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Fetal Hydantoin Syndrome

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21. Teratology and Drug Use During Pregnancy (Follow-up)

spaced nipples, umbilical or inguinal hernia, and rib anomalies. Internal abnormalities include variable coarctation of the aorta, endocardial cushion defect, double-outlet right ventricle, ventricular septal defect, atrial septal defect, bicuspid pulmonic valve, and intestinal malrotation. Ambiguous genitalia are rarely associated with this syndrome. A patient with the dysmorphic characteristics of fetal hydantoin syndrome presented with unusual hyperpigmentation of several fingernails. Another (...) in pregnancy, phenytoin can cause a syndrome of birth defects referred to with various names, such as Dilantin congenital defects, fetal hydantoin syndrome (FHS), Meadow syndrome, congenital hydantoin syndrome, Dilantin syndrome, fetal Dilantin syndrome, fetal phenytoin syndrome, and hydantoin syndrome. Various malformations have been reported to occur because of phenytoin intake during pregnancy. Pregabalin (Lyrica) Old Categorization: Pregnancy category – C Pregnancy risk exposure: Pregnant patients

2014 eMedicine.com

22. Women's Health and Epilepsy (Follow-up)

% in women with epilepsy taking AEDs. [ ] Minor malformations such as facial dysmorphisms and digital hypoplasia occur in 6-20% of pregnancies with in utero exposure to AEDs. [ ] These malformations are often subtle and disappear with maturation through the first year of life. Evidence for medication-specific syndromes (eg, fetal hydantoin syndrome, fetal barbiturate syndrome) is lacking; because similar minor anomalies have been reported with in utero exposure to multiple different AEDs, fetal (...) remission of epilepsy. [ ] Although most epilepsy syndromes are equally or more commonly found in males than in females, childhood and the syndrome of photosensitive epilepsy are more common in females. [ ] In addition, some genetic disorders with associated epilepsy (eg, Rett syndrome and Aicardi syndrome) and eclamptic seizures in pregnancy can only occur in females. The age-adjusted incidences for simple and complex partial and generalized tonic-clonic seizures are higher for men than women

2014 eMedicine.com

23. Tetralogy of Fallot (Diagnosis)

with fetal hydantoin syndrome or fetal carbamazepine syndrome. In addition, as one of the conotruncal malformations, tetralogy of Fallot can be associated with a spectrum of lesions known as CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia). Cytogenetic analysis may demonstrate deletions of a segment of chromosome band 22q11 (DiGeorge critical region). Ablation of cells of the neural crest has been shown to reproduce conotruncal malformations. These abnormalities (...) be associated with an increased risk for tetralogy of Fallot, whereas the risk is potentially reduced with 936C>T polymorphism. [ ] Prenatal factors associated with a higher incidence of tetralogy of Fallot include maternal rubella (or other viral illnesses) during pregnancy, poor prenatal nutrition, maternal alcohol use, maternal age older than 40 years, maternal phenylketonuria (PKU) birth defects, and diabetes. Children with Down syndrome also have a higher incidence of tetralogy of Fallot, as do infants

2014 eMedicine Emergency Medicine

24. Toxicity, Phenytoin (Diagnosis)

congenital anomalies have been reported from usage during pregnancy (see fetal hydantoin syndrome). No scientific data have demonstrated that effect or outcome of acute toxicity is based on sex. Age Neonates and elderly patients are at greater risk for toxicity because of impaired metabolism and decreased protein binding. Decreased protein binding contributes to higher levels of biologically active medication at therapeutic measured total phenytoin blood levels (see Lab Studies). Of the 1584 reported (...) serum concentration of the drug. Only the free unbound phenytoin has biological activity. Because CNS tissue levels are higher than in serum, levels may underestimate CNS concentrations of phenytoin. [ ] Population groups that are predisposed to elevated free phenytoin levels include neonates, elderly persons, and individuals with uremia, hypoalbuminemia (due to pregnancy, nephrotic syndrome, malignancy, malnutrition), or hyperbilirubinemia. These patients may exhibit signs of toxicity when drug

2014 eMedicine Emergency Medicine

25. Hernias (Overview)

. Aberrant collagen states (eg, Ehlers-Danlos, fetal hydantoin, Freeman-Sheldon, Hunter-Hurler, Kniest, Marfan, and Morquio syndromes), have increased rates of hernia formation, as do osteogenesis imperfecta, pseudo-Hurler polydystrophy, and Scheie syndrome. Acquired elastase deficiency also can lead to increased hernia formation. In 1981, Cannon and Read found that the increased serum elastase and decreased alpha 1 -antitrypsin levels associated with smoking contribute to an increased rate of hernia (...) by the rectus sheath. Proof that umbilical hernias persist from childhood to present in adulthood is only hinted at by an increased incidence among black Americans. Multiparity, increased abdominal pressure, and a single midline decussation are associated with umbilical hernias. Congenital hypothyroidism, fetal hydantoin syndrome, Freeman-Sheldon syndrome, Beckwith-Wiedemann syndrome, and disorders of collagen and polysaccharide metabolism (such as Hunter-Hurler syndrome, osteogenesis imperfecta, and Ehlers

