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https://www.readbyqxmd.com/read/29136354/-minimal-holoprosencephaly-in-a-14q-deletion-syndrome-patient
#1
Elvio Della Giustina, Alessandro Iodice, Carlotta Spagnoli, Simona Giovannini, Daniele Frattini, Carlo Fusco, Giuseppe Gobbi, Marcella Zollino, Giovanni Neri
We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29135495/prenatal-microrna-mir-200b-therapy-improves-nitrofen-induced-pulmonary-hypoplasia-associated-with-congenital-diaphragmatic-hernia
#2
Naghmeh Khoshgoo, Ramin Kholdebarin, Patricia Pereira-Terra, Thomas H Mahood, Landon Falk, Chelsea A Day, Barbara M Iwasiow, Fuqin Zhu, Drew Mulhall, Carly Fraser, Jorge Correia-Pinto, Richard Keijzer
OBJECTIVE: We aimed to evaluate the use of miR-200b as a prenatal transplacental therapy in the nitrofen rat model of abnormal lung development and congenital diaphragmatic hernia (CDH). BACKGROUND: Pulmonary hypoplasia (PH) and pulmonary hypertension determine mortality and morbidity in CDH babies. There is no safe medical prenatal treatment available. We previously discovered that higher miR-200b is associated with better survival in CDH babies. Here, we investigate the role of miR-200b in the nitrofen rat model of PH and CDH and evaluate its use as an in vivo prenatal therapy...
November 13, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/29118890/a-novel-technique-for-the-administration-of-sub-ambient-oxygen-in-the-operating-room
#3
Asad A Khawaja, Marco Corridore, Joseph D Tobias
Hypoplastic left heart syndrome (HLHS) is a common form of congenital heart disease with abnormal development of left-sided structures of the heart. As excessive pulmonary blood flow is common prior to palliative surgical procedures, therapeutic maneuvers may be required to decrease pulmonary blood flow and augment systemic cardiac output. Respiratory manipulations to optimize the ratio of pulmonary to systemic blood flow may include techniques to induce hypercarbia or the delivery of sub-ambient concentrations of oxygen (FiO2 less than 0...
October 2017: Cardiology Research
https://www.readbyqxmd.com/read/29117835/spontaneous-rupture-of-the-extensor-pollicis-longus-with-the-extensor-pollicis-brevis-deformity
#4
Kazuo Ikeda, Naoki Osamura, Kaoru Tada
This paper examines three cases of spontaneous ruptures of the extensor pollicis longus (EPL) with the extensor pollicis brevis (EPB) deformity. The patients ranged from 39 to 71 years old. Non-dominant hands were involved in all three cases. There were no trauma nor pathological cause of EPL ruptures. A tendon transfer using the extensor indicis proprius was performed in each case. Intraoperative findings showed hypoplastic EPB in one case and EPB defects in two cases. A weak or defective EPB puts an excessive load on the EPL, which might be one of the causes of spontaneous EPL rupture...
December 2017: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/29114930/pediatric-diamond-blackfan-anemia-in-the-netherlands-an-overview-of-clinical-characteristics-and-underlying-molecular-defects
#5
B van Dooijeweert, C H van Ommen, F J Smiers, R Y J Tamminga, M W Te Loo, A E Donker, M Peters, B Granzen, J J P Gille, M B Bierings, A W MacInnes, M Bartels
INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries. OBJECTIVES: To create an overview of the pediatric DBA population in the Netherlands. METHODS: Forty-three patients diagnosed with DBA from all Dutch university pediatric hospitals were included in this study and their clinical and genetic characteristics were collected from patient records...
November 7, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29111297/mid-term-outcomes-of-repair-of-coarctation-of-aorta-with-hypoplastic-arch-extended-end-to-side-anastomosis-technique
#6
Eung Re Kim, Woong-Han Kim, Jinhae Nam, Kwangho Choi, Woo Sung Jang, Jae Gun Kwak
OBJECTIVE: The optimal surgical repair technique for coarctation associated with aortic arch hypoplasia (CoA/AAH) in neonates and infants is controversial. This study evaluates our current strategy utilizing extended end-to-side anastomosis (EESA) under selective cerebral and myocardial perfusion (SCMP) in treating this group of patients. METHODS: Through a retrospective review, we analyzed the outcome of 87 infants who underwent surgical repair of CoA/AAH from January 2004 to December 2015...
October 27, 2017: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29103889/minimally-invasive-hallux-interphalangeal-joint-arthrodesis-for-hallux-varus-in-pfeiffer-syndrome-a-case-report
#7
Miguel Flora, Pedro Diniz, Ana Luisa Neto, Nelson Teixeira, Paulo Carvalho, Francisco Guerra Pinto
Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability...
