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https://www.readbyqxmd.com/read/29045944/prevalence-estimates-of-rare-congenital-anomalies-by-integrating-two-population-based-registries-in-tuscany-italy
#1
Alessio Coi, Michele Santoro, Anna Pierini, Sonia Marrucci, Federica Pieroni, Fabrizio Bianchi
BACKGROUND/AIMS: Population-based registries play a key role in the epidemiological surveillance of congenital anomalies (CAs). This study is aimed at improving the epidemiological surveillance and providing prevalence estimates of rare CAs using the Registry of Rare Diseases as an added data source to the Registry of Congenital Anomalies. METHODS: Cases of diagnosed rare CAs (2006-2013) were extracted from the Tuscany Registry of Rare Diseases and the Tuscany Registry of Congenital Anomalies in order to set up an integrated dataset...
September 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/29045744/developmental-differences-between-schizophrenia-and-bipolar-disorder
#2
Mara Parellada, Sandra Gomez-Vallejo, Monica Burdeus, Celso Arango
Ample evidence supports a neurodevelopmental origin in some cases of schizophrenia (SZ). More inconsistent information is available for bipolar disorder (BD). We herein review studies with a focus on premorbid (adjustment and functionality) and early developmental milestones that include both SZ and BD patients. A search was performed in the PubMed electronic database, retrieving 619 abstracts; 30 were ultimately included in this systematic review. Eight prospective cohorts, 15 retrospective studies, and 7 studies based on national registries...
October 14, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29044761/thermal-refugia-against-coral-bleaching-throughout-the-northern-red-sea
#3
Eslam O Osman, David J Smith, Maren Ziegler, Benjamin Kürten, Constanze Conrad, Khaled M El-Haddad, Christian R Voolstra, David J Suggett
Tropical reefs have been impacted by thermal anomalies caused by global warming that induced coral bleaching and mortality events globally. However, there have only been very few recordings of bleaching within the Red Sea despite covering a latitudinal range of 15° and consequently it has been considered a region that is less sensitive to thermal anomalies. We therefore examined historical patterns of sea surface temperature (SST) and associated anomalies (1982-2012) and compared warming trends with a unique compilation of corresponding coral bleaching records from throughout the region...
October 17, 2017: Global Change Biology
https://www.readbyqxmd.com/read/29044348/sonographically-abnormal-placenta-an-association-with-an-increased-risk-poor-pregnancy-outcomes
#4
W D Wan Masliza, M Y Bajuri, M R Hassan, N M Naim, A Shuhaila, S Das
BACKGROUND: The placenta is a most interesting but unfortunately often ignored and misunderstood organ. Placental abnormalities, therefore, can be an "early warning system" for fetal problems. A complete prenatal sonographic examination of the placenta is an essential component as its abnormalities can have a direct effect on fetal or maternal outcomes, obstetrical management and future fertility. OBJECTIVE: To determine whether any association exists between the finding of an increased thickness of placenta, abnormal placenta shape, placental calcification, placental lake and abnormal cord insertion site at 20-22 and 30-32 weeks gestation with an increased risk of uteroplacental complications or a poor pregnancy outcome...
September 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29044089/congenital-sixth-nerve-palsy-with-associated-anomalies
#5
Nirupama Kasturi
Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29043971/-what-are-the-treatment-needs-in-adults-an-evaluation-of-258-cases-by-the-iotn
#6
Sarah Gebeile-Chauty, William Birraux
INTRODUCTION: The aim of this epidemiological study was to evaluate the need for orthodontic treatment in a sample of adults living in France. MATERIALS AND METHODS: The indicator selected was the dental component, IOTN (index of orthodontic treatment need). RESULTS: Among the 258 adults evaluated, 37% of patients had a strong need and 21% had a moderate need; 29% of those aged 35 and under were in strong need for treatment compared with 47% of those over 35 years, with the need for treatment increasing with age...