2014 eMedicine Emergency Medicine

26. Hernias (Follow-up)

. Aberrant collagen states (eg, Ehlers-Danlos, fetal hydantoin, Freeman-Sheldon, Hunter-Hurler, Kniest, Marfan, and Morquio syndromes), have increased rates of hernia formation, as do osteogenesis imperfecta, pseudo-Hurler polydystrophy, and Scheie syndrome. Acquired elastase deficiency also can lead to increased hernia formation. In 1981, Cannon and Read found that the increased serum elastase and decreased alpha 1 -antitrypsin levels associated with smoking contribute to an increased rate of hernia (...) by the rectus sheath. Proof that umbilical hernias persist from childhood to present in adulthood is only hinted at by an increased incidence among black Americans. Multiparity, increased abdominal pressure, and a single midline decussation are associated with umbilical hernias. Congenital hypothyroidism, fetal hydantoin syndrome, Freeman-Sheldon syndrome, Beckwith-Wiedemann syndrome, and disorders of collagen and polysaccharide metabolism (such as Hunter-Hurler syndrome, osteogenesis imperfecta, and Ehlers

2014 eMedicine Emergency Medicine

27. Psychosocial and Environmental Pregnancy Risks (Diagnosis)

the role of drug therapy. Antiepileptic drugs with the potential for fetal malformations include the following: Valproic acid: Valproic acid is associated with a 1-2% increased risk of neural tubal defects, particularly at doses above 1000 mg/d. Phenytoin: Phenytoin is known to decrease the absorption of folate and is associated with characteristic fetal hydantoin syndrome, with effects including growth deficiency, microcephaly, dysmorphic facies, and mental deficiency; this is noted in 11% of fetuses (...) an anticonvulsant is complicated by the fact that seizure itself may predispose the fetus to an anomaly. In late pregnancy, placental hypoxia can occur during prolonged seizure. In addition, many common anticonvulsants can contribute to folate deficiency. Heritable epilepsy also may be associated with other genetic abnormalities. The term fetal anticonvulsant syndrome has been used to describe an embryopathy associated with antiepileptic drugs that is variably characterized by major malformations, microcephaly

2014 eMedicine.com

28. Seizure Disorders in Pregnancy (Diagnosis)

of abnormal electroencephalogram (EEG) findings, higher rates of developmentally delayed children, and lower intelligence quotient (IQ) scores. Phenytoin Fetal hydantoin syndrome was first described in 1973 by Loughnan et al. [ ] It consists of an array of anomalies, including craniofacial anomalies, distal digital hypoplasia, epicanthal folds, hypertelorism, low-set ears, and developmental delay. The early descriptions of this syndrome were noted in 12 infants, 11 of whom had been exposed to other AEDs (...) and with normal controls. Phenobarbital and primidone Infants exposed to phenobarbital have been reported to have many of the findings observed in infants with fetal hydantoin syndrome and fetal alcohol syndrome. Furthermore, many of the infants initially described as having fetal hydantoin syndrome were also exposed to phenobarbital. A drug registry reported 5 (6.5%) of 77 patients who had received phenobarbital monotherapy had fetuses with major malformations, compared with a background rate of 1.6

2014 eMedicine.com

29. Teratology and Drug Use During Pregnancy (Diagnosis)

spaced nipples, umbilical or inguinal hernia, and rib anomalies. Internal abnormalities include variable coarctation of the aorta, endocardial cushion defect, double-outlet right ventricle, ventricular septal defect, atrial septal defect, bicuspid pulmonic valve, and intestinal malrotation. Ambiguous genitalia are rarely associated with this syndrome. A patient with the dysmorphic characteristics of fetal hydantoin syndrome presented with unusual hyperpigmentation of several fingernails. Another (...) in pregnancy, phenytoin can cause a syndrome of birth defects referred to with various names, such as Dilantin congenital defects, fetal hydantoin syndrome (FHS), Meadow syndrome, congenital hydantoin syndrome, Dilantin syndrome, fetal Dilantin syndrome, fetal phenytoin syndrome, and hydantoin syndrome. Various malformations have been reported to occur because of phenytoin intake during pregnancy. Pregabalin (Lyrica) Old Categorization: Pregnancy category – C Pregnancy risk exposure: Pregnant patients

