Granulopoiesis in Down's Syndrome

PEDIATRICS ◽  
1966 ◽  
Vol 37 (1) ◽  
pp. 108-110
Author(s):  
PETER R. GALBRAITH ◽  
LESLIE S. VALBERG

The rate of disappearance of granulocytes labeled with DFP32 from the circulation was normal in four subjects with Down's syndrome. The mean blood granulocyte mass and mean granulocyte turnover rate were also normal in these subjects.

1964 ◽  
Vol 206 (1) ◽  
pp. 83-88 ◽  
Author(s):  
S. O. Raab ◽  
J. W. Athens ◽  
O. P. Haab ◽  
D. R. Boggs ◽  
H. Ashenbrucker ◽  
...  

Dog granulocytes were labeled in vitro with radioactive diisopropylfluorophosphate (DFP32) and then returned to the circulation of the donor. Granulocytes were separated from whole blood by utilizing hexadimethrine bromide as the sedimenting agent and saponin as a lysing agent. The labeled granulocytes disappeared from the circulation in an exponential fashion with a mean (±1 sd) half-time disappearance of 5.6 ± 0.95 hr. The size of the total blood granulocyte ( TBGP), circulating granulocyte ( CGP), and marginal granulocyte ( MGP) pools, and the granulocyte turnover rate ( GTR) were measured in 31 normal, unanesthetized dogs. The mean values ± 1 sd, expressed as number of cells x107/kg body wt., were as follows: TBGP, 102 ± 34.8; CGP, 54 ± 20.7; MGP, 48 ± 23.4; and GTR, 305 ± 111.5 cells/kg day. The values observed in anesthetized and in unanesthetized, splenectomized dogs were not significantly different from the above values.


1974 ◽  
Vol 124 (582) ◽  
pp. 453-455 ◽  
Author(s):  
P. A. P. Moran

Penrose and Smith (1966) have reviewed the literature on Down's syndrome in great detail, and this has been followed by an important recent review by Richards (1973). In Chapters 10 and 11 of Penrose and Smith's book they discuss the remarkable frequency distribution of the ages of mothers of patients, compared with that of the general population at the corresponding place and time, and they summarize the large number of studies made on this subject. The mean age of the mothers is shifted upwards by amounts which vary in different countries from about 6 to 8 years. The remarkable feature, however, is that there appear to be two bumps in the curve. These are usually (but not always) not large enough to make the curve bimodal, and J. B. S. Haldane therefore coined the term ‘bitangentiality’ for this phenomenon, which appears in most published studies and in the group of all sample cases (9,441) given by Penrose and Smith, Fig. 76. Collmann and Stoller (1962) make a complete survey of all mongol births in Victoria, Australia, from 1942 to 1957 and here there is a distinct bimodality.


1971 ◽  
Vol 16 (3) ◽  
pp. 253-259
Author(s):  
R. Dussault ◽  
M. L. Destiné ◽  
L. Dallaire

The authors did chromosomal studies on four hundred and forty patients in an institution for the mentally retarded. Among the eighty-eight patients who had Down's syndrome, five had a reciprocal translocation, for a frequency of 5.6 per cent. The parents of four of these children had a normal chromosomal pattern. Among the remaining three hundred and fifty-two patients, two had a gonosomal anomaly and three had an autosomal anomaly, for a frequency of 1.4 per cent. These data are compatible with the nature of the psychomotor defects observed and the mean age of the patients who constituted a heterogeneous group of mentally retarded individuals.


2014 ◽  
Vol 62 (1) ◽  
pp. 7-12
Author(s):  
Lorena Nielsen DAMASCENO ◽  
Roberta Tarkany BASTING

OBJECTIVE: The aim of this study was to analyze the facial features of patients with Down syndrome, such as projection of the nose, projection and length of upper and lower lips, projection of soft pogonion and to compare them with the standardized analysis by Ayala and Gutierrez1. METHODS: The sample consisted of 20 patients with Down's Syndrome, between 8 and 13 years-old of both genders. The analysis was performed by one orthodontist, using lateral cephalograms and photography in natural head position. For statistical analysis, the mean values of linear measurements within a range of 95% were used. RESULTS: The mean (± standard deviation) showed a nasal projection of 10.1 mm (2.4), the upper and lower lip in front of the vertical reference line, subnasal and soft pogonion with a retrusion of 4.95 mm (4.6). The length of the upper lip showed a value of 20.2 mm (2.4) and the length of the lower lip of 42.5 mm (2.9). CONCLUSION: The facial analysis of patients with Down's Syndrome, compared with Ayala and Gutierrez1, showed smaller nasal projection, greater projection of the upper and lower lip, but lengths, and retrusion of the soft pogonion, similar to those of normal individuals


