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Biomedical subjects

C Heinrichs

Publications and source records attributed to C Heinrichs.

At least 37 records · Page 2Linked to original sources
PubMed1998

[Infants born with development disorders. What about the long-term statural development? What are the therapeutic possibilities?].

Intrauterine growth retardation (IUGR), defined as birth weight and/or length less than 3rd percentile (P) or less than-2 standard deviations (SD), concerns about 3% of newborns. About 85% born IUGR show spontaneous postnatal catch-up to a height > P3 or > -2 SD during the first two years of life. After the age of 4 year, the children without catch-up will remain short up to final height. Classical growth hormone (GH) deficiency usually does not seem responsible for the absence of catch-up in those children. A two-year GH therapy at supraphysiological doses increases growth velocity. The effect of this treatment on final height remains to be studied, as well as optimal treatment's modalities. Attention should be paid on the possible side-effects. Finally, the evaluation of the psychological impact of GH treatment will be critical.

Body Height↗
PubMed1997

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Thyroid gland agenesis is the most common cause of congenital hypothyroidism and is usually sporadic. We investigated a brother and sister from consanguineous parents, ascertained through systematic newborn screening, and initially diagnosed with thyroid agenesis. Careful cervical ultrasonography in both patients revealed a very hypoplastic thyroid gland. By direct sequencing of the thyrotropin receptor gene, we identified the substitution of threonine in place of a highly conserved alanine at position 553, in the fourth predicted transmembrane domain. The mutation was found homozygous in the affected siblings, and heterozygous in both parents and two unaffected siblings. Functional analysis in transfected COS-7 cells showed that it resulted in extremely low expression at the cell surface as compared with the wild-type receptor, in spite of an apparently normal intracellular synthesis. The small amount of mutated receptor expressed at the surface of transfected cells bound thyrotropin with normal affinity and responded in terms of cAMP production, but the in vivo significance of these data from overexpressed receptor in transfected cells is unclear. Of note, blood thyroglobulin was unexpectedly elevated in the patients at the time of diagnosis, a finding that might prove useful in refining etiologies of congenital hypothyroidism.

Base Sequence↗
PubMed1997

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.

UNLABELLED: Two female siblings, born to consanguineous parents, presented with a similar phenotype characterized by severe growth and developmental failure, dysmorphic features, thyroid and gonadal dysfunction, autistic traits and hand stereotypes resembling Rett syndrome. In the elder patient, analysis of urinary organic acids disclosed a very high excretion of 5-oxoproline (4.2 to 8.1 mol/mol creatinine) and enzyme assays of leucocyte extracts revealed a profound deficiency of 5-oxoprolinase. However, normal urinary organic acid profiles were found in the younger child. In view of their distinct dysmorphic features and severe growth deficiency, these siblings cannot be considered as Rett Syndrome variants. The Dubowitz and carbohydrate-deficient glycoprotein syndromes were also excluded clinically and biochemically respectively. We conclude that these patients suffer from a hitherto undescribed autosomal recessive disorder, unrelated to the 5-oxoprolinase deficiency of the elder sib. CONCLUSION: The present findings give evidence that 5-oxoprolinase deficiency is not associated with a distinct morbid phenotype.

Brain Diseases↗
PubMed1997

[Comparison of different MRT techniques in the diagnosis of degenerative cartilage diseases. In vitro study of 50 joint specimens of the knee at T1.5].