November 3, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29103243/postmortem-computer-tomography-appearance-of-the-aortic-arch-in-children-what-is-considered-normal
#8
Natalia Simanovsky, Nurith Hiller, Maxim Timofeev, Eli M Eisenshtein, Zeev Perles, Sigal Tal
BACKGROUND: Virtual autopsies by computer tomography (CT) or magnetic resonance imaging can be valuable in cases of unexplained infant death. The radiologist must be familiar with the normal appearance of all the segments of the thoracic aorta in normal and deceased children. A thorough review of the literature revealed no prior articles describing CT changes in the ascending aorta or the aortic arch in pediatric virtual autopsies. OBJECTIVES: To compare the CT appearance of the thoracic aorta in deceased children and in those younger than 3 years of age...
October 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29097057/association-between-transverse-sinus-hypoplasia-and-cerebral-venous-thrombosis-a-case-control-study
#9
Antonio Arauz, Monica Chavarria-Medina, Hernán M Patiño-Rodriguez, Elizabeth Varela, Fabiola Serrano, Mayra Becerril, Miguel A Barboza
BACKGROUND: Hypoplasia of the transverse sinus (TS) is a common anatomical variation. However, the relationship between TS hypoplasia and venous thrombosis has not been studied. We analyzed the hypothesis that TS hypoplasia is a predisposing factor for ipsilateral thrombosis. MATERIALS AND METHODS: We retrospectively evaluated 20 confirmed cases with isolated TS thrombosis and 43 age- and sex-matched controls. TS thrombosis and hypoplasia were diagnosed using both computed tomography and magnetic resonance venography...
October 30, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29096870/hypoplastic-left-heart-syndrome-is-not-a-predictor-of-worse-intermediate-mortality-post-fontan
#10
Billie-Jean Martin, Kandice Mah, Luke Eckersley, Joyce Harder, Charissa Pockett, Daryl Schantz, John Dyck, Mohammed Al Aklabi, Ivan M Rebeyka, David B Ross
BACKGROUND: An increasing proportion of those living with single ventricle physiology have hypoplastic left heart syndrome (HLHS). Our objective was to assess the association between HLHS and outcomes post Fontan operation. METHODS: All pediatric patients who underwent a Fontan procedure at the University of Alberta between 1996 and 2016 were included. Follow-up clinical data collected included early and late surgical or catheter reintervention, echocardiography, and long-term transplant-free survival...
October 30, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29091783/neurodevelopmental-outcome-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#11
Lise Folliot-Le Doussal, Alexandra Chadie, Marie Brasseur-Daudruy, Eric Verspyck, Pascale Saugier-Veber, Stéphane Marret
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. OBJECTIVE: To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC...
October 29, 2017: Early Human Development
https://www.readbyqxmd.com/read/29091254/evaluation-of-morphologic-and-morphometric-characteristic-of-foramen-transversarium-on-3-dimensional-multidetector-computed-tomography-angiography-mdcta
#12
Ayfer Metin Tellioglu, Yasemin Durum, Mustafa Gok, Ayse Gizem Polat, Can Zafer Karaman, Sacide Karakas
AIM: The aim of this study was to investigate the size and variations of the foramen transversarium (TF). In addition, to study the anatomical variations of vertebral artery entering the transverse foramen of the cervical vertebrae. MATERIAL AND METHODS: The images of 141 (90 males, 51 females) patients aged between 18-79 years (mean: 52.7 years) were analyzed. As a result, 987 cervical spines (C1-C7) and 1974 foramen transversariums were individually evaluated...
September 26, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/29081324/coarctation-of-the-aorta-stenting-via-glidesheath-slender-in-a-newborn-with-recoarctation-early-after-a-norwood-operation
#13
Katarzyna Gendera, Julie Cleuziou, Daniel Tanase
In this article, we report on a newborn with hypoplastic left heart syndrome in whom recoarctation of the aorta was treated with a bare metal stent (Cook Formula 414 Stent) in the early postoperative period after a Norwood procedure. To reduce the risk for scarring and occluding the femoral artery the stent was implanted via 5F Glidesheath Slender sheath.
October 30, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29079125/hereditary-persistence-of-hemoglobin-f-is-protective-against-red-cell-sickling-a-case-report-and-brief-review
#14
Alexandra Sokolova, Anton Mararenko, Alexander Rozin, Alida Podrumar, Vladimir Gotlieb
Fetal hemoglobin (HbF) is a physiologic protein tetramer that is crucial for a developing fetus to survive in utero. Maternal hemoglobin has a relatively lower affinity for oxygen, and thus allows for an efficient transfer of oxygen from maternal to fetal blood. In addition to fulfilling a critical physiologic role, HbF is also known to alleviate symptoms of sickle-cell disease (SCD). The concentration of HbF depends on several factors. HbF is elevated in inherited conditions, such as hereditary persistence of HbF, hereditary spherocytosis, and thalassemia...
