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anomalies of numer

Ádám Berniczei-Roykó, Jan-Hendrik Tappe, Axel Krinner, Tomasz Gredes, András Végh, Katona Gábor, Kamila Linkowska-Świdzińska, Ute Ulrike Botzenhart
BACKGROUND Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. MATERIAL AND METHODS This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children's Hospital, Budapest...
October 21, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Margaret Loyet, Amy McLean, Karen Graham, Cheryl Antoine, Kathy Fossick
BACKGROUND: Women carrying a fetus with a suspected or known fetal anomaly have complex needs such as emotional and informational support and help with the logistical aspects of arranging care and treatment from numerous specialists. IMPROVEMENT IN QUALITY OF CARE FOR WOMEN CARRYING A FETUS WITH A SUSPECTED OR KNOWN FETAL ANOMALY:: Our fetal care team was initiated in 2012 to meet the needs of this high-risk pregnant population. The fetal care team nurse coordinator supports the woman and her family through all aspects of care during the pregnancy and neonatal period including scheduling appointments with multiple specialists, being there with her as a support person, keeping her updated, making sure she has accurate information about the fetal diagnosis, and helping her to navigate the complex healthcare system...
November 2016: MCN. the American Journal of Maternal Child Nursing
Olivier Boucherat, Kim Landry-Truchon, Rifdat Aoidi, Nicolas Houde, Valérie Nadeau, Jean Charron, Lucie Jeannotte
BACKGROUND: Reciprocal epithelial-mesenchymal communications are critical throughout lung development, dictating branching morphogenesis and cell specification. Numerous signaling molecules are involved in these interactions but how epithelial-mesenchymal crosstalk is coordinated remains unclear. The ERK/MAPK pathway transduces several important signals in lung formation. Epithelial inactivation of both Mek genes, encoding ERK/MAPK kinases, causes lung agenesis and death. Conversely, Mek mutation in mesenchyme results in lung hypoplasia, trachea cartilage malformations, kyphosis, omphalocele and death...
October 17, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
Cristina Camprubí, Albert Salas-Huetos, Riccardo Aiese-Cigliano, Anna Godo, Maria-Carme Pons, Giancarlo Castellano, Mark Grossmann, Walter Sanseverino, José I Martin-Subero, Nicolás Garrido, Joan Blanco
The influence of aberrant sperm DNA methylation on the reproductive capacity of couples has been postulated as a cause of infertility. This study compared the DNA methylation of spermatozoa of 19 fertile donors and 42 infertile patients using the Illumina 450K array. Clustering analysis of methylation data arranged fertile and infertile patients into two groups. Bivariate clustering analysis identified a differential distribution of samples according to the characteristics of seminogram and age, suggesting a possible link between these parameters and specific methylation profiles...
September 15, 2016: Reproductive Biomedicine Online
Shenhao Dai, Marie Jaeger, Pierre Simon Jouk, Dominic Pérennou, Klaus Dieterich
OBJECTIVE: Arthrogryposis multiplex congenita (AMC) is a clinical diagnosis characterized by the presence of at least two joint contractures at birth. Causes of AMC are numerous involving CNS, neuromuscular system, connective and bone tissue. This study is the first to describe disability patterns of a cohort of adults with AMC. MATERIALS/PATIENTS AND METHODS: Thirty-nine patients (age 33.8±11.5 years; 23 females) underwent between 2010 and 2016 a 4 day evaluation in the PMR ward during the multidisciplinary consultations for AMC at the Reference Centre of Congenital Anomalies in Grenoble: 25 with amyoplasia, 8 with distal arthrogryposis (DA), and 6 with other atypical diseases...
September 2016: Annals of Physical and Rehabilitation Medicine
Silvia Zullo
In the contemporary debate on the use of the neurosciences in ethics and law, numerous arguments have been bandied about among scientists and philosophers looking to uphold or reject the reliability and validity of scientific findings obtained by brain imaging technologies. Among the most vexing questions is, Can we trust that technology? One point of disagreement is whether brain scans offer a window through which to observe the functioning of the mind, in such a way as to enable lawyers, judges, physicians, and lawmakers to detect anomalies in brain function that may account for criminal unconscious behavior...
