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Biomedical subjects

J Zeman

Publications and source records attributed to J Zeman.

At least 73 records · Page 4Linked to original sources
PubMed1999

Incorporating a developmental perspective in doctoral training: survey of clinical child psychology training programs and introduction to the special section.

Examined the degree to which clinical child programs incorporate and integrate developmental theory into their training, and introduced the contributions of 6 leaders in the field to this special section. Fifty-one clinical child doctoral programs responded to the survey. Results indicate that 3 types of training programs are operating: (a) child emphasis (n = 7), which do not have a formal clinical child training program but do have a faculty member who has child research interests; (b) clinical child (n = 37), which have a group of faculty members with specific child research and clinical interests and a formalized program of study; and (c) developmental-clinical programs (n = 7), which are similar to clinical child programs but require a substantive amount of developmental psychology course work and endorse a developmental psychopathology perspective. Findings reveal that clinical child programs have become increasingly differentiated and specialized over the past 20 years, but, with the exception of developmental-clinical programs, most programs are still neglecting to incorporate developmental theory into training. This issue, as well as concerns about the future direction of clinical child doctoral training is addressed in this special section on the Importance of Incorporating Developmental Theory Into Clinical Child Training.

Child↗
PubMed1999

[Leber's hereditary optic nerve neuropathy].

The authors present a case report of 26 years old man with bilateral optic nerve neuropathy. Detection of heteroplasmic mutation of mitochondrial DNA at G3460A site confirmed the suspicion on Lebers hereditary optic nerve neuropathy (LHON). Genetic and environmental factors of the disease and various accompanying neurologic and other symptoms, which can together with the optic nerve defect participate in the development of of the LOHN clinical pattern are discussed. (Ref. 12.)

Adult↗
PubMed1998

[Lactate acidosis in childhood].

BACKGROUND: Secondary lactate acidosis is found in children with hypoxaemia, with impaired tissue perfusion, in hepatic and renal failure or in intoxications. Primary lactate acidosis is usually caused by hereditary metabolic disorders. The objective of the trial was to analyze the causes which lead in childhood to the development of primary hyperlactacidaemia. METHODS AND RESULTS: The authors examined during 1995-1996 the lactate and pyruvate concentration in 479 children referred by paediatric and neurological departments with a suspect hereditary metabolic disturbances. A raised lactate in blood or cerebrospinal fluid > 2.3 mmol/l was found in 230 children incl. 49 where a metabolic disorder was detected. Ten children had impaired cytochrome c oxidase, two children had a combined deficience of NADH dehydrogenase and cytochrome c oxidase, three children had a deficience of the pyruvate dehydrogenase (PDH) complex, one child had a deficience of ATP synthase and seven children suffered from impaired beta-oxidation. Glycogenosis type I, III or IX was found in 13 children. In three children organic aciduria was found, two children had an impaired urea cycle and three children impaired fructose metabolism. In five children a low level of free and total carnitene was found as a result of valproate treatment. A significant increase of the lactate level by more than 1 mmol/l during an oral glucose load was found in 11 of 16 children with impairment of the respiratory chain or PDH complex. In 58 children concurrently lactate in blood and cerebrospinal fluid assessed but no correlation of lactate levels was found. CONCLUSIONS: In patients with suspect hereditary metabolic disorders examination of lactate, pyruvate and alanine levels can be considered a screening test for detection of mitochondrial disorders. It remains difficult to reveal the cause of hyperlactacidaemia in a sick child even if a wide range of laboratory methods are used which contribute to the diagnosis of hereditary metabolic disorders.

Acidosis, Lactic↗
PubMed1998

[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].

