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Monte Andrew A - - 2010
The aim of this review was to describe a patient with serotonin toxicity after an overdose of dextromethorphan and chlorphenamine and to perform a systematic literature review exploring whether dextromethorphan and chlorphenamine may be equally contributory in the development of serotonin toxicity in overdose. A Medline literature review was undertaken ...
Vasas Peter - - 2011
Congenital microgastria is a rare developmental disorder with only 59 previously reported cases. Most of the patients undergoing reconstructive surgery are in early infancy, providing gastric augmentation to achieve optimal thrive. The Hunt-Lawrence pouch is the standard surgical treatment in infancy, but late surgery in early adulthood requires different approach. ...
Toledo P - - 2011
Lipid emulsion has recently emerged as a potential antidote for local anesthetic systemic toxicity. This review examines the literature and guidelines for administration of lipid emulsion in the setting of advanced cardiac life support.
Kaidar-Person Orit - - 2011
Single-dose pegfilgrastim is commonly used for the prophylaxis of neutropenia in patients receiving myelotoxic chemotherapy. We report a case of a 69-year-old man who was treated with chemotherapy for small-cell lung cancer and mistakenly self-administered a 36 mg overdose of pegfilgrastim, a sixfold increase over the scheduled dose.
Papantoniou Nikolaos - - 2010
We present a case report of a foetus with Prune-Belly syndrome (PBS) which was diagnosed sonographically during the 13th week of gestation and review of the literature. Sonographic diagnosis was based on abnormally distended urinary bladder and abdomen and absence of 'keyhole sign'. Termination was performed on parental request and ...
Golabi Mahin - - 2010
Karyotypic discordance between different tissues in an individual is uncommon. We report on a patient with multiple congenital anomalies and mosaicism for monosomy 13 limited to fibroblasts. Findings include microcephaly, agenesis of the corpus callosum, bilateral posterior colobomas, cataract and optic nerve dysplasia, patent foramen ovale, renal hypoplasia, hypospadias and ...
Tonni Gabriele - - 2011
Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000-1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have ...
Zangen R - - 2010
This study was carried out to determine the prognosis, and the clinical approach, in fetuses with umbilical cord cysts, during the second and third trimesters of gestation, according to our experience and data in the current literature. We identified 10 fetuses with umbilical cord cysts that were diagnosed during the ...
Pajkrt E - - 2010
The objective was to improve the prenatal diagnosis of Brachmann-de Lange syndrome (BDLS) by defining the sonographic criteria. Retrospective review of Fetal Medicine Unit (FMU) notes from 1998 to 2009 to identify all cases seen with a final diagnosis of BDLS. Literature review undertaken to ascertain all cases where sonographic ...
Hartge David Rafael - - 2010
This report describes the perinatal management of a prenatally detected choroid plexus papilloma in an otherwise unaltered singleton pregnancy of a healthy woman. After elective Caesarean section, a successful embolization of the feeding vessel followed by a craniotomy and complete removal of the remaining tumor were performed. Histological examination confirmed ...
Xu Jie - - 2010
(1) To present a case with prenatally detected idic Yp. (2) To review literature to assess if there is a correlation between the proportion of amniocytes with idic Yp and phenotypic sex. Seventeen cases were reviewed. Amniocentesis was done due to positive integrated prenatal screening result. Interphase FISH was normal ...
Lee Young Bok - - 2010
Localized involutional lipoatrophy (LIL) is a rare distinctive idiopathic form of localized lipoatrophy. The characteristic features in histopathology of LIL are diminutive fat lobules composed of small adipocyte resembling fetal fat tissue. LIL is not a well-known disorder, there have been only a few reports on LIL in the English ...
Costain Gregory - - 2011
Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long ...
Macdonald A H - - 2010
Only 12 cases with a cytogenetically visible deletion of the short arm of chromosome 12 (12p) have been reported so far. The difference in clinical features observed in these patients indicates that there is no distinct phenotype associated with this short arm deletion, although the existence of a del(12p) syndrome ...
Piersigilli Fiammetta - - 2010
We report the case of a vesiculopustular eruption associated with a transient myeloproliferative disorder (TMD) in a neonate with trisomy 21 syndrome. Examination of a skin biopsy showed a dermal mixed inflammatory infiltrate including atypical megakaryoblasts. As the white blood cell count spontaneously normalized, the eruption disappeared. This case report ...
Udayakumaran Suhas - - 2011
Cavernous angiomas (CA) are congenital intraparenchymal vascular malformations that contain sinusoidal spaces lined by a single-layer endothelium, separated by collagenous stroma with no intervening brain parenchyma. Despite the congenital origin of CA, they rarely present in the neonatal and prenatal period. In this paper, we present a case report of ...
