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Congenital malformation

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https://www.readbyqxmd.com/read/28449501/transarterial-embolization-of-intralobar-pulmonary-sequestration-in-a-young-adult-with-hemoptysis
#1
Rebecca Zener, David Bottoni, Andrew Zaleski, Dalilah Fortin, Richard A Malthaner, Richard I Inculet, Amol Mujoomdar
Intralobar pulmonary sequestration is a rare congenital malformation characterized by the presence of dysplastic lung that does not communicate with the tracheobronchial tree, and has aberrant systemic arterial supply. While most are asymptomatic, they rarely can present with hemoptysis, which has been traditionally managed with surgical resection of the sequestration. We report a case of an 18-year-old male who presented with acute large-volume hemoptysis on a background of recurrent minor episodes of hemoptysis, due to intralobar sequestration...
March 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28449168/mri-sequences-in-head-neck-radiology-state-of-the-art
#2
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/28448044/generation-of-ipsc-derived-human-brain-organoids-to-model-early-neurodevelopmental-disorders
#3
Elke Gabriel, Jay Gopalakrishnan
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue...
April 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447027/gastric-function-in-children-with-oesophageal-atresia-and-tracheoesophageal-fistula
#4
REVIEW
Gilles Duvoisin, Usha Krishnan
Oesophageal atresia and tracheoesophageal fistula (OA-TOF) are a multifaceted condition which affects patients throughout their lives. Even though it is one of the most common gastrointestinal malformations, most of the current studies focus on gastro-oesophageal reflux disease, anastomotic strictures, and feeding difficulties. However, there is increasing evidence that a proportion of patients with OA-TOF also have abnormal gastric function. This review aims to provide a comprehensive understanding of studies of gastric function in patients with OA-TOF...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28446648/pregabalin-use-early-in-pregnancy-and-the-risk-of-major-congenital-malformations
#5
Elisabetta Patorno, Brian T Bateman, Krista F Huybrechts, Sarah C MacDonald, Jacqueline M Cohen, Rishi J Desai, Alice Panchaud, Helen Mogun, Page B Pennell, Sonia Hernandez-Diaz
OBJECTIVE: To assess whether first-trimester exposure to pregabalin is associated with an increased risk of major congenital malformations, as recently suggested in a pregnancy registry study. METHODS: We performed a cohort study nested in the US Medicaid Analytic eXtract (MAX). The study population included 1,323,432 pregnancies resulting in a live-born infant between 2000 and 2010. We examined the risk of major congenital malformations among infants born to women exposed to pregabalin during the first trimester compared with women unexposed to anticonvulsants...
April 26, 2017: Neurology
https://www.readbyqxmd.com/read/28443277/pediatric-hand-surgery-training-in-nicaragua-a-sustainable-model-of-surgical-education-in-a-resource-poor-environment
#6
Mary Claire B Manske, Jairo J Rios Roque, Gabriel Ramos Zelaya, Michelle A James
Recent reports have demonstrated that nearly two-thirds of the world's population do not have access to adequate surgical care, a burden that is borne disproportionately by residents of resource-poor countries. Although the reasons for limited access to surgical care are complex and multi-factorial, among the most substantial barriers is the lack of trained surgical providers. This is particularly true in surgical subspecialties that focus on life-improving, rather than life-saving, treatments, such as pediatric hand and upper extremity surgery, which manages such conditions as congenital malformations, trauma and post-traumatic deformities including burns, and neuromuscular conditions (brachial plexus birth palsy, spinal cord injury, and cerebral palsy)...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28442319/a-rare-case-of-congenital-bronchoesophageal-fistula-in-an-adult
#7
Naohiro Taira, Hidenori Kawasaki, Eriko Atsumi, Tomonori Furugen, Takaharu Ichi, Kazuaki Kushi, Tomofumi Yohena, Motoo Baba, Tsutomu Kawabata
INTRODUCTION: When congenital bronchoesophageal fistulas exist without atresia of the esophagus, the diagnosis can be delayed, although symptoms may occur early following fistula development. Therefore, while they are usually found in infants, they can be extremely rarely found in adults. We herein report a rare case of bronchoesophageal fistula without atresia in an adult. CASE: An 69-year-old male presented to the outpatient clinic with a decades-long history of cough with expectoration immediately after taking food, especially liquids...
