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 urinary tract dysfunction is typical in these patients. Although facial signs and symptoms are generally ignored and shadowed by the dominant bladder symptoms, we have recently realized a unique but constant finding in majority of these patients, nocturnal lagophthalmos which is described as inability to close the eyelids during sleep. We report 15 patients with urofacial syndrome (Ochoa) whom mostly had admitted with major urological symptoms and 12 of the cases had nocturnal lagophthalmos. Lagophthalmos may lead to keratitis, corneal abrasion, infection, vascularization, and in extreme cases, ocular perforation, endophthalmitis and loss of the eye. Basic modalities like lubricant drops during the day and ointments at night are usually enough to protect the cornea from exposure keratopathy. In moderate to severe cases, overnight taping of the lid or the use of a moisture chamber might be necessary. Majority of our patients responded to basic therapy. Conclusion Nocturnal lagophthalmos is a novel symptom described in patients with urofacial syndrome. The pediatricians and urologists should be careful about this symptom to prevent eye damage and quality of life problems.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Mermerkaya M,Süer E,Öztürk E,Gülpınar Ö,Gökçe Mİ,Yalçındağ FN,Soygür T,Burgu Bdoi
10.1007/s00431-013-2172-7subject
Has Abstractpub_date
2014-05-01 00:00:00pages
661-5issue
5eissn
0340-6199issn
1432-1076journal_volume
173pub_type
杂志文章abstract：:Complete masculinisation of the external genitalia (type V of Prader classification) is reported in two siblings with normal internal female genitalia, normal ovaries and a 46,XX chromosome constitution in different cell lines without any detectable source of exposure to androgen during pregnancy. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00445596
更新日期：1984-06-01 00:00:00
abstract：:Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalizations in children aged < 2 years. The aim of this retrospective, single-centre study was to examine the characteristics of patients admitted to a paediatric intensive care unit (PICU) with RSV infection followin...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1376-3
更新日期：2011-07-01 00:00:00
abstract：:Serial ultrasound examinations were performed through the anterior fontanelle to detect and follow subependymal pseudocysts (SP) in 19 neonates without severe malformations. A high-resolution real-time sector scanner was employed. In 8 cases the SP involved both lateral ventricles, in 11 cases they were unilateral and...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00595915
更新日期：1989-02-01 00:00:00
abstract：:Given the worldwide increase prevalence of overweight, obesity, and nonalcoholic fatty liver disease (NAFLD), the objective of this study was to evaluate whether the triglycerides and glucose (TyG) index is associated with hepatic steatosis in children with overweight or obesity. Apparently healthy children aged 5‑17 ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-021-03951-1
更新日期：2021-01-25 00:00:00
abstract：:A 14-year-old boy had a 6 month history of recurrent macroscopic haematuria. A papillary non-invasive transitional cell carcinoma of the bladder was found at cystoscopy and treated by transurethral resection. In comparison to adults, bladder carcinoma is a rare cause of haematuria in children who appear to have a favo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442709
更新日期：1988-04-01 00:00:00
abstract：:Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03572-0
更新日期：2020-08-01 00:00:00
abstract：:Recently a novel and non-invasive technique of lower leg length measurement (knemometry) was introduced. The method estimates the distance between heel and knee in the sitting child with an accuracy of 0.09 mm(SD). Two female patients with anorexia nervosa, aged 14:4 and 13:7 years, weighing minus 27 and minus 38% of ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02467353
更新日期：1987-11-01 00:00:00
abstract：:Forty newborns with severe shock and disseminated intravascular coagulation were randomized for treatment with heparin or placebo. Mortality was equal in both groups. The heparin group required significantly shorter periods of artificial ventilation. The coagulation system improved faster, and the coagulation pattern ...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF00444754
更新日期：1980-01-01 00:00:00
abstract：UNLABELLED:Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessi...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-003-1223-x
更新日期：2003-07-01 00:00:00
abstract：:Despite the sudden and often alarming clinical manifestations of ITP, few patients in the pediatric age group develop serious complications or long-term sequellae. Conservative therapy, without use of pharmacologic or surgical intervention, is the most convenient, safe, and cost-effective approach in the vast majority...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02343213
更新日期：1987-03-01 00:00:00
abstract：:Growth hormone (GH) responses to GRF (1 microgram/kg BW i.v.) were investigated. Comparison between GRF(1-40) and GRF(1-29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1-29)NH2. The maximal GH levels (max GH)...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02429048
更新日期：1986-12-01 00:00:00
abstract：:Early identification of infants being at high risk to become obese at their later childhood or adolescence can be of vital importance in any obesity prevention initiative. The aim of the present study was to examine the utility and applicability of the "Childhood Obesity Risk Evaluation (CORE)" index as a screening to...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-016-2799-2
