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congenital anomalies

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https://www.readbyqxmd.com/read/28437365/a-method-to-account-for-variation-in-congenital-heart-surgery-length-of-stay
#1
Andrew Brennan, Kimberlee Gauvreau, Jean Connor, Melvin Almodovar, James DiNardo, Puja Banka, Meena Nathan, Derek Mathieu, Aditya Kaza, John E Mayer, Lisa Bergersen
OBJECTIVES: We sought to develop a risk-adjustment methodology for length of stay in congenital heart surgery, as none exist. DESIGN: Prospective cohort analysis combined with previously obtained retrospective cohort analysis of a Department of Cardiovascular Surgery clinical database. PATIENTS: Patients discharged from Boston Children's Hospital between October 1, 2006, and May 31, 2014, that underwent a congenital heart surgery procedure(s) linked to one of 103 surgical procedure types...
April 21, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28437357/the-effect-of-concomitant-rib-deformity-in-congenital-scoliosis-on-spinal-curve-correction-after-segmental-pedicle-screw-instrumentation
#2
Ebrahim Ameri, Daniel F Fouladi, Mir Bahram Safari, Hossein Vahid Tari, Hassan Ghandhari
STUDY DESIGN: A single-center, prospective study. OBJECTIVE: To investigate the effect of rib anomaly on surgical curve correction outcome in congenital scoliosis. SUMMARY OF BACKGROUND DATA: The presence of rib anomalies may complicate surgical correction of congenital scoliosis. The outcome of surgical correction, however, has not been documented in scoliotic patients with and without rib deformity. METHODS: Percent Cobb angle decrease (CAD) after operation was calculated in 94 patients with congenital scoliosis...
May 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28436940/disruption-of-spatiotemporal-hypoxic-signaling-causes-congenital-heart-disease-in-mice
#3
Xuejun Yuan, Hui Qi, Xiang Li, Fan Wu, Jian Fang, Eva Bober, Gergana Dobreva, Yonggang Zhou, Thomas Braun
Congenital heart disease (CHD) represents the most prevalent inborn anomaly. Only a minority of CHD cases are attributed to genetic causes, suggesting a major role of environmental factors. Nonphysiological hypoxia during early pregnancy induces CHD, but the underlying reasons are unknown. Here, we have demonstrated that cells in the mouse heart tube are hypoxic, while cardiac progenitor cells (CPCs) expressing islet 1 (ISL1) in the secondary heart field (SHF) are normoxic. In ISL1+ CPCs, induction of hypoxic responses caused CHD by repressing Isl1 and activating NK2 homeobox 5 (Nkx2...
April 24, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28436373/fatco-syndrome-fibular-aplasia-tibial-campomelia-oligosyndactyly-with-talar-aplasia-a-case-study
#4
Khurshid Ahmad, Hilal Ahmad Malla, Sheikh Dawood
FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies...
January 26, 2017: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28435114/the-decussating-fibers-of-the-lumbar-thoracolumbar-fascia-a-landmark-for-identifying-the-l5-spinous-process
#5
Fernando Alonso, Tarush Rustagi, Christian Fisahn, Doniel Drazin, Brady Gardner, Joe Iwanaga, Jens R Chapman, Rod J Oskouian, R Shane Tubbs
INTRODUCTION: The thoracolumbar fascia has been well studied and is known to have crisscrossing fibers. Based on surgical experience, we have hypothesized that the decussating fibers of this fascia may indicate a specific vertebral level. Therefore, the following anatomical study was performed. METHODS: Twenty adult fresh frozen cadavers aged 72-84 years old at death were placed in the prone position and the skin of the lumbar and upper sacrum was removed. Careful attention was given to the thoracolumbar fascia and any fibers of it that grossly crossed the midline to inderdigitate with its contralateral counterpart...
April 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#6
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28434210/changes-in-perinatal-hospital-deaths-occurring-outside-the-neonatal-intensive-care-unit-over-a-decade
#7
Amélie Du Pont-Thibodeau, Keith Barrington, Catherine Taillefer, Annie Janvier
AIM: Perinatal deaths occurring outside the neonatal intensive care unit (NICU) are rarely recorded in outcome studies, despite having a direct impact on perinatal statistics. Our aim was to investigate the timing and modes of perinatal deaths that occurred outside the NICU and changes over time. METHOD: We reviewed all perinatal deaths from 22 weeks of gestation onwards, without NICU admissions, during two periods in a Canadian tertiary mother and baby hospital and categorised deaths according to nine specific categories...
