keyword
MENU ▼
Read by QxMD icon Read
search

Malformation

keyword
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719530/images-in-anesthesiology-congenital-pulmonary-airway-malformation
#2
Rajeev Subramanyam, Karyn Ledbetter, Robert Fleck, Mohamed Mahmoud
No abstract text is available yet for this article.
August 2017: Anesthesiology
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#3
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
July 18, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28718994/hemifacial-microsomia-in-a-cat
#4
R B Song, M Kent, E N Glass, G J Davis, F A Castro, A de Lahunta
A 7-month-old domestic medium hair cat presented with facial asymmetry affecting the bony and soft tissue structures of the right side of the head including the maxilla, nose, eye and pinna of the ear. Additionally, neurological dysfunction of the facial and vestibulocochlear nerves on the affected side was present. A congenital malformation affecting the first and second embryologic pharyngeal arches was suspected. This is the first case of hemifacial microsomia of likely congenital origin reported in a cat...
July 18, 2017: Anatomia, Histologia, Embryologia
https://www.readbyqxmd.com/read/28718898/exposure-to-biologic-therapies-during-conception-and-pregnancy-a-systematic-review
#5
E M Pottinger, R T Woolf, L S Exton, A D Burden, C Nelson-Piercy, C H Smith
Biologic therapies are effective treatments for psoriasis and are often used in women of childbearing age. To evaluate the safety of biologic therapy in conception and/or pregnancy, we have performed a systematic review of Pubmed, MEDLINE, EMBASE and Cochrane databases for multivariable adjusted studies of women exposed to biologic therapy relevant to the treatment of psoriasis during conception and/or pregnancy. We identified four population-based cohort studies involving 1300 women exposed to TNF-α inhibitors (TNFi) 3 months prior to or during the first 3 months of pregnancy...
July 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28718090/a-large-retroperitoneal-lymphatic-malformation-successfully-treated-with-traditional-japanese-kampo-medicine-in-combination-with-surgery
#6
Toko Shinkai, Kouji Masumoto, Fumiko Chiba, Nao Tanaka
BACKGROUND: Current treatment options for lymphatic malformations (LMs) are multimodal. Recently, the effectiveness of treating LMs with Eppikajyutsuto (TJ-28) has been reported. TJ-28 is a kind of oral herbal medicine classified as the traditional Japanese Kampo medicine. CASE PRESENTATION: A 12-year-old girl was admitted to our hospital for intermittent upper abdominal pain. Radiological examinations revealed a large (9.5 × 5.8 × 10.0 cm) retroperitoneal LM, which was suspected to adhering and stretching both pancreas head and duodenum...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28717976/-trauma-surgery-in-pacific-small-island-developing-states-sids
#7
REVIEW
H Oberli, C Martin
BACKGROUND: The small developing countries in the Pacific are grouped together as Small Island Development States (SIDS) because they face similar problems which they cannot cope with nationally. They are developing countries, so-called low and lower middle income countries (LMIC), are economically weak and the islands of the different nations are widely scattered. Approximately 80% of the 10 million inhabitants live in rural regions. EPIDEMIOLOGY AND SURGICAL CAPACITY: Over 40% of patients in the surgical departments of hospitals are hospitalized for injuries, and this tendency is increasing...
July 17, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#8
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717532/retrograde-intrarenal-surgery-for-renal-stones-part-1
#9
REVIEW
Ben Van Cleynenbreugel, Özcan Kılıç, Murat Akand
The main aim in the treatment of renal stones is to clearance of the stones completely with the least morbidity. Parallel to the improvements in technology during recent years, new flexible ureterorenoscopes and effective lithotripters such as holmium laser have been developed, thus retrograde intrarenal surgery (RIRS) has become an efficient and safe option in the management of urinary system stone disease with a gradually increasing popularity. Therewithal, innovations in auxiliary equipment such as guide-wires, ureteral access sheath and stone baskets have made this procedure more effective...