September 2017: L' Orthodontie Française
https://www.readbyqxmd.com/read/29043801/compressibility-anomalies-in-stretched-water-and-their-interplay-with-density-anomalies
#7
Vincent Holten, Chen Qiu, Emmanuel Guillerm, Max Wilke, Jaroslav Ricka, Martin Frenz, Frédéric Caupin
Water keeps puzzling scientists because of its numerous properties which behave oppositely to usual liquids: for instance, water expands upon cooling, and liquid water is denser than ice. To explain this anomalous behaviour, several theories have been proposed, with different predictions for the properties of supercooled water (liquid at conditions where ice is stable). However, discriminating between those theories with experiments has remained elusive because of spontaneous ice nucleation. Here we measure the sound velocity in liquid water stretched to negative pressure, and derive an experimental equation of state, which reveals compressibility anomalies...
October 18, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/29043712/uterus-dysplasia-associated-with-cervico-vaginal-agenesis
#8
Ali Mahdavi, Hadi Mirfazaelian, Ladan Younesi Asl, Zeynab Hasani, Maryam Bahreini
Müllerian ducts can form upper parts of normal female reproductive system and any failure in ductal fusion may result in to müllerian duct anomalies (MDA). We present a case of MDA and a uterus dysplasia with no evidence of cervical or upper vaginal tissue. This case showes the role of magnetic resonace imaging (MRI) on MDA diagnosis and urges the need for a unified reliable and practical classification more compatible with clinical practice.
January 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29043695/-vascular-anomalies-in-the-neonatal-period
#9
M Bejarano, F Vicario, A Soria, F J Parri, A Albert
OBJECTIVE: Vascular anomalies in the neonatal period are a diagnostic challenge for the lack of evident signs, symptoms and follow-up, and the convenience of restricting aggressive diagnostic tests. The aim of this work is to review the characteristics of neonatal cases presented to our Vascular Anomalies Unit in the last 5 years. MATERIALS AND METHODS: All cases of suspected vascular anomaly presented to our unit before 1 month of age between 2010 and 2015 were reviewed, diagnostic tests and treatments carried out with chronology were analyzed...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#10
F J Murcia Pascual, L Delgado Cotán, V Jiménez Crespo, F Vázquez Rueda, E Rodríguez Cano, M Miño Mora, R M Paredes Esteban
OBJECTIVES: To assess the accuracy of prenatal ultrasound diagnosis and to analyze the protocol applied for congenital defects (CD) in our environment. METHODS: Descriptive study of prenatally diagnosed CD in our area between 2004-2013. Includes: total births, fetal medicine referrals (number of consultations, ultrasound, invasive techniques) anatomical and chromosomal abnormalities, confirmed diagnoses, necropsies performed, false diagnoses, absence of prenatal diagnoses, and number and reasons for abortions (VIEs)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29043421/the-duplicated-collecting-system-of-the-urinary-tract-embryology-imaging-appearances-and-clinical-considerations
#11
REVIEW
Ryne A Didier, Jeanne S Chow, Neha S Kwatra, Alan B Retik, Robert L Lebowitz
Duplication anomalies of the urinary collecting system are common and can be discovered and characterized with multiple imaging modalities. The embryology, imaging manifestations and clinical ramifications of duplicated ureters and renal collecting systems vary from a normal anatomical variant to urological pathology and are discussed and illustrated in this review.
October 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29043205/an-extremely-rare-case-of-concurrent-braf-v600e-mutation-driven-hairy-cell-leukemia-and-melanoma-case-report-and-review-of-literature
#12
Amir Ghorbani-Aghbolaghi, Mirna Lechpammer, Saba F Ali, Nam K Ku, Denis M Dwyre, Hooman H Rashidi
BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), and the predominant mutation is p.V600E which is the substitution of glutamic acid (E) for valine (V) as result of a mutation at codon 600 of the kinase domain. To our knowledge, the vast majority of the cancers have non-germline BRAF mutations. Here we describe a case of a 60-year-old female with a history of hairy cell leukemia (HCL) who presented with aphasia and forgetfulness...
July 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/29043104/undescended-cecum-with-accessory-right-colic-artery-a-rare-case-report
#13
Praveen Kumar Ravi, Manisha Rajanand Gaikwad, Pravash Ranjan Mishra, Naina Santosh Wakode, Prabhas Ranjan Tripathy, E Tripati Patro, Babita Kujur, Santosh Laxman Wakode
Midgut malrotation and incomplete rotation are common causes of neonatal intestinal obstruction. At end of 10 week of intrauterine life, cecum will be placed in subhepatic region temporarily and descends to right lower quadrant by eleventh week. Arrest of cecum in subhepatic region or undescended cecum is a rare congenital anomaly of mid gut. Usually, it remains asymptomatic and is diagnosed incidentally. If any pathology occurs in anomalous part, like appendicitis then the diagnosis and treatment will be challenging in all age groups...
