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 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper reports 15 examinations by magnetic resonance imaging (MRI) performed in pregnant women whose fetuses had cerebral malformations identified by sonography. In all the cases the fetuses were immobilized by ultrasound-guided intravenous or intramuscular curarization. The diagnoses by MRI and ultrasound differed only in one case where an occipital meningocele had first been suggested. No cerebral abnormalities were demonstrated in this case by the MRI study, and this was confirmed at birth. In the remaining 14 cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. In four of these cases, MRI added some additional information to the ultrasound diagnosis of ventriculomegaly by detecting agenesis of the corpus callosum in two fetuses, one Chiari malformation and one triventricular hydrocephalus. Another two ultrasound diagnoses of microcephaly actually proved to be semilobar holoprosencephaly with MRI. In the following cases, the MRI diagnoses concurred with those of ultrasound, and was therefore used unnecessarily despite providing further anatomical details of the lesions: two cases of agenesis of the corpus callosum, one case of anencephaly, a cystic hygroma of the neck, an alobar holoprosencephaly, a Dandy-Walker malformation and a mild isolated hydrocephalus associated with diaphragmatic hernia. In one case of iniencephaly, sonography offered closer approximation to the correct diagnosis. The results obtained unequivocally confirm the high sensitivity of ultrasound examinations in the prenatal screening of cerebral malformations and show that MRI proves to be complementary in uncertain cases or when more accurate anatomical detail is required.
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PMID:Magnetic resonance imaging in pregnancy: study of fetal cerebral malformations. 1279 20

Prenatal karyotyping was carried out on 206 pregnancies with sonographic abnormalities, including fetal malformations, growth retardation and disorders of the amniotic fluid volume. Overall, chromosomal aberrations were detected in 37 cases (18.0%), but the frequency of chromosomal aberrations was 8.2% in fetuses with a single anomaly and 52.7% in fetuses with multiple anomalies. The chromosomal risk was very high in malformations associated with growth retardation (81.8%) or with both growth retardation and disorders of the amniotic fluid volume (82.4%). High rates of chromosomal aberrations were observed in cases of heart anomalies, diaphragmatic hernia, urinary tract obstruction, hydrocephalus, intestinal atresia, abdominal wall defect and fetal effusion/hydrops. In fetuses at high risk of chromosomal aberrations, cordocentesis for rapid karyotyping is justified in the second or third trimester.
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PMID:Sonographic findings and fetal chromosomal studies undertaken prenatally by fetal blood sampling using cordocentesis. 1279 56

Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.
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PMID:Fryns syndrome: a review of the phenotype and diagnostic guidelines. 1473 97

In the Philippines, congenital anomalies rank among the top 20 causes of death across the life span and are already the third leading cause of death in the infancy period (Philippine Department of Health, 1996). Despite the magnitude of the problem, no formal systematic registration of birth defects has been done in the country up until 1999. Various attempts have been made by different study groups to gather data but there was never a formal effort to consolidate the information and establish a centralized registry. Data from various modes of ascertainment are hereby presented: 1) Philippine Birth Defects Registry Project, 2) Hospital In-Patient and Out-Patient Registries, 3) Prenatal Inventory and Neonatal Outcome Study Group, 4) Hospital Pathology Reports, and 5) Community Outreach Programs. Birth Defects Registry Project had the largest reporting of the different methods presented here. The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (ankyloglossia), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (talipes equinovarus), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, congenital hydrocephalus, polydactyly, syndactyly, and cleft lip.
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PMID:Birth defects ascertainment in the Philippines. 1590 45

Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
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PMID:Microphthalmia with linear skin defects: a case report and review. 1895 Mar 97

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele.
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PMID:Parental age as a risk factor for isolated congenital malformations in a Polish population. 1933 37

Lumbar puncture is the best way to prove bacterial meningitis. It should be performed without any delay if the diagnosis is suspected. Herniation is a rare complication of LP. CT is normal in most cases of purulent meningitis, including those complicated by a subsequent herniation; normal CT results does not mean that performing a LP is safe. Three main clinical features can help determine which patient is at risk of herniation and should have a CT before LP. This risk has to be determined rapidly in the emergency ward while assessing anamnestic data, localization signs or symptoms, and level of consciousness. Cranial imaging (mainly MRI) is useful in the course of bacterial meningitis. Patients who do not respond well to treatment or with atypical presentation, persistence of fever, or new neurological signs should undergo brain imaging; MRI and CT may identify subdural effusions, brain abscesses, empyemas, hydrocephaly, or brain parenchymal changes (cerebritis, infarction, hemorrhage). CT and MRI are useful to screen for an ENT cause of bacterial meningitis, and mandatory in case of pneumococcal meningitis. Numerous MRI sequences are useful to identify bacterial meningitis complications: SE T1 without and with gadolinium injection, SE T2, FLAIR, gradient-echo T2, diffusion weighted imaging, MR angiography.
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PMID:[Indication of neuro-imaging for the initial management and the follow-up of acute community-acquired bacterial meningitis]. 1939 88