2014 eMedicine.com

30. Tetralogy of Fallot (Diagnosis)

with fetal hydantoin syndrome or fetal carbamazepine syndrome. In addition, as one of the conotruncal malformations, tetralogy of Fallot can be associated with a spectrum of lesions known as CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia). Cytogenetic analysis may demonstrate deletions of a segment of chromosome band 22q11 (DiGeorge critical region). Ablation of cells of the neural crest has been shown to reproduce conotruncal malformations. These abnormalities (...) be associated with an increased risk for tetralogy of Fallot, whereas the risk is potentially reduced with 936C>T polymorphism. [ ] Prenatal factors associated with a higher incidence of tetralogy of Fallot include maternal rubella (or other viral illnesses) during pregnancy, poor prenatal nutrition, maternal alcohol use, maternal age older than 40 years, maternal phenylketonuria (PKU) birth defects, and diabetes. Children with Down syndrome also have a higher incidence of tetralogy of Fallot, as do infants

2014 eMedicine.com

31. Hernias (Treatment)

. Aberrant collagen states (eg, Ehlers-Danlos, fetal hydantoin, Freeman-Sheldon, Hunter-Hurler, Kniest, Marfan, and Morquio syndromes), have increased rates of hernia formation, as do osteogenesis imperfecta, pseudo-Hurler polydystrophy, and Scheie syndrome. Acquired elastase deficiency also can lead to increased hernia formation. In 1981, Cannon and Read found that the increased serum elastase and decreased alpha 1 -antitrypsin levels associated with smoking contribute to an increased rate of hernia (...) by the rectus sheath. Proof that umbilical hernias persist from childhood to present in adulthood is only hinted at by an increased incidence among black Americans. Multiparity, increased abdominal pressure, and a single midline decussation are associated with umbilical hernias. Congenital hypothyroidism, fetal hydantoin syndrome, Freeman-Sheldon syndrome, Beckwith-Wiedemann syndrome, and disorders of collagen and polysaccharide metabolism (such as Hunter-Hurler syndrome, osteogenesis imperfecta, and Ehlers

2014 eMedicine Emergency Medicine

32. Abdominal Hernias (Overview)

. Aberrant collagen states (eg, Ehlers-Danlos, fetal hydantoin, Freeman-Sheldon, Hunter-Hurler, Kniest, Marfan, and Morquio syndromes), have increased rates of hernia formation, as do osteogenesis imperfecta, pseudo-Hurler polydystrophy, and Scheie syndrome. Acquired elastase deficiency also can lead to increased hernia formation. In 1981, Cannon and Read found that the increased serum elastase and decreased alpha 1 -antitrypsin levels associated with smoking contribute to an increased rate of hernia (...) by the rectus sheath. Proof that umbilical hernias persist from childhood to present in adulthood is only hinted at by an increased incidence among black Americans. Multiparity, increased abdominal pressure, and a single midline decussation are associated with umbilical hernias. Congenital hypothyroidism, fetal hydantoin syndrome, Freeman-Sheldon syndrome, Beckwith-Wiedemann syndrome, and disorders of collagen and polysaccharide metabolism (such as Hunter-Hurler syndrome, osteogenesis imperfecta, and Ehlers

2014 eMedicine Surgery

33. Hernias (Diagnosis)

. Aberrant collagen states (eg, Ehlers-Danlos, fetal hydantoin, Freeman-Sheldon, Hunter-Hurler, Kniest, Marfan, and Morquio syndromes), have increased rates of hernia formation, as do osteogenesis imperfecta, pseudo-Hurler polydystrophy, and Scheie syndrome. Acquired elastase deficiency also can lead to increased hernia formation. In 1981, Cannon and Read found that the increased serum elastase and decreased alpha 1 -antitrypsin levels associated with smoking contribute to an increased rate of hernia (...) by the rectus sheath. Proof that umbilical hernias persist from childhood to present in adulthood is only hinted at by an increased incidence among black Americans. Multiparity, increased abdominal pressure, and a single midline decussation are associated with umbilical hernias. Congenital hypothyroidism, fetal hydantoin syndrome, Freeman-Sheldon syndrome, Beckwith-Wiedemann syndrome, and disorders of collagen and polysaccharide metabolism (such as Hunter-Hurler syndrome, osteogenesis imperfecta, and Ehlers

