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Malformation syndromes

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https://www.readbyqxmd.com/read/28449168/mri-sequences-in-head-neck-radiology-state-of-the-art
#1
Gerlig Widmann, Benjamin Henninger, Christian Kremser, Werner Jaschke
Background Magnetic resonance imaging (MRI) has become an essential imaging modality for the evaluation of head & neck pathologies. However, the diagnostic power of MRI is strongly related to the appropriate selection and interpretation of imaging protocols and sequences. The aim of this article is to review state-of-the-art sequences for the clinical routine in head & neck MRI and to describe the evidence for which medical question these sequences and techniques are useful. Method Literature review of state-of-the-art sequences in head & neck MRI...
May 2017: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/28448680/22q11-2-deletion-syndrome-lowers-seizure-threshold-in-adult-patients-without-epilepsy
#2
Robert G Wither, Felippe Borlot, Alex MacDonald, Nancy J Butcher, Eva W C Chow, Anne S Bassett, Danielle M Andrade
OBJECTIVE: Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. METHODS: The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28446132/pcsk5-is-required-in-the-early-cranio-cardiac-mesoderm-for-heart-development
#3
Dorota Szumska, Milena Cioroch, Angela Keeling, Annik Prat, Nabil G Seidah, Shoumo Bhattacharya
BACKGROUND: Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects)...
April 26, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28441280/the-clinical-utility-of-flexion-extension-cervical-spine-mri-in-22q11-2-deletion-syndrome
#4
Samuel E Kolman, Stephanie Y Ohara, Aashim Bhatia, Tamara Feygin, Dino Colo, Keith D Baldwin, Donna Mcdonald-Mcginn, David A Spiegel
BACKGROUND: Our goal is to correlate the findings on flexion and extension radiographs with dynamic magnetic resonance imaging (MRI), and the clinical history, in a nonrandomly selected cohort of patients with 22q11.2 deletion syndrome (22q). METHODS: All patients with the 22q who had a dynamic MRI from January 2004 to March 2015 were included. We analyzed multiple radiographic measurements on both the dynamic plain films and the MRIs, and correlated these findings with a review of each patient's medical record...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#5
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#6
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28432975/vaccination-strategies-against-zika-virus
#7
REVIEW
Estefania Fernandez, Michael S Diamond
The epidemic emergence of Zika virus (ZIKV) in 2015-2016 has been associated with congenital malformations and neurological sequela. Current efforts to develop a ZIKV vaccine build on technologies that successfully reduced infection or disease burden against closely related flaviviruses or other RNA viruses. Subunit-based (DNA plasmid and modified mRNA), viral vectored (adeno- and measles viruses) and inactivated viral vaccines are already advancing to clinical trials in humans after successful mouse and non-human primate studies...
April 19, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#8
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432715/complications-of-pregnancy-and-labor-in-women-with-klippel-trenaunay-syndrome-a-nationwide-cross-sectional-study
#9
S E R Horbach, M M Lokhorst, C E U Oduber, S Middeldorp, J A M van der Post, C M A M van der Horst
OBJECTIVE: To evaluate complications of pregnancy, including thromboembolism, in women with extensive vascular malformations associated with Klippel-Trenaunay Syndrome (KTS). DESIGN: Nationwide cross-sectional study. SETTING: Two tertiary expert centers and the Dutch Klippel-Trenaunay patient organization. SAMPLE: Adult women with KTS. METHODS: Patients with KTS were invited to participate in a comprehensive online survey about their obstetric history...
April 22, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28429635/congenital-hypothalamic-hamartoblastoma-versus-hamartoma
#10
C Dunham, D McFadden, L Dahlgren, B Butler, S Hamilton, M McKinnon
Pallister Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term "hamartoblastoma" to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term "hamartoma" was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28426677/information-ranks-highest-expectations-of-female-adolescents-with-a-rare-genital-malformation-towards-health-care-services
#11
Elisabeth Simoes, Alexander N Sokolov, Andrea Kronenthaler, Hanna Hiltner, Norbert Schaeffeler, Katharina Rall, Esther Ueding, Monika A Rieger, Anke Wagner, Leonie S Poesch, Marie-Christin Baur, Judith Kittel, Sara Y Brucker
BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances...
2017: PloS One
https://www.readbyqxmd.com/read/28424013/anterior-spinal-artery-aneurysm-in-aortic-stenosis-of-different-etiology-report-of-three-cases
#12
Vivek Singh, Suprava Naik, Sanjeev K Bhoi, R V Phadke
Isolated aneurysms of spinal arteries are rare. Spinal artery aneurysms are commonly found in association with spinal cord arteriovenous malformation and coarctation of aorta and rarely with aortic arch interruption and Klippel-Trenaunay syndrome. Spinal angiograms are the gold standard for diagnosing these spinal artery aneurysms but with the advances in computed tomography technology these aneurysms can also be very well demonstrated in computed tomography angiograms. We describe three cases of anterior spinal artery aneurysm, those are flow related aneurysms, associated with coarctation of aorta and with Takayasu arteritis...
April 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#13
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422344/use-of-blood-pool-agents-with-steady-state-mri-to-assess-the-vascular-system
#14
Avnesh S Thakor, John Chung, Premal Patel, Anthony Chan, Amdad Ahmed, Graeme McNeil, David M Liu, Bruce Forster, Darren Klass
Over the past two decades there have been significant advances in the use of magnetic resonance imaging (MRI) to assess the vascular system. New imaging sequences and improvements in magnet design have enabled the creation of higher spatial resolution images. MRI is now a viable alternative imaging modality when compared to both invasive angiography and computed tomographic angiography. The use of blood pool agents has further facilitated the use of MR angiography (MRA); their high molecular weight allows for lower doses of contrast medium administration while their prolonged presence in the blood stream allows for repeated high-quality volumetric imaging of both the arterial and venous circulation...
April 19, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#15
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28414277/waardenburg-syndrome-an-unusual-indication-of-cochlear-implantation-experienced-in-11-patients
#16
Feda Bayrak, Tolgahan Çatlı, Görkem Atsal, Taşkın Tokat, Levent Olgun
OBJECTIVE: The aim of this study was to present the surgical findings of children with Waardenburg syndrome (WS) and investigate speech development after cochlear implantation in this unique group of patients. MATERIALS AND METHODS: A retrospective chart review of the patients diagnosed with WS and implanted between 1998 and 2015 was performed. Categories of auditory performance (CAP) test were used to assess the auditory skills of these patients. CAP is a nonlinear hierarchical scale used to rate a child's developing auditory abilities...
April 17, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28413599/rare-features-associated-with-mobius-syndrome-report-of-two-cases
#17
Rumela Ghosh, Vikram Shetty, Shruthi Hegde, G Subhas Babu, Vidya Ajila, Nanda Kishore P, Mithula Nair
Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28412787/-progress-in-studies-on-the-genetic-risk-factors-for-nonsyndromic-cleft-lip-or-palate-in-china
#18
Y Q Huang
Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus...
April 9, 2017: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#19
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28403078/renal-dysplasia-characterized-by-prominent-cartilaginous-metaplasia-lesions-in-vacterl-association-a-case-report
#20
Takeo Nakaya, Taiju Hyuga, Yukichi Tanaka, Shina Kawai, Hideo Nakai, Toshiro Niki, Akira Tanaka
BACKGROUND: Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association...
April 2017: Medicine (Baltimore)
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