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Congenital structure abnormality

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https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#1
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#2
Noemi Borsay Hall, Kelly Broussard, Nicole Evert, Mark Canfield
On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies...
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28792795/diphallia-in-a-mixed-breed-puppy-case-report
#3
Rebecca Laube, Alysa Cook, Kevin Winkler
An 8 mo old intact male mixed-breed dog presented for diphallia with paraphimosis of the nonfunctional, accessory penis. Bloodwork, an abdominal ultrasound, and a positive contrast retrograde urethrogram were performed and revealed no other structural abnormalities. Surgical excision of the accessory penis was elected. This is one of three reported cases of diphallia in the dog in the English literature, but this is the only case in which no other congenital abnormalities were identified. The authors also review diphallia in both the veterinary and human literature...
August 9, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/28777859/-delineating-a-case-with-a-complex-karyotype-by-using-combined-genetic-techniques
#4
Ning Han, Lu Kuang, Bing Zhu, Liang Hua, Wanling Li
OBJECTIVE: To explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease. METHODS: G-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration. RESULTS: The child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28766718/left-ventricular-aneurysm-sudden-unexpected-deaths-in-a-29-year-old-man
#5
Supawon Srettabunjong
Left ventricular aneurysm (LVA) is an abnormal dilated heart structure, either congenital or acquired. LVA is a rare cardiac condition with no symptoms in most cases, thus occasionally diagnosed during investigations of other diseases. Its association with certain cardiac complications and sudden cardiac deaths has been reported. However, its role as a cause of sudden unexpected death is rare. The author reported a sudden cardiac death in a 29-year-old man with LVA. Without a significant coronary artery disease and known etiologies of LVA, such an abnormal heart structure in the present case was considered congenital LVA...
August 2, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28764265/semilobarholoprosencephaly-a-dreading-congenital-anomaly
#6
Bhushita B Lakhkar, Bhushan N Lakhkar, Bhavana B Lakhkar
Holoprosencephaly (HPE) is a group of structural abnormalities of brain that is an important cause of childhood mortality and morbidity. They usually occur due to impaired midline cleavage of embryonic forebrain i.e., failure of differentiation of the prosencephalon into the telecephalon and diencephalon. De Myer classified this anomaly ranging from alobar to semilobar and lobar type. It can be associated with microcephaly and midline facial anomalies. We present a case of semilobar holoprosencephaly with corpus callosal agenesis...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28761211/holt-oram-syndrome-a-rare-variant
#7
Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. Cardiac involvement ranges from asymptomatic conduction disturbances to multiple structural defects...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28760865/dystroglycan-maintains-inner-limiting-membrane-integrity-to-coordinate-retinal-development
#8
Reena Clements, Rolf Turk, Kevin P Campbell, Kevin M Wright
Proper neural circuit formation requires the precise regulation of neuronal migration, axon guidance and dendritic arborization. Mutations affecting the function of the transmembrane glycoprotein dystroglycan cause a form of congenital muscular dystrophy that is frequently associated with neurodevelopmental abnormalities. Despite its importance in brain development, the role for dystroglycan in regulating retinal development remains poorly understood. Using a mouse model of dystroglycanopathy (ISPD(L79*) ) and conditional dystroglycan mutants of both sexes, we show that dystroglycan is critical for the proper migration, axon guidance and dendritic stratification of neurons in the inner retina...
July 31, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28746174/traumatic-cataract-in-patient-with-anterior-megalophthalmos-case-report
#9
Edyta Chlasta-Twardzik, Anna Nowińska, Paweł Wąs, Agnieszka Jakubowska, Edward Wylęgała
RATIONALE: Megalophthalmos anterior is a rare, bilateral, nonprogressive, hereditary, congenital disorder, characterized by the enlargement of all anterior segment structures of the eye, with megalocornea, iris atrophy, and zonular abnormalities commonly found. Usually almost asymptomatic in young patients, with most complaints concerning blurred vision due to the common corneal astigmatism, it might in time lead to several complications including premature cataract formation and pigmentary glaucoma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28744840/organ-dynamics-and-fluid-dynamics-of-the-hh25-chick-embryonic-cardiac-ventricle-as-revealed-by-a-novel-4d-high-frequency-ultrasound-imaging-technique-and-computational-flow-simulations
#10
Sheldon Ho, Germaine Xin Yi Tan, Toon Jin Foo, Nhan Phan-Thien, Choon Hwai Yap
Past literature has provided evidence that a normal mechanical force environment of blood flow may guide normal development while an abnormal environment can lead to congenital malformations, thus warranting further studies on embryonic cardiovascular flow dynamics. In the current study, we developed a non-invasive 4D high-frequency ultrasound technique, and use it to analyze cardiovascular organ dynamics and flow dynamics. Three chick embryos at stage HH25 were scanned with high frequency ultrasound in cine-B-mode at multiple planes spaced at 0...