October 2016: Cambridge Quarterly of Healthcare Ethics: CQ: the International Journal of Healthcare Ethics Committees
P Vaněk, Ondřej Bradáč, P de Lacy, R Konopková, J Lacman, V Beneš
There are numerous indications for stabilization using instrumentation of the upper cervical spine. This area is comprised of sophisticated anatomy. There is no study describing bony and vascular anomalies of this area in the middle European population. The main aim of this study was to investigate prevalence of any vertebral artery (VA) variations and osseous anomalies in the region of the craniocervical junction in a large sample of Czech patients based on three-dimensional computed tomographic angiography (3D CTA)...
September 13, 2016: Neurosurgical Review
Yunus Levent Ekinci
This paper presents an easy-to-use open source computer algorithm (code) for estimating the depths of isolated single thin dike-like source bodies by using numerical second-, third-, and fourth-order horizontal derivatives computed from observed magnetic anomalies. The approach does not require a priori information and uses some filters of successive graticule spacings. The computed higher-order horizontal derivative datasets are used to solve nonlinear equations for depth determination. The solutions are independent from the magnetization and ambient field directions...
2016: SpringerPlus
Justin Holder, Daniel Zinn, Amiram Samin
Adult-onset hypertrophic pyloric stenosis (HPS) is a rare anomaly that can be idiopathic or related to underlying gastric pathology. We describe a case of a 25-year-old man with history of human immunodeficiency virus and osteoglophonic dysplasia who presented with pain and swelling at a gastrostomy site. Computed tomography and upper gastrointestinal barium swallow demonstrated gastric distention and stricture at the distal portion of the gastric antrum. An ultrasound detected HPS. The patient eventually required pyloromyotomy for treatment...
September 2, 2016: Ultrasound Quarterly
Eshagh Ali Saberi, Sediqe Ebrahimipour
OBJECTIVES: The objective of this study was to evaluate the prevalence of dental developmental anomalies in digital panoramic radiographs of the patients referred to the Zahedan medical imaging center and to evaluate the frequency of anomalies regarding the disorders in shape, position and number in the Southeast of Iran. MATERIALS AND METHODS: A total of 1172 panoramic radiographs from 581 males and 586 females aged over 16 years were obtained from the files of the Zahedan medical imaging center between the years of 2014 and 2015...
July 2016: Journal of International Society of Preventive & Community Dentistry
E Delay, S La Marca, S Guerid
Breast deformity of Poland syndrome is a malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been published but none achieved to correct severe cases before description of lipomodeling technique. The aim of this article is to present thoraco-mammary deformity of Poland syndrome, corrections techniques already available and therapeutical indications in primary and secondary cases. Constant anomaly of Poland syndrome is agenesis of sternocostal part of pectoralis major muscle but other muscular anomalies can be associated...
October 2016: Annales de Chirurgie Plastique et Esthétique
Nicolas Fernandez, Rebeca Escobar, Ignacio Zarante
INTRODUCTION: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. MATERIALS AND METHODS: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Roberto Alonso, Raúl Monroy, Luis A Trejo
The Domain Name System (DNS) is a critical infrastructure of any network, and, not surprisingly a common target of cybercrime. There are numerous works that analyse higher level DNS traffic to detect anomalies in the DNS or any other network service. By contrast, few efforts have been made to study and protect the recursive DNS level. In this paper, we introduce a novel abstraction of the recursive DNS traffic to detect a flooding attack, a kind of Distributed Denial of Service (DDoS). The crux of our abstraction lies on a simple observation: Recursive DNS queries, from IP addresses to domain names, form social groups; hence, a DDoS attack should result in drastic changes on DNS social structure...
2016: Sensors
J Malova, T Braxatorisova, J Luha, A Totka, D Bohmer
AIM: The aim of this thesis was not only to define the frequency of all orofacial clefts and their particular types, but also to determine the sex of an embryo or fetus and detect associated developmental and chromosomal abnormalities. Approximately one third of orofacial clefts are a part of chromosomal syndromes. MATERIALS AND METHODS: Retrospective morphological and cytogenetic study of 43 cases of different types of orofacial clefts between 1992-2014 from miscarriages (spontaneous abortions) and premature births...