Along with ultrasonography, maternal serum screening is an initial stage of a diagnostic process of genetically determined fetal malformation. Based on the performed clinical and statistical study, the author estimated the values of alpha-fetoprotein and beta-subunit of chorionic gonadotropin if the fetus has malformations of the central nervous system, heart, anterior abdominal wall, and urinary tract and Down's syndrome. The informative value of alpha-fetoprotein was confirmed in malformations of the anterior abdominal wall (gastroschisis, omphalocele) and the central nervous system (hydrocephalus, spinal hernia) and that of chorionic gonadotropin in Down's syndrome in a fetus of 15 to 24 weeks gestation.
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PMID:[Maternal serum screening: possibilities of using in the complex diagnosis of fetal malformation]. 1964 18

Congenital club foot has been sparsely reported in literature in Nigeria, although it has been reported as the commonest congenital musculoskeletal abnormality. This study enumerates the point prevalence of this disease in a university teaching hospital in Lagos. Better understanding of the epidemiology in our community should improve awareness, and influence management. Between June 2005 and July 2006, 72 consecutive patients with congenital club feet were seen in the orthopaedic clinic of our Hospital. Demographic data, birth weight, family history, birth facility, maternal age and associated congenital anomalies were recorded and analysed using Statistical Programme for Social Sciences (SPSS) version 15. A total of 72 patients were seen, 28 of whom had bilateral club feet resulting in a total of 100 feet. There were 38 males and 34 females. Only 29% presented in the first month of life and 28% in the second month. Maternal ages ranged between 19 and 38 years and no family history of congenital club foot was given,. Babies delivered outside the orthodox medical system (churches, traditional healers, home etc) constituted 28%. The commonest associated congenital anomalies were tibia hemimelia, hydrocephalus, inguinal hernia and umbilical hernia. A default rate of 28% was observed during treatment. Congenital club foot may not be uncommon in Nigeria. Late presentation and high default rate before correction of the deformity were observed. Establishment of special club foot clinics should reduce the default rate. Training of healthcare workers in maternity units as well as Public awareness should encourage early referral to specialists.
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PMID:Congenital club foot in a teaching hospital in Lagos, Nigeria. 2017 26

Mutations in polycystin1 (PKD1) account for the majority of autosomal dominant polycystic kidney disease (ADPKD). PKD1 mutations are also associated with vascular aneurysm and abdominal wall hernia, suggesting a role for polycystin1 in extracellular matrix (ECM) integrity. In zebrafish, combined knockdown of the PKD1 paralogs pkd1a and pkd1b resulted in dorsal axis curvature, hydrocephalus, cartilage and craniofacial defects, and pronephric cyst formation at low frequency (10-15%). Dorsal axis curvature was identical to the axis defects observed in pkd2 knockdown embryos. Combined pkd1a/b, pkd2 knockdown demonstrated that these genes interact in axial morphogenesis. Dorsal axis curvature was linked to notochord collagen overexpression and could be reversed by knockdown of col2a1 mRNA or chemical inhibition of collagen crosslinking. pkd1a/b- and pkd2-deficient embryos exhibited ectopic, persistent expression of multiple collagen mRNAs, suggesting a loss of negative feedback signaling that normally limits collagen gene expression. Knockdown of pkd1a/b also dramatically sensitized embryos to low doses of collagen-crosslinking inhibitors, implicating polycystins directly in the modulation of collagen expression or assembly. Embryos treated with wortmannin or LY-29400 also exhibited dysregulation of col2a1 expression, implicating phosphoinositide 3-kinase (PI3K) in the negative feedback signaling pathway controlling matrix gene expression. Our results suggest that pkd1a/b and pkd2 interact to regulate ECM secretion or assembly, and that altered matrix integrity may be a primary defect underlying ADPKD tissue pathologies.
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PMID:The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation. 2033 43


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