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Biomedical subjects

F Haverkamp

Publications and source records attributed to F Haverkamp.

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

'Short stature in children--a questionnaire for parents': a new instrument for growth disorder-specific psychosocial adaptation in children.

Recent studies report comparable psychosocial adaptation in children with or without a growth disorder. These findings may be due to a general lack of sensitive and specific techniques for analysing and comparing their respective qualities of life. In this study we present a new questionnaire for parents of short-statured children. We suggest both a qualitative and quantitative approach providing specific information about the relative extent of individual stress factors and sources of help. The parents of 442 children with growth retardation resulting from different aetiologies completed the questionnaire. A principal component analysis of the scaled items revealed four dimensions of psychosocial adaptation; suffering, future anxieties, behavioural problems and coping efforts. The index of internal consistency reliability was sufficient for all scales. The comparison of two selected growth disorder groups (achondroplasia versus growth hormone deficiency) demonstrated growth disorder-specific but not very different profiles of psychosocial adaptation. The qualitative analysis revealed a shift in the stress factor patterns (achondroplasia, more physical restrictions). These findings give evidence for both the specificity and construct validity of the new instrument. Therefore, we may conclude that this questionnaire is a helpful method in attaining growth disorder-specific information about individual stress factors, resources and psychosocial adaptation.

Adaptation, Psychological↗
PubMed1997

Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.

Partial trisomy 6p is regarded as a distinct phenotype with short stature, failure to thrive, facial dysmorphisms with blepharophimosis, mental retardation and other malformations. An 18-month-old girl with typical features of partial trisomy 6p showed a de novo unbalanced translocation resulting in partial trisomy 6p21 to pter and partial monosomy 18p11 to pter. The translocation was observed in all fibroblasts analyzed, but only in 6% of the peripheral lymphocytes.

Abnormalities, Multiple↗
PubMed1996

Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

The case of a 9-month-old girl with glutaric aciduria type 1 (GA 1) is reported. On initial presentation at 6 months of age, the patient demonstrated bilateral subdural hemorrhages and widening of the basal cisterns. After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder. Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well. Because of a suspected metabolic disorder, urinary analysis of organic acids was performed. This repeatedly showed marked excretion of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid, indicating a diagnosis of GA 1. Considering our patient's history, we recommend the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction.

We report on a 2-year-9-month-old boy with the typical features of craniometaphyseal dysplasia with hyperostosis and sclerosis of the cranial vault and mild splaying of the metaphyses. The boy already presented during the neonatal period with the unusual clinical picture of breathing and feeding problems due to severely enlarged and ossified inferior nasal conchae causing obstruction of the nasal lumen.

Age of Onset↗
PubMed1995

[Value of turbo-spin-echo sequences in cerebral magnetic resonance tomography in children].

AIM: The value of turbo-spin-echo (TSE) sequences was compared with conventional spin-echo (SE) and inversion-recovery (IR) sequences for cerebral MRT in 70 children at 0.5 T and 1.5 T. In addition we evaluated whether proton weighted sequences (PD) were diagnostically important and in what proportion of cases. METHOD: Conventional T1 and T2 weighted SE and T2 weighted TSE sequences were used in all children. An IR sequence was performed in 39 patients. The various sequences were analysed semiquantitatively with regard to image quality, artifacts and the demonstration of normal and anatomical structures and pathological findings. RESULTS: By any criteria, TSE sequences were superior to conventional T2 weighted SE sequences at 0.5T and 1.5 T, requiring a shorter examination time (35-53%). In 8.6% the pathological finding was best seen on PD-SE sequences (5 glial scars, 1 tumor). CONCLUSION: Although TSE sequences are better than T2 SE sequences with regard to image quality and the demonstration of abnormalities, conventional double-echo SE sequences (with PD and T2 weighted images) cannot be entirely replaced by T2 weighted TSE sequences in children.

Adolescent↗
PubMed1995

Familial schizencephaly: further delineation of a rare disorder.

