当前位置： SCI文献检索 > EUROPEAN JOURNAL OF PEDIATRICS期刊下所有文献 > Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype.

Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype.

Abstract：

:The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes of the cluster: hGH-N, hCS-L, hCS-A and hGH-V. Both siblings produced high anti-GH antibody levels in response to exogenous GH therapy, followed by growth arrest a few months after starting replacement therapy. In patient 3 we detected a heterozygous deletion which involved three genes of the cluster (hCS-A, hGH-V, hCS-B) and left an intact hGH-N gene. Direct sequencing of hGH-N specific amplified fragments excluded the presence of any point mutations in exons and splicing regions. In patients 4 and 5 (sisters) our study did not demonstrate any gene deletions. Analysis of polymorphic restriction patterns in this family demonstrated that both sisters inherited the same alleles from the father but different alleles from the mother, suggesting that the defect was not linked to the hGH-N gene. These results confirm the difficulty of clinical identification of subjects with hGH-N deletion and underline the importance of DNA analysis in patients with absence of GH secretion and extreme growth retardation.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Cacciari E,Pirazzoli P,Gualandi S,Baroncini C,Baldazzi L,Trevisani B,Capelli M,Zucchini S,Balsamo A,Cicognani A

doi

10.1007/BF02190682

subject

Has Abstract,Author List Incomplete

pub_date

1994-09-01 00:00:00

pages

635-41

issue

9

eissn

0340-6199

issn

1432-1076

journal_volume

153

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF PEDIATRICS文献大全
  • Failed detection of complex congenital heart disease (including double outlet right ventricle and total anomalous pulmonary venous return) by neonatal pulse oximetry screening.

    abstract：:We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD. ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-006-0283-0

    authors： Hetzel PG,Glanzmann R,Günthard J,Bruder E,Godi E,Bührer C

    更新日期：2007-06-01 00:00:00

  • Long-term outcomes in pediatric appendiceal carcinoids: Turkey experience.

    abstract：:The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the surgery and post-operative follow-up on behalf of the intraoperative findings. A retrospective revi...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-018-3258-z

    authors： Akova F,Aydin E,Nur Eray Y,Toksoy N,Yalcin S,Altinay S,Tetikkurt US

    更新日期：2018-12-01 00:00:00

  • Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia.

    abstract：:We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficien...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-008-0694-1

    authors： Ozbay Hosnut F,Ozcay F,Selda Bayrakci U,Avci Z,Ozbek N

    更新日期：2008-12-01 00:00:00

  • Successful treatment of metastatic βHCG-secreting germ cell tumor occurring 3 years after total resection of a pineal mature teratoma.

    abstract：UNLABELLED:Patients diagnosed with intracranial teratoma are at risk for developing a recurrent malignant germ cell tumor. We describe a 14-year-old boy initially diagnosed with a mature teratoma in the pineal region that recurred as a metastatic beta-human chorionic gonadotropin (βHCG)-secreting germ cell tumor 3 year...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-014-2282-x

    authors： Cardellicchio S,Farina S,Buccoliero AM,Agresti B,Genitori L,de Martino M,Fangusaro J,Sardi I

    更新日期：2014-08-01 00:00:00

  • Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

    abstract：:We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions ch...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-007-0447-6

    authors： Sznajer Y,Siitonen HA,Roversi G,Dangoisse C,Scaillon M,Ziereisen F,Tenoutasse S,Kestilä M,Larizza L

    更新日期：2008-02-01 00:00:00

  • Vascular origin of Poland syndrome? A comparative rheographic study of the vascularisation of the arms in eight patients.

    abstract：:Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with Poland syndrome, a common malformation characterized by unilateral hand anomaly and ipsilateral aplasia of the inferior head of the pectoralis major muscle. A marked decrease of the velocity of the systolic in...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00496922

    authors： Bouvet JP,Leveque D,Bernetieres F,Gros JJ

    更新日期：1978-05-22 00:00:00

  • Clinical practice: neonatal resuscitation. A Dutch consensus.

    abstract：:The updated Dutch guidelines on Neonatal Resuscitation assimilate the latest evidence in neonatal resuscitation. Important changes with regard to the 2004 guidelines and controversial issues concerning neonatal resuscitation are reviewed, and recommendations for daily practice are provided and argued in the context of...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-009-1091-0

    authors： van den Dungen FA,van Veenendaal MB,Mulder AL

    更新日期：2010-05-01 00:00:00

  • Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign.

    abstract：:The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-013-2172-7

    authors： Mermerkaya M,Süer E,Öztürk E,Gülpınar Ö,Gökçe Mİ,Yalçındağ FN,Soygür T,Burgu B

    更新日期：2014-05-01 00:00:00

  • The accuracy of voiding urosonography in detecting vesico-ureteral reflux: a summary of existing data.

    abstract：UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-002-0954-4

    authors： Valentini AL,De Gaetano AM,Destito C,Marino V,Minordi LM,Marano P

    更新日期：2002-07-01 00:00:00

  • Detection, diagnosis, and prevention of child abuse: the role of the pediatrician.

