ABSTRACT
We present a girl with achondroplasia and enchondromatosis. Coexistence of these two disorders has, to the best of our knowledge, not been reported previously.
Subject(s)
Achondroplasia/complications , Enchondromatosis/complications , Achondroplasia/diagnostic imaging , Child , Enchondromatosis/diagnostic imaging , Female , Humans , RadiographyABSTRACT
A simplified urinary marker analysis for diagnosis of congenital adrenal hyperplasia (CAH) and 5alpha-reductase deficiency in infancy by GC/MS-SIM is introduced. The analysis was performed in 161 patients aged 3-90 days, 99 females and 62 males. CAH due to 21-hydroxylase deficiency was diagnosed in 61 patients (42 females and 19 males; in 10 cases simple virilizing form and in 51 patients salt-wasting form) and CAH induced by 3beta-hydroxysteroid dehydrogenase deficiency without salt loss in 1 female patient. In 2 full-term newborns and 6 preterm infants, a false-positive diagnosis of CAH, which had been based on serum steroid evaluation, was made. In these cases, increased excretion of fetal adrenal zone steroids was confirmed as a possible source of false-positive serum 11-deoxycortisol and 17alpha-hydroxyprogesterone values. Lack of fetal adrenal zone steroid metabolites in 2 male newborns with salt loss symptoms led to the diagnosis of adrenal insufficiency due to X-linked adrenal hypoplasia and adrenal hemorrhage. A single analysis of urinary CAH markers by the very sensitive and selective GC/MS-SIM method can replace numerous assays of various steroids that must be carried out for positive diagnosis of abnormal steroidogenesis in infancy.
Subject(s)
Enzymes/deficiency , Metabolism, Inborn Errors/urine , Steroids/biosynthesis , Adrenal Cortex Hormones/deficiency , Adrenal Gland Diseases/congenital , Adrenal Gland Diseases/diagnosis , Biomarkers/urine , False Positive Reactions , Female , Gas Chromatography-Mass Spectrometry , Humans , Infant , Infant, Newborn , MaleABSTRACT
The aim of this study was to monitor the behaviour of carcinoembryonic antigen (CEA) and immunoglobulin IgE level in children with duodenal ulcer disease. No sex-dependent differences were found in mean values of CEA, whereas the mean IgE level in boys was twice as high as in girls. No seasonal differences in CEA and IgE levels were found. The IgE concentration increased during exacerbations, and this difference was statistically significant. CEA levels changed according to a similar pattern during exacerbation and remission, but remained within normal limits.
Subject(s)
Carcinoembryonic Antigen/analysis , Duodenal Ulcer/immunology , Immunoglobulin E/analysis , Child , Female , Humans , Male , Seasons , Sex DistributionABSTRACT
The aim of this study was to estimate the behaviour of carcinoembryonic antigen (CEA) and immunoglobulin IgE level in children with coeliac disease (CD), food allergy (FA) and duodenal ulcer disease (UD). In total, 390 determinations of CEA (201 for CD, 27 for FA and 162 for UD) and 558-IgE (238, 136 and 184, respectively) were carried out during disease aggravations and remissions. The analysis of CEA mean values with respect to sex revealed no differences while IgE level in boys with UD was twice as high as in girls. No differences in CEA or IgE levels were found with respect to the season of the year. The IgE concentration increased during aggravations, but only in the case of UD was the difference statistically significant. CEA behaviour was similar (statistically significant differences for CD and very significant for UD). Both values, however, were normal.
Subject(s)
Carcinoembryonic Antigen/analysis , Celiac Disease/immunology , Duodenal Ulcer/immunology , Food Hypersensitivity/immunology , Immunoglobulin E/analysis , Child , Female , Humans , MaleABSTRACT
The purpose of the work was an analysis of the causes of recurrent abdominal pain in children treated in the Paediatric Department, Province Hospital in Rzeszów in the years 1975-1991. The analysis included 3480 children (59.3% girls and 40.7% boys) aged 6-16 years. The causes of recurrent abdominal pain were gastrointestinal tract diseases (45.7%), urinary system diseases (36.8%), extra-abdominal diseases (6.4%), psychogenic background (11%).
