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https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#1
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231241/hydrocephalus-and-arthrogryposis-in-an-immunocompetent-mouse-model-of-zika-teratogeny-a-developmental-study
#2
Jose Xavier-Neto, Murilo Carvalho, Bruno Dos Santos Pascoalino, Alisson Campos Cardoso, Ângela Maria Sousa Costa, Ana Helena Macedo Pereira, Luana Nunes Santos, Ângela Saito, Rafael Elias Marques, Juliana Helena Costa Smetana, Silvio Roberto Consonni, Carla Bandeira, Vivian Vasconcelos Costa, Marcio Chaim Bajgelman, Paulo Sérgio Lopes de Oliveira, Marli Tenorio Cordeiro, Laura Helena Vega Gonzales Gil, Bianca Alves Pauletti, Daniela Campos Granato, Adriana Franco Paes Leme, Lucio Freitas-Junior, Carolina Borsoi Moraes Holanda de Freitas, Mauro Martins Teixeira, Estela Bevilacqua, Kleber Franchini
The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses...
February 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28231076/congenital-vascular-malformations-of-the-liver-an-association-with-trisomy-21
#3
Mark Davenport
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28231075/congenital-vascular-malformations-are-associated-with-trisomy-21
#4
Henrik Arnell, Björn Fischler
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230772/silencing-of-two-insulin-receptor-genes-disrupts-nymph-adult-transition-of-alate-brown-citrus-aphid
#5
Bi-Yue Ding, Feng Shang, Qiang Zhang, Ying Xiong, Qun Yang, Jin-Zhi Niu, Guy Smagghe, Jin-Jun Wang
Insulin receptors play key roles in growth, development, and polymorphism in insects. Here, we report two insulin receptor genes (AcInR1 and AcInR2) from the brown citrus aphid, Aphis (Toxoptera) citricidus. Transcriptional analyses showed that AcInR1 increased during the nymph-adult transition in alate aphids, while AcInR2 had the highest expression level in second instar nymphs. AcInR1 is important in aphid development from fourth instar nymphs to adults as verified by dsRNA feeding mediated RNAi. The silencing of AcInR1 or/and AcInR2 produced a variety of phenotypes including adults with normal wings, malformed wings, under-developed wings, and aphids failing to develop beyond the nymphal stages...
February 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28230720/role-of-vitamin-a-retinoic-acid-in-regulation-of-embryonic-and-adult-hematopoiesis
#6
REVIEW
Ana Cañete, Elena Cano, Ramón Muñoz-Chápuli, Rita Carmona
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being necessary for adult tissue homeostasis. Vitamin A deficiency during pregnancy increases risk of maternal night blindness and anemia and may be a cause of congenital malformations. Childhood Vitamin A deficiency can cause xerophthalmia, lower resistance to infection and increased risk of mortality...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28230604/stereophotogrammetric-evaluation-of-labial-symmetry-after-surgical-treatment-of-a-lymphatic-malformation
#7
Valentina Pucciarelli, Filippo Tarabbia, Marina Codari, Giulia Andrea Guidugli, Giacomo Colletti, Giovanni Dell'Aversana Orabona, Bernardo Bianchi, Chiarella Sforza, Federico Biglioli
Lymphatic malformations (LMs) are rare, nonmalignant masses, frequently involving the head and neck, potentially causing impairment to the surrounding anatomical structures. Major LMs frequently cause facial disfigurement with obvious consequences on self-esteem and social functioning. The attempt to restore symmetry is thus one of the main goals of treatment. In this study, the authors present a not-invasive method to objectively quantify the symmetry of the labial area before and after surgical treatment of a LM, affecting a 16-year-old woman...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#8
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28229997/pregnancy-combined-with-epilepsy-and-cerebral-cavernous-malformation
#9
Ya-Lan Xu, Jun-Tao Liu, Yi-Jun Song, Xi-Ya Zhou, Qing-Wei Qi, Xu-Ming Bian, Zhi-Qin Xu, Lei Li
No abstract text is available yet for this article.
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229609/laparoscopic-treatment-of-hemorrhagic-meckel-diverticulum-after-diagnosis-with-wireless-capsule-endoscopy-and-double-balloon-enteroscopy
#10
Haibo Yu, Hongliang Song, Jing Cai
Meckel diverticulum (MD) is a common small intestinal malformation. The difficulty of MD with hemorrhage treatment lies in preoperative diagnosis. Wireless capsule endoscopy (WCE) and double-balloon enteroscopy (DBE) have been widely used to diagnose and treat diseases of the small intestine, but only rarely have they been used in combination to diagnose and treat bleeding MD. We successfully diagnosed and treated a patient with MD with hemorrhage with a combination of WCE, DBE, and laparoscopy. A 17-year-old man presented to the emergency room with hematochezia and was admitted for testing...
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229343/a-case-of-pancreaticobiliary-maljunction-with-a-connecting-duct-without-a-long-common-channel
#11
Masataka Kikuyama, Terumi Kamisawa, Sawako Kuruma, Kazuro Chiba, Satomi Koizumi, Taku Tabata, Goro Honda
Pancreaticobiliary maljunction (PBM) is a congenital malformation in which the pancreatic and bile ducts join anatomically outside the duodenal wall, usually forming an abnormally long common channel. In PBM, since the long common channel defeats the effect of the sphincter of Oddi, pancreatobiliary reflux frequently occurs, resulting in high rates of biliary tract cancers. We present the case of a 68-year-old female with advanced gallbladder cancer concomitant with bile duct cancer associated with PBM without biliary dilatation that had an extremely rare configuration showing a connecting duct without a long common channel...
