[A case of X/X translocation: t(X;X) (q26;p11)].

Abstract:

:An eight-year old girl showing a X/X-translocation (45,X/46,Xt(X;X)(q26;p11)) is presented. Besides short stature and congenital heart-anomaly no other phenotypical abnormalities were present. In all cells containing the abnormal X-chromosome, the latter was late labeling as shown by autoradiography and BrdU-labeling.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Wagenbichler P,Frisch H,Schnedl W

subject

Has Abstract

pub_date

1975-11-01 00:00:00

pages

533-7

issue

6

eissn

0300-8630

issn

1439-3824

journal_volume

187

pub_type

杂志文章
  • [Potential coulometry, a new methodology for the determination of iron concentration in serum. Comparison with the bathophenanthroline method in protein-free solution (author's transl)].

    abstract::Iron concentration was determined by the aid of the ESA Ferrochem 3050 analyzer and the bathophenanthroline method with deproteinization. Both methods showed a good precision and accuracy. The investigation was carried out in 505 sera with an iron concentration between 9 and 333 micrograms/dl. The comparison of the tw...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033773

    authors: Liappis N

    更新日期:1982-01-01 00:00:00

  • [What is a Sufficient Blood Pressure in the Preterm Newborn?].

    abstract::Hypotension is diagnosed in a high percentage of very low birth weight infants, particularly in the first 24 hours after birth and the resultant clinical approach is to support the blood pressure vigorously. However, the research base is not yet available to give a definite answer to the question, which blood pressure...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2003-36890

    authors: Stopfkuchen H

    更新日期:2003-01-01 00:00:00

  • [Sonography of the larynx in children. New perspectives due to the use of computerized sonography: 2: Sonographic findings in a case of laryngeal papillomatosis].

    abstract::On our opinion one important indication for sonographic diagnosis in future are masses in the larynx area: in infancy or childhood mainly laryngeal papillomatosis. In one of our boy patients with massive laryngeal papillomatosis laser surgery was first performed at 15 months of age. After a second and third procedure ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025304

    authors: Grunert D,Schöning M,Stier B,Klingebiel T

    更新日期:1989-05-01 00:00:00

  • Design, implementation, and evaluation of a mobile application for patient empowerment and management of long-term follow-up after childhood cancer.

    abstract::In Germany, about 1,800 new cases of childhood cancer are diagnosed every year. The chances of survival have increased significantly over the last 40 years due to the continuous improvement of treatment strategies. The number of childhood cancer survivors in Germany thus ranges around 30,000 nowadays. But their treatm...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0035-1548840

    authors: Kock AK,Kaya RS,Müller C,Andersen B,Langer T,Ingenerf J

    更新日期:2015-05-01 00:00:00

  • Reduced expression and defective modulation of TNF receptor/ligand family molecules on proB-ALL blasts.

    abstract:BACKGROUND:There is a subgroup of pediatric patients with an immature immunophenotype of proB-ALL that still poses a therapeutic challenge, even if the overall prognosis in B cell precursor acute lymphoblasic leukemia (BCP-ALL) is very good. Due to impaired treatment response these patients are prone to suffer relapse ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0028-1086028

    authors: Troeger A,Glouchkova L,Escherich G,Siepermann M,Hanenberg H,Janka-Schaub G,Göbel U,Ackermann B,Dilloo D

    更新日期:2008-11-01 00:00:00

  • [Progressive combined immunity defect with ectomesodermal dysplasia (author's transl)].

    abstract::A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Tympner KD,Belohradsky B,Eife R,Klose PK

    更新日期:1978-11-01 00:00:00

  • [Lead poisoning in childhood: a silent epidemic in the slums of the United States (author's transl)].

    abstract::While leadpoisoning has been with mankind since the dawn of civilization, only in recent years this disease was recognized as a serious public health problem. It has been estimated that more than half a million children are suffering from lead intoxication in the U.S.A. In most instances this disease is caused by eati...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Püschel SM