Dudar J Christopher - - 2010
Cranial neural tube defect, or anencephaly, is the absence of normal brain development because of severe developmental defect in the fetus. While the current incidence of human anencephaly ranges between 1 to 5 per 1000 births, and was higher prior to folic acid supplementation, there is no discussion of anencephaly ...
Weichert Jan - - 2010
Two cases of aneurysmatic bulgings of the free left ventricular wall and the interventricular septum, respectively diagnosed in late third trimester pregnancies are described. The diagnosis was confirmed by meticulous echocardiographic examination of the fetuses, who were referred for dysrhythmia. Based on sonographic findings and analysis of the clinical outcome, ...
Abitayeh Georges - - 2010
OBJECTIVE: The purpose of this series was to report the contribution of 3-dimensional ultrasonographic (3DUS) technologies in performing the prenatal diagnosis of main stem bronchial atresia (BA). METHODS: We report 2 cases in which the prenatal diagnosis of main stem BA was performed using 3DUS technologies. Both fetuses presented with ...
Kulkarni Akhil Muralidhar - - 2010
Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non-infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal ...
Manoranjan Branavan - - 2010
Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system, identified by an abnormal increase in the size of one cerebral hemisphere. HME may present as either a syndromic or isolated case. To date the literature on HME has focused primarily on non-fetal pediatric patients, largely related to surgical ...
Rush Eric T - - 2010
We present a single case of a young man with multiple congenital anomalies. For years, a unifying diagnosis could not be made. As his case developed, more clues came to light, but still no recognizable pattern could be identified. Ultimately, the combination of orofacial clefting, neurosensory hearing loss, choroideremia, and ...
Beyazyurek Cagri - - 2010
OBJECTIVE: To report a healthy birth after preimplantation genetic diagnosis (PGD) performed for a consanguineous couple carrying an identical familial reciprocal translocation in both partners. DESIGN: Case report. SETTING: In vitro fertilization (IVF) clinic and genetic laboratory in a private hospital. PATIENT(S): Consanguineous couple carrying the same balanced reciprocal translocation: ...
Abraham R J - - 2010
The EXIT (Ex utero Intrapartum Treatment) procedure is done in cases where difficulty is anticipated in neonatal airway establishment at delivery and is done at the time of caesarean section. The partially delivered fetus is maintained on placental circulation while airway is established and this is carried out by a ...
Rao Usha - - 2010
Idiopathic Infantile Arterial Calcification (IIAC) is a rare syndrome of unknown cause characterized by disruption and calcification of the internal elastic laminae of fetal arteries with calcium deposits leading to fibrosis and occlusion of the arteries. The diagnosis is often made at post-mortem examination. However, in a few cases it ...
Liu Kenian - - 2010
Only a few karyotypes of neurofibromas have been documented in the literature. In this report, we describe two new cases in which conventional cytogenetics demonstrated the presence of abnormal clones. Combining karyotypes of the nine previously reported cases, we found that the most frequent structural rearrangements involved chromosome 9p. Including ...
Khriesat Wadah M - - 2010
Neonatal extremity gangrene is rare, even rarer are those born with evidence of intrauterine vascular occlusion. Intrauterine limb ischemia has been attributed to several etiological factors which include thromboembolic disease occluding the arteries of the affected limb or compression of the limb during intrauterine life. In this report, we present ...
Tosti Antonella - - 2010
Hair abnormalities observed in epidermolysis bullosa (EB) are of variable severity and include mild hair shaft abnormalities, patchy cicatricial alopecia, cicatricial alopecia with a male pattern distribution, and alopecia universalis. Alopecia is usually secondary to blistering, and scalp areas more exposed to friction, such as the occipital area, are involved ...
Ba?ci Soyhan - - 2010
Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with ...
Jouyban Abolghasem - - 2010
N-Methyl-2-pyrrolidone (NMP) or Pharmasolve is very strong solubilizing agent and it has important applications in different fields of industry. This review presents NMP physicochemical characteristics, application especially in pharmaceutical sciences, pharmacokinetic and toxicity. Characteristics of NMP such as physicochemical properties, solubilization efficacy, toxicity and adverse effects were compared with other ...
Varras Michail - - 2010
Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks' gestation confirmed by post mortem radiography and pathological examination. ...
Singh Virendra - - 2010
Arteriovenous malformations of jaw are extremely rare conditions that can result in disastrous complications, if handled carelessly. Although various treatment modalities have been advocated in the literature, there seems to be no complete consensus on a suitable treatment in these cases. This report highlights the importance of correct diagnosis and ...
Panda Britta - - 2009
Aneurysm of the umbilical vessels is a rare abnormality and has seldom been diagnosed prenatally. We report a case in which dilatation of the intra-amniotic umbilical cord was seen on prenatal ultrasound at 34-weeks gestation. This was believed to represent an umbilical vein aneurysm and was confirmed on subsequent pathological ...
