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https://www.readbyqxmd.com/read/29245094/concomitant-rhomboid-shaped-tibiae-and-fibulae-finger-like-projections-and-orthopedic-management-in-a-new-variant-of-nievergelt-syndrome-a-case-report
#1
Tuna Pehlivanoğlu, Mehmet Demirel, Yavuz Sağlam, Halil İbrahim Balci, Hayati Durmaz
INTRODUCTION: The rare Nievergelt syndrome (NS) is the most severe form of mesomelic dysplasia and is characterized by disproportionate shortness of the limbs. The aim of this case report was to describe the clinical and radiological features of a rare case of NS. PRESENTATION OF CASE: Here we describe a female patient originally presenting with bilateral hand, lower leg, and foot deformities at the age of 10 years old. In addition to the characteristic features of NS, this patient presented with finger-like projections on her heels, bilateral hand anomalies, and atypical facial features...
December 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29244903/dermal-fibroblast-in-cutaneous-development-and-healing
#2
REVIEW
Venkata Thulabandu, Demeng Chen, Radhika P Atit
The skin is the largest organ of the body and is composed of two layers: the overlying epidermis and the underlying dermis. The dermal fibroblasts originate from distinct locations of the embryo and contain the positional identity and patterning information in the skin. The dermal fibroblast progenitors differentiate into various cell types that are fated to perform specific functions such as hair follicle initiation and scar formation during wound healing. Recent studies have revealed the heterogeneity and plasticity of dermal fibroblasts within skin, which has implications for skin disease and tissue engineering...
December 15, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/29244686/high-thoracic-disc-herniation-causing-horner-syndrome-with-the-intraoperative-finding-of-conjoined-nerve-root-compression-a-case-report
#3
Amit K Bhandutia, Zachary Zuzek, Matthew J Schessler, Nestor D Tomycz, Daniel T Altman
CASE: A 29-year-old man presented with right medial arm pain with paresthesia, as well as right-sided ptosis, miosis, and anhidrosis. Magnetic resonance imaging revealed a right paracentral disc herniation at the T1-T2 level. The patient underwent a hemilaminectomy with a medial facetectomy through a posterolateral approach to the T1-T2 disc space, followed by a discectomy. Intraoperative findings were notable for a conjoined nerve root. CONCLUSION: Although high thoracic disc herniation is rare, its diagnosis should be considered when patients present with radicular arm pain and Horner syndrome...
January 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29244161/the-impact-of-coronary-anomalies-on-the-outcome-in-aortic-valve-surgery-comparison-of-bicuspid-aortic-valve-versus-tricuspid-aortic-valve-morphotype
#4
Shiho Naito, Johannes Petersen, Hermann Reichenspurner, Evaldas Girdauskas
OBJECTIVES: The association of anomalous anatomy of coronary arteries and bicuspid aortic valve (BAV) has been sporadically reported. Our aim was to evaluate the prevalence of coronary anomalies between BAV and tricuspid aortic valve (TAV) and to analyse their impact on major adverse cardiac events during and after aortic valve surgery. METHODS: A total of 1099 consecutive patients who received preoperative coronary evaluation and elective aortic valve replacement/repair between January 2013 and July 2016 at our institution were involved...
December 12, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29244110/proteomic-profiling-of-human-uterine-fibroids-reveals-upregulation-of-the-extracellular-matrix-protein-periostin
#5
M Fairuz B Jamaluddin, Yi-An Ko, Manish Kumar, Yazmin Brown, Preety Bajwa, Prathima B Nagendra, David Skerrett-Byrne, Hubert Hondermarck, Mark A Baker, Matt D Dun, Rodney J Scott, Pravin Nahar, Pradeep S Tanwar
The central characteristics of uterine fibroid is excessive deposition of extracellular matrix (ECM), which contributes to fibroid growth and bulk-type symptoms. Despite this, very little is known about ECM protein expression patterns in fibroids and whether these are influenced by the most common genetic anomalies, which relate to MED12. We performed extensive genetic and proteomic analyses of clinically annotated fibroids and adjacent normal myometrium to identify the composition and expression patterns of ECM proteins in MED12 mutation-positive and mutation-negative uterine fibroids...
December 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/29243877/multiple-sulfur-isotope-constraints-on-microbial-sulfate-reduction-below-an-archean-seafloor-hydrothermal-system
#6
Shinnosuke Aoyama, Yuichiro Ueno
Microbial sulfate reduction is among the most ubiquitous metabolic processes on earth. The oldest evidence of microbial sulfate reduction appears in the ca. 3.5 Ga Dresser Formation in the North Pole area of Pilbara Craton in Western Australia. That evidence was found through analysis of quadruple sulfur isotopes of sulfate and sulfide minerals deposited on the seafloor. However, the activity of microbial sulfate reduction below the Archean seafloor remains poorly understood. Here, we report the quadruple sulfur isotopic compositions of sulfide minerals within hydrothermally altered seafloor basalt and less altered basaltic komatiite collected from the North Pole Dome area...