We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.

Brain↗
PubMed1991

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

Abnormalities, Multiple↗
PubMed1991

Constitutional delay of growth and puberty: do they really reach their target height?

We compared the final adult height (FH) of patients with classic constitutional delay of growth and puberty with their target height (TH) and with the height prediction by the Bayley-Pinneau method (BP). 20 patients and their parents were included in our study: 6 females (mean age 19.1 years) and 14 males (mean age 20.6 years). No significant difference could be detected between TH, FH and BP prognosis. This is in contrast to recent studies using height data partly obtained by self-estimation. We measured our patients and their parents ourselves and were accurately able to calculate their genetically determined TH. This proceeding could explain our results. Our study shows that adolescents with true constitutional delay do not need treatment and that height prediction seems to be accurate.

Adolescent↗
PubMed1990

The effect of cyproheptadine on plasma growth hormone (GH) and on somatostatin response to GH-releasing hormone in man.

Cyproheptadine (CPH)--a putative serotonin antagonist--is known to inhibit growth hormone (GH) response to various pharmacological stimuli, as well as during sleep. To elucidate the possible site at which this drug takes effect, we examined plasma GH and somatostatin response to i.v. GHRH1-44 (1 microgram/kg body wt.) before and after CPH treatment in 10 healthy volunteers. The oral administration of CPH (8-12 mg daily for 5 days; total dose 56 mg) significantly curbed GH response to GHRH as expressed in peak plasma GH values (32.0 +/- 6.1 micrograms/l vs. 12.6 +/- 3.2 micrograms/l; P less than 0.01) and in integrated GH response area (2368 +/- 517 micrograms x l-1 x 2 h vs. 744 +/- 172 micrograms x l-1 x 2 h; P less than 0.01). Plasma somatostatin levels did not change in response to GHRH.

Administration, Oral↗
PubMed1990

[Pregnancy in Crohn disease and ulcerative colitis. Maternal and fetal risks].

Familial occurrence in chronic inflammatory bowel disease is well established. Recurrence risks for first degree relatives range from 1 to 5%. A pregnancy is usually not negatively influenced by the disease. The risks for miscarriages are slightly increased, if conception takes place during periods of inflammatory activity. In the case of first manifestation during pregnancy, however, mother and child are exposed to increased risks. The course of the disease is usually not negatively influenced by pregnancy. The rate of relapse is similar to that of comparable samples without pregnancy. In women with an active disease, the prognosis is considerably poorer. The risk to children as a result of drug therapy can be regarded as low. Family planning, pregnancy and birth entail an increased psychological demand, which, in turn, necessitates specific therapy in some cases.

Colitis, Ulcerative↗
PubMed1990

[Listeria meningoencephalitis in a 2-year-old boy].

We report the unusual case of a two year old boy with encephalomeningitis caused by Listeria monocytogenes. The patient was hospitalized with the classical signs of severe bacterial meningitis. The microbiological investigations gave proof of Listeria monocytogenes as causative agent 36 hours later. Antibiotic treatment with ampicillin and gentamicin resulted in a prompt improvement of the boy's condition. The boy was discharged four weeks later.

Anti-Bacterial Agents↗
PubMed1989

[Megacystis microcolon intestinal hypoperistalsis syndrome: A neuropathy?].

2 cases of megacystis microcolon intestinal hypoperistalsis are presented. A female newborn was capable of being fed completely enterally after three months. Laparotomy was not performed. A male newborn was subjected to laparotomy after 3 days and an ileal stoma was applied. The infant died after 6 months of complete parenteral feeding without any peristalsis having been initiated. Biopsies of the colon and small intestine of the patient showed normal HE staining findings. Histochemical examination revealed type B neuronal dysplasia with neuronal hypogenesis. The findings of 27 cases described in the literature are discussed with special reference to the histological findings of the intestinal wall.

Chronic Disease↗