Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    German Medical Science GMS Publishing House; Düsseldorf
    In:  60. Jahrestagung der Norddeutschen Gesellschaft für Kinder- und Jugendmedizin; 20110513-20110515; Braunschweig; DOC11ndgkjPO-36 /20110502/
    Publication Date: 2011-05-02
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    facet.materialart.
    Unknown
    German Medical Science GMS Publishing House; Düsseldorf
    In:  62. Jahrestagung der Norddeutschen Gesellschaft für Kinder- und Jugendmedizin (NDGKJ); 20130412-20130414; Hannover; DOC13ndgkj12 /20130410/
    Publication Date: 2013-04-11
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A patient with an interstitial deletion 13q14 is described who has decreased erythrocyte esterase D activity and who has not developed a retinoblastoma.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    ISSN: 1432-1076
    Keywords: Williams-Beuren syndrome ; Growth ; Puberty ; Bone maturation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The spontaneous growth of 165 patients (75 girls and 90 boys) with Williams-Beuren syndrome was analysed in a mixed longitudinal and cross-sectional manner. Mean (±1 SD) length at birth was 48.2±2.6 cm in girls (n=52) and 49.0±3.0 cm in boys (n=65). Intrauterine growth retardation (length below −2 SD of the normal population) was present in 35% of the girls and 22% of the boys. Poor growth was noted during the first 2 years of life. Until age 9 years in girls and 11 years in boys, mean growth followed the 3rd percentile. A pubertal growth spurt with normal growth rate was seen at age 10 years in girls and 13 years in boys, i.e. 1 to 2 years earlier than normal. Menarche also occurred earlier than normal at a mean age of 11.6±1.5 years (n=28). Mean adult height was 153.9±6.9 cm in girls (n=17) and 168.2±6.9 cm in boys (n=27), approximately corresponding to the 3rd percentile in both sexes and correlating with the genetic height potential (target height). The mean deficit of adult height compared to target height was 10.2 cm in girls and 9.1 cm in boys. Skeletal development progressed at an approximately normal rate in both sexes.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1432-1076
    Keywords: Key words     Chromosomal mosaicism ; Gonadal dysgenesis ; GnRH test ; Cell selection in vivo
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      A comparison has been made of a case with 45,X/46,XX/ 47,XXX mosaicism with some 50 cases in the literature. A significant positive correlation was found between height standard deviation scores of mosaic patients from the literature and the frequency of cells with a normal chromosome constitution (n = 21, r s = 0.552, P 〈 0.01). In contrast, a significant negative correlation was seen between body height and the frequency of cells with a 45,X constitution (n = 21, r s = –0.594, P 〈 0.01). There was no significant correlation of height standard deviation score with the 47,XXX cell line (n = 21, r s = –0.353). A patient with a rare chromosomal mosaicism (45,X/46,XX/ 47,XXX) is described. The diagnosis was first made by chromosome analysis in amniotic cells. The patient showed no symptoms suggestive of Turner syndrome and growth followed the 75th height percentile. Basal and gonadotropin-releasing hormone stimulated gonadotropin levels normalized after age 4.8 years and did not subsequently return to hypergonadotropic levels. In blood lymphocytes, there was an increase in the frequency of cells with a normal chromosome constitution over 9 years. This in vivo cell selection is discussed. Chromosome analysis in skin fibroblasts showed the same triple mosaicism with a similar distribution of cell lines as in blood lymphocytes. In conclusion, statistical evidence was demonstrated that the severity of short stature is correlated with the distribution of cell lines in 45,X/46,XX/47,XXX mosaicism. This finding is of importance for the genetic counselling in cases of prenatal diagnosis of mosaic Turner syndrome.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    ISSN: 1432-1076
