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Congenital structure abnormality

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https://www.readbyqxmd.com/read/29157542/alterations-in-tooth-structure-and-associated-systemic-conditions
#1
REVIEW
Farah Masood, Erika Benavides
A variety of factors can affect the normal development of tissues and may lead to variation in the normal compliment of teeth and development of alterations in the shape and size of teeth. These anomalies can be congenital, developmental, or acquired. Dental anomalies can present as isolated traits or be associated with systemic conditions and syndromes for which early diagnosis and genetic testing may result in better treatment outcomes and quality of life. Dentists play an essential role in the multidisciplinary management of these abnormalities...
January 2018: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/29130116/hearing-loss-and-renal-syndromes
#2
Paul J Phelan, Michelle N Rheault
The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems...
November 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#3
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29118890/a-novel-technique-for-the-administration-of-sub-ambient-oxygen-in-the-operating-room
#4
Asad A Khawaja, Marco Corridore, Joseph D Tobias
Hypoplastic left heart syndrome (HLHS) is a common form of congenital heart disease with abnormal development of left-sided structures of the heart. As excessive pulmonary blood flow is common prior to palliative surgical procedures, therapeutic maneuvers may be required to decrease pulmonary blood flow and augment systemic cardiac output. Respiratory manipulations to optimize the ratio of pulmonary to systemic blood flow may include techniques to induce hypercarbia or the delivery of sub-ambient concentrations of oxygen (FiO2 less than 0...
October 2017: Cardiology Research
https://www.readbyqxmd.com/read/29118876/large-dermoid-cyst-presenting-as-recurrent-pancreatitis
#5
Emmanuel Ofori, Daryl Ramai, Denzil Etienne, Madhavi Reddy, Ghulamullah Shahzad
Pancreatic dermoid cysts are rare and benign congenital abnormalities of germ cell origin. They occur equally in males and females without age predilection. Though radiographic imaging aids in the diagnosis, most times they are inconclusive and require fine-needle aspiration cytology for confirmation. We report the first case of a dermoid cyst presenting as recurrent pancreatitis in a 49-year-old male. Computed tomography scan, followed by magnetic resonance imaging, showed a complex cystic mass lesion adjacent to the pancreatic tail...
October 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/29109544/mapping-and-phasing-of-structural-variation-in-patient-genomes-using-nanopore-sequencing
#6
Mircea Cretu Stancu, Markus J van Roosmalen, Ivo Renkens, Marleen M Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclan, Jerome Korzelius, Ewart de Bruijn, Edwin Cuppen, Michael E Talkowski, Tobias Marschall, Jeroen de Ridder, Wigard P Kloosterman
Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse the genomes of two patients with congenital abnormalities using the MinION nanopore sequencer and a novel computational pipeline-NanoSV. We demonstrate that nanopore long reads are superior to short reads with regard to detection of de novo chromothripsis rearrangements. The long reads also enable efficient phasing of genetic variations, which we leveraged to determine the parental origin of all de novo chromothripsis breakpoints and to resolve the structure of these complex rearrangements...
November 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/29109227/the-impact-of-recombination-on-human-mutation-load-and-disease
#7
REVIEW
Isabel Alves, Armande Ang Houle, Julie G Hussin, Philip Awadalla
Recombination promotes genomic integrity among cells and tissues through double-strand break repair, and is critical for gamete formation and fertility through a strict regulation of the molecular mechanisms associated with proper chromosomal disjunction. In humans, congenital defects and recurrent structural abnormalities can be attributed to aberrant meiotic recombination. Moreover, mutations affecting genes involved in recombination pathways are directly linked to pathologies including infertility and cancer...
December 19, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29101475/insight-into-the-pathology-of-a-col1a1-signal-peptide-heterozygous-mutation-leading-to-severe-osteogenesis-imperfecta
#8
U Lindert, M Gnoli, M Maioli, M F Bedeschi, L Sangiorgi, M Rohrbach, C Giunta
Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break easily. Around 85-90% of cases are due to autosomal dominant mutations in the genes encoding type I collagen, the major organic component of bone. Genotype-phenotype correlations have shown that quantitative defects of collagen type I lead to mild OI, whereas structural defects show a wide clinical range from mild to perinatal lethal. This may partially be explained by the type of amino acid substitution and the relative location in the domain structure...
