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https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#1
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28331020/isolated-lower-limb-hypoplasia-secondary-to-congenital-varicella-syndrome-a-rare-occurrence-and-management-of-its-complications
#2
Sneha Mehta, Willem Schenk, Stephen Kirker, Amit Atrey
Isolated lower limb hypoplasia is a rare consequence of maternal congenital varicella syndrome (CVS). The hypoplastic limb is susceptible to multiple injuries, including fractures, especially if there is associated muscle weakness and lack of sensation. We describe a unique index case of a woman aged 26 years with a background of CVS who presented with a distal femur fracture following a fall onto her insensate, hypoplastic right leg. This report highlights the complexities involved in the diagnosis and management of fractures in patients with an anaesthetic limb, and in particular describes limb amputation as a successful treatment modality for distal femur fractures...
March 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28329999/bilateral-cystic-coloboma-with-microphtalmos-and-eyelid-agenesis-us-and-mri-findings
#3
Youssef Omor, Benjamin Dhaene, Veronique Toppet, Marie Cassart, Patrice Jissendi-Tchofo
INTRODUCTION: The combination of bilateral microphthalmos, cystic coloboma and eyelid agenesis is rare. The definite diagnosis of this malformation is established by fundoscopic examination and confirmed by imaging modalities such as ultrasonography (US) and magnetic resonance imaging (MRI). This disorder may be associated with specific chromosomal abnormalities. CASE REPORT: A 1-week-old male newborn was referred for bilateral eyelid agenesis. He was born at term by caesarean for foetal distress, after an uneventful gestation...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28329264/bow-hunter-syndrome-elicited-by-vertebral-arterial-occlusion-after-total-arch-replacement
#4
Hiroto Kitahara, Tomohiro Takeda, Kazumi Akasaka, Hiroyuki Kamiya
An 83-year-old man with arch aneurysm underwent total arch replacement with frozen elephant trunk and extra-anatomical left subclavian artery bypass. One year later, he felt dizziness associated with head rotation. The hypoplastic left vertebral artery was occluded by a thrombus extending from the left subclavian artery ligation site, and the dynamic stenosis of right vertebral artery by head rotation induced dizziness. He was diagnosed with Bow Hunter syndrome. Vertebral artery hypoplasia represents a possible cause of this rare complication...
January 31, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28329229/isolated-severe-leftward-displacement-of-the-septum-primum-anatomic-and-3d-echocardiographic-findings-and-surgical-repair
#5
Fabio Cuttone, Khaled Hadeed, François Lacour-Gayet, Hugues Lucron, Sebastien Hascoet, Philippe Acar, Bertrand Leobon, Richard Van Praagh
OBJECTIVES: Leftward displacement of the septum primum is usually described as associated with hypoplastic left heart syndrome or visceral heterotaxy. This rare malformation results in partially or totally anomalous pulmonary venous drainage with a normal connection of the pulmonary veins to the left atrium, depending on the degree of septal shift. We report the 3D echocardiographic and anatomic findings as well as the surgical repair in a series of isolated severe leftward displacement of the septum primum, responsible for totally anomalous pulmonary venous drainage...
February 16, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28329111/hypoplastic-left-heart-syndrome-a-novel-surgical-strategy-for-small-volume-centres-%C3%A2
#6
Margaux Pontailler, Régis Gaudin, Marien Lenoir, Ayman Haydar, Diala Kraiche, Damien Bonnet, Pascal Vouhé, Olivier Raisky
OBJECTIVES: We describe in a prospective study, a novel surgical technique for the management of hypoplastic left heart syndrome inspired by the hybrid Norwood approach. METHODS: This new neonatal palliation comprises replacement of the patent ductus arteriosus (PDA) and aortic arch plasty with a pulmonary homograft associated with the banding of both pulmonary arteries and atrial septectomy, under cardiopulmonary bypass without aortic clamping and cardioplegia...