December 15, 2017: Geobiology
https://www.readbyqxmd.com/read/29243512/the-relationship-between-hospital-construction-and-high-risk-infant-auditory-function-at-nicu-discharge-a-retrospective-descriptive-cohort-study
#7
Valerie Willis
PURPOSE: To describe the difference in auditory function at neonatal intensive care unit (NICU) discharge between high-risk infant cases exposed to hospital construction during NICU stay and those not exposed. BACKGROUND: Noise produced by routine NICU caregiving exceeds recommended intensity. As California hospitals undergo construction to meet seismic safety regulations, vulnerable neonates are potentially exposed to even higher levels of noise. Ramifications are unknown...
January 1, 2017: HERD
https://www.readbyqxmd.com/read/29243304/holmes-heart-and-tetralogy-of-fallot-in-association-with-phace
#8
Caitlin M Peterman, Keith W Morley, Albert C Yan, Leslie A Castelo-Soccio, Marilyn G Liang
PHACE is an association between large infantile hemangiomas and brain, arterial, cardiac, and/or ocular abnormalities. Aortic or subclavian aberrations are the most common cardiovascular anomalies in PHACE, whereas complex congenital heart disease is rare. We report a case of Holmes heart and three cases of tetralogy of Fallot in PHACE association.
December 15, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29243259/a-unique-anomaly-of-the-ear-oculo-auriculo-vertebral-spectrum-or-an-isolated-disruption
#9
Eleonoor A R Theunissen, Isabella C M Hoogslag, Erik van Spronsen, Roelof J Oostra, Fenna A Ebbens
We present a rare case of a neonate with an isolated congenital condition of his right ear involving the outer ear, middle ear, eustachian tube, and the facial nerve, with an external opening into the skull that connects to the oropharynx. Taking this bizarre aspect of the exterior lesion and the oropharyngeal communication into account, we consider the condition presented here, which to our knowledge is the first of its kind to have resulted from a vascular disruption. Laryngoscope, 2017.
December 15, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29243189/congenital-portosystemic-venous-shunt
#10
REVIEW
M Papamichail, M Pizanias, N Heaton
Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic circulation and have been divided into extra- and intrahepatic shunts. They occur during liver and systemic venous vascular embryogenesis and are associated with other congenital abnormalities. They carry a higher risk of benign and malignant liver tumors and, if left untreated, can result in significant medical complications including systemic encephalopathy and pulmonary hypertension...
December 14, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29242958/impact-of-radical-hysterectomy-on-the-transobturator-sling-pathway-a-retrospective-three-dimensional-magnetic-resonance-imaging-study
#11
Jinyang Chen, Chunlin Chen, Yige Li, Lan Chen, Juan Xu, Ping Liu
INTRODUCTION AND HYPOTHESIS: Morphological and functional anomalies of the urethra may cause stress urinary incontinence after radical hysterectomy (RH). We introduce a novel three-dimensional (3D) magnetic resonance imaging (MRI) technique to assess the impact of RH on the transobturator sling pathway. METHODS: 3D-MRI reconstruction models were retrospectively developed for the measurement of various parameters before and after RH, including puncture angle, orientation and distance from the midurethral puncture site to the obturator membrane (DUO), in 31 patients with cervical cancer...
December 14, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/29242954/-abdominal-lymphatic-malformations-german-version
#12
REVIEW
W A Wohlgemuth, L M Dendl, R Brill, F Stangl, D Stoevesandt, A G Schreyer
BACKGROUND: Abdominal lymphatic malformations (LM) are relatively rare findings in the differential diagnosis of focal abdominal lesions; however, they represent a challenge especially in younger patients. The aim of this review article is to provide up-to-date information about the different kinds of LM manifestations. In addition, related syndromes and typical imaging features to facilitate the diagnosis are discussed. RESULTS: The clinical presentation of abdominal LM is unspecific, whereby most are asymptomatic and comprise incidental findings of thin-walled cystic masses anywhere in the abdomen...