June 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28716735/pupillary-measurements-and-anisocoria-in-chinese-preschoolers-3-4-years-of-age-screened-using-the-plusoptix-a12c
#10
Dan Huang, Xiaohan Zhang, Yue Wang, Hui Zhu, Hui Ding, Jing Bai, Ji Chen, Zhujun Fu, Zijin Wang, Xuejuan Chen, Hu Liu
PURPOSE: To evaluate the distribution of the pupil diameter and distance and the incidence of anisocoria in a screening setting for Chinese preschoolers 3-4 years of age. METHODS: This was a cross-sectional, population-based study conducted in children aged 3-4 years in Nanjing, China. Plusoptix photoscreening was conducted without cycloplegia. Additional assessments were conducted, including light reaction test, reevaluation for anisocoria (in dim and bright light), swinging-flashlight test, and cocaine test, if necessary...
July 14, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28716646/pulmonary-infarction-in-the-beginning
#11
Peter B Terry, Philip Clay Buescher
BACKGROUND: Massive pulmonary emboli can cause abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of pulmonary infarction symptoms is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. METHODS: We examined the records of fifty six patients with Hereditary Hemorrhagic Telangiectasia (HHT) undergoing therapeutic balloon embolization of pulmonary arteriovenous malformations (PAVM's) in a single center after noting that some developed symptoms and signs compatible with pulmonary infarction...
July 14, 2017: Chest
https://www.readbyqxmd.com/read/28716574/foregut-duplication-cyst-with-pseudostratified-columnar-ciliated-epithelium-a-case-report-and-review-of-the-literature
#12
Joshua T Byers, Dingle Foote, Patrick Choi, Samuel W French
Foregut duplication cysts are extremely rare congenital malformations. Herein we report a case of 73 year old male with a left upper quadrant abdominal lesion identified on CT scan.
July 14, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28715806/real-time-volume-contrast-imaging-in-the-a-plane-with-a-four-dimensional-electronic-probe-facilitates-the-evaluation-of-fetal-extremities-in-midtrimester-sonograms
#13
Federica Bellussi, Giuliana Simonazzi, Ginevra Salsi, Francesca Guasina, Gianluigi Pilu
OBJECTIVE: To evaluate the efficiency of real-time volume contrast imaging in the A plane (VCI-A) of fetal extremities, compared with conventional two-dimensional ultrasound (2D). METHODS: This was a randomized controlled trial of 100 patients undergoing midtrimester sonography. The fetal limbs were imaged with either 2D or VCI-A with a four-dimensional (4D) electronic probe. Time required for the examination, number of images stored, and quality of the documentation were compared...
July 18, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28715773/developmental-toxicity-of-fe3o4-nanoparticles-on-cysts-and-three-larval-stages-of-artemia-salina
#14
Song Zhu, Ming-Yang Xue, Fei Luo, Wei-Chao Chen, Bin Zhu, Gao-Xue Wang
Using Artemia salina cysts (capsulated and decapsulated) and larvae (instar I, II and III) as experimental models, the potential effects of Fe3O4 nanoparticles (Fe3O4-NPs) on marine ecosystems were investigated. Hatchability, mortality and a number of ethological, morphological and biochemical parameters were selected as end-points to define the toxic responses. Data showed that the hatching rates of capsulated and decapsulated cysts were significantly decreased (p < 0.01) following exposure to 600 mg/L for 24 and 36 h...
July 14, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28715722/surgical-management-of-scalp-arteriovenous-malformations-using-a-novel-surgical-technique-case-series
#15
Srihari Bangalore Gangadharaswamy, Nagarjun Maulyavantham Nagaraj, Balaji Sanjeev Pai
INTRODUCTION: Scalp AVM (SAVM) is a rare condition. Although surgical excision is considered as definitive treatment for these lesions, troublesome intraoperative bleeding may pose a challenge. Embolization as an alternative modality is gaining popularity. Proximal feeding artery temporary clipping has been utilized by the authors in this series to address troublesome intraoperative bleeding. PRESENTATION OF CASES: The authors present their experience in the surgical management of 3 cases with SAVMs using proximal feeding artery temporary occlusion followed by total surgical excision...