PURPOSE: An experimental study was performed on joint specimens of the knee to assess the advantages and disadvantages of 14 generally available sequences in cartilage imaging. METHODS: Each of the 50 surgically exposed cadaveric joints of the knee was examined by the following sequences: T1, proton- and T2 weighted spin echo(SE) sequences, proton- and T2 weighted Turbo-SE, T1 weighted SE with fat suppression, MTC combined with T1-weighted SE and T2 weighted FLASH-2 D, STIR, FISP-3 D, FLASH-3 D (with fat suppression), and MR arthrography. We assessed the image quality by a scale, signal to noise-ratio of cartilage and joint fluid, and the accuracy in detection of cartilage lesions. Pathology and arthroscopy were reference methods to MRI, and demonstrated grade 1-4 lesions on 186 of 300 joint facettes. RESULTS: Advanced stages of cartilage lesions (65 grade 3 and 4 lesions) were detected by standard SE sequences in 67-94%. Application of volume techniques (FISP-3 D, FLASH-3 D), high definition matrix (512 pixel), MTC with FLASH-2 D and MR-arthrography improved the sensitivity up to 82-100%. Superficial lesions (65 grade 2 lesions) were demonstrated in 3-38%, and on MR arthrography in 45%. Structural changes (56 Grade 1 lesions) were recorded on MR) in only 10%. CONCLUSIONS: With regard to standard SE sequences, the detectability of cartilage lesions can be improved by techniques that use 512 matrices, selective cartilage imaging, and volume acquisition.

Aged↗
PubMed1997

Treatment of deep vein thrombosis with low-molecular-weight heparins: a consensus statement of the Gesellschaft für Thrombose-und Hämostaseforschung (GTH).

Recent studies have led to a new concept for the management of deep vein thrombosis. The German Society on Thrombosis and Haemostasis decided to work up the clinical studies in this field published until June 1996 for a consensus statement. The consensus group concluded that (1) high-dose, APTT-controlled subcutaneous administration of unfractionated heparin is as effective as high-dose, APTT-controlled continuous intravenous infusion of unfractionated heparin (grade B recommendation); (2) the anticoagulation with heparin may start at day 1 or 2, overlapping with oral anticoagulants for 7 to 10 days (grade C recommendation); (3) high-dose subcutaneous low-molecular-weight heparins are almost as effective and safe as continuous intravenous infusion of unfractionated heparins (grade B recommendation); (4) no agreement was obtained for the other concomitant treatments of DVT, such as duration of bed rest, use of antiphlogistic drugs, whether LMW heparins are comparable, and whether outpatient treatment can be recommended using LMW heparins.

Anticoagulants↗
PubMed1997

Longitudinal study of behavioral and affective patterns in girls with central precocious puberty during long-acting triptorelin therapy.

The aim of the present study was to evaluate the behavioral and affective characteristics and the changes in psychosocial functioning resulting from precocious puberty in 15 girls with central precocious puberty treated for 2 y using the GnRH agonist long-acting triptorelin, and in 5 untreated girls. After diagnosis of precocious puberty at 6.6-10.4 y of age, height, weight and pubertal development were evaluated at 3-month intervals over 2 y. Semi-structured interviews were carried out with the patient, the parents and the pediatric endocrinologists at 1, 8, 16 and 24 months after diagnosis. Standardized questionnaires (Child Behavior Checklist, Self-esteem Inventory) were administered at 1 and 24 months or 16 and 24 months, respectively. There was a mean 1.5-y delay between the observation of signs of puberty as reported by the parents and the diagnosis of precocious puberty at the first consultation of a pediatric endocrinologist. Before follow-up, all 20 girls were very concerned about physical differences from peers, particularly breast development. During therapy, breast regression to minimal or absent development occurred in 5/15 treated patients, who then no longer felt embarrassed about pubertal development in contrast to the other patients. Fear of sexuality remained obvious throughout the study in most patients. Feelings of loneliness and exemplary behavior were observed and tended to decrease in the treated patients and to increase in the untreated patients. Elevated scores of withdrawal, anxiety/depression and somatic complaints at Child Behavior Checklist were still observed after 2 y. These changes in behavioral and affective characteristics appeared to be related neither to height and weight, nor to development of pubic hair, which progressed in most patients. After 2 y, the physical differences remained a concern for 13 girls and the risk of short adult stature for 6. In summary, some behavioral and affective characteristics and particularities in psychosocial functioning are observed in girls with precocious puberty. During treatment with long acting triptorelin, problematic behavior and functioning decrease slightly, particularly in the few girls showing breast regression to minimal or absent development.

Affect↗
PubMed1997

Granulomatous gastritis in Wegener's disease: differentiation from Crohn's disease supported by a positive test for antineutrophil antibodies.