    更新日期:1975-09-01 00:00:00

  • [Visceral leishmaniasis (Kala-Azar) in a 3-year-old German infant (author's transl)].

    abstract::The article reports on a case of visceral leishmaniasis in a 3-year-old child of German residents in Rome who had passed two vacations on the isle of Ischia. Initial signs were intermittent temperatures, marked anorexia, hepatosplenomegaly and pancytopenia, with spontaneous recovery after three weeks. At that time, le...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Wittermann C,Bienzle U,Betke K

    更新日期:1979-05-01 00:00:00

  • [Measuring accuracy of commercial respiratory function equipment and ventilation monitors for newborn infants].

    abstract::Reliability and accuracy of the measured ventilatory and lung mechanical parameters of different diagnostic systems (SensorMedics 2600, Med-Science RDS 4500) and respiratory monitoring systems (BI-CORE CP-100, monitor of Babylog 8000) were investigated using a mechanical lung model. The accuracy of pressure and volume...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1046597

    authors: Hauschild M,Schmalisch G,Wauer RR

    更新日期:1994-05-01 00:00:00

  • [Treatment of the Ehlers-Danlos syndrome with zinc (author's transl)].

    abstract::Oral administration of zinc sulfate did not improve the clinical conditions in two patients with Ehlers-Danlos-Syndrome type I. Zinc levels in serum and hair were normal before and during treatment. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Lenard HG,Lombeck I

    更新日期:1979-11-01 00:00:00

  • [Therapy of choroid plexus carcinoma in childhood. Case report and review of the literature].

    abstract::Carcinomas of the plexus choroideus (PCC) represent the rare malignant variety of plexus choroideus papillomas and take a particularly unfavourable course. Tumors of the plexus choroideus account for about 2-4% of all primary brain tumors in children and 0.5% of those in adults. The PCC is more frequent in children th...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1046511

    authors: Peschgens T,Stollbrink-Peschgens C,Mertens R,Völker A,Thron A,Heimann G

    更新日期:1995-03-01 00:00:00

  • Radio-immunodetection of myosarcoma using 111indium antimyosin.

    abstract::Radio-labelled antimyosin-monoclonal antibodies (AMA) have been introduced to demonstrate myocardial necrosis after cardiac infarction or in cardiac allograft transplants. As rhabdomyosarcoma (RMS) and leiomyosarcoma (LMS) are tumors of myogenic origin, thus often containing myosin, we decided to use the 111In-labelle...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025525

    authors: Koscielniak E,Reuland P,Schilling F,Feine U,Treuner J

    更新日期:1990-07-01 00:00:00

  • [Whole-body-CT in Severely Injured Children. Results of Retrospective, Multicenter Study with Patients from the TraumaRegsiter DGU®].

    abstract:BACKGROUND:A fast and comprehensive diagnostic by means of whole-body CT has been shown to reduce mortality in the adult trauma population. Therefore whole-body CT seems to be the standard in adult trauma-patients. Due to the higher radiation exposure of whole-body CT the use of this diagnostic toll in pediatric trauma...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-0035-1547311

    authors: Hilbert-Carius P,Hofmann GO,Lefering R,Stuttmann R,Bucher M,Goebel P,Gronwald GH

    更新日期:2015-07-01 00:00:00

  • [Purulent pericarditis during abscess-forming pneumonia].

    abstract::The case is described of a 6 months old infant who developed purulent pericarditis during the course of pneumonia. Pericarditis probably developed in this condition by contiguous spread from the pleura. Diagnosis of impending cardiac tamponade was masked by the occurrence of massive unilateral empyema. The management ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033831

    authors: Beitzke A,Trittenwein G,Rigler B,Grubbauer HM,Suppan C

    更新日期:1982-09-01 00:00:00

  • [Tumor markers and endocrinologic aspects in intracranial germinoma].

