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https://www.readbyqxmd.com/read/28087956/intralesional-injection-of-ok-432-in-cystic-hygroma
#1
M Hazim, S S Moses, I P Tan
BACKGROUND: Lymphangiomas are congenital malformations of the lymphatic system with characteristic dilated endothelium-lined spaces. It is vulnerability to infection or chemical irritants cause spontaneous reduction in size and in some cases complete resolution. Intralesional injection of OK-432 or Picibanil (lyophilized incubation mixture of Group A Streptococcus pyogenes of human origin) is slowly gaining recognition as its safety and efficacy standards have shown to avoid complications resulting from surgical interventions...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28087897/fgfr1-analyses-in-four-patients-with-hypogonadotropic-hypogonadism-with-split-hand-foot-malformation-implications-for-the-promoter-region
#2
Kohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, Yukihiro Hasegawa, Tatsuya Miyoshi, Tomonobu Hasegawa, Hideaki Miyoshi, Hiraku Kameda, Misuzu Kurokawa Seo, Maki Fukami, Tsutomu Ogata
Heterozygous loss-of-function mutations of FGFR1 cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect [c.289G>A, p.(G97S); and c.2231G>C, p.(R744T)], and case 3 had a splice donor site mutation [c.1663+1G>T]. Notably, case 4 had a maternally inherited 8,312 bp microdeletion that involved non-coding exon 1U and impaired FGFR1 expression...
January 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/28087827/neuropsychological-outcome-following-frontal-lobectomy-for-pharmacoresistant-epilepsy-in-adults
#3
Robyn M Busch, Darlene P Floden, Lisa Ferguson, Shamseldeen Mahmoud, Audrina Mullane, Stephen Jones, Lara Jehi, William Bingaman, Imad M Najm
OBJECTIVE: This retrospective cohort study characterized cognitive and motor outcomes in a large sample of adults who underwent frontal lobe resections for treatment of pharmacoresistant epilepsy. METHODS: Ninety patients who underwent unilateral frontal lobe resection for epilepsy (42 language-dominant hemisphere/48 nondominant hemisphere) between 1989 and 2014 completed comprehensive preoperative and postoperative neuropsychological evaluations that included measures of verbal and nonverbal intellectual functioning, attention/working memory, processing speed, language, executive functioning, verbal and visual memory, and motor functioning...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28087826/comparison-of-brain-mri-findings-with-language-and-motor-function-in-the-dystroglycanopathies
#4
Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Anne M Wallace, Julia A Collison, M Bridget Zimmerman, William B Dobyns, Katherine D Mathews
OBJECTIVE: To describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function. METHODS: All available brain MRIs done for clinical indications on individuals enrolled in a DG natural history study (NCT00313677) were reviewed. Reports were reviewed when MRI was not available. MRIs were categorized as follows: (1) cortical, brainstem, and cerebellar malformations; (2) cortical and cerebellar malformations; or (3) normal...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#5
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#6
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28087565/perturbation-of-retinoid-homeostasis-increases-malformation-risk-in-embryos-exposed-to-pregestational-diabetes
#7
Leo M Y Lee, Maran B W Leung, Rachel C Y Kwok, Yun-Chung Leung, Chi-Chiu Wang, Peter J McCaffery, Andrew J Copp, Alisa S W Shum
Pregestational diabetes is highly associated with increased risk of birth defects. However, factors that can increase or reduce expressivity and penetrance of malformations in diabetic pregnancies remain poorly identified. All-trans retinoic acid (RA) plays crucial roles in embryogenesis. Here, we find that Cyp26a1, which encodes a key enzyme for catabolic inactivation of RA required for tight control of local RA concentrations, is significantly down-regulated in embryos of diabetic mice. Embryonic tissues expressing Cyp26a1 show reduced efficiency of RA clearance...
January 13, 2017: Diabetes
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#8
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28087231/psychosocial-outcome-in-adult-men-born-with-hypospadias
#9
L Örtqvist, M Andersson, A Strandqvist, A Nordenström, L Frisén, G Holmdahl, A Nordenskjöld
INTRODUCTION: Hypospadias, which is a surgically treated congenital malformation of the male urethra, may have a negative impact on quality of life. This aspect has previously been subject to limited research. This study examined the long-term psychosocial outcome of a large cohort of adult males born with hypospadias. OBJECTIVE: The purpose of this case-control study was to assess a possible negative influence on the psychosocial outcome in adult males with hypospadias...
September 9, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28087183/co-expression-of-tissue-factor-and-il-6-in-immature-endothelial-cells-of-cerebral-cavernous-malformations
#10
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Hirofumi Ohnishi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Thirteen cases of operative specimens of sporadic CCMs were included in this study. The expression of messenger RNA of TF and IL-6 was assayed and the association with clinical factors was investigated...
January 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28087093/audiologic-and-radiologic-findings-in-cochlear-hypoplasia
#11
Betul Cicek Cinar, Merve Ozbal Batuk, Emel Tahir, Gonca Sennaroglu, Levent Sennaroglu
OBJECTIVE: The aim of the current study is to evaluate audiologic and radiologic findings of cochlear hypoplasia which is a subgroup of inner ear malformations. METHODS: This study was a prospective clinical study and based on voluntary participation from cases with cochlear hypoplasia diagnosis. The study was conducted at Hacettepe University, Department of Otolaryngology, Head and Neck Surgery and Department of Audiology. Subjects were selected from an inner ear malformations database...
