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1.
In 7 patients (5 girls, 2 boys) with the EMG or Wiedemann-Beckwith syndrome, statural growth, bone age (BA), weight and pubertal development were studied longitudinally. Height was above the 90th percentile (%) for chronological age (CA) after age 2 years, reaching an average of 2.5 SD above the mean at or after puberty. Adult or attained height also exceeded significantly (P<0.015) parental (genetic) target height by 13.2 cm on the average. In one girl, adult height prognosis (190 cm) could be reduced to an adult height of 183 cm by high-dose estrogen treatment. In most children, growth velocity remained above the 90th % up to 4–6 years of age and normalized thereafter. In all patients studied, bone age was markedly advanced and particularly so during the first 4 years after birth. Weight was above the 90th–97th % during infancy and early childhood and remained there, appropriate or slightly subnormal for height, until adulthood, except for 3 girls who reached and maintained the 50th % during or after puberty. Spontaneous pubertal development occurred within normal limits for CA and around the 50th % for BA. Except for the marked bone age acceleration, the reason for the increased statural growth and adult height in patients with the EMG syndrome is still unknown. 相似文献
2.
BACKGROUND: The efficacy of compression therapy depends mainly on the exerted pressure and on the stiffness of the material. OBJECTIVE: To propose a simple method by which pressure and stiffness can be assessed in the individual patient. MATERIAL AND METHODS: Using a pressure transducer (Kikuhime small probe, MediTrade, Soro, Denmark) the sub-bandage pressure is measured on the medial aspect of the lower leg at the transition of the gastrocnemius muscle into the Achilles' tendon. The pressure difference between active standing and lying is defined as the static stiffness index (SSI). Results: The accuracy and precision of the probe are good. Unna boot bandages (Lohmann-Rauscher, Vienna, Austria) and multilayer short-stretch bandages show a significantly higher SSI than long-stretch bandages and round-knitted class II stockings. The SSI values are lower than 10 mm Hg for elastic, long-stretch material and higher than 10 mm Hg for inelastic, short-stretch material. CONCLUSION: In future compression trials, pressure and stiffness measured in vivo should be declared. 相似文献
3.
Rainer Pankau Carl-Joachim Partsch Johannes Funda Wolfgang Günther Sippell 《American journal of medical genetics. Part A》1992,43(3):513-516
We report on the hypothalamic-pituitary-gonadal function in 2 male infants with the Smith-Lemli-Opitz (SLO or RSH) syndrome. Both infants had abnormal external genitalia. Basal and LHRH stimulated plasma gonadotropins were normal for age (1 month). Plasma testosterone, androstenedione, and dehydroepiandrosterone sulfate were normal for age and sex. Some forms of congenital adrenal hyperplasia (17,20-desmolase deficiency, 17α-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency) were ruled out by hormonal studies. The endocrinological findings indicate a normal hypothalamic-pituitary-gonadal function and a normal adrenal steroid biosynthesis in these 2 patients. A partial androgen receptor defect causing the genital malformations seems possible in one patient. Whether 5α-reductase deficiency is the cause of the male pseudohermaphroditism in SLO syndrome remains the subject of future studies. © 1992 Wiley-Liss, Inc. 相似文献
4.
Rainer Pankau Carl-J. Partsch Anke Neblung Angela Gosch Armin Wessel 《American journal of medical genetics. Part A》1994,52(3):285-290
Head circumference is considered an important parameter of brain growth and development. Syndrome-specific standards for head circumference in Williams-Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (±SD) head circumference at birth was 33.39 ± 1.38 cm and 34.02 ± 1.44 cm for term girls and boys, respectively. Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5–2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 ± 1.75 cm (n = 16) compared to 55.70 ± 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 ± 1.68 cm (n = 30) compared to 57.87 ± 1.29 cm (n = 31; P < 0.00001) in WBS men. During development, microcephaly is only seen in about one third of WBS patients. © 1994 Wiley-Liss, Inc. 相似文献
5.
OBJECTIVE: The purpose of this randomized controlled trial was to evaluate the benefits of compression and walking exercises in comparison with bed rest in the acute stage of proximal deep venous thrombosis (DVT). METHODS: Forty-five patients with proximal DVT that was proved with compression ultrasound scan or phlebography were randomized into three groups. Group A consisted of 15 patients who received inelastic compression bandages (Unna boots on the lower leg, adhesive bandages on the thigh), and group B consisted of 15 patients who received thigh-length compression stockings, class II. Group C consisted of 15 patients who underwent bed rest and no compression. All patients received dalteparin, 200 IU/kg per body weight, subcutaneously every 24 hours. The clinical characteristics of the three groups were comparable. Primary end points were the reduction of pain assessed daily with the Visual Analogue Scale and the Lowenberg test, the reduction of leg circumference at the ankle and calf levels, and the improvement of clinical scores. The daily walking distance was measured with a pedometer. Safety parameters were ventilation-perfusion scans and duplex ultrasound scans performed on days 0 and 9. RESULTS: The daily walking distance was between 600 and 12,000 m in the compression groups and averaged 66 m in the bed rest group. The pain level showed a statistically significant reduction starting after the second day in the compression groups (A and B) and after 9 days in the bed rest group C (P <.05). The same was true for the measurement of leg circumference. Improvement of the clinical scores was significantly better in the compression groups compared with the bed rest group (P <.01). There was no significant difference concerning the occurrence of new pulmonary emboli and regression of thrombus diameter. Progression of thrombi in the femoral vein was greater and occurred more frequently in the bed rest group than in the other two groups (P = not significant). CONCLUSION: Mobile patients with acute proximal DVT treated with low molecular weight heparin should be encouraged to walk with compression bandages or medical compression stockings. The rate of resolution of pain and swelling is significantly faster when the patient ambulates with compression. The risk of pulmonary embolism is not significantly increased by this approach. 相似文献
6.
