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Biomedical subjects

E Plöchl

Publications and source records attributed to E Plöchl.

At least 19 recordsLinked to original sources
PubMed2001

Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, shows a spectrum of severity ranging from severe neonatal hyperammonemic coma to no symptoms among adults. We report on the multiorgan procurement from a donor who died of cerebral edema due to unrecognized late-onset OTC deficiency. The donor's OTC deficiency was diagnosed retrospectively since the liver graft recipient developed cerebral edema postoperatively due to hyperammonemia. Plasma ammonia was extremely elevated (3793 micromol/l), but was not accompanied by general liver dysfunction. Post mortem, the diagnosis of OTC deficiency was established by enzyme and molecular analysis in a biopsy of the transplanted liver. In contrast to the fatal course of the liver graft recipient, the kidney, lung, and heart transplantations were successful. Ten months after transplantation these recipients were alive and showed good graft function. This case demonstrates the importance of careful donor evaluation, particularly if the donor's cause of death is obscure.

Adult↗
PubMed2000

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. To investigate whether TRPS III is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, we performed extensive mutation analysis and evaluated the height and degree of brachydactyly in patients with TRPS I or TRPS III. We found 35 different mutations in 44 of 51 unrelated patients. The detection rate (86%) indicates that TRPS1 is the major locus for TRPS I and TRPS III. We did not find any mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations. Evaluation of skeletal abnormalities of patients with TRPS1 mutations revealed a wide clinical spectrum. The phenotype was variable in unrelated, age- and sex-matched patients with identical mutations, as well as in families. Four of the five missense mutations alter the GATA DNA-binding zinc finger, and six of the seven unrelated patients with these mutations may be classified as having TRPS III. Our data indicate that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.

Adolescent↗
PubMed1999

Glutaric aciduria type I: ultrasonographic demonstration of early signs.

BACKGROUND: Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed until the onset of irreversible neurological deficits. MATERIAL AND METHODS: We reviewed the clinical and imaging (US, CT and MRI) findings in six patients with proven GA-I and with emphasis on the early US findings. Coronal and sagittal US images of the brain were obtained through the anterior fontanelle in all patients. CT was obtained in three patients and MRI was obtained in two. RESULTS: Macrocephaly was found in all patients, being present in three children at birth or developing rapidly within the first weeks of life. US showed, in all patients, bilateral symmetrical cyst-like dilatation of the sylvian fissures. Progressive fronto-temporal atrophy developed within the first months. CT and MRI demonstrated fronto-temporal atrophy with lack of opercularisation in all cases and basal ganglia or periventricular hypodensities in three patients. CONCLUSIONS: In patients with macrocephaly at birth or rapidly developing within the first weeks of life, US should be performed as the primary imaging modality. Cyst-like bilateral widening of the sylvian fissures is the first sign of GA-I, followed by progressive fronto-temporal and ventricular enlargement. These patients should be screened for GA-I in order to initiate treatment in the asymptomatic stage.

Abnormalities, Multiple↗
PubMed1998

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

The hereditary deficiency of 3-hydroxy-3-methylglutaryl (HMG) CoA lyase (HL; OMIM 246450 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?246450]) results in episodes of hypoketotic hypoglycemia and coma and is reported to be frequent and clinically severe in Saudi Arabia. We found genetic diversity among nine Saudi HL-deficient probands: six were homozygous for the missense mutation R41Q, and two were homozygous for the frameshift mutation F305fs(-2). In 32 non-Saudi HL-deficient probands, we found three R41Q alleles and also discovered four other deleterious point mutations in codons 41 and 42: R41X, D42E, D42G, and D42H. In purified mutant recombinant HL, all four missense mutations in codons 41 and 42 cause a marked decrease in HL activity. We developed a screening procedure for HL missense mutations that yields residual activity at levels comparable to those obtained using purified HL peptides. Codons 41 and 42 are important for normal HL catalysis and account for a disproportionate 21 (26%) of 82 of mutant alleles in our group of HL-deficient probands.

Base Sequence↗
PubMed1997

The influence of growth hormone monotherapy and growth hormone in combination with oxandrolone or testosterone on thyroxid hormone parameters and thyroxine binding globulin in patients with Ullrich-Turner syndrome.

