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. Partial trisomies of this chromosomal segment have rarely been reported. Unexpectedly, the consequences on the child's phenotype are only minor. Main features are: facial dysmorphy, small stature and syndactyly of 4th and 5th toes; mental and statomotoric development are not grossly affected.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Schürmann M,Wethling H,Niemeyer ML,Schwinger Edoi
10.1055/s-2008-1026754subject
Has Abstractpub_date
1987-01-01 00:00:00pages
27-31issue
1eissn
0300-8630issn
1439-3824journal_volume
199pub_type
杂志文章abstract::Longitudinal growth was assessed in 10 children aged 0.8 to 11.8 years with adrenocortical tumors. All children had signs of androgen excess. In addition, 5 children had glucocorticoid excess, 1 child had estrogen excess. Multiple height recordings, expressed as height standard deviation score for chronological age, w...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025405
更新日期:1991-03-01 00:00:00
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:
更新日期:1975-11-01 00:00:00
abstract:OBJECTIVE:To investigate the change of psychological symptoms and quality of life in children and adolescents with congenital heart disease, cancer, or cystic fibrosis after a family-oriented inpatient rehabilitation program. METHODS:302 participants in the intervention (aged 4-17 years, mean=8.7) were assessed using ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1262831
更新日期:2011-03-01 00:00:00
abstract::In the present study the possibility of immunophenotyping of routinely prepared (air dried) peripheral blood and bone marrow smears is described after storage. The immunoenzymatical alkaline-phosphatase-anti-alkaline-phosphatase (APAAP)-method was carried out in differently stored blood smears (+4 degrees C and -80 de...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025311
更新日期:1989-07-01 00:00:00
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...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025580
更新日期:1984-03-01 00:00:00
abstract::Immunocompromised patients in pediatric hematology-oncology are faced with an increased risk of nosocomial infections (NI). The incidence of NI and the contribution of certain risk factors have not sufficiently been investigated in this population. It is therefore unknown how many NI are preventable through infection ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2001-17507
更新日期:2001-09-01 00:00:00
abstract::Ten to fifteen percent of infants of myasthenic mothers develop neonatal myasthenia independent of the severity of the maternal disease. The antiacetylcholin receptor-protein antibodytiter (AChR-AK) was followed through the first twelve months in a boy who's mother suffered from myasthenia gravis (M.G.) since twelve y...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034089
更新日期:1984-09-01 00:00:00
abstract::The article reports on the case history of a 8 month old baby who fell ill of a ileocolic intussusception. The barium enema demonstrated the typical cupping in the head of the barium. The successful reposition by hydrostatic pressure was manifest by barium reflux in the small intestine. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034383
更新日期:1983-07-01 00:00:00
abstract::Female patients with anorexia nervosa (a.n.) are characterized by distinct endocrine features probably due to hypothalamic pituitary dysfunctions. There is only a limited number of case reports available on patients with a.n.; mostly with few data on hormones. In six male patients with a.n. we examined basal and stimu...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033727
更新日期:1988-07-01 00:00:00
abstract::Inherited disorders of platelets constitute a group of rare diseases that give rise to bleeding syndromes of variety severity, with more severe cases being first diagnosed during infancy and childhood. To appropriate diagnose a platelet function disorder during early childhood the knowledge of the physiological charac...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1249065
更新日期:2010-05-01 00:00:00
abstract::Newly diagnosed immune thrombocytopenia occurs in 3-5/100 000 children < 14 y per year. Bleeding symptoms do not correlate with platelet count. Diagnostic approach includes history, clinical examination and analysis of blood count with blood smear by experienced hematologist. Additional investigations are only necessa...