March 21, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28442169/cochlear-implantation-in-children-with-anomalous-cochleovestibular-anatomy
#8
REVIEW
Ana Sofia Melo, Jorge Martins, João Silva, Jorge Quadros, António Paiva
OBJECTIVE: The aim of the study is to assess the audiological and surgical outcome after cochlear implantation in children with inner ear malformation and to compare them with a group of congenitally deaf children implantees without inner ear malformation. INTRODUCTION: Children with profound sensorineural deafness with malformations of the inner ear represent a challenge, accounting to 5-15% of congenital sensorineural deafness. These cases were originally regarded as a contraindication for cochlear implant surgery...
April 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28441280/the-clinical-utility-of-flexion-extension-cervical-spine-mri-in-22q11-2-deletion-syndrome
#9
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
#10
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/28440405/copy-number-variation-analysis-in-familial-nonsyndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-evidence-for-the-causative-role-of-a-transposable-element-associated-genomic-rearrangement
#11
Ekaterini Siomou, Artemis G Mitsioni, Vasileios Giapros, Ioanna Bouba, Dimitrios Noutsopoulos, Ioannis Georgiou
Most congenital anomalies of the kidney and urinary tract (CAKUT) are sporadic, but familial occurrence has been described, suggesting a genetic contribution. Copy‑number variations (CNVs) were detected in patients with CAKUT to identify possible novel genomic regions associated with CAKUT. CNVs were investigated in 7 children with CAKUT from three unrelated families using array comparative genomic hybridization: female monozygotic twins with bilateral duplex collecting system/vesicoureteral reflux (VUR)/unilateral renal hypodyspasia (URHD); two male siblings with VUR/URHD; 3 male second cousins, one with bilateral VUR/URHD, one with bilateral VUR and one with ureterovesical junction obstruction (UVJO)...
April 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440360/anorectal-malformation-as-a-cause-of-recurring-perineal-abscesses-value-of-anorectal-endosonography-and-magnetic-resonance-imaging-a-case-report
#12
Małgorzata Kołodziejczak, Giulio A Santoro, Jacek Sobocki, Tomasz Szopiński, Anna Wiączek, Iwona Sudoł-Szopińska
Malformations of the rectum and urinary tract frequently coexist, and the prevalence of urogenital defects in patients with a rectal defect ranges from 20 to 54%. In most patients, anorectal malformations are diagnosed and treated surgically in early childhood. In this report, we present a case of a 52-year-old male with a history of urological operations in infancy due to a congenital urethral malformation and multiple recurrent episodes of perineal abscesses with urinary retention. Anorectal endosonography and magnetic resonance imaging revealed the presence of a large cystic lesion adjacent to the rectal wall which became smaller at the level of the puborectalis...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28438836/a-wnt-notch-pax7-signaling-network-supports-tissue-integrity-in-tongue-development
#13
Xiao-Jing Zhu, Xueyan Yuan, Min Wang, Yukun Fang, Yudong Liu, Xiaoyun Zhang, Xueqin Yang, Yan Li, Jianying Li, Feixue Li, Zhong-Min Dai, Mengsheng Qiu, Ze Zhang, Zunyi Zhang
The tongue is one of the major structures involved in human food intake and speech. Tongue malformations such as aglossia, microglossia, and ankyloglossia are congenital birth defects, greatly affecting individuals' quality of life. However, the molecular basis of the tissue-tissue interactions that ensure tissue morphogenesis to form a functional tongue remains largely unknown. Here we show that ShhCre-mediated epithelial deletion of Wntless (Wls), the key regulator for intracellular Wnt trafficking, leads to lingual hypoplasia in mice...
April 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28438750/intradiaphragmatic-hybrid-lesion-surgical-decision-making-and-value-of-minimal-invasive-surgery
#14
Blanca Schuster, Stefan Gerhard Holland-Cunz, Peter Zimmermann
Hybrid lesions (HLs) have elements of congenital pulmonary airway malformation and extrapulmonary sequestration (EPS) and belong to the congenital lung lesions. EPS usually arises in the thorax or the abdomen but rarely in the diaphragm. The preoperative diagnostic work-up based on chest radiograph, ultrasound (US) and CT often shows imprecise results. Therefore, the exact localisation of the lesion can only be ascertained intraoperatively. Here we present a patient, with an intradiaphragmatic HL, and demonstrate the difficulties of surgical decision making regarding the localisation of the lesion and discuss the value of minimal invasive surgery...
April 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438388/kaposiform-haemangioendothelioma-a-review-with-emphasis-on-histological-differential-diagnosis
#15
REVIEW
Juan Putra, Anita Gupta
Kaposiform haemangioendothelioma (KHE) is a rare, locally aggressive/borderline vascular tumour primarily seen in neonates and children. KHE is occasionally associated with Kasabach-Merritt phenomenon and tends to have a poor clinical prognosis. While the histological features of tufted angiomas and KHE overlap, some believe tufted angiomas are a milder, benign, more localised counterpart of KHE. The other histological differential diagnoses of KHE include infantile haemangioma, congenital haemangioma, spindle cell haemangioma, verrucous malformation/haemangioma, and Kaposi sarcoma...