7.
8.
M. J. Fritsch M. Bauer C. J. Partsch W. G. Sippell H. M. Mehdorn 《Child's nervous system》2007,23(6):627-631
Objective Endoscopic third ventriculostomy (ETV) is a standard procedure for the treatment of obstructive hydrocephalus in children.
Main part of the procedure is the perforation of the third ventricle floor (tuber cinereum). This structure is part of the
hypothalamic–pituitary neuronal network of cerebral endocrine regulation. There are no systematic data available about the
endocrine status after ETV in children.
Materials and methods We examined 20 children who had undergone ETV. Examination included laboratory tests (adrenocorticotropic hormone, prolactin,
insulin-like growth factor 1 [IGF-1], IGF-binding protein 3 [IGFBP-3], fT3, fT4, thyroid-stimulating hormone [TSH], serum
osmolarity, electrolytes, glucose, urea, follicle-stimulating hormone [FSH] and luteinizing hormone [LH], and testosterone
in selected patients), measurement of weight, height, and head circumference, and physical examination. The study was approved
by the Ethics Committee of the Medical Faculty of Kiel University.
Results In seven patients, prolactin was moderately elevated. One patient demonstrated a significantly increased prolactin (56.3 ng/ml).
In all eight patients, this was the only laboratory value that was out of the normal range; all other parameters were normal.
Three other patients showed one abnormal parameter (decrease in FSH and LH, increase in TSH, decrease in IGF-1 and IGFBP-3).
In nine patients, weight or height was not within the 3rd to 97th centiles for age.
Discussion and conclusion More patients than expected demonstrated endocrine laboratory abnormalities. However, there was no clinical relevance in any
of the studied patients. It remains inconclusive whether ETV contributes to the abnormalities of prolactin levels or to other
endocrine parameters in pediatric patients. Longitudinal studies are necessary to delineate the effect of ETV on endocrine
regulation.
Presented at the Third World Conference of the International Study Group on Neuroendoscopy (ISGNE), Marburg, Germany, 15–18
June 2005. 相似文献
9.
10.
C J Partsch M Hermanussen W G Sippell 《The Journal of clinical endocrinology and metabolism》1985,60(6):1196-1203
It is not possible to differentiate reliably between male idiopathic hypothalamic hypogonadism (HH) and severe constitutional delay of puberty (CD) on the basis of a standard GnRH bolus test (GBT) or other known endocrine or clinical parameters. Therefore, we studied the response of 17 hypogonadal men, 8 with a diagnosis of HH (age, 15.5-41; bone age, 12.5-19 yr; testes, 1-4 ml) and 9 with CD (age, 14.5-20; bone age, 11-15 yr, testes, 2-10 ml) to pulsatile GnRH stimulation. Basal and peak LH and FSH levels after a single dose of GnRH greatly overlapped between the two groups. In each patient, a spontaneous nocturnal plasma profile of LH and FSH, sampled every 20 min, was followed by a pulsatile GnRH stimulation (5 micrograms iv every 90 min) via a portable minipump for 36 h. Before and after this pulsatile GnRH stimulation, a GBT (60 micrograms/m2 iv) was performed and plasma LH, FSH, testosterone, androstenedione, and dehydroepiandrosterone sulfate were measured. Pulse analysis revealed 0-5 spontaneous nocturnal LH peaks in the CD patients but only one in all of the HH patients. During the 36 h of pulsatile GnRH, mean LH and FSH levels were significantly higher (P less than 0.0001) than during the spontaneous nocturnal profile in all patients (except 1 from each group for LH). The GBT after pulsatile stimulation caused significantly higher (P less than 0.001) LH increments in CD than in HH patients, with no overlap between the two groups (range, 4.1-15.6 in CD vs. 0.8-2.4 mIU/ml in HH). Plasma testosterone rose significantly (P less than 0.01) during pulsatile GnRH from 67 to 155 ng/dl (median) in the CD men, but did not change in the HH group (21 to 22.5 ng/dl). Plasma androstenedione and dehydroepiandrosterone sulfate did not rise in either group. We conclude that, in contrast to other parameters investigated so far, the LH increment in the second GBT after 36 h of pulsatile GnRH allows clear-cut differentiation between CD and HH. These results indicate significantly lower pituitary LH reserve in patients with permanent HH after short term priming of the pituitary by pulsatile GnRH administration. 相似文献