September 2017: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#14
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29042817/accuracy-of-the-hypospadias-diagnoses-and-surgical-treatment-registrations-in-the-danish-national-patient-register
#15
Linn Håkonsen Arendt, Andreas Ernst, Morten Søndergaard Lindhard, Anne Aggerholm Jønsson, Tine Brink Henriksen, Jørn Olsen, Jorgen Thorup, L Henning Olsen, Cecilia Høst Ramlau-Hansen
PURPOSE: The Danish National Health registers provide a valuable data source that offers unique opportunities for observational research, including studies on the congenital anomaly hypospadias. The accuracy of the diagnosis and surgical treatment registration of hypospadias in the Danish National Patient Register (DNPR) remains unknown. PATIENTS AND METHODS: We randomly sampled 500 patients diagnosed with hypospadias in the DNPR from January 1, 1995 to December 31, 2012...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/29042787/perinatal-and-follow-up-outcome-study-of-fetal-anomalies-with-multidisciplinary-consultation
#16
Genxia Li, Na Yang, Mingkun Xie, Yajuan Xu, Ning Han, Qi Chen, Hezhou Li, Yueli Wu, Chunhua Cheng, Yuhong Wang, Man Zhou, Bo Xia, Shuhua Guo, Shihong Cui
SYNOPSIS: The establishment of a multidisciplinary consultation system is necessary for the diagnosis of complicated fetal anomalies. PURPOSE: We aimed to investigate the incidences of different types of fetal anomalies and the influence of multidisciplinary consultation on fetal prognosis. PATIENTS AND METHODS: Multidisciplinary specialists include obstetricians, pediatricians, pediatric surgeons, and experts of ultrasound department and genetic counseling...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29042740/arteriovenous-malformation-of-face
#17
Ashok Kumar, Meenu Mittal, Dhirendra Srivastava, Vipul Jaetli, Sunil Chaudhary
Arteriovenous malformations (AVMs) are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area...
July 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29042737/nance-horan-syndrome-a-rare-case-report
#18
Shambhu Sharma, Pankaj Datta, Janak Raj Sabharwal, Sonia Datta
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors...
July 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29042703/modification-of-dentofacial-growth-associated-with-goldenhar-syndrome
#19
Ei Ei Hsu Hlaing, Yoshihito Ishihara, Chikako Hara, Hiroshi Kamioka
The rare developmental defect, Goldenhar syndrome is characterized by complex craniofacial and dentofacial anomalies. Here we describe the successful orthodontic treatment of a 5-year-old Japanese Goldenhar syndrome patient with mild facial asymmetry, right microtia, right-side hearing loss, and tongue-thrusting by a modification of dentofacial growth using a non-surgical orthopedic treatment approach. Improvement of the vertical discrepancies on the affected side and canted occlusal plane as well as mandibular deviation were achieved with a functional orthopaedic approach...
October 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/29042577/dual-source-computed-tomography-for-evaluating-pulmonary-artery-and-aorta-in-pediatric-patients-with-single-ventricle
#20
Meng-Xi Yang, Zhi-Gang Yang, Yi Zhang, Ke Shi, Hua-Yan Xu, Kai-Yue Diao, Ying-Kun Guo
To explore the accuracy of main pulmonary artery (MPA) and ascending aorta (AAO) image evaluation in pediatric patients with single ventricle (SV) by comparing dual-source computed tomography (DSCT) with echocardiography. Thirty-one children with SV were retrospectively enrolled. The stenosis, dilation, and location of MPA and AAO were independently evaluated by DSCT and echocardiography. The accompanying arterial malformations were also assessed by DSCT. For 17 patients undergoing cardiac catheterization, the DSCT-based diameters of MPA and AAO were correlated with their pressures as measured by catheterization...
October 17, 2017: Scientific Reports
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