BACKGROUND: This report concerns the gastric manifestation of Wegener's granulomatosis in a 44 year old white female patient who initially presented with abdominal pain, vomiting, and iridocyclitis. FINDINGS: The clinical findings and the histopathological proof of granulomatous gastritis in the absence of necrotising vasculitis were initially considered to be indicative of a diagnosis of Crohn's disease showing isolated gastric involvement. A five month course of steroids resulted in temporary relief; thereafter the patient developed severe rhinitis with mucosal ulcerations. At this point biopsy of nasal mucosa disclosed the classic histopathological signs of Wegener's granulomatosis. A positive test for antineutrophil cytoplasmic antibodies (ANCAs) with a cytoplasmic pattern (c-ANCA) and antigenic specificity for proteinase 3 (PR-3) were found. The patient is in complete remission one year after diagnosis and treatment with steroids and cyclophosphamide. CONCLUSIONS: Wegener's granulomatosis can also involve the gastrointestinal tract. Granulomatous inflammation of the stomach, although a rare finding and non-specific, should include Wegener's disease in the differential diagnosis. The histological proof of necrotising vasculitis is dependent on the depth of the biopsy and therefore can be easily missed. Differential diagnosis can be clarified by ANCA testing.

Adult↗
PubMed1997

Effects of fasting on the growth plate: systemic and local mechanisms.

Inadequate caloric intake inhibits longitudinal bone growth. This study was designed to investigate the mechanisms responsible for this suppression of growth plate function, focusing on the roles of systemic and local insulin-like growth factor 1 (IGF-1). Five week-old male rabbits were fasted for 48 h. Fasting significantly decreased proximal tibial growth velocity and growth plate width (both proliferative and hypertrophic zones). During the fast, systemic IGF-1 production was down-regulated. Serum IGF-1 levels and hepatic IGF-1 messenger RNA (mRNA) levels decreased despite increased GH levels. Serum levels of GH binding protein (a circulating fragment of the GH receptor) and hepatic GH receptor mRNA levels were not significantly changed. In contrast, the local, growth plate IGF-1 system appeared to be up-regulated. Growth plate GH receptor mRNA and IGF-1 mRNA levels were both increased during fasting. We conclude that, in the rabbit, fasting induces a rapid depletion of growth plate chondrocytes and inhibition of longitudinal bone growth. These effects appear to be mediated by systemic endocrine mechanisms; circulating IGF-1 levels are diminished because of hepatic resistance to GH. In contrast, the local, paracrine IGF-1 system in growth plate does not appear to contribute to the growth inhibition but instead appears to be up-regulated by fasting.

Animals↗
PubMed1997

[Hypoglycemia in children].

In infants and children, the delicate equilibrium between glucose production and glucose utilization can easily be disrupted. This leads to hypoglycemia with the risk of brain damage. The symptoms of hypoglycemia are non specific, particularly in the infant and the young child. The definition, the pathophysiology and the different etiologies of hypoglycemia are discussed. An approach of the causes of the hypoglycemia is proposed, which depends crucially on concomitant determinations of some hormones such as insulin, cortisol and growth hormone, and metabolic factors such as ketotic bodies, at the time of hypoglycemia. Therapeutic aspects will also be briefly reviewed.

Brain Damage, Chronic↗
PubMed1996

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.

The triple A or Allgrove's syndrome (MIM*231550) is an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. Since its first description by Allgrove et al. (1978) more than 70 cases from all over the world have been reported. The syndrome manifests itself during the first decade of life with severe hypoglycaemic episodes which can cause sudden death. The frequent association with neurological disorders presenting as a mixed pattern of upper and lower motor neuropathy, sensory impairment, autonomic neuropathy and mental retardation may result in a severely disabling disease. As an additional feature some patients have hyperkeratosis of their palms and soles. We have performed a systematic genome linkage scan in eight triple A families of which three were consanguineous [including the large highly inbred kindred described by Moore et al. (1991)]. We obtained conclusive evidence for linkage of the triple A syndrome locus to markers on chromosome 12q13 (D12S368, theta max = 0, Zmax = 10.81) with no indication of genetic heterogeneity. Haplotype and multipoint analyses suggest that the gene is located on a chromosomal segment flanked by the markers D12S1629 and D12S312 which are 6 cM apart. This region harbors the type II keratin gene cluster, and potential candidate genes include SCN8A and HOXC genes.