    abstract：:It is the pediatrician's role to promote the child's well-being and to help parents raise healthy, well-adjusted children. Today's pediatricians are confronted with a patient population in which there is a high prevalence of child abuse in its different presentations (physical, sexual, and psychological abuse and/or n...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-011-1616-1

    authors： Marchand J,Deneyer M,Vandenplas Y

    更新日期：2012-01-01 00:00:00

  • Use of social networking sites by parents of very low birth weight infants: experiences and the potential of a dedicated site.

    abstract：UNLABELLED:The objective of this study was to study the experiences of parents of preterm infants who use social networking sites and the potential of such sites for gathering information and facilitating personal exchange. An anonymous self-reporting questionnaire was administered to parents of infants below 1,500 g b...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-013-2067-7

    authors： Gabbert TI,Metze B,Bührer C,Garten L

    更新日期：2013-12-01 00:00:00

  • Transient and permanent neonatal diabetes.

    abstract：:Neonatal diabetes, which may be transient or permanent, is rare. Most patients are full-term but small- for-date infants. Typical symptoms of diabetes mellitus occur within the first 4 weeks of life, requiring insulin therapy and very strict blood glucose monitoring. Subsequent growth and psychomotor development are u...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/BF01958635

    authors： Fösel S

    更新日期：1995-12-01 00:00:00

  • Does the severity of congenital heart defects affect disease-specific health-related quality of life in children in Bosnia and Herzegovina?

    abstract：UNLABELLED:The aim of this study was to assess whether the severity of congenital heart defects (CHD) affects disease-specific health-related quality of life (HRQOL) in children after open heart surgery. One hundred and fourteen children with CHD and one of their parents participated in the study. HRQOL was evaluated b...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-009-1060-7

    authors： Tahirović E,Begić H,Nurkić M,Tahirović H,Varni JW

    更新日期：2010-03-01 00:00:00

  • Gastric pneumatosis following cardiac surgery.

    abstract：:Infiltration of the stomach wall by air, first described by Fraenkel in 1889 [3], is a very rare condition. We describe the first reported case of gastric pneumatosis occurring in a child with complex congenital heart disease after cardiac surgery. ...

    journal_title：European journal of pediatrics

    pub_type： 信件

    doi：10.1007/s004310051338

    authors： Taylor DR,Tung JY,Baffa JM,Shaffer SE,Blecker U

    更新日期：2000-07-01 00:00:00

  • Efficacy of Citicoline as a Neuroprotector in children with post cardiac arrest: a randomized controlled clinical trial.

    abstract：:Brain hypoxia after cardiac arrest leads to damage of the neuronal cell membrane. Citicoline is necessary for the synthesis of cell membrane. We planned to assess the neuroprotective effect of citicoline in children after cardiac arrest. This randomized controlled trial was carried out at pediatric intensive care unit...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-020-03871-6

    authors： Salamah A,Mehrez M,Faheem A,El Amrousy D

    更新日期：2020-11-10 00:00:00

  • The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life.

    abstract：:Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operati...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02276713

    authors： Kuhnle U,Bullinger M,Schwarz HP

    更新日期：1995-09-01 00:00:00

  • Heme oxygenase-1 expression in premature and mature neonates during the first week of life.

    abstract：:Newborns are exposed to mechanical and oxidative stress during labor and to relative hyperoxia thereafter during the course of adaptation to the extrauterine conditions. Part of the adaptation mechanism is the rapid degradation of fetal hemoglobin and the oxidation of its heme moiety by heme oxygenases (HOs). Heme oxy...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-006-0375-x

    authors： Maróti Z,Katona M,Orvos H,Németh I,Farkas I,Túri S

    更新日期：2007-10-01 00:00:00

  • Use of self-heating gel mattresses eliminates admission hypothermia in infants born below 28 weeks gestation.

    abstract：INTRODUCTION:Hypothermia at birth is strongly associated with mortality and morbidity in pre-term infants. BACKGROUND:A local audit showed limited effectiveness of occlusive wrapping in preventing admission hypothermia in very pre-term infants. Self-heating acetate gel mattresses were introduced as a result to prevent...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-009-1113-y

    authors： Ibrahim CP,Yoxall CW

    更新日期：2010-07-01 00:00:00

  • Role of BAFF in pediatric patients with allergic rhinitis during sublingual immunotherapy.

    abstract：UNLABELLED:Sublingual immunotherapy (SLIT) is the only therapeutic option for allergic rhinitis (AR) that modifies the immunological process to an allergen, rather than treating symptoms simply. However, its regulatory mechanisms are largely unknown. B-cell-activating factor of the TNF family (BAFF) plays very importan...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-014-2287-5

    authors： Luo R,Liu W,Wang J,Chen Y,Sun C,Zhou L,Li Y,Deng L

    更新日期：2014-08-01 00:00:00

  • Hypothalamic adipic hypernatraemia syndrome with normal osmoregulation of vasopressin.