November 3, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29094487/effectiveness-of-fetal-cardiac-screening-for-congenital-heart-disease-using-a-combination-of-the-four-chamber-view-and-three-vessel-view-during-the-second-trimester-scan
#9
Mina Itsukaichi, Takehiro Serikawa, Kosuke Yoshihara, Hiroshi Suzuki, Kazufumi Haino, Masayuki Yamaguchi, Takayuki Enomoto, Koichi Takakuwa
AIM: We aimed to assess the accuracy and effectiveness of fetal cardiac screening for congenital heart disease (CHD) during the second trimester by general obstetricians in a non-selected population. METHODS: In this multicenter, prospective cohort study of fetal cardiac screening, four-chamber and three-vessel views were recorded by obstetricians at 18-21 gestational weeks (GW). A total of 3005 fetuses that were scheduled for delivery at our institution were included...
November 2, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29094445/kidney-transplantation-in-a-child-with-pierson-syndrome
#10
Sanem Guler, Sertac Cimen, Phillip Acott, Kathy Whelan, Michele Molinari
Congenital nephrotic syndrome is commonly associated with mutations in genes that encode podocyte and slit diaphragm proteins or the structural and regulatory proteins of the GBM. These mutations lead to the formation of dysfunctional proteins, which account for the resistance of the renal manifestations to conventional treatment methods. Consequently, patients become renal replacement therapy dependent. Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities...
November 1, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/29076654/the-respiratory-system-in-pediatric-chronic-heart-disease
#11
REVIEW
Sotiria C Apostolopoulou
Cardiovascular disease in the pediatric population closely affects the respiratory system inducing water retention in the lungs and pulmonary edema, airway compression by cardiovascular structures, restrictive pulmonary physiology as a result of hemodynamic changes and surgical repair, susceptibility to respiratory infections, development of pulmonary hypertension, thrombosis, or hemorrhage. Chronic heart failure and congenital heart disease are characterized by various respiratory manifestations and symptoms mimicking lung disease, which are frequently difficult to diagnose and treat...
December 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29075526/supravalvar-mitral-ring-with-a-parachute-mitral-valve-and-subcoarctation-of-the-aorta-in-a-child-with-hemodynamically-significant-vsd-a-study-of-the-morphology-echocardiographic-diagnostics-and-surgical-therapy
#12
Wojciech Mądry, Maciej A Karolczak, Krzysztof Grabowski
The authors present a case of echocardiographic diagnosis of supravalvar mitral ring (a fibromembranous structure that arose from the atrial surface of the mitral leaflets) in a child with a parachute mitral valve, a ventricular septal defect, and mild narrowing of the aortic isthmus. The supravalvar mitral stenosis is a typical but very infrequently detected element of the complex of anatomical abnormalities located within the left heart and the proximal aorta, called the Shone's complex (syndrome). Diagnosing an additional, hemodynamically significant anatomic defect during echocardiography was possible thanks to the detection of marked mobility limitation of the ring-adjacent part of the mitral valve mural leaflet as well as of an atypical image of turbulence occurring during the inflow from the left atrium to the left ventricle...
September 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/29066355/response-to-correction-of-refractive-errors-and-hypoaccommodation-in-children-with-congenital-zika-syndrome
#13
Liana O Ventura, Linda Lawrence, Camila V Ventura, Gordon N Dutton, Polyana Marinho, Priscila F Ferro, Adriana L Gois, Natalia C Dias, Larissa Ventura, Cynthia A Moore, Lea Hyvärinen
PURPOSE: To describe the immediate response to correction of refractive errors and hypoaccommodation in children with congenital Zika syndrome (CZS). METHODS: Children born between May and December 2015 with a confirmed diagnosis of CZS and enrolled in a multidisciplinary early intervention program were included in this study. All children received a comprehensive ophthalmic examination, including dynamic retinoscopy and cycloplegic refraction. Children were prescribed their full correction if they met the criteria for refractive error, strabismus, accommodative dysfunction, and/or low vision...
