patients (NS). 15 of the 20 patients have reached final height. The difference in final height minus predicted height (Bayley-Pinneau) at onset of treatment was taken as a measure of "gain in final height". Seven of those (mean bone age 12.1 years at onset of treatment) were treated for one year only and had--compared to the matched controls--a mean net gain in final height of 2.5 cm (NS). Eight patients (mean bone age 10.1 years at onset of treatment) were treated for two one-year periods and had a significant mean net gain in final height of 5.2 cm. Height predictions calculated by the method of Lenko (14) gave an identical mean net gain in final height (5.1 cm).

Adolescent↗