July 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28714856/use-of-human-aortic-extracellular-matrix-as-a-scaffold-for-construction-of-patient-specific-tissue-engineered-vascular-patch
#16
Liping Gao, Mingjun Du, Jingjing Lv, Sebastian Schmull, Ritai Huang, Jun Li
Abstract Synthetic or biologic materials are usually used to repair vascular malformation in congenital heart defects; however, non-autologous materials show both mismatch compliance and antigenicity, as well as a lack of recellularization on its surface. Here, we constructed a tissue-engineered vascular patch (TEVP) using decellularized extracellular matrix (ECM) scaffold obtained from excised human aorta during surgery, which was seeded with patient-derived bone marrow CD34-positive (CD34+) progenitor cells...
July 17, 2017: Biomedical Materials
https://www.readbyqxmd.com/read/28714636/-corrective-surgery-for-lower-limb-length-discrepancy-and-malalignment-in-paediatric-orthopaedics
#17
Dimitri Ceroni, Raimonda Valaikaite, Catherine Grumetz, Odile Desvachez, Sophie Pusateri, Pierre Dunand, Vasiliki Spyropoulou, Eleftheria Samara
Lower limb length discrepancy and malalignment in paediatric orthopaedics constitute a set of acquired or malformative structural pathologies. These anomalies, which may alter statics of lower limbs, are susceptible to engender an asymmetry of mechanical constraints' distribution across joints, and thus to promote the onset of arthritic phenomenons. The purpose of this review's article is to define the limits of tolerance of the various malformations and describe the innovative techniques available in order to correct them...
February 15, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28714608/selective-serotonin-reuptake-inhibitors-during-pregnancy-do-we-have-now-more-definite-answers-related-to-prenatal-exposure
#18
REVIEW
Asher Ornoy, Gideon Koren
Despite extensive studies, there still seems to be uncertainty as to the possible reproductive risk of selective serotonin reuptake inhibitors (SSRIs) and selective serotonin norepinephrine reuptake inhibitors (SNRIs) in pregnancy. We, therefore, assess the current data on the risk/benefit of SSRI use in pregnancy. As the neurodevelopmental effects of SSRIs are discussed in another paper in this issue, we will not address the possible neurodevelopmental effects. Special emphasis is given to the newer, large population-based studies...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28713813/incidental-finding-of-an-aorto-right-atrial-fistula-in-a-patient-undergoing-repair-of-a-sinus-of-valsalva-aneurysm
#19
Byron R Rosero-Britton, Anthony Nguyen, Ibrahim Warsame, Muhammad Shabsigh, Luke Dong, James Wolfe, Bryan Whitson, Michael Essandoh
A sinus of Valsalva aneurysm is a rare malformation of the aortic root that can fistulize to another cardiac structure such as the right atrium. Although transthoracic echocardiography and computed tomography angiography have demonstrated utility for the diagnosis of a sinus of Valsalva-to-right atrial fistula, there are few cases where a misdiagnosis may occur. Intraoperative transesophageal echocardiography may be an essential imaging tool for the diagnosis and management of incidental findings such as a sinus of Valsalva-to-right atrial fistula during cardiac surgery and should be used routinely...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28713005/steroid-5-alpha-reductase-type-2-srd5a2-gene-v89l-polymorphism-and-hypospadias-risk-a-meta-analysis
#20
K Zhang, Y Li, Y Mao, M Ma
BACKGROUND: Hypospadias is a common congenital malformation in males, in which the urethral orifice is found on the ventral side of the penis as a result of incomplete fusion of urethral folds. The etiology of hypospadias is poorly understood, and may be multifactorial, including genetic, endocrine and environmental factors. The steroid 5-alpha-reductase type 2 (SRD5A2) gene, which is mainly expressed in the ventral side of the urethra in the process of male genital development, plays an important role in urethral shaping...
June 28, 2017: Journal of Pediatric Urology
keyword
keyword
51664
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"