[Non-immunologic hydrops fetalis (NIHF)--case report of double partial trisomy 15q and 17q resulting from familial translocation 15/17 and cytogenetic findings in 50 cases with hydrops fetalis].

Abstract:

:We report the first case of non-immune hydrops fetalis (NIHF) with trisomy 15q11/17q22.5 resulting from a familial translocation 15/17. Furthermore the cytogenetic findings of 50 cases with hydrops fetalis are presented. Of the 30 cytogenetic analyzable cases 7 showed chromosomal abnormalities (4x45,X; 2x47,XY,+21; 1x47,XY,+13). In every case of NIHF a chromosomal analysis should be performed if possible from different tissues.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Schmid G,Haverkamp F,Rechmann J,Schwanitz G,Zerres K,Hansmann M,Kowalewski S

doi

10.1055/s-2008-1026810

subject

Has Abstract

pub_date

1987-07-01 00:00:00

pages

309-14

issue

4

eissn

0300-8630

issn

1439-3824

journal_volume

199

pub_type

杂志文章
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    doi:10.1055/s-2008-1035608

    authors: Ludwig R,Meyer E,Brandeis WE

    更新日期:1980-07-01 00:00:00

  • [The plasma-protein-binding of Clindamycin Cephazolin and Cephradin in neonates and adults (author's transl)].

    abstract::In pooled serum of 12 healthy adults and 12 neonates (blood taken from the umbilical cord) the free and protein-bound parts of Cephazolin, Cephradin and Clindamycin were tested by equilibrium dialysis in relation to the concentration of the antibiotic. In the serum of adults at a concentration of 36 mcg/ml the free p...

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    doi:

    authors: Kiosz D,Simon C,Malerczyk V

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

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

    更新日期:2011-05-01 00:00:00

  • [Delay of constitutional development--studies on therapy with growth hormone].

    abstract::Human growth hormone was given to 6 boys with constitutional delay of growth and development. Three patients had normal growth hormone responses following exercise or insulin-induced hypoglycemia. Subnormal growth rate (less than 2 SD below normal for bone age) was found in 4 patients. The mean growth rate of the pati...

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    doi:10.1055/s-2007-1025580

    authors: Butenandt O

    更新日期:1984-03-01 00:00:00

  • [Type I pachyonychia congenita (Jadarssohn-Lewandowsky)].

    abstract:BACKGROUND:Pachyonychia congenita is considered to be a genodermatosis of autosomal inheritance. It is characterized by nail hypertrophy, shortly present after birth. Later on follicular keratosis of the extremities and hyperkeratosis of palms and soles can be found. HISTORY AND CLINICAL FINDINGS:We report a child wit...

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    doi:10.1055/s-2008-1043783

    authors: Wimmershoff MB,Stolz W,Schiffner R,Landthaler M

    更新日期:1999-05-01 00:00:00

  • Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma or leukemia.

    abstract::Members of the histone deacetylase (HDAC) family exhibit great promise as potential drug targets in pediatric tumors including neuroblastoma, medulloblastoma, ependymoma and Ewing's sarcoma. HDAC inhibitors of various structural classes have shown anti-tumoral effects in pre-clinical pediatric tumor models as single a...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-0032-1323692

    authors: Witt O,Milde T,Deubzer HE,Oehme I,Witt R,Kulozik A,Eisenmenger A,Abel U,Karapanagiotou-Schenkel I

    更新日期:2012-10-01 00:00:00

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

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    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

  • The secretory IgA system.

    abstract::The secretory IgA system is common to all mucosal membranes and is presumably of great importance for their defense. In addition to the secretory IgA antibodies produced in a mucosa in response to a local antigenic stimulus there is a spread of this type of IgA response via committed lymphocytes. They originate from c...

    journal_title:Klinische Padiatrie

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    doi:10.1055/s-2008-1033997

    authors: Hanson LA,Andersson B,Carlsson B,Dahlgren U,Mellander L,Porras O,Svanborg Edén C,Söderström T

    更新日期:1985-07-01 00:00:00

  • [Atenolol for preventing recurrence of atrioventricular reentry tachycardia in childhood].

    abstract:BACKGROUND:Supraventricular reentrant tachycardias are the most common cardiac arrhythmia observed in infancy and childhood. The often benign clinical course of the disease warrants careful selection of any antiarrhythmic drug given to prevent recurrencies, in order to avoid potentially dangerous side-effects such as p...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043903

    authors: Pfammatter JP,Weber JW,Stocker FP

    更新日期:1998-09-01 00:00:00

  • [The growth rate of healthy children in the first 16 years: Bonn-Dortmund longitudinal developmental study].

    abstract::Standards for supine length/height velocity from birth to 16 years (percentiles, mean and standard deviation) are presented, based on the longitudinal growth studies from Bonn and Dortmund. During the first two years of life growth velocity is twice to three times higher as in the following years. Many things point to...