Subject(s)
Abdominal Pain/etiology , Adolescent , Child , Female , Gastrointestinal Diseases/complications , Gastrointestinal Diseases/diagnosis , Humans , Male , Recurrence , Stress, Psychological/complications , Stress, Psychological/diagnosis , Urologic Diseases/complications , Urologic Diseases/diagnosisABSTRACT
Three cases are presented of hypothyroidism at the age of 6-13 years. Attention is paid to differences in the clinical picture in every of the observed children.
Subject(s)
Hypothyroidism/diagnosis , Child , Child, Preschool , Female , Growth Disorders/etiology , Humans , Hypothyroidism/complications , MaleABSTRACT
In 142 girls and 107 boys aged 5-15 years serum magnesium level was determined by the colorimetric method. Decreased values were found in 24 children including 7 boys and 17 girls. In 21 of them neurotic reactions or concentration disturbances were observed.
Subject(s)
Attention Deficit Disorder with Hyperactivity/blood , Magnesium/blood , Neurotic Disorders/blood , Adolescent , Child , Child, Preschool , Female , Humans , Male , PolandABSTRACT
Congenital hypoadrenalism was diagnosed in a 18-month boy. It is suspected that hypoplasia of the adrenals is determined genetically due to the similar course and the results of autopsy in his deceased sister.
Subject(s)
Adrenal Insufficiency/congenital , Adrenal Insufficiency/genetics , Chromosome Mapping , Family , Humans , Infant , Karyotyping , MaleABSTRACT
14481 children at the age of 6 to 15 including 7242 boys and 7239 girls underwent the examination. Children from rural areas were the majority-12240. Goiter was classified according to WHO scale from 1974. Goiter was find in 4354 children (1790 boys and 2384 girls), which constituted 30.1% of examined group. Small size goiter was predominant. O-B goiter was found in 2588 children, I. in 1299, II. in 386 III. in 81. Mielec region deserves special attention because goiter was diagnosed there in 49.3% of all examined children. Iodine deficiency seems to be the primary reason for goiter endemy.
Subject(s)
Goiter, Endemic/epidemiology , Adolescent , Child , Female , Goiter, Endemic/classification , Humans , Iodine/deficiency , Male , Poland/epidemiology , Prevalence , Rural HealthABSTRACT
In August 1987-July 1988, goiter was diagnosed in 2.3% of neonates in Rzeszów region. It was inactive in the majority of patients. Hypoactive goitre was noted in 10% of examined babies. An increase in goitre incidence in neonates is related to endemic goitre in Rzeszów region.
Subject(s)
Goiter, Endemic/epidemiology , Humans , Incidence , Infant, Newborn , Poland/epidemiologyABSTRACT
Mycoplasma pneumonia was diagnosed in a boy aged 8 years. It is stressed that the possibility of Mycoplasma pneumoniae pneumonia should be considered in cases of pneumonia refractory to traditional treatment.
Subject(s)
Pneumonia, Mycoplasma/diagnosis , Child , Humans , Male , Time FactorsSubject(s)
Arteriosclerosis/etiology , Adolescent , Female , Humans , Hyperlipidemias/complications , Male , Obesity/complications , Risk Factors , Sex FactorsSubject(s)
Colitis, Ulcerative/drug therapy , Cromolyn Sodium/therapeutic use , Adolescent , Child , Clinical Trials as Topic , Female , Humans , MaleABSTRACT
Triiodothyronine concentration in extracted human, cow's and formula milk was measured. The highest concentration (mean +/- SD = 1.56 +/- 1.34 nmol/l) was found in cow's milk and lowest (0.99 +/- 0.38 nmol/l) in formula milk. Thyroxine was not detected in any sample of milk. The scatter of obtained values for T3 was highest also in cow's milk. It seems possible that milk from same cows may to certain extense mitigate neonatal hypothyreoidism.