February 22, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28228882/renal-lymphangiomatosis-a-rare-differential-diagnosis-for-autosomal-recessive-polycystic-kidney-disease-in-pediatric-patients
#12
Amna A Kashgari, Nabil Ozair, Amin Al Zahrani, Mohammed O Al Otibi, Khalid Al Fakeeh
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics. Radiologist knowledge of the unique radiological features of this entity helps patient's safety in terms of management. We study the case of a 27-month-old boy presented to the emergency department with upper respiratory tract infection. He had a high blood pressure and had been diagnosed earlier with autosomal recessive polycystic kidney disease based on renal ultrasound findings...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#13
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28228731/increased-hemodynamic-load-in-early-embryonic-stages-alters-endocardial-to-mesenchymal-transition
#14
Madeline Midgett, Claudia S López, Larry David, Alina Maloyan, Sandra Rugonyi
Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease. However, the progressive detrimental remodeling processes that relate altered blood flow to cardiac defects remain unclear. Endothelial-mesenchymal cell transition is one of the many complex developmental events involved in transforming the early embryonic outflow tract into the aorta, pulmonary trunk, interventricular septum, and semilunar valves...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28228277/prospects-for-a-zika-virus-vaccine
#15
REVIEW
Dan H Barouch, Stephen J Thomas, Nelson L Michael
A recent unprecedented outbreak of Zika virus (ZIKV) in the Americas has been associated with microcephaly and other congenital malformations in infants as well as Guillain-Barre syndrome in adults. The development of a safe and effective ZIKV vaccine is therefore an urgent global health priority. Promising data from preclinical vaccine studies in mice and monkeys suggest that an effective vaccine will likely be possible, but important scientific challenges remain. Here we review the current state of ZIKV vaccine development...
February 21, 2017: Immunity
https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#16
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28226083/dengue-infection-in-the-nervous-system-lessons-learned-for-zika-and-chikungunya
#17
Marzia Puccioni-Sohler, Natalia Roveroni, Carolina Rosadas, Fernando Ferry, Jose Mauro Peralta, Amilcar Tanuri
Dengue, Zika and Chikungunya are emerging arboviruses and important causes of acute febrile disease in tropical areas. Although dengue does not represent a new condition, a geographic expansion over time has occurred with the appearance of severe neurological complications. Neglect has allowed the propagation of the vector (Aedes spp), which is also responsible for the transmission of other infections such as Zika and Chikungunya throughout the world. The increased number of infected individuals has contributed to the rise of neurological manifestations including encephalitis, myelitis, meningitis, Guillain-Barré syndrome and congenital malformations such as microcephaly...
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28225638/laparoscopic-resection-of-pancreatic-tumors-in-children-results-of-a-multicentric-survey
#18
Ciro Esposito, Pascal De Lagausie, Maria Escolino, Amulya Saxena, George W Holcomb, Alessandro Settimi, Francois Becmeur, David van der Zee
AIM: This study aimed to report the results of a multicentric survey about laparoscopic treatment of pancreatic tumors in children. MATERIALS AND METHODS: The data of patients operated using minimally invasive surgery (MIS) for a pancreatic tumor in 5 International centers of Pediatric Surgery in the last 5 years were retrospectively reviewed. We recorded data relating to the clinical presentation, diagnostic evaluation, surgical technique, and outcome. RESULTS: Fifteen patients (average age 2...
February 22, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28225486/abdominal-cystic-lymphangioma-in-a-term-newborn-a-case-report-and-update-of-new-treatments
#19
Ilaria Amodeo, Giacomo Cavallaro, Genny Raffaeli, Lorenzo Colombo, Monica Fumagalli, Riccardo Cavalli, Ernesto Leva, Fabio Mosca
INTRODUCTION: Lymphatic malformations are benign anomalies derived from the abnormal development of lymphatic channels. Usually asymptomatic, they can cause compression on adjacent structures or present acute complications (bleeding or infection). Small asymptomatic lesions can be conservatively managed since the possibility of spontaneous regressions is described, while symptomatic lesions require active management. Less invasive therapeutic options are now preferred instead of surgery (sclerotherapy, laser therapy)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28224400/multimodality-imaging-of-pediatric-airways-disease-indication-and-technique
#20
REVIEW
Nicola Stagnaro, Francesca Rizzo, Michele Torre, Giuseppe Cittadini, GianMichele Magnano
Congenital and acquired airway anomalies represent a relatively common albeit diagnostic and therapeutic challenge, even for the most skilled operators in dedicated centers. Airway malformations encompass a wide spectrum of pathologies involving the larynx, trachea and bronchi, esophagus, mediastinal vessels. These developmental lesions are often isolated but the association of two or more anomalies is not infrequent. From the traditional chest X-ray to the newest applications of Optical Coherence Tomography, non- or mini-invasive diagnostic techniques represent useful tools to integrate invasive procedures...
February 21, 2017: La Radiologia Medica
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