    abstract::This report outlines the endocrine abnormalities associated with intracranial germinoma in childhood. The presence of special tumoral markers as alpha 1-fetoprotein and beta-HCG could be of diagnostic value and is important in respect to therapy control. However the reported case shows that despite known radiosensitiv...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033927

    authors: Andler W,Horstmann W,Distelmeier PM

    更新日期:1985-01-01 00:00:00

  • Diagnosis and Treatment of Nasopharyngeal Carcinoma in Children and Adolescents - Recommendations of the GPOH-NPC Study Group.

    abstract::Nasopharyngeal carcinoma (NPC) is a rare malignant tumor arising from epithelial cells of the nasopharynx. Its incidence is highest in Southeast Asia. Age distribution of NPC is bimodal, with one peak in young adolescents and another in patients 55-59 years of age. EBV appears to be the primary etiologic agent in the ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-0041-111180

    authors: Kontny U,Franzen S,Behrends U,Bührlen M,Christiansen H,Delecluse H,Eble M,Feuchtinger T,Gademann G,Granzen B,Kratz CP,Lassay L,Leuschner I,Mottaghy FM,Schmitt C,Staatz G,Timmermann B,Vorwerk P,Wilop S,Wolff HA,Mer

    更新日期:2016-04-01 00:00:00

  • [Arteriovenous intracranial and extracranial angiomas in infants and children (author's transl)].

    abstract::Five patients with arteriovenous angiomas in the head (2 galea angiomas, 1 mixed form with extracranial and intracranial localization of the arteriovenous fistulas and 2 intracranial arteriovenous fistulas) were described. Four patients were examined as newborns or infants. Oximetric data, intracardial pressure and ci...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Pohl V

    更新日期:1976-05-01 00:00:00

  • A Case of Hemophagocytic Lymphohistiocytosis following Refractory Kawasaki Disease.

    abstract::Hemophagocytic lymphohistiocytosis (HLH) is a systemic inflammatory disorder characterized by uncontrolled histiocytic proliferation, hemophagocytosis, macrophage activation, and up-regulation of inflammatory cytokines (Grom AA., Current opinion in rheumatology 2003; 15: 587-590). HLH is usually divided into two types...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-1110-7303

    authors: Li Y,Wang Y,Li S,Liu M,Wang D,Xu C,Zhang L

    更新日期:2020-02-25 00:00:00

  • [Development of complete liver cirrhosis in hyperphagia-induced fatty liver].

    abstract::The progression of alimentary fatty liver to liver cirrhosis is a very rare observation. During the year after surgical extirpation of a suprasellar craniopharyngioma in a seven years old boy developed severe obesity and again six years later at autopsy a complete liver cirrhosis with fatty liver was established. Inju...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1046584

    authors: Basenau D,Stehphani U,Fischer G

    更新日期:1994-01-01 00:00:00

  • [Acute acne fulminans et conglobata after the end of high-dose testosterone therapy for hereditary tall stature].

    abstract::We report on a 13.2 years old boy who was treated for tall stature (expected target height of 204.8 +/- 5.4 cm) with high dose of testosterone. Therapy for height reduction was started with testosterone injections (250 mg Testoviron Depot i.m.) once a week. There occurred no side effects during 6 months of treatment. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043822

    authors: Weimann E,Böhles HJ

    更新日期:1999-09-01 00:00:00

  • [Antacids for postoperative prevention of stress ulcer in infants: a dose finding study].

    abstract:UNLABELLED:In the prophylaxis of stress ulcers with antacids in young infants there are no recommendations of dosages that consider the physiologic maturation of gastric acid secretion. During the first six month of life the amount of gastric acid secretion in relation to body weight and body surface area increases exp...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2008-1043985

    authors: Kentrup H,Skopnik H,Wolter L,Engelhart W,Nauert C,Heimann G

    更新日期:1996-01-01 00:00:00

  • [Congenital syphilis after reactivation of "healed" maternal primary infection].

    abstract:UNLABELLED:The congenital syphilis is an infectious fetopathy which is able to affect the whole organism. In most cases symptoms are not obvious before week fourth to twelve of life. The infection of the mother is the precondition for the child's disease. The placental transfer takes place after the fifth to sixth mont...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2000-9612

    authors: Vieker S,Siefert S,Lemke J,Püst B

    更新日期:2000-11-01 00:00:00

  • [Duchenne-type muscular dystrophy: problems, early diagnosis, early treatment (author's transl)].

