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https://read.qxmd.com/read/30772952/circle-of-willis-variations-in-migraine-patients-with-ischemic-stroke
#1
Arend M Hamming, Marianne A A van Walderveen, Inge A Mulder, Irene C van der Schaaf, L Jaap Kappelle, Birgitta K Velthuis, Michel D Ferrari, Gisela M Terwindt, Marieke C Visser, Wouter Schonewille, Ale Algra, Marieke J H Wermer
OBJECTIVES: Migraine is a risk factor for stroke, which might be explained by a higher prevalence in anatomical variants in the circle of Willis (CoW). Here, we compared the presence of CoW variants in patients with stroke with and without migraine. MATERIALS AND METHODS: Participants were recruited from the prospective Dutch acute Stroke Study. All participants underwent CT angiography on admission. Lifetime migraine history was assessed with a screening questionnaire and confirmed by an interview based on International Classification of Headache Disorders criteria...
February 16, 2019: Brain and Behavior
https://read.qxmd.com/read/30772145/in-utero-intervention-for-severe-congenital-heart-disease
#2
REVIEW
Helena M Gardiner
The aim of foetal cardiac therapy is to treat an abnormality at the developmental stage so that the process of cardiac growth, which is complex and relies on the volume and direction of circulating blood as well as genetic determinants, can continue. In reality, most cardiac interventions are palliative; hence, major abnormalities are still present at birth. Nevertheless, tangible benefits following successful foetal intervention include improved haemodynamics and reduction in secondary damage leading to better postnatal outcomes...
January 17, 2019: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://read.qxmd.com/read/30771115/-18-f-flt-pet-mri-for-bone-marrow-failure-syndrome-initial-experience
#3
Tetsuya Tsujikawa, Toshiki Tasaki, Naoko Hosono, Tetsuya Mori, Akira Makino, Yasushi Kiyono, Paolo Zanotti-Fregonara, Takahiro Yamauchi, Hidehiko Okazawa
BACKGROUND: Bone marrow failure syndrome (BMFS) is a heterogeneous group of disorders associated with single- or multiple-lineage cytopenia and failure of normal hematopoiesis. We assessed the feasibility of integrated PET/MRI with 3'-deoxy-3'-18 F-fluorothymidine (18 F-FLT) to assess the pathophysiology of whole-body bone marrow for the diagnosis and monitoring of BMFS. Twenty-five consecutive patients with BMFS underwent a pre-treatment 18 F-FLT PET/MRI scan. They included 7 patients with aplastic anemia (AA), 16 with myelodysplastic syndrome (MDS), and 2 with myeloproliferative neoplasms (MPNs), primary myelofibrosis (MF), and secondary [post-essential thrombocythemia (post-ET)] MF...
February 15, 2019: EJNMMI Research
https://read.qxmd.com/read/30768759/cnot2-as-the-critical-gene-for-phenotypes-of-12q15-microdeletion-syndrome
#4
Tomoko Uehara, Toshiki Takenouchi, Yu Yamaguchi, Yumi Daimon, Hisato Suzuki, Yuri Sakaguchi, Kenjiro Kosaki
Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 microdeletion syndrome remain unclear. Recently, the smallest region of overlap in 16 previously reported patients was used to define three candidate genes for the 12q15 microdeletion syndrome: CNOT2, KCNMB4, and PTPRB. Among these three candidate genes, CNOT2 maintains the structural integrity of the carbon catabolite repressor 4 (CCR4)-negative on TATA (NOT) complex, which plays a key role in regulating global gene expression, and is essential for the enzymatic activity of the CCR4-NOT complex...
February 15, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30758241/three-dimensional-finite-element-analysis-of-the-cochlear-hypoplasia
#5
Wenjuan Yao, Jicheng Zhong, Maoli Duan
OBJECTIVES: Based on CT scan images of healthy human ear, the effects of cochlear hypoplasia on auditory functions was studied. METHODS: Three-dimensional nonlinear finite-element numerical model was developed and used to predict frequency responses of hypoplastic cochleae. The numerical model was validated by comparing the modeling results to reported experimental data. RESULTS: The cochlear hypoplasia compromises sound conduction of middle ear and results in significant decrease of vibration displacement amplitude of stapes foot-plate at frequencies 100 ∼ 1200 Hz with a maximal decrease of 9...
