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https://www.readbyqxmd.com/read/28823106/mitochondrial-outer-membrane-permeabilization-a-focus-on-the-role-of-mitochondrial-membrane-structural-organization
#1
REVIEW
Siti Haji Suhaili, Hamed Karimian, Matthew Stellato, Tzong-Hsien Lee, Marie-Isabel Aguilar
Apoptosis is important in regulating cell death turnover and is mediated by the intrinsic and death receptor-based extrinsic pathways which converge at the mitochondrial outer membrane (MOM) leading to mitochondrial outer membrane permeabilization (MOMP). MOMP results in the release of apoptotic proteins that further activate the downstream pathway of apoptosis. Thus, tight regulation of MOMP is crucial in controlling apoptosis, and a lack of control may lead to tissue and organ malformation and the development of cancers...
August 19, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28822558/wilms-tumor-screening-in-diffuse-capillary-malformation-with-overgrowth-and-macrocephaly-capillary-malformation-a-retrospective-study
#2
Caitlin M Peterman, Sophie Vadeboncoeur, John B Mulliken, Steven J Fishman, Marilyn G Liang
BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor...
August 16, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28822540/life-threatening-complications-and-mortality-of-minimally-invasive-pectus-surgery
#3
André Hebra, Robert E Kelly, Marcelo M Ferro, Mustafa Yüksel, Jose Ribas M Campos, Donald Nuss
The prevalence and type of life-threatening complications related to the minimally invasive repair of pectus excavatum (MIRPE) and bar removal are unknown and underreported. The purpose of this communication is to make surgeons aware of the risk of these life threatening complications as well as the modifications which have been developed to prevent them. METHODS: Data related to life-threatening complications of Pectus Excavatum (PE) patients was obtained from four sources: 1. A survey of Chest Wall International Group (CWIG) surgeons who specialize in repairing congenital chest wall malformations, 2...
July 31, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28822441/-clinical-characteristics-of-bronchopulmonary-foregut-malformation
#4
J Liu, J Yin, X Y Liu, Y H Hu, X L Ma, R Zhang, Q Zeng, B P Xu, K L Shen
Objective: To analyze the clinical characteristics, diagnosis and treatment of bronchopulmonary foregut malformation(BPFM). Method: The clinical manifestations, imaging findings and treatment of 8 patients with BPFM were analyzed retrospectively from January 2006 to May 2016 in Beijing Children's Hospital. Result: The age of children varied from 2 months to 7 years and 3 children were male while 5 female. Symptoms showed cough in 6 cases, fever in 4 cases, bucking when intaking of fluids or foods in 3 cases, tachypnea in 1 case, wheezing in 1 case, vomiting in 1 case, haematemesis in 1 case Pulmonary signs were decreased breath sounds in 4 cases, phlegm rale in 3 cases, shortness of breath in 2 cases, wheeze in 1 case, and retraction in 1 case...
August 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28821493/postnatal-management-of-asymptomatic-congenital-pulmonary-malformations-moving-towards-evidence-based-decisions
#5
EDITORIAL
Christophe Delacourt
No abstract text is available yet for this article.
September 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28821323/post-mortem-magnetic-resonance-pmmr-imaging-of-the-brain-in-fetuses-and-children-with-histopathological-correlation
#6
REVIEW
S C Shelmerdine, J C Hutchinson, N J Sebire, T S Jacques, O J Arthurs
Post-mortem magnetic resonance (PMMR) imaging is rapidly emerging as an alternative, "less invasive", and more widely accepted investigative approach for perinatal deaths in the UK. PMMR has a high diagnostic accuracy for congenital and acquired fetal neuropathological anomalies compared to conventional autopsy, and is particularly useful when autopsy is non-diagnostic. The main objectives of this review are to describe and illustrate the range of common normal and abnormal central nervous system (CNS) findings encountered during PMMR investigation...
August 15, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28820756/telmesani-radiological-classification-of-the-location-of-the-vertical-segment-of-the-facial-nerve-impact-on-surgical-approach-in-cochlear-implant-surgery
#7
Laila Mohammed Telmesani, Mona Khalid Alrammah
OBJECTIVE: This study was conducted to establish a radiological classification of the location of the vertical segment of the facial nerve (VSFN) and to see if this has implications on the surgical technique needed to access the round window niche (RWN) in cochlear implant (CI) surgery. STUDY DESIGN: Observational case series study. SETTING: Tertiary referral center. PATIENTS: One hundred twenty seven patients underwent CI surgery, and high resolution computed tomography (HRCT) of 140 temporal bones was studied...