October 21, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29060332/investigating-fetal-myocardial-function-in-heart-anomalies-by-doppler-myocardial-performance-indices
#14
Ahsan H Khandoker, Haitham M Al-Angari, F Marzbanrad, Y Kimura
Fetal myocardial performance index are used to assess aspects of systolic and diastolic function in developing fetal heart. The aim of this study was to determine normal values of fetal left ventricular (LV) Tei Index (TI) for measuring systolic performance and K-Index (KI) for diastolic performance in early (<;32 weeks), Mid (32-35 weeks) and late trimester (35-41 weeks) normal fetuses and fetuses with congenital heart diseases (CHD). Simultaneous recordings of Doppler Ultrasound Signal (DUS) of the LV outflow tracts and fetal electrocardiogram signals were obtained in 57 normal and 14 fetuses with CHD...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29057564/the-effect-of-fetal-hemodynamics-on-fetal-growth-in-single-ventricle-and-transposition-of-the-great-arteries
#15
Tarek Alsaied, Stephanie Tseng, Eileen King, Eunice Hahn, Allison Divanovic, Mounira Habli, James Cnota
INTRODUCTION: As birth weight is a critical predictor of neonatal congenital heart defect (CHD) outcomes, the common problem of poor fetal growth in this population is clinically important but not well understood. The impact of fetal hemodynamics on fetal growth and birth weight in CHD has not been assessed. Combined cardiac output (CCO) has been used to evaluate patients with structurally normal heart but rarely in CHD. Middle cerebral artery and umbilical artery pulsatility indices (PIs) have been used to evaluate the relative distribution of circulation in patients with CHD...
October 23, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#16
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29049170/case-report-of-a-congenital-duodenal-transverse-septum-causing-partial-obstruction
#17
Xingjun Guo, Yahong Yu, Min Wang, Renyi Qin
INTRODUCTION: Duodenal obstructions caused by congenital anatomic abnormalities are rare in adults. Several patients in whom the duodenal obstruction was caused by a congenital duodenal diaphragm have been described. The duodenal obstruction in the patient presented herein was caused by a transverse septum, which has not been previously reported. A transverse septum is usually observed in the vagina; those involving the digestive tract have been rarely observed. CASE PRESENTATION: We herein report a case involving a 69-year-old woman with a congenital duodenal transverse septum causing partial obstruction...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29031171/transverse-testicular-ectopia-with-inguinal-hernia-a-rare-case-report
#18
Shubhi Bhatnagar, Shahaji Chavan, Mahendra Bendre
INTRODUCTION: Transverse aberrant testicular maldescent is an extremely rare congenital anomaly characterized by the migration of one testicle towards the opposite inguinal canal. Mostly such cases are reported in children and they are very rarely seen in adults. PRESENTATION OF CASE: We report a case of a 24year old male patient with left reducible indirect inguinal hernia with absence of testis in the right hemiscrotum.On surgical exploration, the patient had both the testicles on the left side...
October 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29026365/incidental-finding-of-bronchopulmonary-sequestration-in-a-64-year-old-female
#19
Pichapong Tunsupon, Ayesha Arshad, Sumit Patel, M Jeffery Mador
BACKGROUND: Bronchopulmonary sequestration is a congenital abnormality of the primitive foregut. In adults, the typical age at presentation is 20-25 years. CASE REPORT: A 64-year-old female was referred for evaluation of an 8 × 6-cm right lower lobe cystic lesion. Her medical history was significant for recurrent right lower lobe pneumonia requiring multiple hospitalizations. Her physical examination was significant for crackles at the right lung base. Computed tomography (CT) of the chest with contrast showed cystic changes with thickened septation of the medial segment of the right lower lobe lacking distinct visceral pleura and with arterial supply from the anomalous branch of the thoracic aorta arising near the celiac trunk...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29026268/characteristic-clinical-features-of-adipsic-hypernatremia-patients-with-subfornical-organ-targeting-antibody
#20
Akari Nakamura-Utsunomiya, Takeshi Y Hiyama, Satoshi Okada, Masaharu Noda, Masao Kobayashi
Adipsic hypernatremia is a rare disease presenting as persistent hypernatremia with disturbance of thirst regulation and hypothalamic dysfunction. As a result of congenital disease, tumors, or inflammation, most cases are accompanied by structural abnormalities in the hypothalamic-pituitary area. While cases with no hypothalamic-pituitary structural lesion have been reported, their etiology has not been elucidated. Recently, we reported three patients with adipsic hypernatremia whose serum-derived immunoglobulin (Ig) specifically reacted with mouse subfornical organ (SFO) tissue...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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