January 10, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28087081/-retinal-arteriovenous-malformation
#12
N Stolowy, A Comet, D Denis, F Matonti
No abstract text is available yet for this article.
January 10, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#13
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28081578/birth-prevalence-of-anorectal-malformations-for-the-western-cape-province-south-africa-2005-to-2012
#14
Andre Theron, Alp Numanoglu
Introduction Anorectal malformations (ARMs) are a major birth anomaly worldwide. South Africa has ethnically and geologically diverse populations. A recent publication indicated an increased birth prevalence of ARMs in the Witwatersrand referral area between 2005 and 2010. The purpose of this study was to determine the birth prevalence of ARM and its various subtypes in the Western Cape referral district over an 8-year period. Methods For an 8-year period from January 1, 2005, to December 31, 2012; retrospective data were collected from the Pediatric Surgical Departments of Red Cross War Memorial Children's Hospital, Tygerberg Children's Hospital, as well as the private sector health registries...
January 12, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28079942/treatment-of-capillary-malformation-using-topical-timolol-combined-with-585-nm-pulsed-dye-laser-a-prospective-randomized-split-lesion-study
#15
Sang-Jin Cheon, Woo-Haing Shim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Capillary malformation (CM) is a congenital vascular malformation characterized by the dilation of superficial dermal blood vessels.(1)  Currently, pulsed dye laser (PDL) is considered the gold standard for the treatment of CM.(1)  However, its use results in incomplete clearance despite multiple sessions and relapses during long-term follow-up.(1)  Alternative methods are needed to achieve improved therapeutic results. This article is protected by copyright. All rights reserved.
January 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28079822/successfully-treated-congenital-cystic-adenomatoid-malformation-by-open-fetal-surgery-a-care-compliant-case-report-of-a-5-year-follow-up-and-review-of-the-literature
#16
Dazhi Fan, Shuzhen Wu, Rui Wang, Yi Huang, Yao Fu, Wen Ai, Meng Zeng, Xiaoling Guo, Zhengping Liu
BACKGROUND: Congenital cystic adenomatoid malformation (CCAM) is a rare hamartomatous cystic lesion. Open fetal surgery currently provides a potential therapeutic option for management of a fetus with CCAM diagnosis. CASE SUMMARY: A 22-year-old G2P0 woman presented at (Equation is included in full-text article.)weeks' gestation for evaluation of a fetus with a left lung lesion and diagnosed as CCAM at (Equation is included in full-text article.)weeks' gestation...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079116/katanin-p80-numa-and-cytoplasmic-dynein-cooperate-to-control-microtubule-dynamics
#17
Mingyue Jin, Oz Pomp, Tomoyasu Shinoda, Shiori Toba, Takayuki Torisawa, Ken'ya Furuta, Kazuhiro Oiwa, Takuo Yasunaga, Daiju Kitagawa, Shigeru Matsumura, Takaki Miyata, Thong Teck Tan, Bruno Reversade, Shinji Hirotsune
Human mutations in KATNB1 (p80) cause severe congenital cortical malformations, which encompass the clinical features of both microcephaly and lissencephaly. Although p80 plays critical roles during brain development, the underlying mechanisms remain predominately unknown. Here, we demonstrate that p80 regulates microtubule (MT) remodeling in combination with NuMA (nuclear mitotic apparatus protein) and cytoplasmic dynein. We show that p80 shuttles between the nucleus and spindle pole in synchrony with the cell cycle...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078819/live-donor-liver-transplantation-for-a-child-presented-with-severe-hepatopulmonary-syndrome-and-nodular-liver-lesions-due-to-abernethy-malformation
#18
Cahit Yilmaz, Zafer Onen, Rasim Farajov, Onur S Duygu, Latife Doganay, Alper Yuksel, Mehmet Alper, Murat Zeytunlu, Cigdem Arikan, Murat Kilic
A 15-year-old boy first presented with severe lung lesions and hypoxia and he was considered as a lung transplant candidate. Upon evaluation, hepatopulmonary syndrome, multiple nodular liver lesions, and Abernethy type 1b malformation were diagnosed. The patient underwent successful right lobe live donor liver transplantation, and all of the symptoms disappeared soon after the transplant. He is currently alive and well with excellent liver and lung functions 4 years after surgery.
January 12, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28077667/the-role-of-the-cerebellum-in-high-stages-of-motor-planning-hierarchy
#19
Luca Casartelli, Alessandra Federici, Ambra Cesareo, Emilia Biffi, Giulia Valtorta, Massimo Molteni, Luca Ronconi, Renato Borgatti
Motor planning is not a monolithic process, and distinct stages of motor planning are responsible for encoding different levels of abstractness. However, how these distinct components are mapped into different neural substrates remains an open question. We studied one of these high-level motor planning components, defined as second-order motor planning, in a patient (R.G.) with an extremely rare case of cerebellar agenesis but without any other cortical malformations. Second-order motor planning dictates that when two acts have to be performed sequentially, planning of the second act can influence the execution of the first...
January 11, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28077186/antenatal-diagnosis-of-double-outlet-left-atrium
#20
Guy Vaksmann, Ivan Bouzguenda, Lucile Houyel
In this study, we describe a fetus with double-outlet atrium associated with complex arrangement of the ventricles and the great vessels. Various presentations of this malformation not described antenatally are discussed.
January 12, 2017: Cardiology in the Young
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