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1033752

    authors: Brandt I,Reinken L

    更新日期:1988-11-01 00:00:00

  • [Invagination: diagnosis and conservative therapy].

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    journal_title:Klinische Padiatrie

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    doi:10.1055/s-2008-1034383

    authors: Klingmüller V

    更新日期:1983-07-01 00:00:00

  • [Septicaemia in the neonatal and infant period (author's transl)].

    abstract::The paper reported about septicaemia in the neonatal and infant period. Continuing former investigations by Kienitz in the same pediatric clinic we have got a survey from 1933 to 1974. In the last years we saw increasingly more infections with gram-negative organisms, especially by Pyocyaneus with a severe prognosis. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Diekmann L,Kotzur J

    更新日期:1976-03-01 00:00:00

  • [The diagnostic value of cytology of the CSF (author's transl)].

    abstract::Cytological examination of cerebrospinal fluid needs special techniques of cell collecting and staining. On condition of realizing the methodical requirements cytology of the cerebrospinal fluid brings more advancement in diagnostics than other laboratory examinations. The advantages of this procedure are: 1. Meningit...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Harms D

    更新日期:1975-03-01 00:00:00

  • [Long-term course of 6 boys with congenital nephrogenic diabetes insipidus].

    abstract::From 1975-1986 6 boys with congenital nephrogenic diabetes insipidus were diagnosed at the age of 3 months to 10 years. Symptoms appeared within the first few weeks of life. The diagnosis was confirmed by polyuria, low urinary osmolality (97-225 mosm/kg H20), hypernatraemia (max. 171 mmol/l) and the missing response t...

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    doi:10.1055/s-2008-1026741

    authors: Kaulitz R,Brodehl J

    更新日期:1989-11-01 00:00:00

  • Allogeneic hematopoietic stem cell transplantation in Glanzmann thrombasthenia complicated by platelet alloimmunization.

    abstract:BACKGROUND:For Thrombasthenia Glanzmann (GT) patients presenting with a severe clinical phenotype due to complete lack of thrombocyte function or increased titres of anti-platelet antibodies hematopoietic stem cell transplantation (SCT) is the only curative therapy. CASE REPORT:We report the case of a 13-month-old boy...

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    doi:10.1055/s-0031-1273726

    authors: Wiegering V,Winkler B,Langhammer F,Wölfl M,Wirbelauer J,Sauer K,Kobsar A,Meyer T,Strauss A,Bakchoul T,Eyrich M,Schlegel PG

    更新日期:2011-05-01 00:00:00

  • A Snapshot of Pediatric Patients with COVID-19 in a Pandemic Hospital.

    abstract:AIM:Reports describing coronavirus disease 2019 (Covid-19) in children are fewer than adult studies due to milder clinical picture. We aimed to share our experience at a single center with an emphasis on collective decision making. MATERIALS AND METHODS:A suspected case was defined as the presence of symptoms suggesti...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-1263-1222

    authors: Duramaz BB,Turel O,Korkmaz C,Karadogan MT,Yozgat CY,Iscan A,Sümbül B,Erenberk U

    更新日期:2021-01-01 00:00:00

  • [Newborn Screening on Cystic Fibrosis in Germany: Comparison of the new Screening Protocol with an Alternative Protocol].

    abstract::Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as t...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0042-124187

    authors: Sommerburg O,Stahl M,Hammermann J,Okun JG,Kulozik A,Hoffmann G,Mall M

    更新日期:2017-03-01 00:00:00

  • [Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].

    abstract::An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Pa...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026754

    authors: Schürmann M,Wethling H,Niemeyer ML,Schwinger E

    更新日期:1987-01-01 00:00:00

  • Health related quality of life after corrective surgery for congenital heart disease.