2014 eMedicine Emergency Medicine

34. Tetralogy of Fallot (Overview)

with fetal hydantoin syndrome or fetal carbamazepine syndrome. In addition, as one of the conotruncal malformations, tetralogy of Fallot can be associated with a spectrum of lesions known as CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia). Cytogenetic analysis may demonstrate deletions of a segment of chromosome band 22q11 (DiGeorge critical region). Ablation of cells of the neural crest has been shown to reproduce conotruncal malformations. These abnormalities (...) be associated with an increased risk for tetralogy of Fallot, whereas the risk is potentially reduced with 936C>T polymorphism. [ ] Prenatal factors associated with a higher incidence of tetralogy of Fallot include maternal rubella (or other viral illnesses) during pregnancy, poor prenatal nutrition, maternal alcohol use, maternal age older than 40 years, maternal phenylketonuria (PKU) birth defects, and diabetes. Children with Down syndrome also have a higher incidence of tetralogy of Fallot, as do infants

2014 eMedicine Emergency Medicine

35. Toxicity, Phenytoin (Overview)

congenital anomalies have been reported from usage during pregnancy (see fetal hydantoin syndrome). No scientific data have demonstrated that effect or outcome of acute toxicity is based on sex. Age Neonates and elderly patients are at greater risk for toxicity because of impaired metabolism and decreased protein binding. Decreased protein binding contributes to higher levels of biologically active medication at therapeutic measured total phenytoin blood levels (see Lab Studies). Of the 1584 reported (...) serum concentration of the drug. Only the free unbound phenytoin has biological activity. Because CNS tissue levels are higher than in serum, levels may underestimate CNS concentrations of phenytoin. [ ] Population groups that are predisposed to elevated free phenytoin levels include neonates, elderly persons, and individuals with uremia, hypoalbuminemia (due to pregnancy, nephrotic syndrome, malignancy, malnutrition), or hyperbilirubinemia. These patients may exhibit signs of toxicity when drug

2014 eMedicine Emergency Medicine

36. Prophylactic Administration of Natural Progesterone in the Prevention of Preterm Delivery in Twin Pregnancies

not use other medicines that can alter the progesterone effects, such as: barbituric, carbamazepine, hydantoin, rifampicin, betablockers, teofiline or ciclosporin. Porphyria, otoscleroses, malignant disease or severe depressive state. Exclusion Criteria: Premature rupture of membranes diagnosed at the moment of recruitment. Subsequent diagnosis of major fetal abnormalities. Twin to twin transfusion syndrome diagnosed during the course of the pregnancy. Presence of ovular infection. Death of one (...) for Study: Female Accepts Healthy Volunteers: Yes Criteria Inclusion Criteria: Naturally conceived diamniotic twin pregnancies. Absence of major fetal abnormalities (such as neural tube defects, abdominal wall defects, cardiac defects, hydrocephalus, malformations that course with polyhydramnios) at the anomaly scan. Gestational age between 18 - 21+6weeks at the moment of randomization. Patients that are not allergic to the progesterone capsule excipients (arachis oil, soy and lecithin). Patients who do

2009 Clinical Trials

37. Fallot's Tetralogy

with DiGeorge's syndrome, fetal alcohol syndrome, maternal phenylketonuria and fetal hydantoin syndrome. They are part of a range of lesions known as CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcaemia) linked to deletions of a segment of chromosome band 22q11 (DiGeorge's critical region). Presentation Fetal screening and echocardiography have led to an increase in prenatal diagnosis. [ ] Most cases of TOF in the UK are now either diagnosed antenatally, present with low (...) septal defect, which allows the pressures in the two ventricles to become equal. Right ventricular outflow obstruction. There is also right-sided aortic arch in around 20% of cases and atrial septal defect in 8-10% - pentalogy of Fallot. Epidemiology TOF is the most common form of cyanotic congenital heart disease. [ ] There is an incidence of 1 in 3,600 live births. [ ] TOF is a well-recognised feature of the 22q11 microdeletion syndrome and trisomy 21 (Down's syndrome). [ ] TOF may be associated

2008 Mentor

38. MRI for the detection of foetal abnormalities

abnormalities that are present at birth”. The states and territories of Australia all use various combinations of birth anomalies in their definition including structural (eg spina bifida), anatomical, functional, chromosomal (eg Down’s Syndrome), genetic and biochemical (eg phenylketonuria). No one state or territory uses all types of birth anomaly in their definition (Birch et al 2004). In the literature a birth anomaly is commonly referred to as a birth defect or a congenital anomaly. A list of birth (...) trisomy 21 or Down’s Syndrome (13.0 per 10,000 births) (AIHW & UNSW 2001). More recent data are available from birth defects registers from the individual states (Victoria, South Australia and Western Australia). The 2003 Annual Report of the South Australian Birth Defects Register indicates that in the year 2003 there were 798 birth defects representing 4.5 per cent of all births 5 . Birth defect rates increased in male children (4.7% versus 3.9% of females) and in multiple births (4.8% versus 4.5

2007 Australia and New Zealand Horizon Scanning Network

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