Adrenal Insufficiency↗
PubMed1996

High-dose growth hormone treatment of short children born small for gestational age.

The effect of GH administration was evaluated over 2 yr in 50 short, prepubertal, non-GH deficient children born small for gestational age, who had been randomly allocated to a group receiving no treatment or daily sc GH treatment at a dose of 0.2 or 0.3 IU/kg. At the start of the study, mean age was 5.2 yr, bone age was 4.0 yr, height SDS was -3.5, height velocity SDS was -0.8, weight SDS was -2.7, and body mass index SDS was -1.9. Catch-up growth was observed in none of the untreated and all of the treated children. The response to GH treatment included a near doubling of growth velocity and of weight gain and a mean height increment of more than 2 SDS. GH treatment was associated with a distinct acceleration of bone maturation. The differences between the growth responses evoked by the two GH doses were minor. The prepubertal GH-induced catch-up growth was associated with elevated serum concentrations of insulin, insulin-like growth factor-I, insulin-like growth factor binding protein-3, and osteocalcin, whereas insulin-like growth factor-II levels remained unaltered. GH treatment was well tolerated. In conclusion, high-dose GH administration over 2 yr is emerging as a potential therapy to increase the short stature that results from insufficient catch-up growth in young children born small for gestational age. The long-term impact of this approach remains to be delineated.

Age Determination by Skeleton↗
PubMed1995

Medullary nephrocalcinosis in nephropathic cystinosis.

Children with nephropathic cystinosis excrete large amounts of calcium and phosphate due to renal tubular Fanconi syndrome, and also receive substantial supplements of phosphate and alkalinizing agents. Since these constitute risk factors for nephrocalcinosis, we evaluated 41 children age 2 months to 15 years with nephropathic cystinosis and good renal function by performing retroperitoneal ultrasound examinations in a blinded fashion. We also retrospectively analyzed parameters of calcium and phosphate metabolism representing 216 person-years of data on these children. Fifteen children had no evidence of medullary nephrocalcinosis, while 18 had mild nephrocalcinosis, and 8 severe nephrocalcinosis; 5 had renal stones. Mean urine calcium and phosphate concentrations increased from 1.47 mM and 5.30 mM, respectively, in children without nephrocalcinosis to 1.60 mM and 5.69 mM in children with mild nephrocalcinosis to 1.66 mM and 6.19 mM in children with severe nephrocalcinosis. Mean urine pH ranged from 7.5 to 8.1. The mean (+/- SD) age of the 26 patients with nephrocalcinosis was 9.4 +/- 3.8 years compared with 5.1 +/- 3.8 years for those without nephrocalcinosis (P < 0.005). Serum calcium, phosphate, vitamin D, and parathyroid hormone did not correlate with frequency or degree of nephrocalcinosis. We conclude that nephrocalcinosis frequently accompanies nephropathic cystinosis, can be detected by ultrasound examination, and might be managed by reducing oral replacement of phosphate, calcium, vitamin D, and citrate. Consideration should be given to truncating phosphate replacement once bone growth ceases.

Adolescent↗
PubMed1995

Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity.