October 16, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/29077684/nasopharyngoscopic-analyses-through-anterior-maxillary-distraction-osteogenesis-for-adolescent-patients-with-cleft-palate
#15
Yoshimichi Imai, Tetsu Nakajo, Kazuaki Nishimura, Hiroyuki Kanzaki, Takayoshi Daimaruya, Akimitsu Satoh, Kaoru Igarashi, Masahiro Tachi
Anterior maxillary distraction osteogenesis (AMDO) is a novel technique for correcting hypoplastic maxilla by sagittal expansion of the maxilla. Recent reports suggest that AMDO does not have an effect on fragile velopharyngeal function in patients with cleft palate. Furthermore, no studies have evaluated the impact of AMDO on velopharyngeal function.We adopted AMDO to correct severe hypoplastic maxilla in adolescent patients with cleft palate and evaluated its impact on velopharyngeal space and function in 8 patients aged 12 to 21 years who underwent AMDO from 2006 to 2014...
October 26, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29070163/dental-caries-experience-in-texan-children-with-cleft-lip-and-palate
#16
Sabrina Sunderji, Bhavini Acharya, Catherine Flaitz, Brett Chiquet
PURPOSE: The purpose of this study was to assess the caries experience in the primary dentition of children born with cleft lip and palate (CLP). METHODS: A retrospective chart review was conducted on subjects between two and six years old recruited from a university-based pediatric dentistry residency clinic. The number of dental visits and professional fluoride applications, the plaque index and treatment modality, and the presence/location of caries, white spot lesions, and enamel hypoplastic lesions were compared between CLP patients and healthy age- and gender-matched controls...
September 15, 2017: Pediatric Dentistry
https://www.readbyqxmd.com/read/29064654/an-unusual-presentation-of-urethral-duplication-presenting-with-chronic-bladder-retention-left-scrotal-transposition-and-left-renal-agenesis
#17
Antonio Macedo, Marcela Leal da Cruz, João Luiz Gomes Parizi, Gustavo Marconi Caetano Martins, Riberto Liguori, Sérgio Leite Ottoni, Bruno Leslie, Gilmar Garrone
INTRODUCTION AND OBJECTIVE: Urethral duplication is a rare congenital anomaly, with roughly 200 cases reported in the literature (1). It is more frequent in males, with few cases reported in females. The clinical presentation differs according to the anatomical variant present. The duplication most commonly occurs in the sagittal plane with one urethra located ventrally and the other dorsally (2). Usually the ventral urethra is the more functional of both. Duplications occurring in the coronal plane are quite rare and they are usually associated with bladder duplication (3)...
October 24, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29063727/nurse-driven-analgesia-and-sedation-in-pediatric-patients-with-univentricular-hearts-requiring-extracorporeal-life-support-after-first-stage-palliation-surgery-a-pilot-study
#18
Jörg Michel, Michael Hofbeck, Ines Gerbig, Vanya Icheva, Ellen Heimberg, Walter Jost, Christian Schlensak, Matthias Kumpf, Gunnar Blumenstock, Felix Neunhoeffer
BACKGROUND: Few data are available regarding requirements of sedation and analgesia in children during extracorporeal life support. AIMS: The aim of this study was to evaluate if children with functionally univentricular hearts on extracorporeal life support after first-stage palliation surgery have higher requirement of analgesics and sedatives compared with children without extracorporeal life support using a goal-directed nurse-driven analgesia and sedation protocol...
December 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29062251/a-congenital-cranial-dysinnervation-disorder-m%C3%A3-bius-syndrome
#19
Hatice Mutlu Albayrak, Nuriye Tarakçı, Hüseyin Altunhan, Rahmi Örs, Hüseyin Çaksen
Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29057564/the-effect-of-fetal-hemodynamics-on-fetal-growth-in-single-ventricle-and-transposition-of-the-great-arteries
#20
Tarek Alsaied, Stephanie Tseng, Eileen King, Eunice Hahn, Allison Divanovic, Mounira Habli, James Cnota
INTRODUCTION: As birth weight is a critical predictor of neonatal congenital heart defect (CHD) outcomes, the common problem of poor fetal growth in this population is clinically important but not well understood. The impact of fetal hemodynamics on fetal growth and birth weight in CHD has not been assessed. Combined cardiac output (CCO) has been used to evaluate patients with structurally normal heart but rarely in CHD. Middle cerebral artery and umbilical artery pulsatility indices (PIs) have been used to evaluate the relative distribution of circulation in patients with CHD...
October 23, 2017: Ultrasound in Obstetrics & Gynecology
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