Suri Vanita - - 2009
Sustained fetal supraventricular tachycardia (SVT) with a heart rate of approximately 210 bpm may lead to increased atrial and venous pressures and congestive heart failure. There is no clear consensus regarding the best drug-treatment regimens for fetal SVT. However, considerable nonrandomized experience in the transmaternal treatment of fetal SVT is ...
Anderka Marlene T - - 2009
Mycophenolate mofetil (MMF) (CellCept) is an immunosuppressant drug that is teratogenic in rats and rabbits. Reports of malformations in 13 offspring of women exposed to MMF in pregnancy raise concern that MMF is also a human teratogen. We report an additional child with malformations following prenatal exposure to MMF and ...
Morales Carme - - 2009
OBJECTIVE: To describe the molecular and cytogenetic characterization of two different prenatal cases of androgenetic/biparental mosaicism and review the different possible mechanisms of origin in each case. DESIGN: Case study and literature review. SETTING: Tertiary medical center (prenatal diagnosis unit). PATIENT(S): A 26-year-old pregnant woman referred for suspected partial mole ...
Jurkiewicz Elzbieta - - 2010
We present the young infant with the extremely rare brain abnormality-brainstem disconnection. Additionally, several extracerebral abnormalities were diagnosed: bilateral anotia, micrognatia, hypertelorism, scoliosis, ribs and vertebral anomalies. MR brain examination precisely demonstrated absence of the pons, with disruption between midbrain and hypoplastic medulla oblongata. The thin strands connecting the medulla ...
Bekdache Gharid N - - 2009
We sought to identify risk factors of prenatal presentation of holoprosencephaly associated with triploidy. A case report is presented with review of the literature performed using the PubMed database. The latest search was done in June 2008. Literature review showed 11 reports with a total of 15 cases of holoprosencephaly ...
Lyons Jeremiah A - - 2009
On the basis of the scarcity of reports in the veterinary literature, it appears that Propionibacterium spp. are rarely associated with disease or isolated from cattle tissues. Recently, Propionibacterium spp. has been associated with multifocal abscessation in cattle. This report describes a case of necrosuppurative placentitis and abortion in an ...
Lenzini Elisabetta - - 2009
Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation ...
Germano Jennifer M - - 2009
Translocations are important tools in the field of conservation. Despite increased use over the last few decades, the appropriateness of translocations for amphibians and reptiles has been debated widely over the past 20 years. To provide a comprehensive evaluation of the suitability of amphibians and reptiles for translocation, we reviewed ...
Schwendemann Wade D - - 2009
OBJECTIVE: The purpose of this study was to identify the most common prenatal sonographic findings in fetuses with complete trisomy 9. METHODS: A retrospective review of all cases of trisomy 9 at 5 participating institutions over a 15-year interval was conducted. Indications for referral and sonographic findings in each case ...
Kitchens David M - - 2009
Hydronephrosis is one of the most common abnormalities detected on routine prenatal ultrasounds, being noted in up to 1% of fetuses. Rarely, severe hydronephrosis coexists with oligohydramnios, which portends a poor prognosis. We review the most recent literature on the results of prenatal intervention in this setting. Presently, the first ...
Rossi N F - - 2009
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case report and a comparative review of clinical findings on this condition, focusing on speech-language development, cognitive abilities and swallowing evaluation. We ...
Coskun A - - 2009
OBJECTIVE: To discuss a fetus with craniorachischisis diagnosed antenatally and to review the literature. METHOD: Case report. RESULTS: Craniorachischisis was detected on ultrasound scan in a fetus at gestational week 13. Pregnancy was terminated and diagnosis was verified postnatally. CONCLUSION: Craniorachischisis is a rare and severe form of neural tube ...
Tsai Pei-Yin - - 2009
PURPOSE: Fetal thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. Therefore, antenatal diagnosis of TD is mandatory in routine obstetrical care. However, because TD is relatively rare, prenatal detection is not an easy task. In the past, 2-dimensional (2D) sonography had been applied as the mainstay of prenatal diagnosis of ...
Powis Z - - 2009
Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 ...
Schott Sarah - - 2009
OBJECTIVE: Fetal congenital cystic adenomatoid malformation (CCAM) is a rare lung abnormality with a highly variable prognosis depended on the presence of fetal hydrops and the size of the cysts. In case of fetal hydrops the prognosis is fatal without intervention. METHODS AND DESIGN: Case report and literature review. SETTING: ...
Pasquier Laurent - - 2009
Rhombencephalosynapsis is an uncommon cerebellar malformation defined by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are still unknown, and to date, no animal models are available. Ultrasound diagnosis is generally suspected after 22 weeks of gestation, and usually the abnormality is ...
Gerdes Tommy - - 2008
BACKGROUND: Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS: A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic fluids (AF) were analyzed using ...
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