UNLABELLED: The syndrome of familial adrenocorticotropin (ACTH) unresponsiveness is a rare form of primary adrenal insufficiency, usually without mineralocorticoid deficiency. It is characterized by elevated plasma ACTH concentrations and undetectable plasma cortisol levels not responding to exogenous ACTH. Alacrima and achalasia have also been occasionally associated with adrenal insufficiency (triple A syndrome). Pathogenetic mutations have been identified in the ACTH receptor gene in families with isolated familial ACTH unresponsiveness. Whether the ACTH receptor represents the locus of the defect for the triple A syndrome is not known. Here we report two siblings with familial ACTH unresponsiveness who were discrepant for skin pigmentation and mineralocorticoid function. In addition, achalasia and alacrima were documented only in the older sibling. The boy, studied at the age of 2 years, was hyperpigmented, in contrast to his normally pigmented sister, studied at the age of 9 years; basal plasma alpha-melanocyte stimulating hormone immunureactivity levels were 79 and 38 pg/ml, respectively (normal < 40 pg/ml). Furosemide-induced diuresis resulted in normal rises of plasma renin activity in both patients; however, plasma aldosterone levels increased only in the boy and not in his sister. Screening for abnormalities of the ACTH receptor gene by single strand conformation polymorphism analysis revealed no abnormality. Direct sequencing of the entire coding area of the ACTH receptor gene was also normal. CONCLUSION: The syndrome of familial ACTH unresponsiveness can vary clinically and biologically within the same family.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenal Gland Diseases↗
PubMed1994

[MRT of the knee in the follow-up of the plastic repair of the anterior cruciate ligament with autologous semitendinosus tendon].

In a prospective study, 153 MRI examinations were performed on 74 patients following reconstruction of a ruptured anterior cruciate ligament with a semitendinosus graft. MRI examinations were performed at three defined intervals (3 months, 4 to 12 months, and 1 to 2 years postoperatively), and the findings were compared to simultaneous clinical tests to define stability criteria. This permitted reliable assessment of the integrity of the ligament graft; in three cases we correctly diagnosed a ruptured graft. A well-defined tendon graft with recognizable fibrous structures correlated with a clinically stable ligament in 98% of the cases. Due to physiological transformation occurring from three months to one year postoperatively, that graft temporarily appears less distinct. Complete integration of the graft with full stability of the knee is visualized in the MRI scan as a tendon with low signal intensity. Postoperative complications and the desire to participate in sports activities are indications for MRI examination.

Adolescent↗
PubMed1994

Variations in pituitary-gonadal suppression during intranasal buserelin and intramuscular depot-triptorelin therapy for central precocious puberty. Belgian Study Group for Pediatric Endocrinology.

This study evaluated pubertal development, growth and pituitary-gonadal suppression in 21 patients with central precocious puberty treated with buserelin intranasally and switched after a mean of 2.1 yr to depot-triptorelin given im for 1 year. Arrest or regression of puberty was observed in 12 patients while progression of puberty during therapy was seen in 9 patients (6 on buserelin, 2 on triptorelin and 1 on both therapies). The increment in serum LH and FSH concentrations after sc injection of short-acting triptorelin was greater on buserelin than on triptorelin therapy, particularly in patients with evidence of progression of puberty. Height velocity during therapy showed a reduction which paralleled the decelerating phase of the normal pubertal growth spurt. The rate of bone maturation during therapy was inversely related to pretreatment bone age. Predicted final height showed marked individual variations which were inversely related to predicted adult height before therapy. These data indicate that differences in the nature and route of administration of Gn-RH agonist therapy for central precocious puberty can be of importance for inhibition of pituitary gonadotropin secretion and development of secondary sex characteristics. Height velocity and bone maturation are age-related and the change in predicted adult height depends on pretreatment level.

Administration, Intranasal↗
PubMed1994

Fetal hypopituitarism: perinatal endocrine and morphological studies in two cases.

We report two infants with congenital absence of the anterior pituitary gland, documented by magnetic resonance imaging (MRI) or autopsy. In cord plasma obtained at birth from both infants, prolactin (PRL), pituitary growth hormone (hGH), placental growth hormone (hPGH) and thyrotropin (TSH) were undetectable; cortisol was low; thyroxine (T4) was 31 nmol/l in one infant and 85 nmol/l in the other infant who had been treated prenatally with intra-amniotic L-T4 administration. In maternal plasma at birth, PRL, hPGH and T4 were normal and hGH was undetectable. These observations suggest that plasma hGH and PRL in the fetus are exclusively of fetal pituitary origin, hPGH is secreted into the maternal circulation and is not transferred to the fetus and fetal growth can be normal in the absence of hGH, hPGH and PRL in fetal plasma.

Female↗