更新日期：2016-12-01 00:00:00
abstract：:A case of painful bilateral hip effusions resolving spontaneously in the diuretic phase of steroid responsive nephrotic syndrome in a 6-year-old girl is reported. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02072499
更新日期：1993-02-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2088-2
更新日期：2014-12-01 00:00:00
abstract：:A term newborn infant developed a right sciatic nerve palsy after ischaemic necrosis of the gluteal region following umbilical arterial catheterization. The nerve lesion was believed to be caused by entrapment and compression by scar tissue. Recovery was slow and remained incomplete up to 6 months of age. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00439407
更新日期：1986-09-01 00:00:00
abstract：:In this study, we compare the prevalence of alcohol and cigarette use among Polish adolescents with type 1 diabetes mellitus (T1DM) (n = 209), aged 15-18 years, with that of a large cohort of their healthy peers, using standardized questionnaire used in the European School Survey Project on Alcohol and Drugs (ESPAD). ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-2895-y
更新日期：2017-06-01 00:00:00
abstract：UNLABELLED:Papillomas of the genital region are rare benign tumours causing sanguineous vaginal discharge in prepubertal girls. We report on a papilloma of the cervix in a 2-year-old girl. We characterize the tumour immunohistochemically and give a brief review about the current literature. CONCLUSION:Genital tract pa...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310050609
更新日期：1997-04-01 00:00:00
abstract：UNLABELLED:The aim of this study was to analyze changes in adipose tissue (AT) distribution, intrahepatic lipids (IHL), and insulin resistance (IR) among a group of obese adolescents undergoing a 7-months low-level lifestyle intervention. Thirty-nine obese Caucasian adolescents (mean age 13.9 years, body mass index sta...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-015-2577-6
更新日期：2015-12-01 00:00:00
abstract：:Despite advancement in medical care, Rh alloimmunisation remains a major cause of neonatal hyperbilirubinaemia, neuro-morbidity, and late-onset anaemia. Delayed cord clamping (DCC), a standard care now-a-days, is yet not performed in Rh-alloimmunised infants due to paucity of evidence. Hence, we randomised these infan...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03578-8
更新日期：2020-06-01 00:00:00
abstract：UNLABELLED:In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. [8]. Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310000452
更新日期：2000-08-01 00:00:00
abstract：:The aim of this study was to assess the influence of active and passive maternal smoking on placenta total oxidant/antioxidant status in term infants. The levels of cord blood total antioxidant capacity (TAC), total oxidant status (TOS), and oxidative stress index (OSI) were measured in samples of fetal placental tiss...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1338-9
更新日期：2011-05-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/s004310051316
更新日期：2000-07-01 00:00:00
abstract：:Vitamin D is important for calcium homeostasis, muscle, and bone health. It has also immunomodulatory capacities in vivo and in vitro. Regulatory T cells (Treg) have been found to suppress a number of T cell-mediated immune disorders, including allergic responses and autoimmune diseases. This study aimed to investigat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1688-6
更新日期：2012-08-01 00:00:00
abstract：UNLABELLED:The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium channelopathies...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014403
更新日期：2000-12-01 00:00:00
abstract：:Histochemical and immunohistochemical studies performed in only a few cases of sinus histiocytosis with massive lymphoadenopathy (SHML) indicated that SHML cells belong to the macrophage--histiocyte system, though their exact origin is still uncertain. We analyzed the morphological, antigenic and enzymatic characteris...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957571
更新日期：1992-09-01 00:00:00
abstract：:Two siblings were found to be affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one of which died suddenly and unexpectedly on the 3rd day of life suffering from extreme hypoketotic hypoglycaemia. The younger sibling started to have feeding problems, lowered consciousness, and liver dysfunction at the...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01963564
更新日期：1991-01-01 00:00:00
abstract：:The effect of intranasal LH-RH on cryptorchidism was investigated in 45 prepubertal boys with 68 undescended testes. A daily dose of 1.2 mg LH-RH was given for 4 weeks. A total of 16 testes (24%) descended. Follow-up examination 5 years later showed that relapse had occurred in two cases. Fifty-two testes did not desc...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/BF00452869
更新日期：1987-01-01 00:00:00
abstract：:The involvement of minors in clinical research is inevitable to catch up with the lack of drugs labeled for pediatric use. To encourage the responsible conduct of pediatric clinical trials in the EU, an extensive legal framework has been developed over the past decade in which the practical, ethical, legal, social, an...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0915-7
更新日期：2009-10-01 00:00:00
abstract：:Two patients with chronic granulomatous disease who had previously been intolerant to trimethoprim-sulfamethoxazole because of various adverse reactions completed a desensitisation protocol with a favourable clinical outcome. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-0944-6
更新日期：2002-06-01 00:00:00
abstract：UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310100790
更新日期：2001-09-01 00:00:00
