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https://www.readbyqxmd.com/read/28732419/evolution-of-different-surgical-treatment-techniques-for-management-and-improving-outcome-of-chiari-malformation-type-1
#1
Guru Dutta Satyarthee
No abstract text is available yet for this article.
August 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28732180/the-role-of-noncoding-genetic-variation-in-isolated-orofacial-clefts
#2
F Thieme, K U Ludwig
In the past decade, medical genetic research has generated multiple discoveries, many of which were obtained via genome-wide association studies (GWASs). A major GWAS finding is that the majority of risk variants for complex traits map to noncoding regions. This has resulted in a paradigm shift in terms of the interpretation of human genomic sequence variation, with more attention now being paid to what was previously termed "junk DNA." Translation of genetic findings into biologically meaningful results requires 1) large-scale and cell-specific efforts to annotate non-protein-coding regions and 2) the integration of comprehensive genomic data sets...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28731396/contralateral-posterior-interhemispheric-approach-to-deep-medial-parietooccipital-vascular-malformations-surgical-technique-and-results
#3
Jan-Karl Burkhardt, Ethan A Winkler, Michael T Lawton
OBJECTIVE Deep medial parietooccipital arteriovenous malformations (AVMs) and cerebral cavernous malformations (CCMs) are traditionally resected through an ipsilateral posterior interhemispheric approach (IPIA), which creates a deep, perpendicular perspective with limited access to the lateral margins of the lesion. The contralateral posterior interhemispheric approach (CPIA) flips the positioning, with the midline positioned horizontally for retraction due to gravity, but with the AVM on the upper side and the approach from the contralateral, lower side...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28730721/ephb4-mutation-implicated-in-capillary-malformation-arteriovenous-malformation-syndrome-a-case-report
#4
JiaDe Yu, Jenna L Streicher, Livija Medne, Ian D Krantz, Albert C Yan
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM-AVM syndrome without RASA1 mutations. We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis...
July 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28730314/spontaneous-thrombosis-of-a-giant-cerebral-varix-in-a-pediatric-patient
#5
Mesut Ozturk, Serdar Aslan, Meltem Ceyhan Bilgici, Aysegul Idil Soylu, Keramettin Aydin
INTRODUCTION: Cerebral cortical venous aneurysm also known as cerebral varix is a rare entity that usually occurs in relation to high-flow draining veins of arteriovenous fistulas, arteriovenous malformations, and venous angioma. Isolated cerebral varix is an extremely rare entity. CASE REPORT: We present a 1-year-old male with isolated cerebral varix. During follow-up, the varix thrombosed spontaneously without causing any neurological deficits. CONCLUSION: To the best of our knowledge, spontaneous asymptomatic thrombosis of an isolated cerebral varix without any clinical finding was reported for the first time in the literature...
July 20, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28730256/advanced-metastatic-breast-cancer-in-pregnancy-the-imperative-of-physical-breast-examination-in-pregnancy
#6
Anca Angela Simionescu, Claudia Valentina Georgescu, Mirela Corina Ghiluşi, Sabrina Ioana Stoica, Mircea Dragoş Median
Breast cancer is the most frequent cancer diagnosed among women; its association with pregnancy is not encountered. As childbearing age is increasing, the diagnosis of breast cancer associated pregnancy tends to be more often than years ago. Here we report a case of a 37-year-old patient, gravida 7, para 7, diagnosed at 30 weeks gestation with metastatic breast cancer. The patient presented to hospital due to an altered performance status. Obstetrical evaluation was within normal range. A metastatic infiltrating breast cancer poorly differentiated (G3) with satellite skin lesions (T4b), ipsilateral axillary and supraclavicular lymph nodes (N3), lung metastasis bilateral with pleural effusion and hepatic metastasis (M1), were diagnosed...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#7
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729296/analysis-of-30-spinal-angiograms-falsely-reported-as-normal-in-18-patients-with-subsequently-documented-spinal-vascular-malformations
#8
P Barreras, D Heck, B Greenberg, J-P Wolinsky, C A Pardo, P Gailloud
BACKGROUND AND PURPOSE: The early diagnosis of spinal vascular malformations suffers from the nonspecificity of their clinical and radiologic presentations. Spinal angiography requires a methodical approach to offer a high diagnostic yield. The prospect of false-negative studies is particularly distressing when addressing conditions with a narrow therapeutic window. The purpose of this study was to identify factors leading to missed findings or inadequate studies in patients with spinal vascular malformations...