PEDIATRICS ◽  
1978 ◽  
Vol 61 (4) ◽  
pp. 564-568 ◽  
Author(s):  
C. E. Cronk

A sample of 90 children with Down's syndrome were measured for recumbent length and weight from birth to age 36 months at the Children's Hospital Medical Center in Boston. At birth, means for both length and weight were reduced by about 0.5 SDs from the control group means. By 36 months, mean recumbent length was greater than 2 SDs below that for the control group, while the mean for weight was reduced by about 1.5 SDs from the control group mean. Growth velocity for both length and weight was most deficient within the first two years of life. About 30% of the sample demonstrated excess weight for length relations by 36 months. Children with moderate or severe heart disease were significantly smaller than those without or with mild cardiac problems at all times after birth. Measurements of a subsample of children at 4, 5, and 6 years of age suggested that growth velocity after 3 years of age may be within the range of normal. Assessment of growth of the child with Down's syndrome may be carried out with reference to charts plotting tenth to 90th percentiles based on these data.


Blood ◽  
1965 ◽  
Vol 25 (5) ◽  
pp. 683-692 ◽  
Author(s):  
PETER R. GALBRAITH ◽  
LESLIE S. VALBERG ◽  
MALCOLM BROWN

Abstract Leukokinetic studies were performed using granulocytes labeled in vitro with radioactive diisopropylfluorophosphate (DFP32). The half-time of the granulocytes in the circulation, blood granulocyte mass and granulocyte turnover rates were determined. In control subjects the mean half-life was 6.44 hours with a range of 5.1 to 7.7 hours. The mean blood granulocyte mass was 38 x 109 cells with a range of 19.9 to 36.4 x 109 cells and the granulocyte turnover rate was 4.08 x 109 cells per hour with a range of 2.51 to 5.50 x 109 cells per hour. There was a direct relationship between the half-life and the blood granulocyte mass in the control subjects. In 6 subjects with infection the blood granulocyte mass was uniformly increased. The mean half-life and mean granulocyte turnover rate were both increased above the normal range. In 11 subjects with carcinoma several different leukokinetic patterns were found. The blood granulocyte mass was raised in 5 patients, but in only one of these was the granulocyte turnover rate increased above the normal range. In 6 subjects the blood granulocyte mass was within the normal range and deviations from the mean control value were accompanied by proportionate changes in the granulocyte turnover rate in all but 1 patient. No relation was found between the half-life and the blood granulocyte mass in subjects with infection and/or carcinoma. The possibility that this was due to the establishment of a new steady state of blood granulocyte mass at altered levels of granulocyte production, or that steady state conditions did not exist has been considered. However the data are interpreted no evidence for suppressed granulopoiesis was found in subjects with advanced malignant disease.


2022 ◽  
Vol 12 ◽  
Author(s):  
Kamila Szeliga ◽  
Aleksandra Antosz ◽  
Karolina Skrzynska ◽  
Barbara Kalina-Faska ◽  
Aleksandra Januszek-Trzciakowska ◽  
...  

