Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 3-day-old infant with Beckwith-Wiedemann syndrome who required anesthetic care during closure of an abdominal wall defect is presented. Beckwith-Wiedemann syndrome comprises a constellation of clinical features, including macroglossia, macrosomia, omphalocele, visceromegaly, mild microcephaly, facial nevus flammeus, horizontal earlobe creases, and renal medullary dysplasia. Due to the high rate of omphalocele in this syndrome, anesthetic care is frequently required during the neonatal period. Many of these infants (greater than 50%) are born prematurely. Therefore, their anesthetic care may be further complicated by associated diseases of prematurity, such as hyaline membrane disease. Additional anesthetic implications of this syndrome relate to the occurrence and management of hypoglycemia and polycythemia. Careful intraoperative management of glucose homeostasis is particularly important, since eventual neurologic outcome and intelligence will be normal provided prolonged neonatal hypoglycemia is avoided. Preoperative evaluation of the cardiac and genitourinary system, including echocardiography and renal ultrasound, are recommended because of the frequent occurrence of associated anomalies with omphalocele.
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PMID:Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome. 145 18

Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased risk for Wilms tumor, adrenal cortical carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma, among others. Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy. The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ1OT1, and CDKN1C). Topics discussed in this article are organized as a series of perspectives: general, historical, epidemiologic, clinical, pathologic, genetic/molecular, diagnostic, and differential diagnostic.
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PMID:Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. 1601 Apr 95

From 1990 to 2004, there were 23 consecutive patients with hepatoblastoma treated at Mackay Memorial Hospital in Taipei, Taiwan. There were 7 patients of stage I, 3 of stage II, 13 of stage III, and none had stage IV disease. Two siblings had congenital hepatoblastoma and both survived. Two patients were prematurity. Beckwith-Wiedemann syndrome, isosexual precocity, chronic B hepatitis presented in 1 patient each. In addition to surgery, we used cisplatin 90 mg/m/d on day 1 and epirubicin 25 mg/m/d for days 1 to 3 as first-line chemotherapy. Each course was repeated every 3 weeks. Epirubicin was chosen because of its lower cardiotoxicity. Carboplatin/etoposide and vincristine/cyclophosphamide/5-fluorouracil were the second-line chemotherapy for considering cumulative toxicity of first-line chemotherapy. If initial total excision was feasible, postoperative chemotherapy of 4 to 6 courses were given. Three patients died of progressive disease, infection, and relapse 1 each. The median duration of follow-up for 20 survived patients was 94 months. The 5-year event-free and overall survival rates were 73.9%+/-9.2% (SE) and 87%+/-7.0%, respectively. Tumor recurred in 5 patients. The commonest toxicity was febrile neutropenia. There was no cardiotoxicity event. In conclusion, with sequential combination of surgery and chemotherapy, the treatment results for hepatoblastoma were satisfactory as compared with other groups.
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PMID:Long-term treatment results of hepatoblastoma at a single institution in Taiwan. 1972 10

Two premature babies were admitted separately to the Neonatal Intensive Care Unit. One patient, a girl, presented with severe anaemia and thrombocytopaenia, the other, another girl, showed isolated thrombocytopaenia. During both pregnancies, ultrasound showed abnormalities of the placenta. The first patient also had intra-uterine growth restriction. A postpartum pathological examination showed abnormalities of both placentae consistent with placental mesenchymal dysplasia. Placental mesenchymal dysplasia is a rare condition which is associated with intra-uterine growth restriction, intra-uterine mortality, prematurity and Beckwith-Wiedemann syndrome. Thrombocytopaenia and anaemia are less commonly described in literature and are caused by micro-angiopathic haemolysis in the placenta. Both children had unrestricted growth and development patterns at one year and 6 months follow-up, respectively.
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PMID:[Haematological abnormalities in premature babies due to placental mesenchymal dysplasia]. 2035 28