July 20, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28729012/evidence-that-children-born-at-early-term-37-38-6-7-weeks-are-at-increased-risk-for-diabetes-and-obesity-related-disorders
#9
Dorit Paz Levy, Eyal Sheiner, Tamar Wainstock, Ruslan Sergienko, Daniella Landau, Asnat Walfisch
BACKGROUND: Prematurity is known to be associated with high rates of endocrine and metabolic complications in the offspring. Early term (37 0/7-38 6/7 weeks' gestation) born offspring were also shown to exhibit long term morbidity resembling that of late preterm, in several health categories. OBJECTIVE: We aimed to determine whether early term delivery impacts on the long-term endocrine and metabolic health of the offspring. STUDY DESIGN: A population-based cohort analysis was performed, including all term singleton deliveries occurring during 1991-2013 at a single regional tertiary medical center...
July 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28728859/-multiple-granular-cell-tumours-in-a-patient-with-noonan-s-syndrome-and-juvenile-myelomonocytic-leukaemia
#10
J Castagna, J Clerc, A-S Dupond, C Laresche
BACKGROUND: Granular cell tumour (GCT) is a rare form of tumour comprising Schwann cells. Herein, we report a case of a child presenting Noonan syndrome complicated by juvenile myelomonocytic leukaemia (JMML) and who also developed a multiple form of GCT. We discussed the molecular mechanisms that might account for this association. PATIENTS AND METHODS: A six-year-old boy with Noonan syndrome complicated by JMML presented three asymptomatic subcutaneous nodules on his back, forearm and neck...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28728536/postnatal-delayed-exacerbation-of-dural-sinus-malformation-associated-with-brainstem-cavernous-malformations-a-case-report
#11
Katsuhiro Mizutani, Tomoru Miwa, Takenori Akiyama, Tokunori Kanazawa, Hideaki Nagashima, Kei Miyakoshi, Yasunari Niimi, Kazunari Yoshida
Dural sinus malformation (DSM) is a rare paediatric vascular malformation characterised by abnormal dilation of the posterior dural sinus. Owing to its rarity, the pathophysiology of DSM has not been fully elucidated. We report a case of prenatally diagnosed DSM with an unusual clinical course. We detected DSM in a male foetus in the 26th week of gestation by using foetal ultrasonography. Although the DSM regressed during the foetal stage and the arteriovenous shunt was insignificant in the neonate, the shunt rapidly developed four months after birth...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28728325/the-usefulness-of-surgical-treatment-in-slow-flow-vascular-malformation-patients
#12
Gyu Bin Kang, Yong Chan Bae, Su Bong Nam, Seong Hwan Bae, Ji Yoon Sung
BACKGROUND: Many difficulties exist in establishing a treatment plan for slow-flow vascular malformation (SFVM). In particular, little research has been conducted on the surgical treatment of SFVMs. Thus, we investigated what proportion of SFVM patients were candidates for surgical treatment in clinical practice and how useful surgical treatment was in those patients. METHODS: This study included 109 SFVM patients who received care at the authors' clinic from 2007 to 2015...
July 2017: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/28728240/-the-implantation-of-bonebridge-in-bilateral-congenital-malformation-of-external-and-middle-ear
#13
S Q Zhao, R Ren, D M Han, Y Li, X B Ma, D N Wang, Y L Li
Objective: To evaluate the auditory efficacy of Bonebridge implantation in patients with bilateral congenital malformation of external and middle ear. Methods: Eleven cases (6 males and 5 females) had unilateral Bonebridge implantation. The age ranged from 8 to 26 and the average age was 16.9. Seven to ten days after operation, the first fitting was undergone. In acoustic sound field, the average auditory thresholds were respectively measured for unaided ears and Bonebridge implanted ears by pure tone auditory (PTA, 0...