BACKGROUND: A heteroplasmic A3243G point mutation in tRNALeu(UUR) gene of mitochondrial DNA (mtDNA) is found in patients with MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes), less frequently in patients with other dominating clinical features, such as deafness, diabetes mellitus type 2, hypertrophic cardiomyopathy, renal problems or inborn development defects. Present report describes histochemical, enzymatic and molecular biology studies of the family with clinical variant of meals syndrome. METHODS AND RESULTS: A 45-year-old woman with progressive muscle weakness, external ophtalmoplegia, perceptive deafness, ischemic heart disease, diabetes mellitus type 2 and hyperlactacidemia was metabolically investigated because the multiorgan problems indicated mitochondrial origin of the disease. Muscle biopsy revealed pronounced myopathic changes, ragged red fibers and decreased activity of respiratory chain enzymes - succinate cytochrome c reductase (< 5% control) and cytochrome c oxidase (< 10% control). Restriction fragment analysis of mtDNA from muscle, blood and hair follicles detected heteroplasmic A -> G mutation in the position 3243 of the tRNALeu(UUR) gene, which was more pronounced in muscle (28% of total mtDNA) than in blood (12%) or in hair follicles (10%). No mutation was found in blood and hair follicles of patient's mother and daughter. CONCLUSIONS: Diagnostics of mitochondrial diseases require close collaboration of clinicians with specialised laboratories. Treatment of mitochondrial disorders is only symptomatic, however, early diagnosis of the molecular defect is important for genetic counselling.

DNA, Mitochondrial↗
PubMed1997

[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].

The authors describe the first case of mucolipidosis II in the Czech Republic. The cause of this autosomal recessive hereditary disease is deficient synthesis of mannoso-6-phosphate ligand on precursors of lysosomal enzymes which normally make their transport into the lysosomal system possible. The diagnosis was proved by the presence of typical lysosomal cumulation in bioptic specimens and extremely elevated activity of lysosomal enzymes in the patient's serum caused by their non-regulated secretion and subsequent intracellular depletion. During the second pregnancy in the family prenatal diagnosis was made. A normal range of lysosomal enzyme activities in the supernatant of the amniotic fluid and in cultivated chorionic villi along with normal results of ultrastructural examination of the chorionic villus indicated the development of an intact foetus.

Czech Republic↗
PubMed1997

[Enzyme therapy in children with severe forms of Gaucher's disease].

The enzyme therapy with Ceredase in patients with Gaucher's disease is at present probably the most expensive treatment in the whole world. One-year treatment of an adult patient with Gaucher's disease costs more than 7 million crowns. Indications for treatment in individual patients as well as financial provisions are so far problematic in the Czech Republic. From a total of 28 patients of varying age with Gaucher's disease diagnosed by the authors Ceredase was administered to two boys with a severe course of the disease. Within one year of treatment the health status of both children improved, growth became normal, the spleen diminished in size by 20-35%, haematological manifestations of hypersplenism are receding, there was a 32-46% decline of the activity of serum chitotriosidase and biochemical parameters of the disease improved.

Child↗
PubMed1997

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

A series of 57 patients (from 51 families) with neuronal ceroid lipofuscinosis (NCL) has been diagnosed during the last 25 years. Using clinical and electrophysiological criteria together with results of ultrastructural, histochemical, immunohistochemical and neuropathological analyses it has been possible to classify the following NCL types. Two cases were of the infantile type (CLN1), one case of the juvenile (CLN3) type and one case of the adult (CLN4) type. The bulk of the series was represented by 26 cases of the late infantile (CLN2) type and by 27 cases of the early juvenile (CLN6) type (also called non-Finnish variant late infantile, or Lake-Cavanagh). Besides the infantile form, microcephaly was a relatively frequent finding (nine cases) in the late infantile and early juvenile NCLs. In more than half of the late infantile and early juvenile cases there was a significant reduction of the nerve conduction velocity. The early juvenile CLN6 type was found to have a relatively high incidence in the Romany population (12 cases in nine families). Incidence of NCL in the Czech republic is estimated to be 1.3:100,000.

Adolescent↗
PubMed1997

Social-contextual influences on expectancies for managing anger and sadness: the transition from middle childhood to adolescence.

This study examined the influence of emotion type (i.e., anger, sadness), audience type (i.e., mother, father, best friend), gender, and age on 140 5th-, 8th-, and 11th-grade adolescents' emotion management decisions, emotional self-efficacy, and outcome expectancies. Participants were read 8 vignettes and responded to 8 questions per vignette. Results indicated that 8th-grade adolescents reported regulating emotion most and expected the least interpersonal support from mothers. Children expressed greater self-efficacy and regulation of sadness than of anger. Boys reported dissembling emotion and expecting a negative interpersonal response to emotional behavior more than did girls. Children were more concerned with protecting feelings of friends than with protecting feelings of fathers.

Adolescent↗
PubMed1997

Opsismodysplasia: a case report.