April 21, 2017: Pathology
https://www.readbyqxmd.com/read/28436552/systematic-review-with-meta-analysis-the-efficacy-and-safety-of-tenofovir-to-prevent-mother-to-child-transmission-of-hepatitis-b-virus
#16
REVIEW
M H Hyun, Y-S Lee, J H Kim, J H Je, Y J Yoo, J E Yeon, K S Byun
BACKGROUND: Preventing mother to child transmission of chronic hepatitis B infection in the setting of a high maternal viral load is challenging. The idea has emerged from antepartum tenofovir treatment with combination immunoprophylaxis. AIMS: To demonstrate the efficacy and safety of tenofovir to prevent mother to child transmission of hepatitis B virus. METHODS: PubMed, EMBASE, and Cochrane databases were searched through August 16, 2016...
April 24, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28436540/early-diagnosis-of-bladder-exstrophy-quantitative-assessment-of-a-low-inserted-umbilical-cord
#17
Michal Fishel-Bartal, Sharon Perlman, Baruch Messing, Ron Bardin, Zvi Kivilevitch, Reuven Achiron, Yinon Gilboa
OBJECTIVES: Bladder exstrophy is a rare severe congenital malformation. Early prenatal diagnosis is scarcely described in the literature. Low insertion of the umbilical cord is a constant anatomic feature of bladder exstrophy. The aim of our study was to assess whether early measurements of the umbilical cord insertion-to-genital tubercle length may serve as quantitative measurements for a low-inserted umbilical cord in cases of bladder exstrophy. METHODS: The umbilical cord insertion-to-genital tubercle length was prospectively measured in all cases referred for a nonvisualized urinary bladder before 18 weeks' gestation...
April 24, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28434866/lentiviral-vectors-with-cellular-promoters-correct-anemia-and-lethal-bone-marrow-failure-in-a-mouse-model-for-diamond-blackfan-anemia
#18
Shubhranshu Debnath, Pekka Jaako, Kavitha Siva, Michael Rothe, Jun Chen, Maria Dahl, H Bobby Gaspar, Johan Flygare, Axel Schambach, Stefan Karlsson
Diamond-Blackfan anemia is a congenital erythroid hypoplasia and is associated with physical malformations and a predisposition to cancer. Twenty-five percent of patients with Diamond-Blackfan anemia have mutations in a gene encoding ribosomal protein S19 (RPS19). Through overexpression of RPS19 using a lentiviral vector with the spleen focus-forming virus promoter, we demonstrated that the Diamond-Blackfan anemia phenotype can be successfully treated in Rps19-deficient mice. In our present study, we assessed the efficacy of a clinically relevant promoter, the human elongation factor 1α short promoter, with or without the locus control region of the β-globin gene for treatment of RPS19-deficient Diamond-Blackfan anemia...
April 20, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28434408/secure-internet-of-things-based-cloud-framework-to-control-zika-virus-outbreak
#19
Sanjay Sareen, Sandeep K Sood, Sunil Kumar Gupta
OBJECTIVES: Zika virus (ZikaV) is currently one of the most important emerging viruses in the world which has caused outbreaks and epidemics and has also been associated with severe clinical manifestations and congenital malformations. Traditional approaches to combat the ZikaV outbreak are not effective for detection and control. The aim of this study is to propose a cloud-based system to prevent and control the spread of Zika virus disease using integration of mobile phones and Internet of Things (IoT)...
April 24, 2017: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/28434134/pregnancy-outcomes-following-in-utero-exposure-to-lamotrigine-a-systematic-review-and-meta-analysis
#20
REVIEW
Gali Pariente, Tom Leibson, Talya Shulman, Thomasin Adams-Webber, Eran Barzilay, Irena Nulman
INTRODUCTION: Lamotrigine is used in pregnancy to control epilepsy and mood disorders. The reproductive safety of this widely used drug remains undefined and may represent a significant public health concern. OBJECTIVE: We aimed to perform a systematic review and meta-analysis of existing knowledge related to malformation rates and maternal-neonatal outcomes after in utero exposure to monotherapy with lamotrigine. METHODS: Relevant studies were identified through systematic searches conducted in MEDLINE (Ovid), Embase (Ovid), CENTRAL (Ovid), and Web of Science (Thomson Reuters) from database inception to July 2016; no language or date restrictions were applied...
April 22, 2017: CNS Drugs
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