UNLABELLED: Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxandrolone-(Ox) or testosterone (T) treatment in 20 patients with Ullrich-Turner syndrome. During the 1st year the patients received only GH. There was no change in T4, fT4, and TSH levels, T3 increased significantly (P < 0.01) after 6 and 12 months, resulting in a higher T3/T4 ratio. TBG (P < 0.05) and IGF-I (P < 0.01) increased after 6 months and remained elevated at 12 months. A significant positive correlation was found between the change of T4 and TBG after 6 months (r = 0.47, P < 0.05) and after 12 months (r = 0.69, P < 0.005). Thirteen patients were further investigated after addition of an anabolic compound; 7 received Ox (0.0625 mg/kg/day po) and 6 low dose T (5 mg i.m. every 14 days). Chronological age was comparable in these groups (10.7 +/- 2.7 vs 10.7 +/- 3.6 years). After 6 months of combination therapy with Ox, T4, T3 and TSH decreased. As T4 and T3 showed a parallel decrease the T3/T4 ratio remained elevated. TBG declined after 6 and 12 months (P < 0.05), while IGF-I showed a further increment (P < 0.05). There was no correlation between the changes in T4 and IGF-I, TSH and TBG, respectively. In the T-treated group only IGF-I increased (P < 0.05) to the same extent as in the Ox-treated patients, whereas the thyroid parameters did not change. CONCLUSION: The observed changes in thyroid hormone and TBG levels in the Ox group were not mediated by GH or IGF-I. The Ox-induced TBG decrease might be linked to altered pancreatic functions regulating carbohydrate metabolism.

Adolescent↗
PubMed1997

Short- and long-term (final height) growth responses to growth hormone (GH) therapy in patients with Turner syndrome: correlation of growth response to stimulated GH levels, spontaneous GH secretion, and karyotype.

In 41 girls with Turner syndrome, the growth hormone (GH) peak values during stimulation tests and parameters of spontaneous nocturnal GH secretion were studied and compared with respect to different karyotypes, short-term growth response to GH therapy, and final height. 22.0% of the girls tested had a subnormal (peak < 11 ng/ml) and 9.7% a pathological (< 7 ng/ml) GH response. The spontaneous GH secretion showed a good correlation with the data of the provocation tests, providing no further information regarding GH capacity. Short-term growth response to GH treatment could not be predicted by any of the investigated parameters. Although patients with isochromosomes had frequent subnormal GH tests, their growth response to GH treatment after 1 year was comparable to that of girls with XO karyotype and mosaicism. In 18 patients who had reached final height, the height gain during treatment (calculated as final height minus projected adult height) was not different among patients with normal, subnormal, or pathological GH tests. In contrast, final height minus projected adult height in 4 girls with isochromosomes was 15.7 +/- 5.1 versus 7.6 +/- 3.3 cm in 14 patients with other karyotypes (p < 0.01). These girls had a more pronounced bone age delay (3.3 +/- 0.3 vs. 1.8 +/- 1.2 years) at the start of therapy and thus a better growth potential. We conclude that short- and long-term growth responses to GH treatment in Turner syndrome could not be predicted by GH testing. Patients with isochromosomes might represent a subpopulation which is more frequently GH deficient and shows a marked bone age delay.

Adolescent↗
PubMed1996

Insulin, insulin-like growth factor-binding protein-1, and sex hormone-binding globulin in patients with Turner's syndrome: course over age in untreated patients and effect of therapy with growth hormone alone and in combination with oxandrolone.

We have studied the course over age of fasting insulin, sex hormone-binding globulin (SHBG), and insulin-like growth factor (IGF)-binding protein-1 (IGFBP-1) in untreated children with Turner's syndrome (TS) and measured the course of these parameters during therapy with GH alone and in combination with oxandrolone. Forty patients with TS, aged 3.7-16.4 yr, were investigated before any therapy. Fasting insulin levels increased significantly with chronological age, whereas SHBG and IGFBP-1 decreased with chronological age, and serum concentrations of these parameters were in the normal range. SHBG and IGFBP-1 were not coregulated by insulin in TS as previously reported under physiological conditions; IGFBP-1 was inversely correlated with insulin, but SHBG was not, and neither parameter was correlated with the other. Twenty-eight patients were further investigated 3, 6, 9, and 12 months after the start of GH monotherapy (12-18 IU/m2-week) and 3, 6, 9, and 12 months after the addition of oxandrolone (0.0625 mg/kg.day; n = 16). There was a significant increase in insulin levels during GH monotherapy and a further increase during combination therapy, with peak levels 3 months after the start of GH and combination therapy, respectively. Both SHBG and IGFBP-1 levels decreased significantly during GH monotherapy, with a further dramatic decrease after the addition of oxandrolone. Levels of free testosterone were unaffected by both treatment regimens. IGFBP-1 was inversely correlated with insulin concentrations at all time points after the start of therapy. SHBG was inversely correlated with IGF-I concentrations, but showed no relation to insulin concentrations during GH monotherapy. In conclusion, there were no abnormalities in serum concentrations of insulin, SHBG, and IGFBP-1 in untreated patients that could help to explain the retarded growth in patients with TS. All effects of combined GH and oxandrolone therapy on endocrine parameters such as insulin, SHBG, IGFBP-1 and IGF-I mimic the endocrine pattern normally observed during the pubertal growth spurt. Our data confirm the importance of insulin in the regulation of IGFBP-1, but do not point to a coregulation of IGFBP-1 and SHBG by insulin in patients with TS.