journal_title:Klinische Padiatrie
pub_type: 共识发展会议,杂志文章
doi:10.1055/s-0032-1306277
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Sonographic screening helps to discover pathological findings in asymptomatic patients. In these cases the decision about diagnostic and therapeutic consequences is difficult. CASE REPORT:We describe a girl with a congenital small solitary hepatic cyst with rapidly increasing size after the second year, whi...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2002-35364
更新日期:2002-11-01 00:00:00
abstract::Case report of arthrogryposis multiplex congenita with histologically proved neutrogene atrophy of muscles. The also existing reduction deformities of the limbs, showing aplasia and hypoplasia of phalanges may hypothetically be of neuropathic origin. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract::Concentrations of free thyroxine (n = 341, male = 205, female = 136) and free triiodothyronine (n = 318, male = 198, female = 120) were determined using the radioimmunoassay method in blood serum of euthyroid children. Beyond the 30. day of life no significant differences were found in different age groups for the fre...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026821
更新日期:1987-09-01 00:00:00
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
更新日期:1996-01-01 00:00:00
abstract::An increasing number of children with acute leukemia show cerebral complications. 10 out of 78 children treated in our hospital for acute lymphoblastic leukemia or non-Hodgkin's lymphoma who underwent remission induction therapy or were in continuous complete remission developed central nervous system complications. D...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035608
更新日期:1980-07-01 00:00:00
abstract::A case of a severe heroin withdrawal syndrom in a newborn infant is reported. Diagnostic and therapeutic aspects of the disease are reviewed. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-11-01 00:00:00
abstract::In 37 children with extrahepatic biliary atresia between 12 days in 9 years of age we performed 72 duplexsonographic examinations of the portal system and the hepatic artery. In the control group we investigated 61 healthy children. All investigations were performed with computer sonography (Acuson 128) with a 3.5 MHz...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025481
更新日期:1990-01-01 00:00:00
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...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0031-1273726
更新日期:2011-05-01 00:00:00
abstract::Since reliable diagnosis of cystic fibrosis (CF) is still difficult, the occurrence of serum markers CA 19-9, CA 50 and elastase 1 was analysed. Serum levels of CA 19-9, CA 50, CA 125 and elastase 1 were estimated in 54 CF patients as well as in a control group of 66 children of similar age suffering from various othe...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033692
更新日期:1988-03-01 00:00:00
abstract::A paralysis of the left vocal cord was seen by laryngoscopy in a 3-days-old boy with inspiratory stridor. A ductus aneurysm was established by angiocardiography, which was believed to be the cause of the vocal cord paralysis. Within 8 days after the angiocardiography the aneurysm became smaller and the stridor disappe...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026854
更新日期:1986-01-01 00:00:00
abstract::Oxygen saturation was determined non-invasively with the oxygenmet pulse wave oximeter 1471 and at the same time with the invasive reflectometric method. The determinations were carried out on 49 children (males = 24, females = 25) during 52 catherizations of the heart. Among these children aged between one week and 1...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034484
更新日期:1981-07-01 00:00:00
abstract::Problems of terminology, differential diagnosis, etiology and therapy of language development disorders are demonstrated by a casuistic example. Besides the importance of clinical date special attention was laid on neuropsychological diagnostic procedures and their therapeutic implications. Therapeutic interventions c...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-09-01 00:00:00
abstract::Aim of the present study was to test whether six-hour (6 h) urine specimens predict the 24-hour (24 h) mineral homeostasis in individual infants born preterm. Urinary Calcium (Ca) and Phosphate (P) concentrations were studied in 60 stable infants; gestational age 34 (25-42) weeks. In 58 infants four 6 h urine specimen...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0031-1301361
更新日期:2012-03-01 00:00:00
abstract::Infectious complications are a major cause of morbidity and mortality in pediatric and adult patients undergoing hematopoietic stem cell transplantation. The incidence and the severity code of infections depend on the function of the host's immune system. This function is strongly correlated to the application of immu...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2005-872508
更新日期:2005-11-01 00:00:00
abstract:BACKGROUND:Epidemiology and resistance patterns of bacterial pathogens in pediatric UTI show large interregional variability and rates of bacterial resistances are changing due to different antibiotic treatment. We intended to evaluate data from northern Germany. PATIENTS AND METHODS:In 100 children (53 female, 47 mal...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-823143
更新日期:2004-03-01 00:00:00
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
更新日期:1981-05-01 00:00:00
abstract::In our experience the prognosis of hematological relapse in patients with acute lymphatic leukemia treated according to the Pinkel programme is very bad. It may be a little better for patients in whom relapse occurred after the end of therapy and who were submitted to intensified cytostatic treatment. The chances for ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::Centralized treatment of critically ill pediatric patients and related problems are presented. Pediatric intensive care allows to overbridge deranged or interrupted organ functions while simultaneously treating the disease causing the disturbance. Its efficiency depends on continuity of medical care. Medical and nursi...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1035616
更新日期:1980-09-01 00:00:00
abstract::With the advent of prenatal diagnosis and the feasibility of intrauterine treatment, non-immune hydrops fetalis (NHIF) is gaining increasing importance. 14 patients are reported 10 of whom having been diagnosed prenatally. 13 were born prematurely severe asphyxia being a frequent occurrence. 7 out of 14 infants surviv...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033984
更新日期:1985-07-01 00:00:00