February 17, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28323386/the-association-of-maternal-lymphatic-markers-and-critical-congenital-heart-defects-in-the-fetus-a-population-based-case-control-study
#7
Martina A Steurer, Mary E Norton, Rebecca J Baer, Gary M Shaw, Sheila Keating, Anita J Moon-Grady, Christina D Chambers, Laura L Jelliffe-Pawlowski
The objective ot this study was to investigate whether lymphatic markers measured in women during the second trimester are associated with critical congenital heart defects (CCHDs) in offspring. This is a retrospective cohort study of pregnant women who participated in the California Prenatal Screening Program. CCHD data in the offspring was captured by linking birth certificate data with hospital patient discharge records. Second trimester samples were assayed for vascular endothelial growth factor (VEGF), platelet derived growth factor (PDGF) AA/BB, and PDGF AB...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319210/oculo-dento-digital-dysplasia-oddd-due-to-a-gja1-mutation-report-of-a-case-with-emphasis-on-dental-manifestations
#8
Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George A Tanteles, Maria A Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1...
March 20, 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28315472/complex-postaxial-polydactyly-types-a-and-b-with-camptodactyly-hypoplastic-third-toe-zygodactyly-and-other-digit-anomalies-caused-by-a-novel-gli3-mutation
#9
Sara Mumtaz, Esra Yildiz, Karmoon Lal, Aslıhan Tolun, Sajid Malik
Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial and postaxial subtypes and subtypes A and B. Most polydactyly entities are associated with GLI3 mutation. We report on 10 affected individuals from a large Pakistani kindred initially evaluated as a possible new condition. The phenotype is postaxial polydactyly types A and B associated with zygodactyly, postaxial webbing of toes and additional features not previously reported for isolated polydactyly such as camptodactyly, hypoplasia of third toe, and wide space between hallux and second toe...
March 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28315143/unclassified-mr-arthrography-pattern-evaluation-in-patients-with-episodes-of-recurrent-antero-inferior-shoulder-dislocation
#10
Luca Saba, Massimo De Filippo
PURPOSE: To evaluate prospectively the incidence of unclassifiable MR arthrography patterns of glenoid anterior-inferior labrum lesions, in patients with at least two episodes of recurrent antero-inferior shoulder dislocation. MATERIALS AND METHODS: The MR shoulder Arthrography images of 36 patients, with at least two episodes of recurrent antero-inferior dislocation, were prospectively evaluated, during a period between November 2015 and Mai 2016. All patients were contacted after 6 months of the MR arthrography to evaluate their course of treatment...
March 17, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#11
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#12
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28295540/v-atpases-containing-a3-subunit-play-a-direct-role-in-enamel-development-in-mice
#13
Lisa Johnson, Bernhard Ganss, Andrew Wang, Ralph A Zirngibl, Danielle E Johnson, Celeste Owen, Grace Bradley, Irina Voronov
Vacuolar H(+) -ATPases (V-ATPases) are ubiquitous multisubunit proton pumps responsible for organellar pH maintenance. Mutations in the a3 subunit of V-ATPases cause autosomal recessive osteopetrosis; a rare disease due to impaired bone resorption. Patients with osteopetrosis also display dental anomalies, such as enamel defects; however, it is not clear whether these enamel abnormalities are a direct consequence of the a3 mutations. We investigated enamel mineralization, spatiotemporal expression of enamel matrix proteins and the a3 protein during tooth development using an osteopetrotic mouse model with a R740S point mutation in the V-ATPase a3 subunit...
March 11, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28293976/evolution-of-hybrid-interventions-for-congenital-heart-disease
#14
Hitesh Agrawal, Wail Alkashkari, Damien Kenny
Surgical and transcatheter interventions have seen a tremendous evolution in last three decades. Hybrid technology combines the achievements of both disciplines to bring substantial hemodynamic benefit to patients with congenital heart disease (CHD) in a minimally invasive manner. This collaboration between surgeons and interventionalists will continue to grow as the technology evolves to meet the demands of CHD patients, potentially avoiding cardiopulmonary bypass and vascular access complications as well as optimizing immediate technical outcomes with exit angiography...
March 15, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28291606/geometry-and-growth-of-the-reconstructed-aorta-in-patients-with-hypoplastic-left-heart-syndrome-and-variants
#15
Christoph Haller, Devin Chetan, Arezou Saedi, Rachel Parker, Glen S Van Arsdell, Osami Honjo
OBJECTIVE: The interdigitating technique in aortic arch reconstruction in hypoplastic left heart syndrome and variants (HLHS) reduces the recoarctation rate. Little is known on aortic arch growth characteristics and resulting clinical impact. METHODS: A total of 139 patients with HLHS underwent staged palliation between 2007 and 2014; 73 patients underwent arch reconstruction. Dimensions of ascending aorta, transverse arch, interdigitating anastomosis, and descending aorta in pre-stage II and pre-Fontan angiograms were measured...