July 25, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28743714/incidental-finding-of-a-double-orifice-mitral-valve-in-an-elderly-patient-the-value-of-3d-imaging
#11
Nuno Pires, Wei Li, Roxy Senior, Rajdeep S Khattar
A rare isolated double orifice mitral valve was diagnosed in a 77 year old male patient. This is a rare congenital abnormality, usually discovered as an incidental finding during investigation of other congenital heart defects. This case shows that a detailed assessment of all cardiac structures is necessary, not only in young patients, but also in the elderly population, to minimise the under-diagnosis of such rare anomalies. The use of three dimensional transthoracic echocardiography has an increasingly significant role in establishing the diagnosis and extending the morphological and functional understanding of the anomaly...
July 25, 2017: Echo Research and Practice
https://www.readbyqxmd.com/read/28742269/unilateral-lung-agenesis-aplasia-or-hypoplasia-which-one-is-it
#12
Khristopher M Nguyen, Snehal Vala, Sarah Milla, Lokesh Guglani
Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#13
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28733343/profile-of-neonatal-epilepsies-characteristics-of-a-prospective-us-cohort
#14
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio
OBJECTIVE: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures. METHODS: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#15
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#16
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28690482/barber-say-syndrome-and-ablepharon-macrostomia-syndrome-a-patient-s-view
#17
Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin B Chung, Albert David, Ariana Kariminejad, Maura Foresti, Marina Gallottini, Bertrand Isidor, Shannon Marchegiani, Fabiana Martins, Laura Mazzanti, Nathalie Roche, Ankur Singh, Cathy Stevens, Kenichi Suga, Martin Zenker, Raoul C Hennekam
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690469/ankle-reconstruction-in-fibular-hemimelia-new-approach
#18
Hany Hefny, ElHussein M Elmoatasem, Mahmoud Mahran, Tamer Fayyad, Mohamed A Elgebeily, Ahmed Mansour, Mamdouh Hefny
BACKGROUND: Fibular hemimelia is a congenital disorder that is characterized by the absence of the fibula that could be either partial or complete. Successful management aims to restore normal weight bearing and normal limb length. The introduction of the Ilizarov method of limb lengthening has provided an attractive alternative to amputation. During lengthening, the tight posterolateral soft-tissue structures, the thick fibrous fibular band, and the shortened Achilles tendon become tighter and transfer a valgus force to the talus and calcaneus, further aggravating the deformity...
July 2017: HSS Journal: the Musculoskeletal Journal of Hospital for Special Surgery
https://www.readbyqxmd.com/read/28685322/affected-female-carriers-of-mtm1-mutations-display-a-wide-spectrum-of-clinical-and-pathological-involvement-delineating-diagnostic-clues
#19
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Tanya Stojkovic, Osorio Abath Neto, Sandra Mercier, Nicol Voermans, Laura Tanner, Curtis Rogers, Elisabeth Ollagnon-Roman, Helen Roper, Célia Boutte, Shay Ben-Shachar, Xavière Lornage, Nasim Vasli, Elise Schaefer, Pascal Laforet, Jean Pouget, Alexandre Moerman, Laurent Pasquier, Pascale Marcorelle, Armelle Magot, Benno Küsters, Nathalie Streichenberger, Christine Tranchant, Nicolas Dondaine, Raphael Schneider, Claire Gasnier, Nadège Calmels, Valérie Kremer, Karine Nguyen, Julie Perrier, Erik Jan Kamsteeg, Pierre Carlier, Robert-Yves Carlier, Julie Thompson, Anne Boland, Jean-François Deleuze, Michel Fardeau, Edmar Zanoteli, Bruno Eymard, Jocelyn Laporte
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate diagnostic clues, we characterized 17 new unrelated affected females and performed a detailed comparison with previously reported cases at the clinical, muscle imaging, histological, ultrastructural and molecular levels...
July 6, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28684259/zinner-syndrome-a-diagnostic-challenge-the-aid-of-morphology-embryology-and-immunohistochemistry
#20
Michela Campora, Alberto Olivero, Carlo Toncini, Bruno Spina, Ezio Fulcheri, Carlo Terrone, Valerio Gaetano Vellone
We investigate a patient with right kidney agenesis. Imaging showed the presence of a cystic mass dislocating the bladder. The specimen showed three formations: a kidney remnant, a ureter with blind-ending branch and a cysts, from this departed another tubular structure, considered the deferential duct. The specimen was sampled. The supposed kidney was formed by cystic structures. Examination of the tubular structures disclosed smooth muscle fibers with no lumen, while the cyst was surrounded by fibrous and hemorrhagic walls...
July 3, 2017: Urology
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