July 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28728073/sudden-perinatal-death-due-to-rupture-of-congenital-cardiac-diverticulum-pathological-findings-and-medico-legal-investigations-in-malpractice-charge
#14
Matteo Marchesi, Michele Boracchi, Guendalina Gentile, Francesca Maghin, Riccardo Zoja
Congenital diverticula of the left ventricle, very rare malformations, are determined by an abnormal embryonic development of the ventricular wall and can be isolated or associated to other cardiac anomalies. In most of the cases, these pathologies are not symptomatic and in some patients can be associated to ventricular arrhythmia, cardiac rupture with tamponade and sudden death. Authors are presenting the case of a sudden death in an 8-weeks-old newborn due to rupture of a cardiac congenital diverticulum of the left ventricle, discovered only at the moment of the autopsic examination...
July 12, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#15
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727971/congenital-extrahepatic-portosystemic-shunt-abernethy-malformation-type-ib-with-associated-hepatocellular-carcinoma-case-report-and-literature-review
#16
Mark Benedict, Manuel Rodriguez-Davalos, Sukru Emre, Zenta Walther, Raffaella Morotti
Abernethy malformation, also termed congenital portosystemic shunt and congenital absence of portal vein is the result of malformation of the splanchnic venous system. Congenital portosystemic shunts are divided into extra- and intrahepatic shunts. Two shunts have been defined: Type I is characterized by the complete diversion of portal blood into the vena cava with an associated congenital absence of the portal vein. Type II is defined by an intact but diverted portal vein through a side-to-side, extrahepatic connection to the vena cava...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727248/vascular-anomaly-cases-for-the-pediatric-hematologist-oncologists-an-interdisciplinary-review
#17
REVIEW
Denise M Adams, Leonardo R Brandão, Caitlin M Peterman, Anita Gupta, Manish Patel, Steven Fishman, Cameron C Trenor
Vascular anomalies (VAs) are classified as tumors or malformations depending on their clinical characteristics, pathological diagnosis, and genomic information. Diagnosis can be challenging because of the heterogeneity of clinical presentation; thus, the best diagnosis and care are provided by an interdisciplinary team of specialists. Over the past 10 years, an increasing number of pediatric hematologist/oncologists are caring for patients with VAs secondary to new medical therapy options and clinical trials...
July 20, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28726807/when-genotype-is-not-predictive-of-phenotype-implications-for-genetic-counseling-based-on-21-594-chromosomal-microarray-analysis-examinations
#18
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon, Mordechai Shohat
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group III, postnatal-individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726247/women-s-attitudes-to-safe-induced-abortion-in-iran-findings-from-a-pilot-survey
#19
Nader Aghakhani, Michelle Cleary, Abbas Zarei, Violeta Lopez
AIM: To explore attitudes to safe-induced abortion among pregnant women in Iran. BACKGROUND: In Islamic teachings abortion is generally forbidden. However in specific circumstances abortion may be permitted and currently, in Iran, the law allows termination of pregnancy only if three specialist physicians confirm that the pregnancy outcome may be harmful for the mother during pregnancy or after birth. DESIGN: Pilot, descriptive survey. METHODS: A 15-item structured questionnaire focusing on attitudes to safe-induced abortion was developed and pilot tested...
July 20, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28726062/valproic-acid-in-women-and-girls-of-childbearing-age
#20
REVIEW
Dorothy Gotlib, Rachel Ramaswamy, Jacob E Kurlander, Alana DeRiggi, Michelle Riba
PURPOSE OF REVIEW: The aim of this paper is to evaluate recent literature on valproic acid (VPA) in women and girls of childbearing age and to emphasize new findings. RECENT FINDINGS: Recent research confirms VPAs teratogenicity and risk of hormone disruption. VPA exposure in utero increases the risk for a variety of major congenital malformations (MCMs), reduced IQ and behavioral problems. In girls and women, VPA increases the risk of hormone abnormalities, obesity, and polycystic ovarian syndrome (PCOS)...
September 2017: Current Psychiatry Reports
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