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https://www.readbyqxmd.com/read/28933802/invesigation-of-prevalence-of-dental-anomalies-by-using-digital-panoramic-radiographs
#1
Nebiha Hilal Bilge, Selin Yeşiltepe, Kübra Törenek Ağırman, Fatma Çağlayan, Osman Murat Bilge
BACKGROUND: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6 to 40 year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted by analyzing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental anomalies were divided into five types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism); RESULTS: The prevalence of dental anomalies diagnosed by panoramic radiographs was 39...
September 21, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28931008/biometric-and-structural-ocular-manifestations-of-marfan-syndrome
#2
Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow
BACKGROUND: To study biometric and structural ocular manifestations of Marfan syndrome (MFS). METHODS: Observational, retrospective, comparative cohort study in a tertiary referral center on 285 MFS patients and 267 controls. Structural and biometric ocular characteristic were compared. RESULTS: MFS eyes were longer (axial length 24.25 ± 1.74 mm versus 23.89 ± 1.31 mm, p < 0.001) and had a flatter cornea than control eyes (mean keratometry 41...
2017: PloS One
https://www.readbyqxmd.com/read/28905824/management-of-cataracts-and-ectopia-lentis-in-children-practice-patterns-of-pediatric-ophthalmologists-in-india
#3
Vasudha Kemmanu, Pragnya Rathod, Harsha L Rao, Sumitha Muthu, Chaitra Jayadev
PURPOSE: To analyze the current practice patterns of Indian pediatric ophthalmologists in the management of lens anomalies. This study was conducted in a tertiary eye care hospital and involved an online questionnaire survey for practicing pediatric ophthalmologists in India. METHODS: A questionnaire was devised by the authors, which included the various options available for the management of lens anomalies in children. The questionnaire was sent to each of them using an online portal...
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28902582/marfan-s-syndrome-with-ectopia-lentis
#4
Jayanth Sridhar, Jonathan S Chang
A 41-year-old man presented with progressive loss of vision in both eyes that was worse in the right eye than in the left. There was no history of trauma. His uncorrected visual acuity was 6/200 in the right eye and 20/100 in the left eye. Slit-lamp examination revealed ectopia lentis in both eyes,..
September 14, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28893484/-renal-abnormalities-in-down-syndrome-a-review
#5
C Niamien-Attai, J Bacchetta, B Ranchin, D Sanlaville, P Cochat
Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28872553/hybrid-spect-ct-helps-characterization-and-localization-of-a-dual-thyroid-ectopia
#6
Yasser Abdelhafez, Maha Khalil, Esraa Roshdy, Waleed A Diab, Lobna Eltoni
The presence of ectopic thyroid tissue in 2 or more different sites is rare. A 12-year-old girl presented with midline anterior neck swelling in the infrahyoid region with subclinical hypothyroidism. Thyroid scanning with Tc-pertechnetate was performed, and SPECT/CT was ordered for further evaluation. Two hyperdense lesions demonstrating intense radiotracer uptake were seen in the midline at the base of the tongue and infrahyoid neck. We emphasis the role of hybrid SPECT/CT for characterization and localization of suspected ectopic thyroid tissue...
September 1, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28852580/incidental-finding-of-dual-ectopic-thyroid-on-computed-tomography-angiography
#7
Antonio Pierro, Savino Cilla, Pietro Modugno, Giuseppina Sallustio
The presence of simultaneous two ectopic foci of thyroid tissue (dual ectopic thyroid) is rare, and few cases have been reported in the literature. The ectopic thyroid tissue is an extremely uncommon embryological aberration due to the alterations occurring during the embryological development with incomplete migration of thyroid precursors. Commonly ectopic thyroid tissue is a midline structures, but the lateral location is possible but very rare. Ectopic thyroid is common in women and can vary in size from a microscopic focus to a few centimeters...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28842236/treatment-of-syringomyelia-in-patients-with-arachnoiditis-at-the-cranio-cervical-junction
#8
Christopher L Davidoff, Shinuo Liu, Johnny H Y Wong, Stavros Koustais, Jeffrey M Rogers, Marcus A Stoodley
OBJECTIVE: Cranio-cervical junction arachnoiditis (CCJA) is an uncommon cause of syringomyelia. The pathophysiology of syrinx formation is uncertain and the appropriate management unclear. A series of cases is reported to demonstrate variations in etiology, uniformity of functional CSF obstruction at the foramen magnum, and results of surgical intervention. METHODS: We retrospectively analyzed the clinical and radiological features of a consecutive series of patients treated for syringomyelia related to CCJA...
August 22, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28770133/ectopic-scrotum-with-vacterl-association
#9
Samiul Hasan, Ashrarur Rahman Mitul, Sabbir Karim
Scrotal ectopia is a rare condition. Associated anomalies are common. We describe a neonate with ectopic scrotum with VACTERL association. This combination of anomalies is very rare.
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28770129/pentalogy-of-cantrell-prenatal-diagnosis-delivery-and-immediate-postnatal-surgical-repair
#10
Edward Araujo Júnior, Milene Carvalho Carrilho, Bruno Rodrigues Toneto, José Cícero Stocco Guilhen
Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28767923/surgical-correction-of-ectopic-penis-and-scrotum-associated-with-bilateral-orchidopexy
#11
Daniel Santos Rocha Sobral, Helder Damásio da Silva, Eulálio Damázio
Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared...
April 2017: Einstein
https://www.readbyqxmd.com/read/28758373/fetal-cerebral-ventricular-dilatation-etiopathogenic-study-of-130-observations
#12
Sihem Darouich, Lucile Boutaud, Bettina Bessières, Maryse Bonnière, Jelena Martinovic, Charlotte Mechler, Caroline Alby, Jean-Pierre Bernard, Philippe Roth, Yves Ville, Valerie Malan, Michel Vekemans, Tania Attié-Bitach, Férechté Encha-Razavi
BACKGROUND: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies. METHODS: We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014...