A 6-month-old boy with opsismodysplasia is reported. The purpose of this paper is to draw attention to severe ureteric reflux and incidence of pseudo-obstruction, findings not previously reported in opsismodysplasia. They are most likely the result of an intrinsic neuromuscular defect which also affects the skeletal muscles. Another new feature, not reported in opsismodysplasia, was dilatation of ventricles probably secondary to brain atrophy.

Atrophy↗
PubMed1996

[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring].

BACKGROUND: Elevated phenylalanine levels in maternal blood (hyperphenylalaninaemia) during pregnancy damages the developing foetal tissues. Early detection of pregnant women with hyperphenylalaninaemia and adherence to a low phenylalanine diet already before conception and throughout pregnancy can prevent this damage. The objective of the investigation are results achieved screening and strict monitoring of low phenylalanine dietetic treatment in detected pregnant women of the Prague population. METHODS AND RESULTS: 186 350 healthy women of the Prague population were examined by the chromatographic screening test in a venous blood sample during their first visit in a maternity welfare centre and 22 positive cases were detected (incidence 1:8470). In 86% mild, persistent or benign forms of phenylketonuria were involved. Nineteen patients were treated by a low phenylalanine diet and the phenylalanine tolerance was monitored as well as the nitrogen balance, amino acids in serum and urine, protein markers, trace elements, vitamins, lipids, the body mass index-BMI, changes of body weight after introduction of the dietetic treatment and treatment during pregnancy. A significant increase of the phenylalanine tolerance by 20 to 200% was found, mostly in the second half of pregnancy and reduced values of serum and urinary selenium. The decrease of body weight when the diet was introduced and the increment during pregnancy correlated with the BMI value. In the other investigated parameters no significant deviations were found. CONCLUSION: Fifteen healthy children with normal psychomotor development delivered by 12 mothers with hyperphenylalaninaemia provide evidence of the effectiveness of prenatal screening for hyperphenylalaninaemia during pregnancy.

Adolescent↗
PubMed1996

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.

Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were dominated by extensive pulmonary and cardiac amyloid infiltration. No Gaucher cells were found in the lungs. Aside from a glucocerebrosidase deficiency the patient was also deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum of Gaucher patients. Analysis of mutations in the glucocerebrosidase gene revealed heterozygosity for N370S and D409H mutations. The normal amount of glucocerebrosidase was found in the spleen by Western blotting. We suggest that amyloidosis should be considered in the differential diagnosis of severe cardiopulmonary disease in Gaucher patients.

Amyloid↗
PubMed1996

Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study.

The intellectual development and school performance of 81 adolescents with hyperphenylalaninaemia type I between the ages 15 and 19 years were evaluated in a retrospective study. All adolescents were born between 1975-1979. In spite of the continuous changes and improvement of dietary treatment, there were no differences in the dietary approach in all phenylketonuria centres involved. A significant negative correlation between IQ of adolescents with phenylketonuria and the onset of dietary treatment was observed (r = -0.37, P < 0.01). The best school performance was found in the group of adolescents with dietary therapy which was introduced in the first weeks of life. There was no correlation between IQ of the adolescents and their phenylalanine level in the neonatal period. There was a significant negative correlation between IQ of adolescents and the average level of blood phenylalanine in the first 5 years of life (r = -0.42, P < 0.01), but this correlation was less significant later on and was not present after the age of 14 years. Dietary compliance was much more difficult to achieve in adolescence than in childhood.

Adolescent↗
PubMed1996

Display rules for anger, sadness, and pain: it depends on who is watching.

This study examined factors that may influence children's decisions to control or express their emotions including type of emotion (anger, sadness, physical pain), type of audience (mother, father, peer, alone), age, and sex. Children's reported use of display rules, reasons for their decisions, and reported method of expression were examined. Subjects were 32 boys and 32 girls in each of the first (M = 7.25 years old), third (M = 9.33 years old), and fifth grades (M = 11.75 years old). Regardless of the type of emotion experienced, children reported controlling their expression of emotion significantly more in the presence of peers than when they were with either their mother or father or when they were alone. Younger children reported expressing sadness and anger significantly more often than did older children, and girls were more likely than boys to report expressing sadness and pain. Children's primary reason for controlling their emotional expressions was the expectation of a negative interpersonal interaction following disclosure.

Anger↗