    Keywords: Chromosomal mosaicism ; Gonadal dysgenesis GnRH test ; Cell selection in vivo
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A comparison has been made of a case with 45,X/46,XX/47,XXX mosaicism with some 50 cases in the literature. A significant positive correlation was found between height standard deviation scores of mosaic patients from the literature and the frequency of cells with a normal chromosome constitution (n=21,r s =0.552,P〈0.01). In contrast, a significant negative correlation was seen between body height and the frequency of cells with a 45,X constitution (n=21,r s =−0.594,P〈0.01). There was no significant correlation of height standard deviation score with the 47,XXX cell line (n=21,r s =−0.353). A patient with a rare chromosomal mosaicism (45,X/46,XX/47,XXX) is described. The diagnosis was first made by chromosome analysis in amniotic cells. The patient showed no symptoms suggestive of Turner syndrome and growth followed the 75th height percentile. Basal and gonadotropin-releasing hormone stimulated gonadotropin levels normalized after age 4.8 years and did not subsequently return to hypergonadotropic levels. In blood lymphocytes, there was an increase in the frequency of cells with a normal chromosome constitution over 9 years. This in vivo cell selection is discussed. Chromosome analysis in skin fibroblasts showed the same triple mosaicism with a similar distribution of cell lines as in blood lymphocytes. In conclusion, statistical evidence was demonstrated that the severity of short stature is correlated with the distribution of cell lines in 45,X/46,XX/47,XXX mosaicism. This finding is of importance for the genetic counselling in cases of prenatal diagnosis of mosaic Turner syndrome.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 7
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Williams-Beuren-Syndrom ; Entwicklungsverzögerung ; Nierenfehlbildung ; Herzfehler ; Kleinwuchs ; Key words Williams-Beuren syndrome ; Mental retardation ; Renal malformation ; Congenital heart defect ; Short stature
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Williams-Beuren syndrome is a multiple malformation syndrome with autosomal dominant inheritance and variable expression. Characteristic symptoms are congenital heart defects (typically supravalvular aortic stenosis in combination with peripheral pulmonary stenoses), primary psychomental retardation, distinct facial features, malformations of the kidney or urinary tract, failure to thrive and gastrointestinal symptoms in infancy and early childhood, and short stature (50% of patients). We report on a young man with Williams-Beuren syndrome in whom the dignosis was made late at the age of 24 years. During infancy poor suckling and recurrent vomiting were noted. Psychomental development was retarded. The patient showed a hypersensitivity to noise and music. Renal scarring was seen on the right side and a duplicated ureter on the left. Surgical antireflux treatment was performed at age 12 years. The patient attended a school for mentally handicapped children and is now working with an institutionalized group. At the age of 24 the typical facial features of an adult with Williams-Beuren syndrome were seen, but no congenital heart defect. By molecular genetic analysis we demonstrated hemizygosity for the elastin locus and thus confirmed the clinical diagnosis of Williams-Beuren syndrome. Discussion: This observation demonstrates that the diagnosis of Williams-Beuren syndrome may be markedly delayed in the absence of a cardiovascular defect. The combination of typical craniofacial signs, primary mental and psychomotor retardation, poor suckling and gastrointestinal symptoms in infancy and early childhood, and malformations of the kidneys and/or the urinary tract should prompt consideration of Williams-Beuren syndrome.