December 14, 2017: Der Radiologe
https://www.readbyqxmd.com/read/29242637/probing-defect-dynamics-in-monolayer-mos2-via-noise-nanospectroscopy
#13
Seung Hyun Song, Min-Kyu Joo, Michael Neumann, Hyun Kim, Young Hee Lee
Monolayer molybdenum disulfide (MoS2) has received intense interest as a strong candidate for next-generation electronics. However, the observed electrical properties of monolayer MoS2 exhibit several anomalies: samples universally exhibit unexpectedly low mobilities, n-type characteristics, and large contact resistances regardless of contact metal work function. These anomalies have been attributed to the presence of defects, but the mechanism behind this link has been elusive. Here we report the ionization dynamics of sulfur monovacancy defects in monolayer MoS2 probed via noise nanospectroscopy, realized by combining noise-current analysis with atomic force microscopy...
December 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/29242571/divergent-risk-factors-for-cerebellar-and-intraventricular-hemorrhage
#14
Zachary A Vesoulis, Maja Herco, Amit M Mathur
OBJECTIVE: To identify whether intraventricular hemorrhage (IVH) and cerebellar hemorrhage (CH) have common or divergent risk factors. STUDY DESIGN: This is a retrospective cross-sectional cohort of infants including all infants born <30 weeks from 2007 to 2016. Comprehensive perinatal and clinical factors were extracted from the medical record. Outborn infants, infants with major congenital anomaly, those transferred prior to discharge, and those with mixed or no brain injury were excluded...
December 15, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29242060/higher-programmatic-volume-in-neonatal-heart-surgery-is-associated-with-lower-early-mortality
#15
Andrzej Kansy, Christine Zu Eulenburg, Georgios Sarris, Jeffrey P Jacobs, Jose Fragata, Zdzislaw Tobota, Tjark Ebels, Bohdan Maruszewski
BACKGROUND: The early results of Congenital Heart Surgery in neonates remain a challenge. We sought to determine the nature of the association between annual center volume of neonatal cardiac surgery and operative mortality using a multicenter cohort. METHODS: The dataset consists of 27,556 neonatal procedures performed between 1999 through 2015 in 90 centers participating in the ECHSA Database. Centers with mean annual volume load 6 or more that submitted data for at least 3 consecutive years were included...
December 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29241916/etiology-and-management-of-primary-amenorrhoea-a-study-of-102-cases-at-tertiary-centre
#16
Alka Kriplani, Manu Goyal, Garima Kachhawa, Reeta Mahey, Vidushi Kulshrestha
OBJECTIVE: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. MATERIALS AND METHODS: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29241910/prenatal-diagnosis-of-down-syndrome-a-13-year-retrospective-study
#17
Ana Vičić, Tomislav Hafner, Ivanka Bekavac Vlatković, Petra Korać, Dubravko Habek, Feodora Stipoljev
OBJECTIVE: The aim of this study is to summarize the experience on prenatal diagnosis of Down syndrome. MATERIALS AND METHODS: The study includes a retrospective data analysis of 157 prenatally detected cases of Down syndrome, routinely diagnosed among 6448 prenatal investigations performed during a 13-year period (2002-2014) in a single tertiary center. RESULTS: The prevalence of diagnosed Down syndrome cases was 2.4%. Maternal age alone was indication for prenatal diagnosis in 47 cases (45...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29240692/acoustic-anomalies-and-fast-relaxation-dynamics-of-amorphous-progesterone-as-revealed-by-brillouin-light-scattering
#18
Tae Hyun Kim, Hyojong Yoo, Jae-Hyeon Ko
The amorphous state of pharmaceuticals has attracted much attention due to its high bioavailability and other advantages. The stability of the amorphous state in relation with the local molecular mobility is important from both fundamental and practical points of view. The acoustic properties of amorphous progesterone, one of the representative steroid hormones, were investigated by using a Brillouin inelastic light scattering technique. The Brillouin spectrum of the longitudinal acoustic mode exhibited distinct changes at the glass transition and the cold-crystallization temperatures...
December 14, 2017: Materials
https://www.readbyqxmd.com/read/29240611/clinical-and-molecular-characterization-of-the-first-familial-report-of-1p32-microdeletion
#19
Schaida Schirwani, Kath Smith, Meena Balasubramanian
Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed...
December 13, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29240244/prenatal-diagnosis-of-urinary-tract-anomalies-a-cohort-study-in-the-northern-netherlands
#20
Marian K Bakker, Jorieke E H van Kammen, Hanneke Fleurke-Rozema, Esther Streefland, Valentina Gracchi, Caterina M Bilardo, Hermien E K De Walle
OBJECTIVE: To describe prevalence, time of diagnosis and type of birth in children and fetuses with urinary tract (UT) anomalies after the introduction of the anomaly scan in the Netherlands in 2007. METHODS: We selected, from a population-based congenital anomaly registry, children and fetuses with UT anomalies born between 2008-2014. Cases were defined according to type of UT anomaly and whether isolated or with associated anomalies. Information was collected on time of diagnosis and type of birth...
December 14, 2017: Prenatal Diagnosis
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