July 31, 2017: Birth defects research
https://www.readbyqxmd.com/read/28749718/ectopic-intralaryngo-tracheal-thyroid-tissue-causing-neonatal-death
#13
Lauren Furnas, Huda Safa, Fiona Hutchinson, Lindsay Joseph, Jane E Armes
INTRODUCTION: Ectopic thyroid tissue can be found anywhere along the embryologic path of thyroid descent. Intralaryngo-tracheal thyroid tissue is the least common site of ectopia and can present with upper airways obstruction. Its presentation in the neonate is exceptional. CASE REPORT: We describe a term female neonate with subglottic thyroid tissue causing near-total occlusion of the larynx, which led to upper airways obstruction and neonatal death. CONCLUSION: This emphasizes the importance of considering intralaryngo-tracheal tumors as a cause of acute and otherwise unexplainable respiratory distress immediately after birth...
July 27, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28747839/etiological-evaluation-of-primary-congenital-hypothyroidism-cases
#14
Diğdem Bezen, Emine Dilek, Neşe Torun, Filiz Tütüncüler
AIM: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. MATERIAL AND METHODS: Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28744072/multimodality-imaging-spectrum-of-complications-of-horseshoe-kidney
#15
Hardik U Shah, Vijayanadh Ojili
Horseshoe kidney is the most common congenital renal fusion anomaly with an incidence of 1 in 400-600 individuals. The most common type is fusion at the lower poles seen in greater than 90% of the cases, with the rest depicting fusion at the upper poles, resulting in an inverted horseshoe kidney. Embryologically, there are two theories hypothesizing the genesis of horseshoe kidney - mechanical fusion theory and teratogenic event theory. As an entity, horseshoe kidney is an association of two anatomic anomalies, namely, ectopia and malrotation...
April 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28743389/cerebrospinal-fluid-leakage-and-chiari-i-malformation-with-gorham-s-disease-of-the-skull-base-a-case-report
#16
Hiroaki Nagashima, Katsu Mizukawa, Masaaki Taniguchi, Yusuke Yamamoto, Eiji Kohmura
BACKGROUND: Gorham's syndrome is a rare bone disorder characterized by massive osteolysis of unknown etiology. There are no reports of comorbidity involving cerebrospinal fluid (CSF) leakage and Chiari I malformation with Gorham's syndrome. Here, we report an unusual case of an acute presyrinx state complicated by bacterial meningitis due to CSF leakage and Chiari I malformation associated with Gorham's disease of the skull base. CASE PRESENTATION: A 25-year-old woman with Chiari I malformation associated with Gorham's syndrome presented with aggressive paresthesia following bacterial meningitis...
July 13, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28724353/marfan-syndrome-and-cardiovascular-complications-results-of-a-family-investigation
#17
Simon Antoine Sarr, Siddikatou Djibrilla, Fatou Aw, Malick Bodian, Kana Babaka, Aliou Alassane Ngaidé, Momar Dioum, Serigne Abdou Ba
BACKGROUND: Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients. CASE PRESENTATION: Six subjects were evaluated. Patients had to be in the same uterine siblings of the index case or be a descendant. The objective was to search for MFS based on the diagnostic criteria of Ghent and, subsequently, detecting cardiovascular damage...
July 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28689684/-ectopic-thymus-a-rare-cause-of-neck-mass-in-children
#18
S Kallel, M Mnejja, M Kessentini, A Ben Said, I Charfeddine, B Hammami, A Ghorbel
INTRODUCTION: Ectopic cervical thymus (ECT) is a rare embryological abnormality in children. It can be revealed by a compressive neck mass mistaken for a malignant tumor. Through a new case of ECT, we review the embryopathogenesis, diagnostic difficulties and therapeutic features. CLINICAL OBSERVATION: A 19-month-old girl presented a right cervical mass that quickly increased in size, causing intermittent dyspnea. The physical examination objectified a 6-cm, soft and compressible, painless right cervical tumefaction, extending from the mastoid area to the ipsilateral supraclavicular fossa...
July 6, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28688135/-lying-down-adrenal-sign-there-are-exceptions-to-the-rule-among-fetuses-and-neonates
#19
Anand Majmudar, Harris L Cohen
A linear-shaped or "lying-down" adrenal gland is a sign often seen with the absence of the kidney in the renal fossa due to renal agenesis, renal ectopia, or horseshoe kidney. It is theorized that the presence of the kidney in the normal location within the renal fossa is important for the formation of the normal triangular inverted V or Y adrenal shape. There are exceptions to this rule whereby a kidney is missing from the renal fossa, yet a normal adrenal shape is present. This series looked at 18 cases of an empty renal fossa in fetal, neonatal, and pediatric patients and recorded the shape of the adrenal gland...
July 8, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28673264/distribution-of-axial-length-in-chinese-congenital-ectopia-lentis-patients-a-retrospective-study
#20
Yichi Zhang, Guangming Jin, Qianzhong Cao, Junxiong Lin, Jianqiang Lin, Yiyao Wang, Su Ern Poh, Charlotte Aimee Young, Danying Zheng
BACKGROUND: Congenital ectopia lentis (CEL) usually leads to refractive error and may influence the axial length development. But few investigations have reported patient demographics and the distribution of axial length (AL) before surgery in Chinese pediatric patients with CEL. To describe the distribution of AL before surgery in CEL patients and its relationship with patients' demographics, such as age, Marfan syndrome, sex, and laterality. METHODS: This retrospective study reviewed 306 CEL patients from January 1, 2006 to December 31, 2015...
July 3, 2017: BMC Ophthalmology
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