    abstract:UNLABELLED:After corrective surgery for congenital heart defects (CHD) many patients suffer from residual defects, some with reduced cardiorespiratory capacity and possible impairment of their health related quality of life (HRQoL). The aim of our study is to evaluate, how children after surgery for CHD rate their HRQo...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0034-1382019

    authors: Heusch A,Calaminus G,Kahl J,Schmidt K

    更新日期:2014-09-01 00:00:00

  • [Long term follow up after parenteral specific hyposensitization in children (author's transl)].

    abstract::The long term follow up of 55 children with allergy treated by specific hyposensitization therapy is reported. Hyposensitization therapy had been terminated from 2--7 years previously. The success of treatment was subjectively judged to be satisfactory of good in 62% of the cases. In the group of asthmatic children, a...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Urbanek R,Karitzky D

    更新日期:1975-11-01 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...

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    doi:10.1055/s-2008-1046584

    authors: Basenau D,Stehphani U,Fischer G

    更新日期:1994-01-01 00:00:00

  • [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_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Wagenbichler P,Frisch H,Schnedl W

    更新日期:1975-11-01 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...

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    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

  • [Fournier's gangrene in a 2-month-old infant].

    abstract::A two month old boy with Fournier's Gangrene of the scrotum as a result of unnecessary needle puncture of the hydrocele is being reported. The importance of appropriate diagnosis operation and drug-therapy is also described. ...

    journal_title:Klinische Padiatrie

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    doi:10.1055/s-2008-1034104

    authors: Heemann KF,Homann W,Pistor K

    更新日期:1984-11-01 00:00:00

  • [Parents and oncology team members are getting together after the death of a child. Report from Children's hospital Tübingen].

    abstract::The death of a child after an oncologic disease gives rise to feelings of mourning, loss and anger in family members and often also in oncology team members. All people involved need to find ways of coping with these emotions and thought. Therefore, the oncology team of the Children's Hospital Tuebingen has, for many ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2002-33178

    authors: Kochendörfer S

    更新日期:2002-07-01 00:00:00

  • Painful scoliosis.

    abstract::In case of painful scoliosis, a search for etiologic factors in the vertebral spinal canal and adjacent structures should be made. MRI with Gadolinium is useful to look for various pathology in and around the spine in particular of spinal cord. CT scanning is indispensible for bony details. Thus CT and MRI are complem...

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    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1043932

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    更新日期:1997-03-01 00:00:00

  • [Elimination of fat emulsions of various concentrations from the blood. Observational study in the intravenous administration of Lipovenös 10% and 20% in premature infants with very low birth weight].

    abstract::Within the scope of an observation study 40 premature low birth weight infants requiring parenteral nutrition received either 10% or 20% lipid emulsions (Lipovenös) for 7 days. The 10% lipid emulsion differs from the 20% lipid emulsion in the higher phospholipid/triglyceride-ratio (0.06 resp. 0.12). Lipid infusion was...

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    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2007-1025318

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    更新日期:1992-01-01 00:00:00

  • [Pneumatocele after hydrocarbon aspiration].

    abstract::Report of accidental ingestion and aspiration of lamp oil of a boy aged 16 months. He develops in a few hours a severe pneumonitis with tachycardia. Echocardiography shows diminished contractability. After losing his symptoms, the chest x-rays on the 13th day show bilateral pneumatoceles. The course remains asymptomat...

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    更新日期:1998-11-01 00:00:00

  • [External stimulus dependence in food intake of obese adolescents: studies using a food dispenser].

    abstract::According to the theories of Schachter concerning the external response of obese adults, which have been confirmed by Jung, Pudel and Nisbett, we tested these theories in obese adolescents. Eating behaviour of 16 grossly obese adolescents (8 males, 8 females, mean age 13.2 +/- 0.3 years, mean relative body weight 124 ...

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    doi:10.1055/s-2007-1025512

    authors: Widhalm K,Zwiauer K,Eckharter I

    更新日期:1990-05-01 00:00:00

  • [Intracranial pressure increase following treatment nalidixic acid in a child aged 3 1/2 years (author's transl)].

    abstract::Neurological symptoms developed in a girl aged three-and-a-half years during treatment with nalidixic acid. The symptoms progressed even after the preparation had been discontinued, and culminated in the development of a transient intracranial pressure increase. ...

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    pub_type: 杂志文章

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    authors: Lorenz R

    更新日期:1979-07-01 00:00:00