April 23, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28433207/correlation-of-frontal-sinus-recess-anatomy-with-ethnicity-gender-and-pathology
#8
Laura K House, Scott P Stringer, Samantha Seals
PURPOSE: Research on frontal sinus cells has been conflicting regarding relationship between frontal sinus cells and frontal sinus disease. There are no published studies regarding gender differences in frontal sinus disease. No comparisons between African Americans and Caucasians and frontal sinus disease have been published. This study attempts to define the above relationships as well as the relationship between number and types of cells and disease. METHODS: A retrospective chart review was performed on sinus CT scans done from 2003 to 2011 at an academic medical center...
April 12, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28429036/a-review-of-zika-virus-infections-in-pregnancy-and-implications-for-antenatal-care-in-singapore
#9
Harvard Zhenjia Lin, Paul Anantharajah Tambyah, Eu Leong Yong, Arijit Biswas, Shiao-Yng Chan
Given the consensus that there is a causal relationship between Zika virus (ZIKV) infection in pregnancy and congenital Zika syndrome (CZS), clinicians must be prepared to manage affected patients despite the numerous gaps in current knowledge. The clinical course in pregnancy appears similar to that in non-pregnant women, although viraemia may be prolonged. ZIKV infection can be diagnosed by serum and urine reverse transcription-polymerase chain reaction, but commercially available serological tests are currently unreliable in dengue-endemic regions...
April 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28428837/large-is-required-for-normal-astrocyte-migration-and-retinal-vasculature-development
#10
Min Zhou, Herui Wang, Hui Ren, Rui Jiang, Chi Zhang, Xiaohui Wu, Gezhi Xu
BACKGROUND: Persistent fetal vasculature (PFV) is a congenital developmental anomaly of the eye that accounts for about 5% of childhood blindness. The molecular mechanism of PFV remains unclear. As a glycosyltransferase of α-dystroglycan, LARGE mutations have been found in congenital muscular dystrophy patients with brain abnormalities. Spontaneous Large mutant mice displayed similar symptoms of human muscle-eye-brain disorders. However, the detailed roles of Large in ocular vasculature development still need to be uncovered...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28426721/diagnosis-treatment-and-prognosis-of-small-bowel-volvulus-in-adults-a-monocentric-summary-of-a-rare-small-intestinal-obstruction
#11
Xiaohang Li, Jialin Zhang, Baifeng Li, Dehui Yi, Chengshuo Zhang, Ning Sun, Wu Lv, Ao Jiao
OBJECTIVES: Small bowel volvulus is a rare disease, which is also challenging to diagnose. The aims of this study were to characterize the clinical and radiological features associated with small bowel volvulus and treatment and to identify risk factors for associated small bowel necrosis. METHODS: Patients with small bowel volvulus who underwent operations from January 2001 to December 2015 at the First Affiliated Hospital of China Medical University (Shenyang, China) were reviewed...
2017: PloS One
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#12
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28424012/internal-carotid-artery-agenesis-a-case-report-and-review-of-literature
#13
Shuo Li, Kusum Hooda, Nishant Gupta, Yogesh Kumar
Congenital agenesis of the internal carotid artery is a very rare anomaly. Intracranial circulation in the involved internal carotid artery territory is maintained by collateral circulation from the contralateral internal carotid artery through the anterior communicating artery and from the vertebrobasilar system through the posterior communicating artery. Usually, patients with internal carotid artery agenesis are asymptomatic due to collateral circulation, but they may present with headache, seizures, or transient ischemic attack...
April 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#14
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422942/development-of-tandem-mass-spectrometry-based-creatinine-measurement-using-dried-blood-spot-for-newborn-mass-screening
#15
Masaru Nakano, Osamu Uemura, Masataka Honda, Tetsuya Ito, Yoko Nakajima, Shinji Saitoh
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent etiology of pediatric chronic kidney disease (CKD). However, no robust mass screening methods have been developed to detect patients with CAKUT, making early intervention to prevent progressive renal failure challenging. METHODS: We applied tandem mass spectrometry (MS/MS) to measure the creatinine (Cr) value from dried blood spot (DBS) analysis, which has been used for newborn mass screening...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#16
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28422522/molecular-genetic-characterization-of-a-chinese-family-with-severe-split-hand-foot-malformation
#17
Lihua Cao, Wei Yang, Shusen Wang, Chen Chen, Xue Zhang, Yang Luo
AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus...
April 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#18
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#19
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421730/facies-the-value-of-an-old-diagnostic-tip-in-pediatric-dermatology
#20
Carmelo Schepis, Corrado Romano
The authors examine what's meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.
April 19, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
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