August 17, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28820694/differential-neurovirulence-of-african-and-asian-genotype-zika-virus-isolates-in-outbred-immunocompetent-mice
#8
Nisha K Duggal, Jana M Ritter, Erin M McDonald, Hannah Romo, Farshad Guirakhoo, Brent S Davis, Gwong-Jen J Chang, Aaron C Brault
Although first isolated almost 70 years ago, Zika virus (ZIKV; Flavivirus, Flaviviridae) has only recently been associated with significant outbreaks of disease in humans. Several severe ZIKV disease manifestations have also been recently documented, including fetal malformations, such as microcephaly, and Guillain-Barré syndrome in adults. Although principally transmitted by mosquitoes, sexual transmission of ZIKV has been documented. Recent publications of several interferon receptor knockout mouse models have demonstrated ZIKV-induced disease...
August 14, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28820561/quadricuspid-aortic-valve-associated-with-aortic-regurgitation-mitral-regurgitation-and-aortic-dilatation
#9
Serkan Sivri, Serdal Bastug, Murat Can Guney, Yakup Alsancak, Elcin Ozdemir, Engin Bozkurt
The quadricuspid aortic valve (QAV) is a very uncommon congenital malformation with an estimated incidence of 0.003% to 0.043% of all congenital heart diseases. Combinations of QAV with several different congenital malformations have been described. The case is reported of a type A QAV associated with moderate aortic regurgitation, mild mitral regurgitation, and ascending aorta dilatation. This interesting case was referred for close follow up.
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820281/isolated-cranio-orbitofacial-neurofibroma-mimicking-vascular-malformation
#10
Harinder S Chahal, Brandon Kuiper, Puneet S Braich, A Tyrone Glover
Isolated neurofibromas in the absence of systemic neurofibromatosis are known as solitary or localized neurofibromas. When present in the orbit, these lesions may appear clinically and radiographically similar to other tumors, complicating diagnosis and management. Key radiographic signs may guide clinicians to the correct diagnosis when the presentation and patient demographic data obfuscate the disease entity. We present a case of a large multi-lobulated neurofibroma misdiagnosed as a lymphangioma. A brief review of these tumors emphasizing key radiographic features is also included...
August 18, 2017: Orbit
https://www.readbyqxmd.com/read/28820225/bilateral-thalamic-edema-from-coexisting-choroid-plexus-arteriovenous-malformation-and-sinus-thrombosis-case-report
#11
Ryan B Kochanski, Andrew K Johnson, Roham Moftakhar
Bilateral thalamic dysfunction secondary to venous congestion may result from either venous sinus thrombosis or high flow arteriovenous malformations or a combination of both. We present a case of bilateral thalamic edema resulting from concomitant choroid plexus arteriovenous malformation (AVM) and straight sinus thrombosis and describe our treatment approach. The patient presented with several weeks of progressive confusion and memory deficits. Magnetic resonance imaging and venography (MRI/ MRV) showed bilateral thalamic T2 hyperintensities and straight sinus thrombosis...
2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28820011/unusual-complication-of-the-nuss-procedure-fistulization-of-the-internal-thoracic-artery-to-the-pulmonary-artery
#12
Michael C Mongé, David Wax, Katherine Barsness
Although minimally invasive repair of pectus excavatum has been shown to have a low complication rate in large series, several case reports have documented life-threatening complications, including bleeding and cardiac perforation. We present a rare case of an arteriovenous malformation from the internal thoracic artery to the pulmonary artery caused by occlusion of the internal thoracic artery by the Nuss bar followed by an unidentified angiogenic process. The patient became symptomatic and required transcatheter coil embolization...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28819935/plasma-biomarkers-of-inflammation-reflect-seizures-and-hemorrhagic-activity-of-cerebral-cavernous-malformations
#13
Romuald Girard, Hussein A Zeineddine, Maged D Fam, Anoop Mayampurath, Ying Cao, Changbin Shi, Robert Shenkar, Sean P Polster, Michael Jesselson, Ryan Duggan, Abdul-Ghani Mikati, Gregory Christoforidis, Jorge Andrade, Kevin J Whitehead, Dean Y Li, Issam A Awad
The clinical course of cerebral cavernous malformations (CCMs) is highly variable. Based on recent discoveries implicating angiogenic and inflammatory mechanisms, we hypothesized that serum biomarkers might reflect chronic or acute disease activity. This single-site prospective observational cohort study included 85 CCM patients, in whom 24 a priori chosen plasma biomarkers were quantified and analyzed in relation to established clinical and imaging parameters of disease categorization and severity. We subsequently validated the positive correlations in longitudinal follow-up of 49 subjects...