November 2018: Acta Oto-laryngologica
https://read.qxmd.com/read/30756368/prenatally-diagnosed-foramen-ovale-restriction-in-fetuses-with-hypoplastic-left-heart-syndrome-may-be-a-predictor-of-longer-hospitalization-but-not-of-a-need-for-an-urgent-rashkind-procedure
#6
Lukasz Sokolowski, Maria Respondek-Liberska, Marek Pietryga, Maciej Slodki
OBJECTIVES: This prospective study aimed to assess the effectiveness of foramen ovale examination in classifying prenatal hypoplastic left heart syndrome (HLHS) in accordance with the new classification groupings for congenital heart defects. MATERIAL AND METHODS: The analysis included 145 fetuses with HLHS, diagnosed and monitored between 2008 and 2015 in Prenatal Cardiology Department at Polish Mother's Memorial Hospital Research Institute in Lodz. The main criteria for classifying our study population into three sub-groups was was the presence of a foramen ovale restriction, which we diagnosed by evaluating the diameter and blood flow through the foramen ovale...
2019: Ginekologia Polska
https://read.qxmd.com/read/30754985/a-complex-case-of-aortic-arch-interruption-and-hypoplastic-descending-aorta
#7
Joaquín Pérez-Andreu, Joaquín Fernández-Doblas, Gemma Giralt García, Ferran Roses, Raúl F Abella
The case of a newborn with a post-ductal interrupted aortic arch combined with severe hypoplasia of the thoracic descending aorta and intracardiac defects is described. Extraanatomic bypass surgery was performed in the neonatal period to connect the ascending and descending parts of the aorta. Closure of a ventricular septal defect and excision of hypertrophied bands in the right ventricle with subsequent ventriculotomy were delayed beyond neonatal age.
February 12, 2019: Asian Cardiovascular & Thoracic Annals
https://read.qxmd.com/read/30740320/aortic-dilatation-in-complex-congenital-heart-disease
#8
REVIEW
Koichiro Niwa
A bicuspid aortic valve and/or coarctation of the aorta (COA) are often associated with dilatation of the ascending aorta and para-coarctation. Congenital heart diseases (CHD), such as truncus arteriosus, transposition of the great arteries (TGA), tetralogy of Fallot (TOF), hypoplastic left heart syndrome (HLHS), single ventricle with pulmonary stenosis/atresia and the Fontan procedure, are also associated with aortic root dilatation, aneurysm and rarely, dissection, which can be fatal and require aortic valve and root surgery...
December 2018: Cardiovascular Diagnosis and Therapy
https://read.qxmd.com/read/30737110/hybrid-procedure-with-pulsatile-ventricular-assist-device-for-hypoplastic-left-heart-syndrome-awaiting-transplantation
#9
Joseph Philip, Karl Reyes, Mohammed Ebraheem, Dipankar Gupta, James C Fudge, Mark S Bleiweis
No abstract text is available yet for this article.
December 21, 2018: Journal of Thoracic and Cardiovascular Surgery
https://read.qxmd.com/read/30735726/meis2-gene-is-responsible-for-intellectual-disability-cardiac-defects-and-a-distinct-facial-phenotype
#10
Annarita Giliberti, Aurora Currò, Filomena Tiziana Papa, Elisa Frullanti, Francesca Ariani, Coriolani Gianni, Salvatore Grosso, Alessandra Renieri, Francesca Mari
Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac defects. Here, we present a male patient, aged 10, with cardiac defects, intellectual disability, facial dysmorphisms and gastroesophageal reflux. Whole exome sequencing revealed a novel de novo nonsense mutation in the MEIS2 gene. This patient represents another reported case with a de novo MEIS2 point mutation and helps to characterize a distinct facial phenotype consisting in low anterior hairline, thin eyebrows, anteverted nares, hypoplastic alae nasi, and M-shape upper lip...