    Notes: Zusammenfassung Das Williams-Beuren-Syndrom wird mit variabler Expressivität autosomal-dominant vererbt. Es ist charakterisiert durch den typischen Herzfehler, die supravalvuläre Aortenstenose, welche häufig mit peripheren Pulmonalstenosen kombiniert ist. Weitere charakteristische Symptome sind die primäre psychomentale Retardierung, die typische kraniofaziale Dysmorphie und Fehlbildungen der Nieren oder ableitenden Harnwege. Im Säuglings- und Kleinkindesalter treten Gedeihstörung sowie gastrointestinale Auffälligkeiten wie rezidivierendes Erbrechen und Durchfälle auf. 50% der Patienten sind kleinwüchsig. Wir berichten über einen jungen Mann mit Williams-Beuren-Syndrom, bei dem diese Diagnose erst im Alter von 24 Jahren gestellt wurde. In der Säuglingszeit bestanden Trinkschwäche und rezidivierendes Erbrechen. Die psychomentale Entwicklung verlief primär verzögert. Anamnestisch wurde von einer ausgeprägten Geräuschempfindlichkeit und einem guten Musikempfinden berichtet. Es bestehen eine Schrumpfniere rechts und ein gedoppeltes Nierenbecken links. Im Alter von 12 Jahren wurde eine Antirefluxplastik durchgeführt. Der Patient besuchte die Sonderschule L und arbeitet jetzt in einer beschützenden Werkstatt. Mit 24 Jahren zeigte der Patient die charakterisitische kraniofaziale Dysmorphie eines Erwachsenen mit Williams-Beuren-Syndrom. Ferner fiel sein für das Syndrom typisches freundlich zugewandtes Verhalten auf. Eine primäre kardiovaskuläre Fehlbildung konnte allerdings ausgeschlossen werden. Die Diagnose wurde durch den molekulargenetischen Nachweis der Hemizygotie für den Elastinlocus bestätigt. Diskussion: Dieser Fall belegt eindrücklich, daß die Diagnosestellung bei Patienten mit Williams-Beuren-Syndrom, die nicht den typischen Herzfehler aufweisen, trotz einer ansonsten pathognomonischen Befundkonstellation stark verzögert sein kann. Die Kombination aus typischer kraniofazialer Dysmorphie, primärer statomotorischer und mentaler Retardierung, unerklärter Trinkschwäche und rezidivierendem Erbrechen mit Gedeihstörung sollte auch ohne zusätzliche Fehlbildungen im Bereich von Nieren und ableitenden Harnwegen an die Diagnose Williams-Beuren-Syndrom denken lassen.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Chromosom-4p ; -Syndrom ; Mikrozephalie ; Wachstumsretardierung ; Key words Chromosome-4p ; -syndrome ; Microcephaly ; Growth retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We report on two patients with Wolf-Hirschhorn-syndrome. They showed characteristic clinical features including microcephaly, hypertelorism, cleft palate, cardiac and renal defects, hypospadia and developmental retardation. Diskussion: They represent an example of the variability of clinical symptoms seen in Wolf-Hirschhorn-syndrome. In both patients the diagnosis was confirmed by conventional cytogenetic methods.
    Notes: Zusammenfassung Wir berichten über 2 Patienten, die für das Wolf-Hirschhorn-Syndrom (Chromosom-4p–-Syndrom) charakteristische Symptome, wie Mikrozephalie, Hypertelorismus, Lippen-Kiefer-Gaumen-Spalte, Vitium cordis, Nierenfehlbildung, Hypospadie und psychomotorische Retardierung aufweisen. Sie stellen ein Beispiel für die beim Chromosom 4p beschriebene Variabilität der klinischen Symptomatik dar. Diskussion: Bei beiden Patienten konnte mit konventionellen zytogenetischen Methoden die Diagnose gesichert werden.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Monatsschrift Kinderheilkunde 148 (2000), S. 496-497 
    ISSN: 1433-0474
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    ISSN: 1435-1285
    Keywords: Key words Williams-Beuren syndrome — hypertension — ambulatory blood pressure monitoring — prevalence of hypertension — blood pressure ; Schlüsselwörter Williams-Beuren-Syndrom — arterielle Hypertension — Prävalenz — 24-h-Blutdruckmessung — Blutdruck
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The prevalence of hypertension and the diurnal blood pressure pattern were investigated in patients with Williams-Beuren syndrome (WBS) by blood pressure measurements in 142 children, adolescents, and young adults (female n = 62, male n = 80; median age 6.5 years (0.1–34.3 years)) and evaluation of ambulatory blood pressure data from 45 patients (female n = 21, male n = 24; median age 7.8 years)). Measurements revealed systolic hypertension in 46.5% of 142 patients, diastolic hypertension occurred in 36.6% (i.e. actual pressure 〉 95 percentile). According to the ambulatory data 42.2% of 45 patients had hypertension (mean arterial pressure 〉 normal + 2SD). The nocturnal decline of the blood pressure was normal in hypertensive patients but reduced in normotensives (p 〈 0.01 vs. normals). Males were more often hypertensive than females (46% vs 38%). Hypertensives had a higher body mass index than normotensives (19.5 vs 16.6 kg/m2, p 〈 0.05). In normo- and hypertensive WBS patients mean heart rates were elevated during day- and nighttime (p 〈 0.02 vs normals) the latter due to a reduced nocturnal decline. The prevalence of hypertension in WBS patients amounts to about 40% thus being four- to eight-fold in comparison to healthy young adults or children. The diurnal blood pressure pattern and the elevated heart rates indicate that an increased arterial stiffness due to the vascular disease in the WBS and augmented sympathetic activity might play a role in the genesis of hypertension. Thus, effective antihypertensive treatment is likely to become difficult. From our experience betablocking agents are often successful in hypertensive WBS patients.