Adolescent↗
PubMed1996

Growth hormone in combination with anabolic steroids in patients with Turner syndrome: effect on bone maturation and final height.

Twenty patients with Turner syndrome (CA 7.3-16.4 years) were treated with growth hormone (GH) alone (12-18 IU/m2/week) for 0.9-2.5 years. Subsequently, all patients received GH 18 IU/m2/week in combination with oxandrolone (Ox) (0.0625 mg/kg/day po) or low dose testosterone (5 mg every 2 weeks, i.m.). Ethinylestradiol (50 ng/kg/day po) was started with a bone age of 12.5 "years", and the dose was increased stepwise to 200 ng/kg/day during the next 18 months. Final height (FH) after 4-7.7 years of therapy was 152.9 +/- 3.5 cm (range 145.0-158.9 cm). When compared to projected adult height (PAH) at start of therapy (143.7 +/- 4.0, range 137.5-151.0 cm), the estimated benefit from therapy (FH minus PAH) is 9.3 +/- 4.9 cm (range 1.4-21.4 cm). The wide range in individual responses may be due to over- or underestimation of PAH before therapy due to variable delay in bone age at start of therapy. FH did not differ between starting therapy before 11.5 years (n = 9; 152.0 +/- 3.4 cm) and after the age of 11.5 years (n = 11; 153.7 +/- 3.6 cm), due to the fact that a better short-term response to therapy in the younger group of patients was compensated for by a faster progression in bone age. The good result in terms of final height may be due in part to the late start (BA 13.3 +/- 0.4 years; range 12.7-14.5 years) of estrogen therapy in low doses.

Age Determination by Skeleton↗
PubMed1995

Treatment of patients with Ullrich-Turner syndrome with conventional doses of growth hormone and the combination with testosterone or oxandrolone: effect on growth, IGF-I and IGFBP-3 concentrations.

UNLABELLED: Thirty-nine girls with Ullrich-Turner syndrome (UTS) (median age 9.5 years) were treated with growth hormone (GH) with either 12 or 18 IU/m2 per week for 12 months followed by combination therapy with either oxandrolone (Ox) (0.0625 mg/kg/day po) or low-dose testosterone (T) (5 mg in every 2 weeks). Growth velocity improved significantly after 12 IU/m2 per week (6.4 +/- 1.7 cm/year vs 4.0 +/- 1.3 cm/year, x +/- SD, P < 0.001) and 18 IU/m2 per week of GH (6.5 +/- 1.3 cm/year vs 4.5 +/- 1.4 cm/year, P < 0.001). Ox, but not T was effective in maintaining growth velocity during the 2nd year of therapy (6.9 +/- 1.3 vs 5.3 +/- 1.5 cm/year). Basal insulin-like growth factor-I (IGF-I) concentrations were in the lower normal range and increased significantly in patients treated with 18 IU/m2 per week (357 +/- 180 ng/ml vs 160 +/- 84 ng/ml) and 12 IU/m2 per week (273 +/- 121 ng/ml vs 140 +/- 77 ng/ml). IGF-I concentrations increased further after addition of Ox (533 +/- 124 ng/ml, P < 0.001) or T (458 +/- 158, P < 0.05). IGFBP-3 concentrations were in the upper normal range before therapy and increased only moderately in both GH dosage groups. However, IGF binding protein-3 (IGFBP-3) concentrations were not affected by additional Ox or T treatment. CONCLUSIONS: 1. Conventional GH doses are effective in increasing growth velocity in UTS, especially, when combined with Ox.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Determination by Skeleton↗
PubMed1992

Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study.

Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.

Amino Acids↗
PubMed1992

Spontaneous growth in Turner syndrome: evidence for a minor pubertal growth spurt.

Spontaneous growth of 141 untreated girls with Turner syndrome was analysed. Of the patients 25% were born prematurely; their weight and height were normal when compared to prematurely born healthy infants. However, birth weight and height was significantly retarded in Turner patients born at term. A curve for height and growth velocity for the age range 0-16 years was constructed with a sensitive statistical method. By use of a mathematical model equations were created for calculating z-scores and the related percentiles for the height of individual patients at given age. Median height of 18 untreated patients at 18 years was 143.8 cm. Analysis of growth velocity revealed a minor but significant growth spurt at the age of 12.5 years. This growth spurt was also detectable in patients without signs of spontaneous puberty and occurred later in patients with 45,X0 karyotype. Bone age progression was linear up to the age of 7.5 years and decelerated thereafter.

Adolescent↗
PubMed1992

Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

A patient with 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase, EC 4.1.3.4) deficiency presented consistently above-normal values of plasma amylase (EC 3.2.1.1). Activities measured were in the lower normal range in family members not proven heterozygotes and in the upper normal range in the proven heterozygotes. Heterozygosity was proven by intermediate HMG-CoA lyase activities determined in cultured fibroblasts and in lymphocytes in the parents and the paternal grandmother. Because all of the family members had diseases of the pancreas, colon, and liver, we question whether the heterozygote state contributes to the impaired function of these organs. Our findings of significantly increased amylase activities in the heterozygotes and the patient, in comparison with the other family members, support this hypothesis.

Amylases↗
PubMed1992

[Importance of genetic counseling in inborn errors of metabolism].

In genetic counselling a detailed history including the family tree and the collection of old and new data lead to a comprehensive knowledge of the illness of the patient. Nevertheless it is important that the metabolic disease is defined as exactly as possible. Enzymatic examinations and genetic diagnosis at the molecular level should be performed for optimal counselling. In descendants of consanguinic pairs the incidence of inborn errors of metabolism is increased. Although in most cases autosomal recessive inheritance gives a clear picture of the well-known risks for the offspring, the individual possibility exists that different alleles could combine to different genotypes with variable phenotypic expression. Loading tests for detecting heterozygotes have become less important with the introduction of probes.

Chromosome Aberrations↗
PubMed1992

[The status of afebrile infantile convulsions within the epilepsy spectrum--a follow-up of 55 patients].

In an earlier study we observed 411 patients with cerebral convulsions, 118 of whom had the first convulsion during the 1 year of life. Among these 118 children we found 76 with afebrile convulsions. In this study we present the development and outcome in 55 patients with afebrile convulsions in the 1 year of life which could be observed for some years, most of them up to the present. In 25 infants the fits started in the newborn period, and in 30 infants after the 1 month; they were divided into groups with and without risk factors in the history. Benign neonatal convulsions were found in about one-third of children, with a good prognosis. These convulsions are divided into a dominantly inherited but rarely observed form and idiopathic benign neonatal convulsions. In contrast, among the newborns with risk factors in the history we found only half with a positive development. The results in the 30 infants with convulsions after the 1 month were similar with respect to risk factors in the history of risks. The 15 infants without risks had a good prognosis. Only 3 patients had oligoepilepsy. However, in the 15 patients with risks only 3 developed normally, 6 had no fits, but were neurologically or mentally handicapped, and 7 had fits and disability. We believe that afebrile convulsions without risk factors after the 1 month could be considered a late manifestation of benign newborn convulsions.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain Damage, Chronic↗
PubMed1992

[Food-borne botulism in 2 brothers].

Two boys with symptoms of food borne botulism are presented. Confirmation of diagnosis relied on proof of toxin in the serum of both patients by the so called mouse neutralization test, whereas the EMG showed negative results. Both boys recovered fully without administration of equine antitoxin. Differential diagnosis and treatment of botulism are discussed. Signs of internal and external ophthalmoplegia, dry mouth, descending paralysis, obstipation with weakness, absence of fever and lucid sensorium as cardinal symptoms should always bring botulism to mind.

Botulinum Toxins↗