February 5, 2019: European Journal of Medical Genetics
https://read.qxmd.com/read/30733468/exocrine-tissue-driven-tff2-prevents-apoptotic-cell-death-of-endocrine-lineage-during-pancreas-organogenesis
#11
Koji Hirata, Sota Kodama, Yasuhiro Nakano, Yasuko Minaki-Nakagawa, Yoshiki Aoyama, Morito Sakikubo, Toshihiko Goto, Masahiro Yoshida, Toshihiko Masui, Takuya Yamamoto, Shinji Uemoto, Yoshiya Kawaguchi
During embryogenesis, exocrine and endocrine pancreatic tissues are formed in distinct regions within the branched ductal structure in mice. We previously reported that exocrine-specific inactivation of Pdx1 by Elastase-Cre caused not only hypoplastic exocrine formation but also substantial endocrine defects resulting in diabetic phenotype, indicating the existence of an exocrine-driven factor(s) that regulates proper endocrine development. In this study, we identified Trefoil Factor 2 (TFF2) as an exocrine gene expressed from embryonic day 16...
February 7, 2019: Scientific Reports
https://read.qxmd.com/read/30720842/laron-syndrome-related-to-homozygous-growth-hormone-receptor-c-784-c-mutation-in-a-patient-with-hypoplastic-pulmonary-arteries
#12
Ayşehan Akinci, Cemşit Karakurt, Vivian Hwa, Ismail Dündar, Emine Çamtosun
Laron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1) deficiency. Cardiac abnormalities, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with Laron syndrome, but cardiac hypertrophy has been observed after IGF1 therapy. In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c...
January 22, 2019: Cardiovascular Journal of Africa
https://read.qxmd.com/read/30719304/congenital-deformation-of-the-posterior-arch-of-the-atlas-subluxation-of-the-atlanto-axial-joint-with-temporary-quadriplegia
#13
Tobias M Ballhause, Mirko Velickovic, Darius M Thiesen, Marc Dreimann
Instabilities of the craniocervical junction can be of rheumatic, traumatic, or congenital origin. The reported patient has a congenital malformation of the cervical spine, which is frequently observed in patients with Klippel-Feil syndrome. Her posterior arch of the atlas (C1) is hypoplastic and a chronic subluxation of the atlanto-axial joint would be possible. Although most common fusions in Klippel-Feil syndrome patients exist at C2/3, the majority of studies about Klippel-Feil syndrome deal with pediatric or adolescent individuals...
2019: SAGE Open Medical Case Reports
https://read.qxmd.com/read/30713588/the-mechanosensitive-ion-channel-trpv4-is-a-regulator-of-lung-development-and-pulmonary-vasculature-stabilization
#14
Joshua T Morgan, Wade G Stewart, Robert A McKee, Jason P Gleghorn
Introduction –: Clinical observations and animal models suggest a critical role for the dynamic regulation of transmural pressure and peristaltic airway smooth muscle contractions for proper lung development. However, it is currently unclear how such mechanical signals are transduced into molecular and transcriptional changes at the cell level. To connect these physical findings to a mechanotransduction mechanism, we identified a known mechanosensor, TRPV4, as a component of this pathway...
October 2018: Cellular and Molecular Bioengineering
https://read.qxmd.com/read/30713384/gall-bladder-activity-on-technetium99m-ethylenedicysteine-renogram-masquerading-as-ectopic-kidney
#15
Sailaja Aka, J Sai Moulika, Vs Krishna Mohan, R Ramya Priya, Ranadheer Manthri, T C Kalawat
99m Tc-EC (Technetium-99m-ethylenedicysteine) is a renal tubular imaging agent introduced as an alternative to 99m Tc-MAG3 (Technetium-99m-mercaptoacetyltriglycine) (1). This radiopharmaceutical can be easily labeled at room temperature and has high radiochemical purity and long stability for at least 8 h. Within 1 h 70% of 99m Tc-EC is excreted in the urine (2). 99m Tc-EC provides the same Scintigraphic information as 99m Tc-MAG3. The Hepato biliary excretion of 99m Tc-EC is very low and usually does not affect image interpretation on routine imaging, the possibility of visualization of the gall bladder should be kept in mind while reporting the 99mTc-EC renogram (1)...