The last three decades have witnessed a dramatic increase in the use of assisted reproductive technology (ART) so that now, in developed countries, 1.7% to 4.0% of all children are born after ART. Although absolute risks appear small, data from prospective and retrospective studies indicate increased risks of adverse maternal and perinatal outcomes after ART as compared with spontaneous conception. Recent studies suggest that underlying maternal factors and subfertility play an important role in some of these outcomes rather than the ART procedure itself. A significant risk of assisted conception is multiple pregnancies, but even singleton pregnancies achieved by ART are at a higher risk of hypertensive disease, diabetes, prematurity, low birth weight, and perinatal mortality even after adjusting for confounders. Couples undergoing ART procedures should be counseled in advance regarding increased risks of pregnancy complications and higher rates of obstetric interventions. Although conflicting data exist, studies of children born from ART suggest increased rates of congenital malformations, imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome), and marginally increased risk of cancer. However, the current evidence is inadequate, and prospective long-term studies are needed to eliminate the effect of confounders and draw definite conclusions about the long-term outcomes after ART. The absolute risk of imprinting disorders remains small, and routine screening is not recommended at present. The long-term outcomes after ART are difficult to evaluate because of the variability in ART methods and data reporting, and there is a need for standardized methodology for follow-up after ART.
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PMID:Reproductive outcomes after assisted conception. 2299 Apr 60

Mosaicism for genome-wide paternal uniparental disomy (UPD) has been reported in only seven live born individuals to date. Clinical presentation includes manifestations of multiple paternal UPD syndromes with high variability, likely due to the variable levels of mosaicism in different somatic tissues. We report an eighth case in a female patient with mosaicism for genome-wide paternal UPD which highlights the complex clinical presentation. Our patient had features of Beckwith-Wiedemann syndrome (BWS), Angelman syndrome, and congenital hyperinsulinism. The clinical findings included prematurity, organomegaly, hemihyperplasia, developmental delay, benign tumors, and cystic lesions. The diagnosis in our patient was established utilizing microarray-based genome-wide DNA methylation analysis performed on leukocyte DNA. Targeted multiplex ligation-dependent probe amplification (MLPA) analysis of chromosome regions 11p15 and 15q13 confirmed mosaicism for paternal UPD at these genomic regions. This case represents the first report of microarray-based genome-wide DNA methylation analysis in the diagnosis of genome-wide paternal UPD. The application of microarray-based genome-wide DNA methylation analysis on selected individuals with complex clinical presentations could be a valuable diagnostic tool to improve the detection rate of mosaic genome-wide paternal UPD. This approach, which screens many loci simultaneously, is more cost-effective and less labor-intensive than performing multiple targeted DNA methylation-based assays. Identification of individuals with mosaicism for genome-wide paternal UPD is an important goal as it confers a low recurrence risk for the family and identifies individuals who require surveillance due to increased tumor risk.
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PMID:Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. 2323 66

Anesthesia for partial glossectomy in a premature child with Beckwith-Wiedemann syndrome presents as a unique challenge to the Anesthesiologist. Airway management in patients presenting with macroglossia is especially significant and requires meticulous preparation and pre-operative assessment. This report delineates the anesthetic concerns such as an anticipated difficult airway due to a large tongue, prematurity, hypoglycemia and an oral cavity surgery and their management.
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PMID:Anesthetic management of tongue reduction in a case of Beckwith-Wiedemann syndrome. 2542 86

We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 247 BWS patients were compared by calculating gestational age-corrected standard deviation scores (SDS) and proportionality indexes to search for differences among IC1-GoM (n = 21), UPD (n = 87), IC2-LoM (n = 147), and CDKN1C mutation (n = 11) patients. In IC1-GoM subgroup, weight and length are higher than in other subgroups. Body proportionality indexes display the following pattern: highest in IC1-GoM patients, lowest in IC2-LoM/CDKN1C patients, intermediate in UPD ones. Prematurity was significantly more prevalent in the CDKN1C (64%) and IC2-LoM subgroups (37%). Fetal growth patterns are different in the four molecular subtypes of BWS and remarkably consistent with altered gene expression primed by the respective molecular mechanisms. IC1-GoM cases show extreme macrosomia and severe disproportion between weight and length excess. In IC2-LoM/CDKN1C patients, macrosomia is less common and associated with more proportionate weight/length ratios with excess of preterm birth. UPD patients show growth patterns closer to those of IC2-LoM, but manifest a body mass disproportion rather similar to that seen in IC1-GoM cases.
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PMID:Fetal growth patterns in Beckwith-Wiedemann syndrome. 2685 10