IntroductionThyroid dysfunctions are one of the most common abnormalities coexisting in children with Down’s syndrome (DS) and have been reported in up to 54% of cases.Aim of the StudyThe purposes of this retrospective study were to investigate the course of subclinical hypothyroidism in children with DS, to evaluate the thyroid function of these subjects in relation to the risk of developing overt thyroid disease and autoimmunity, and to identify clinical and biochemical characteristics of patients prescribed L-T4 therapy in children and adolescents with DS and SH.Material and MethodsThe records of DS patients referred to the Endocrinology Outpatient Clinic between 2010 and 2015 for screening of thyroid function were observed till the end of 2019 June and analyzed retrospectively. The children diagnosed with congenital hypothyroidism, acute lymphoblastic leukemia, and seizures and treated with drugs that may have interfered with thyroid function like lithium, antiepileptic, or iodinated drugs and glucocorticoids were excluded from the study.ResultsThe data of 77 DS patients were collected, evaluated, and analyzed. The study group consisted of 73 patients (32 girls and 41 boys with the mean age at baseline of 3.0 ± 4.5 years). A total of 63/73 (87%) children were diagnosed with SH. The 16/63 (25.4%) patients were followed-up without the treatment (group SH-T0), and therapy with levothyroxine (L-T4) was introduced in 47/63 (74.6%) SH children with a mean dosage of 1.8 ± 1.0 μg/kg/day (group SH-T1). Thyroxine supplementation did not improve growth expressed as ΔhSDS (0.1 ± 1.3, ranged −2.1 to 3.8 in SH-T0 vs. 0.0 ± 0.7, ranged −1.7 to 1.4 in SH-T1, p = 0.96) and ΔBMI Z-score (0.3 ± 0.9, ranged −0.9 to 2.6 in SH-T0 vs. 0.3 ± 1.1, ranged −2.1 to 2.9 in SH-T1, p = 0.65). Positive anti-TPO and anti-TG antibodies were detected in 7/63 (11.1%) DS cases.ConclusionsSH is the most frequent presentation of thyroid gland dysfunction in DS children. A small percentage of patients develop an overt hypothyroidism, particularly in females with mostly positive titer of antithyroid autoantibodies.


1984 ◽  
Vol 1 (3) ◽  
pp. 221-229
Author(s):  
Karen P. DePauw

This study was undertaken to investigate the total body and segmental centers of mass of individuals with Down’s syndrome. The 40 subjects were divided equally by gender into the following age groups: (a) ages 6 to 10, (b) ages 11 to 18, (c) adult females, and (d) adult males. Data on mass centroid locations were collected through a photogrammetric technique. Frontal and right sagittal-view slide photographs on each subject were digitized and the data logged into a computer program. The program calculated the segmental mass centroid locations and total body center of mass. Differences in total body and segmental center of mass locations were found between individuals with Down’s syndrome (DS) and nonhandicapped individuals. Analysis of the data on the DS children indicated that the mean center of mass location for the total body was within the range reported for nonhandicapped children. The adult DS male and female subjects were found to have a lower total body center of mass when compared to existing data on nonhandicapped adults. It was also found that the segmental mass centroid locations for the head and trunk segment of DS subjects were consistently lower than those found in nonhandicapped individuals. This finding points to an overall lowering of the center of mass found with DS subjects.


1982 ◽  
Vol 140 (3) ◽  
pp. 249-256 ◽  
Author(s):  
L. J. Whalley ◽  
A. D. Carothers ◽  
S. Collyer ◽  
R. De Mey ◽  
A. Frackiewicz

SummaryData on the families of 74 probands with autopsy-proven Alzheimer's disease did not support the hypothesis, advanced by Heston and co-workers, of a familial association between Alzheimer's disease, Down's syndrome and immunoproliferative disorders. However, there are difficulties of interpreting negative conclusions in this type of study, particularly those resulting from small sample size and the impossibility of tracing all relatives; only the data for immunoproliferative disorders are incompatible with the hypothesis, those for Down's syndrome being too few to be informative. The incidence of presenile dementia among the first-degree relatives of probands was raised, as in many previous studies, and was consistent with a simple polygenic model. The mean parental age at birth of the probands was significantly raised by about 2 years (P = 0.01), but so also was that of their unaffected sibs, suggesting that the mechanism differs from that occurring in trisomy 21 and certain other aneuploidies.


PEDIATRICS ◽  
1967 ◽  
Vol 40 (1) ◽  
pp. 92-95
Author(s):  
HOWARD A. PEARSON

Normal mitotic and maturation granulocyte pools in Down's syndrome are evidenced by the finding of normal marrow cellularity and morphology. Normal marrow granulocyte reserves are indicated by a normal response to endotoxin injection. The normal levels of serum muramidase support the concept of a normal granulocyte turnover rate. Therefore, it is considered unlikely that there is a significant abnormality of granulocyte kinetics in Down's syndrome. It is also unlikely that increases in leukocvte enzymes in this condition are due to a relatively immature granulocyte population. Rather, they may reflect some general effect of genetic imbalance.


Sign in / Sign up

Export Citation Format

Share Document