January 2019: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://read.qxmd.com/read/30711131/innovative-2-step-management-strategy-utilizing-exit-procedure-for-a-fetus-with-hypoplastic-left-heart-syndrome-and-intact-atrial-septum
#16
Sameh M Said, Muhammad Yasir Qureshi, Nathaniel W Taggart, Heather N Anderson, Patrick W O'Leary, Frank Cetta, Layan Alrahmani, Shelagh A Cofer, Leal G Segura, Roxann B Pike, Emily E Sharpe, Douglas P Derleth, Michael E Nemergut, Charlotte S Van Dorn, Stephen J Gleich, Carl H Rose, Christopher A Collura, Rodrigo Ruano
Hypoplastic left heart syndrome (HLHS) with intact atrial septum (HLHS-IAS) carries a high risk of mortality and affects about 6% of all patients with HLHS. Fetal interventions, postnatal transcatheter interventions, and postnatal surgical resection have all been used, but the mortality risk continues to be high in this subgroup of patients. We describe a novel, sequential approach to manage HLHS-IAS and progressive fetal hydrops. A 28-year-old, gravida 4 para 2 mother was referred to Mayo Clinic for fetal HLHS...
February 2019: Mayo Clinic Proceedings
https://read.qxmd.com/read/30710256/hypotrichosis-with-cone-rod-dystrophy-in-a-patient-with-cadherin-3-cdh3-mutation
#17
F Nasser, L Mulahasanovic, M Alkhateeb, S Biskup, K Stingl, E Zrenner
PURPOSE: To investigate a very rare case of hypotrichosis with cone-rod dystrophy caused by a P-cadherin CDH3 mutation. METHODS: A 16-year-old Syrian girl was examined at age 9 and 14 years with an ophthalmological examination, fundus imaging, OCT and electrophysiological recordings (ERG and PERG). A disease-targeted gene panel sequencing was performed. RESULTS: Fundus images showed pigmentations at the posterior eye pole to the mid periphery, as well as vessel tortuosity...
February 1, 2019: Documenta Ophthalmologica. Advances in Ophthalmology
https://read.qxmd.com/read/30706883/neu-laxova-syndrome
#18
Tanima Dwivedi, Manasi Gosavi
NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot...
January 2019: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/30702202/intracoronary-recombinant-tissue-plasminogen-activator-in-an-infant-with-hypoplastic-left-heart-syndrome-and-complete-left-main-coronary-artery-thrombosis
#19
Bassel Mohammad Nijres, John H Huntington, Giedrius Baliulis, Joseph J Vettukattil
An infant with hypoplastic left heart syndrome (HLHS) presented with complete heart block and severe myocardial dysfunction requiring ECMO support due to complete left main coronary artery (LMCA) thrombosis. Current guidelines for managing coronary artery thrombosis in infants with single ventricle physiology are inadequate. We describe successful LMCA and branch recanalization via intra coronary infusion of recombinant tissue plasminogen activator and discuss management of acute coronary thrombosis in children with single ventricle physiology...
January 31, 2019: Catheterization and Cardiovascular Interventions
https://read.qxmd.com/read/30698130/complete-tracheal-rings-and-hypoplastic-left-heart-variant-a-rare-and-fatal-association
#20
Neha Bansal, Deemah R Mahadin, Sanjeev Aggarwal
Congenital complete tracheal rings are usually associated with pulmonary slings. We report a rare association of congenital complete tracheal rings with hypoplastic left heart variant. A term infant with diagnosis of a mildly hypoplastic mitral valve, unicuspid aortic valve, and moderately hypoplastic aortic arch with severe coarctation underwent a hybrid procedure initially. Upon failing extubation attempts, complete tracheal rings were seen on direct laryngoscopy. The combination of the lesions resulted in a poor outcome...
January 30, 2019: Cardiology in the Young
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