    abstract::The aetiology and pathogenesis of the Duchenne-type muscular dystrophy (pseudohypertrophic muscular dystrophy) are still largely unknown. The possibilities of treating the disease are rather limited. Treatment is the more successful, the earlier diagnosis was possible, and the earlier treatment is initiated. The CK-Sc...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:

    authors: Beckmann R

    更新日期:1978-11-01 00:00:00

  • [Anaerobic microflora of praepubertal children (author's transl)].

    abstract::Bacteriologic cultures of the vagina and the cervix of 38 praepubertal children, aged 3 months to 16 years (average age 9 years) from the outpatient department for infants and juveniles of the 1st Department of Obstetrics and Gynecology of the University of Vienna were obtained vaginascopically using anaerobic transpo...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033769

    authors: Gerstner G,Boschitsch E,Grünberger W,Rotter M

    更新日期:1982-01-01 00:00:00

  • [Undesirable drug reactions in simultaneous administration of high-dosage phenobarbital and beta-lactam antibiotics].

    abstract::The present paper reports on a striking increase in undesirable drug induced reactions during simultaneous administration of high-dosage phenobarbital and beta-lactam antibiotics to children in intensive care. In a 30-month study period, reactions which had to be classified as drug-induced were seen in 24 out of a tot...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2007-1025555

    authors: Harder S,Schneider W,Bae ZU,Bock U,Zielen S

    更新日期:1990-11-01 00:00:00

  • High reliability of scrotal ultrasonography in the management of childhood primary testicular neoplasms.

    abstract:BACKGROUND:The role for testis-sparing surgery in the treatment of primary intratesticular lesions in childhood is growing. The reliability of scrotal ultrasonograpy (US) in the management of these lesions is still controversial. PATIENTS:Between 1991 and 2007, 383 children and adolescents presented with testicular ab...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0031-1271813

    authors: Tallen G,Hernáiz Driever P,Degenhardt P,Henze G,Riebel T

    更新日期:2011-05-01 00:00:00

  • [Acute leukemia in a 13-year old boy with a synchronous occurrence of lympho- and monoblasts (author's transl)].

    abstract::The synchronous occurrence of blasts of the lymphatic and myelogenous lineage in acute leukemia has been rarely observed. Reviewing individual case reports it is suggested that malignant transformation already starts at the level of the stem cell. We are reporting a case of a 13-year old boy who initially showed morph...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034453

    authors: Creutzig U,Eschenbach C,Ritter J,Schellong G

    更新日期:1981-05-01 00:00:00

  • [Kleinschmidt's syndrome (author's transl)].

    abstract::This is a case-report about a 4 year old boy with "cherry red" epiglottis, purulent meningitis and pleuropneumonia. Purulent meningitis and pleuropneumonia are not complications of treatment of "cherry red" epiglottis but an entity caused by Hemophilus influenzae-infection and is called Kleinschmidt's syndrome (Hemoph...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Freudenberg V,Wolf H

    更新日期:1976-07-01 00:00:00

  • Sexual dimorphism of neonatal lung development.

    abstract:BACKGROUND:Gender differences in overall neonatal survival and in short term pulmonary outcome have been reported. Furthermore gender differences in childhood chronic lung disorders have been described all in favor of females. METHODS:A typical survey on published data regarding gender differences in lung development ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-0033-1333758

    authors: Gortner L,Shen J,Tutdibi E

    更新日期:2013-03-01 00:00:00

  • [Intrapericardial diaphragmatic hernia].

    abstract::Report of a case with congenital right sided intrapericardial diaphragmatic hernia. This type of a congenital diaphragmatic hernia occurs only rarely. Until 1984 30 cases are recorded in the available literature. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033888

    authors: Langer R,Kaufmann HJ

    更新日期:1986-07-01 00:00:00