    abstract：UNLABELLED:Adipsic hypernatraemia is an uncommon disorder in childhood caused by a defect in the osmoregulation of thirst, leading to impairment of water homeostasis and chronic hyperosmolality of body fluids. Adipsia is often associated with an abnormality in osmoregulated vasopressin secretion due to the close proxim...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-004-1495-9

    authors： López-Capapé M,Golmayo L,Lorenzo G,Gallego N,Barrio R

    更新日期：2004-10-01 00:00:00

  • Neurophysiological findings in long-term survivors of acute lymphoblastic leukaemia in childhood treated with the BFM protocol 81 SR-A/B.

    abstract：UNLABELLED:Monitoring of therapy-related late effects after acute lymphoblastic leukaemia (ALL) therapy in childhood has become an increasingly important field in posttherapeutic patient surveillance. The usefulness of neurophysiological investigations (e.g. EEG, evoked potentials (EP)) as part of these attempts is con...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s004310050700

    authors： Ueberall MA,Skirl G,Strassburg HM,Wenzel D,Hertzberg H,Langer T,Meier W,Berger-Jones K,Huk WJ,Korinthenberg R,Beck JD

    更新日期：1997-09-01 00:00:00

  • A time for reappraisal of "atypical" hemolytic uremic syndrome: should all patients be treated the same?

    abstract：UNLABELLED:Atypical hemolytic uremic syndrome (HUS) refers to the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury in the absence of Shiga toxin-producing Escherichia coli exposure or Streptococcus pneumoniae infection. Currently, approximately 50 % of the atypical cases have demons...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-012-1763-z

    authors： Ruebner RL,Kaplan BS,Copelovitch L

    更新日期：2012-10-01 00:00:00

  • Predictors for place of death among children:A systematic review and meta-analyses of recent literature.

    abstract：:Through a systematic review and meta-analyses, we aimed to determine predictors for place of death among children. We searched online databases for studies published between 2008 and 2019 comprising original quantitative data on predictors for place of death among children. Data regarding study design, population char...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-020-03689-2

    authors： Wolff SL,Christiansen CF,Nielsen MK,Johnsen SP,Schroeder H,Neergaard MA

    更新日期：2020-08-01 00:00:00

  • Surfactant therapy in neonates with respiratory failure due to haemorrhagic pulmonary oedema.

    abstract：UNLABELLED:We studied the clinical and biochemical factors associated with surfactant dysfunction and factors affecting the responsiveness to exogenous surfactant among 27 neonates with haemorrhagic pulmonary oedema (HPE). HPE was defined as the presence of a large amount of blood-stained lung effluent and respiratory ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00431-003-1276-x

    authors： Amizuka T,Shimizu H,Niida Y,Ogawa Y

    更新日期：2003-10-01 00:00:00

  • Ethical and psychological aspects of living donorship and life with a donated organ.

    abstract：:There is far-reaching consent in the literature that public and consensual agreements on the basics of the different aspects of medical ethics are inalienable before the instigation of any innovative transplant procedure. In the case of a certain method and/or of an individual patient, however, the ultimate ethical ev...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02125808

    authors： Wolff G

    更新日期：1992-01-01 00:00:00

  • Predictive factors for the effect of gonadotrophin releasing hormone analogue therapy on the height of girls with idiopathic central precocious puberty.

    abstract：:The factors influencing the final height of central precocious puberty patients treated with gonadotrophin releasing hormone (GnRH) analogues remain a critical issue. This study compares the predicted final height before and after GnRH analogue therapy to identify predictive factors for final height. Fourteen girls wi...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01959077

    authors： Brauner R,Malandry F,Rappaport R

    更新日期：1992-10-01 00:00:00

  • Growth and sexual development in children with meningomyelocele.

    abstract：:Forty-five children (25 girls; 20 boys) with meningomyelocele (MMC) were assessed for growth, skeletal maturation and pubertal development. The spinal defects were operated on shortly after birth and all children required cerebral drainage for hydrocephalus. Standard deviation scores for height, sitting height, sub-is...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00451900

    authors： Greene SA,Frank M,Zachmann M,Prader A

    更新日期：1985-07-01 00:00:00

  • Pellagra with colitis due to a defect in tryptophan metabolism.

    abstract：:A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-h...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01958432

    authors： Clayton PT,Bridges NA,Atherton DJ,Milla PJ,Malone M,Bender DA

    更新日期：1991-05-01 00:00:00

  • Continuous negative extrathoracic pressure and cardiac output--a pilot study.

    abstract：:Continuous negative extrathoracic pressure (CNEP) has been recently reintroduced as therapy for respiratory failure. To determine its effects on cardiac output a pilot study was performed in ten patients aged 2 months-3 years (median 4 months). All had chronic respiratory failure (seven with bronchopulmonary dysplasia...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01954088

    authors： Raine J,Redington AN,Benatar A,Samuels MP,Southall DP

    更新日期：1993-07-01 00:00:00

  • [On the validity of W170 as a measure of physical performance capacity in the assessment of children with heart disease (author's transl)].

    abstract：:W170, i.e., the work rate at a heart frequency of 170 beats per minute, and maximal oxygen uptake were determined in one performance in 20 boys and 23 girls from 6 to 16 years of age on a bicycle ergometer. The results were related to normal values according to age and height. In different age and sex groups correlati...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00463741

    authors： Mocellin R,Bastanier C

    更新日期：1976-06-08 00:00:00