2016: Bratislavské Lekárske Listy
Patchareya Nivatpumin, Pawinee Pangthipampai, Tachawan Jirativanont, Sukanya Dej-Arkom, Namtip Triyasunant, Thongchai Tempeetikul
BACKGROUND: Nowadays, fetoscopic surgery has been accepted to be a procedure to correct numerous congenital anomalies. This operation can be successfully done under general, regional or local anesthesia with sedation. Incidence of complications from anesthesia in fetoscopic surgery has not been reported in Thailand. OBJECTIVE: To describe anesthetic techniques and incidence of complications in fetoscopic surgery. MATERIAL AND METHOD: Data of 152 pregnant women undergoing fetoscopic surgery in a single university hospital was retrospectively chart reviewed from June 2005 to November 2015...
May 2016: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Jean-Loup Duband, Sophie Escot, Claire Fournier-Thibault
The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcriptional activator TBX1 is decisive for the occurrence of the disease. During embryogenesis, Tbx1 is required for patterning of pharyngeal region giving rise to structures of the face, neck and chest...
2016: Rare Diseases
Béatrice Vergier, Elodie Laharanne, Martina Prochazkova-Carlotti, Arnaud de la Fouchardière, Jean-Philippe Merlio, Natacha Kadlub, Marie-Françoise Avril, Christine Bodemer, Caroline Lacoste, Franck Boralevi, Alain Taieb, Khaled Ezzedine, Sylvie Fraitag
Importance: The differential diagnosis between proliferative nodules (PNs) and melanoma arising in congenital melanocytic nevi (CMN) is crucial, as patients with PNs most often experience no increased risk of melanoma with metastases and death. Objective: To analyze the utility of immunohistochemistry and fluorescence in situ hybridization (FISH) in distinguishing PNs from childhood and adult-onset melanoma arising in CMN. Design, Setting, and Participants: A case series was conducted from June 29, 1989, to November 12, 2009, of 13 children with PNs arising in CMN in childhood and 5 children with melanomas arising in CMN in childhood...
October 1, 2016: JAMA Dermatology
Yukiko Imada, Hiroaki Tatebe, Masahiro Watanabe, Masayoshi Ishii, Masahide Kimoto
The El Niño/Southern Oscillation (ENSO) is the dominant mode of climate variability affecting worldwide extreme weather events; therefore, improving ENSO prediction is an important issue. In this regard, a peculiar time evolution of ENSO in 2014 posed a challenge to the climate science community. Despite the observance of several precursors for a strong El Niño to develop during the summer and autumn, cold sea surface temperature (SST) anomalies appeared unexpectedly to the south of the equatorial cold tongue, which prevented development of an El Niño event in the late summer...
2016: Scientific Reports
Haiming Yuan, Mengfan Chen, Xiaoyan Deng, Fen Lyu
OBJECTIVE: To explore the relationship between spontaneous miscarriage and chromosomal aberrations identifiable with chromosomal microarray analysis (CMA). METHODS: A total of 440 product-of-conceptions were collected for the CMA testing. RESULTS: Four hundred and seventeen of 440 specimens (94.7%) were successfully detected, among which 209 (50.1%) were chromosomal abnormalities. One hundred and twenty-nine (61.7%) of the 209 specimens were numerical chromosomal abnormalities, 40 specimens (19...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Rania Naoufal, Marine Legendre, Dominique Couet, Brigitte Gilbert-Dussardier, Alain Kitzis, Frederic Bilan, Radu Harbuz
Array comparative genomic hybridization (aCGH) is now widely adopted as a first-tier clinical diagnostic test for patients with developmental delay (DD)/intellectual disability (ID), autism spectrum disorders, and multiple congenital anomalies. Nevertheless, classic karyotyping still has its impact in diagnosing genetic diseases, particularly mosaic cases. We report on a 30 year old patient with syndromic intellectual disability, a 22q13.2 microdeletion and mosaic trisomy 22. The patient had the following clinical features: intrauterine growth retardation at birth, hypotonia, cryptorchidism, facial asymmetry, enophthalmus, mild prognathism, bifid uvula, hypoplastic upper limb phalanges, DD including speech delay, and ID...
September 2016: European Journal of Medical Genetics
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