    Notes: Zusammenfassung Die Prävalenz der arteriellen Hypertension und das Blutdruckverhalten bei Patienten mit Williams-Beuren-Syndrom (WBS), einem Retardierungssyndrom mit typischen kardiovaskulären Fehlbildungen, ist unbekannt. Durch die retrospektive Analyse von Gelegenheitsblutdruckmessungen bei n = 142 Kindern, Jugendlichen und jungen Erwachsenen mit einem WBS (weiblich n = 62, männlich n = 80; Alter 0,1–34,3 Jahre, Median 6,5 Jahre) sowie durch die Auswertung von Langzeitblutdruckmessungen bei n = 45 Patienten (weiblich n = 21, männlich n = 24; Alter 1–23,8 Jahre, Median 7,8 Jahre) sollte die Häufigkeit einer arteriellen Hypertension und das zirkadiane Blutdruckverhalten dieser Patienten ermittelt werden. Die Gelegenheitsmessungen zeigten bei 46,5% der Patienten eine systolische und bei 36,6% der Patienten eine diastolische Hypertension (d.h. Meßwerte 〉 95er Perzentile altersbezogener Normwerte). Nach den arteriellen Mitteldruckwerten der 24-h-Blutdruckmessumg waren 42,2% hypertensiv (d.h. Mittelwert 〉 Norm + 2SD). Der nächtiliche Abfall des systolischen, diastolischen und mittleren Blutdrucks war bei den Hypertonikern normal und bei den Normotonikern vermindert (p 〈 0,01 vs. Gesunde), so daß im Mittel bei allen Patienten eine nächtliche Hypertension vorlag. Das männliche Geschlecht war häufiger hypertensiv als das weibliche (46% vs. 38%). Der Body Mass Index der Hypertoniker war höher als der der Normotoniker (p 〈 0,05). Die Herzfrequenz war bei im Mittel bei allen Patienten tags wie nachts zu hoch (p 〈 0,02 vs. Gesunde), letzteres weil der nächtliche Frequenzabfall im Mittel vermindert war (p 〈 0,01 vs. Gesunde). Die Prävalenz der arteriellen Hypertension beim WBS beträgt etwa 40% und ist damit 8- bis 4mal höher als bei gesunden Kindern bzw. jungen Erwachsenen. Das zirkadiane Blutdruckverhalten und die erhöhten Herzfrequenzen weisen darauf hin, daß sowohl eine erhöhte Arteriensteifheit, die syndromtypisch ist, als auch ein gesteigerter Sympathikotonus als Teilursache der Hypertension in Frage kommen. Deshalb ist die effektive Therapie der Hypertension beim WBS schwierig. Nach eigener Erfahrung können aber Betablocker oft erfolgreich eingesetzt werden.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...