August 17, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/28819893/-cochlear-implantation-in-a-girl-with-7q-microdeletion-syndrome
#14
A Roemer, T Lenarz, A Lesinski-Schiedat
One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations...
August 17, 2017: HNO
https://www.readbyqxmd.com/read/28818811/brain-tumors-and-epileptic-spasms-natural-history-and-outcomes
#15
Viviana Benitez, Peter E Manley, Liliana C Goumnerova, Chellamani Harini, Nicole J Ullrich
While brain tumors are a frequent cause of seizures, they rarely cause epileptic spasms (ES). The objective of this study was to investigate features of tumor-associated ES. We conducted a retrospective review of patients with ES and a brain tumor. Demographics; pathologic, radiologic, and EEG data; treatment response; and long-term outcome were collected. Twenty four patients were identified; 11 met inclusion criteria. Epileptic spasm (ES) onset occurred prior to tumor diagnosis in seven patients (63%), and after tumor resection in 4 patients (36%)...
August 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#16
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28818233/transcatheter-embolization-of-persistent-embryonic-veins-in%C3%A2-venous-malformation-syndromes
#17
Naiem Nassiri, Dustin Crystal, Lauren A Huntress, Susan Murphy
Persistent embryonic veins represent a major source of venous hypertension and morbidity in venous malformation syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevus, and skeletal deformities syndrome. Surgical stripping and phlebectomy are the most commonly reported alternatives to compression therapy for refractory cases. These techniques, although effective in those patients who meet the necessary anatomic criteria, can be associated with bleeding, wound-related complications, and recurrence...
September 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28818232/review-of-the-endothelial-pathogenic-mechanism-of-tie2-related-venous-malformation
#18
REVIEW
Zhong Du, JiaWei Zheng, ZhiYuan Zhang, YanAn Wang
BACKGROUND: Venous malformation (VM) is a type of disease involving vascular morphogenesis in humans. Clinically, VM can be sporadic or inherited. TIE2, also known as TEK or HYK, is a member of the receptor tyrosine kinase subfamily and is highly conserved among species. In 1996, an arginine-to-tryptophan substitution at position 849 (R849W) in TIE2 was found to induce hereditary VM. Additional alterations in TIE2 involved in the pathogenesis of inherited or sporadic VM have since been reported...
September 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28818226/percutaneous-ultrasound-guided-sclerotherapy-with-polidocanol-microfoam-for-lymphatic-malformations
#19
Takashi Yamaki, Yumiko Sasaki, Yuki Hasegawa, Atsuyoshi Osada, Hisato Konoeda, Atsumori Hamahata, Motohiro Nozaki, Hiroyuki Sakurai
BACKGROUND: Lymphatic malformations (LMs) are low-flow congenital lesions that consist of cysts of varying size. Sclerotherapy with intralesional bleomycin and OK-432 has been reported to yield dramatically beneficial results for this disorder. However, inflammation-related symptoms are often seen after treatment with these sclerosing agents. On the other hand, polidocanol (POL) is reportedly associated with fewer allergic and inflammatory reactions. Up to now, however, very few reports have documented the use of POL microfoam for treatment of LMs...
September 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28817893/re-peristeen%C3%A2-transanal-irrigation-in-paediatric-patients-with-anorectal-malformations-and-spinal-cord-lesions-a-multicentre-italian-study
#20
Douglas A Canning
No abstract text is available yet for this article.
September 2017: Journal of Urology
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