February 14, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28287055/congenital-pulmonary-lymphangiectasia-and-early-mortality-after-stage-1-reconstruction-procedures
#16
Jeremy L Herrmann, Mallory L Irons, Christopher E Mascio, Jack Rychik, Thomas L Spray, J William Gaynor, Jennifer E Pogoriler
OBJECTIVES: Pulmonary lymphangiectasia associated with hypoplastic left heart syndrome with an intact or restrictive atrial septum may result from increased left atrial pressure, and is associated with worse outcomes following staged reconstruction due to lung dysfunction and significant hypoxaemia. Our objective was to characterise the incidence of pulmonary lymphangiectasia in cases of early mortality following stage 1 reconstructions. METHODS: An institutional cardiac surgical database was retrospectively searched for patients who died within 30 days following a stage 1 reconstruction between 1 January, 1984 and 31 December, 2013...
March 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28283722/fanconi-anemia-correlating-central-nervous-system-malformations-and-genetic-complementation-groups
#17
Benjamin A Johnson-Tesch, Rakhee S Gawande, Lei Zhang, Margaret L MacMillan, David R Nascene
BACKGROUND: Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. OBJECTIVE: To characterize the impact of genetic complementation groups on central nervous system anatomy. MATERIALS AND METHODS: Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11...
March 10, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28281726/anastomotic-loop-between-common-hepatic-artery-and-gastroduodenal-artery-in-coexistence-with-an-aberrant-right-hepatic-artery
#18
Konstantinos Natsis, Maria Piagkou, Theodosis Stamatopoulos, Ioannis Spyridakis, Stylianos Apostolidis
Anatomical variations of the hepatic arteries are not uncommon. The anomalous hepatic arterial supply is of paramount importance in hepatobiliary, pancreatic or liver transplantation and in laparoscopic surgery. We describe an unusual case of a 66-year-old Greek male cadaver, where a rare anastomosis (in the form of an enlarged arterial loop, 4.84 mm in diameter) between the common hepatic artery (6.42 mm) and the gastroduodenal artery (GDA) (4.82 mm) coexisted with an aberrant right hepatic artery (ARHA) (6...
March 10, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28275592/model-of-human-fetal-growth-in-hypoplastic-left-heart-syndrome-reduced-ventricular-growth-due-to-decreased-ventricular-filling-and-altered-shape
#19
Sukriti Dewan, Adarsh Krishnamurthy, Devleena Kole, Giulia Conca, Roy Kerckhoffs, Michael D Puchalski, Jeffrey H Omens, Heather Sun, Vishal Nigam, Andrew D McCulloch
INTRODUCTION: Hypoplastic left heart syndrome (HLHS) is a congenital condition with an underdeveloped left ventricle (LV) that provides inadequate systemic blood flow postnatally. The development of HLHS is postulated to be due to altered biomechanical stimuli during gestation. Predicting LV size at birth using mid-gestation fetal echocardiography is a clinical challenge critical to prognostic counseling. HYPOTHESIS: We hypothesized that decreased ventricular filling in utero due to mitral stenosis may reduce LV growth in the fetal heart via mechanical growth signaling...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28274521/cavopulmonary-anastomosis-during-same-hospitalization-as-stage-1-norwood-hybrid-palliative-surgery
#20
Sachin D Tadphale, Xinyu Tang, Nahed O ElHassan, Brandon Beam, Parthak Prodhan
BACKGROUND: Limited literature has examined characteristics of infants with hypoplastic left heart syndrome (HLHS) who remain hospitalized during the interstage period. We described their epidemiologic characteristics, in-hospital outcomes, and identified risk factors that predict the need for superior cavopulmonary anastomosis (SCPA) during the same hospitalization. METHODS: This retrospective multicenter database analysis included infants with HLHS who underwent stage 1 palliation from 2004 through 2013...
March 5, 2017: Annals of Thoracic Surgery
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