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congenital anomaly

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https://www.readbyqxmd.com/read/29351919/high-yield-of-pathogenic-germline-mutations-causative-or-likely-causative-of-the-cancer-phenotype-in-selected-children-with-cancer
#1
Illja Diets, Esmé Waanders, Marjolijn J L Ligtenberg, Diede van Bladel, Eveline J Kamping, Peter M Hoogerbrugge, Saskia Hopman, Maran J W Olderode-Berends, Erica H Gerkes, David Koolen, Carlo Marcelis, Gijs We Santen, Martine van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto-van Silfhout, Thatjana Gardeitchik, E S J M de Bont, Jan Loeffen, Anja Wagner, Arjen R Mensenkamp, Roland P Kuiper, Nicoline Hoogerbrugge, Marjolijn Jongmans
PURPOSE: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole exome sequencing on a selected cohort of children with cancer. EXPERIMENTAL DESIGN: To identify mutations in known and novel cancer predisposing genes, we performed trio-based whole exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer or (4) an adult type of cancer...
January 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29351342/a-homozygous-missense-variant-in-vwa2-encoding-an-interactor-of-the-fraser-complex-in-a-patient-with-vesicoureteral-reflux
#2
Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes. To identify additional monogenic causes of CAKUT, we performed whole exome sequencing (WES) and homozygosity mapping (HM) in a patient with CAKUT from Indian origin and consanguineous descent. We identified a homozygous missense mutation (c...
2018: PloS One
https://www.readbyqxmd.com/read/29351043/congenital-midline-upper-lip-sinuses-3-rare-cases
#3
Jean-Daniel Kün-Darbois, Anne Chatellier, Arnaud Paré, Aude Caillot, Béatrice Ambroise, Hervé Bénateau, Alexis Veyssière
Congenital sinuses of the upper lip are rare congenital malformations. There have been only 40 cases described in the literature. We report 3 cases of congenital midline upper lip sinus in Caucasian children. Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous cleft palate with bifid uvula). The pathophysiology remains unexplained yet. Congenital upper lip sinuses can be considered as possible microforms of cleft-lips. Associated anomalies are frequent and must be sought...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351040/respiratory-polysomnographic-findings-in-patients-treated-primarily-for-unilateral-cleft-lip-and-palate
#4
Davi Sandes Sobral, Gustavo Juliane Faller, Marcus Vinícius Martins Collares
Cleft lip and palate (CLP) is the most common congenital craniofacial abnormality. Obstructive sleep apnea syndrome (OSAS) is a highly prevalent but underdiagnosed disease and is frequently associated with craniofacial anomalies. There are few studies describing the sleep breathing pattern of children with CLP. This study sought to characterize the respiratory profile of 23 children with unilateral cleft lip and palate, aged 7-12 years, who had undergone cleft lip and nasal repair at age 3-4 months and palatoplasty at 12-15 months, with a particular focus on evaluating the presence of OSAS in children with CLP...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29349860/effects-of-maternal-anthropometrics-on-pregnancy-outcomes-in-south-asian-women-a-systematic-review
#5
REVIEW
E Slack, J Rankin, D Jones, N Heslehurst
AIM: This systematic review investigates associations between maternal pre-pregnancy/early-pregnancy anthropometrics (e.g. weight and body fat), anthropometric change and pregnancy outcomes in South Asian and White women. METHODS: Twelve electronic literature databases, reference lists and citations of all included studies were searched. Observational studies published in the English language were included. Descriptive synthesis was used to summarize the evidence base...
January 19, 2018: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29349523/prognostic-factors-of-pediatric-glaucoma-a-retrospective-study
#6
Marilita M Moschos, Eirini Nitoda, Isabelle Fenzel, Xuefei Song, Achim Langenbucher, Barbara Kaesmann, Berthold Seitz, Zisis Gatzioufas
PURPOSE: To correlate the features of certain types of infantile glaucoma with the progression and the prognosis of the disease, highlighting probable risk factors. METHODS: Seventy-six patients with pediatric glaucoma were recruited in this retrospective study. All patients underwent ophthalmological examination in the Department of Ophthalmology of the Saarland University Medical Center from January 2001 to December 2012. Our pediatric patients were classified into four different categories of glaucoma: (1) primary congenital glaucoma (presenting buphthalmus), (2) aniridia-related glaucoma, (3) Peters/Rieger's anomaly-related glaucoma and (4) congenital cataract-related glaucoma...
January 18, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29346049/microphthalmia-corneal-dermoids-and-congenital-anomalies-resembling-goldenhar-syndrome-in-a-cat
#7
William Berkowski, Ingeborg Langohr, Anthony Pease, Joshua Bartoe
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29345718/evaluation-of-the-morphological-characteristic-and-sex-differences-of-sternum-by-multi-detector-computed-tomography
#8
Sibel Ateşoğlu, Mustafa Deniz, Ayşe İmge Uslu
BACKGROUND: Sternum is one of the skeleton parts which have frequently congenital anomalies and variations are commonly used by researchers in determining sex. We evaluated the morphological characteristics and sex-related changes of the sternum in adult individuals using multidetector CT in our study. MATERIALS AND METHODS: 200 adults (103 female and 97 male) aged between 18-87 years were evaluated. Utilizing the morphological characteristics of the sternum based on the multi-slice images; length, width and the thickness of Manubrium, length, width and the thickness of Corpus Sterni, total length of Sternum, Sternal angle, Sternal index, length of the xiphoid process, the thickness of xiphoid process, the number of indents of xiphoid process were measured and a total of 20 parameters were evaluated by adding age, height and weight to these variables...
January 18, 2018: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29345153/selective-serotonin-reuptake-inhibitor-use-in-pregnant-women-pharmacogenetics-drug-drug-interactions-and-adverse-effects
#9
Asher Ornoy, Gideon Koren
Possible negative effects of selective serotonin reuptake inhibitors (SSRIs) in pregnancy relate to congenital anomalies, negative perinatal events and neurodevelopmental outcome. Many studies are confounded by the underlying maternal disease and by pharmacogenetic and pharmacokinetic differences of these drugs. Areas covered: The possible interactions of SSRIs and serotonin and norepinephrine reuptake inhibitors with other drugs and the known effects of SSRIs on congenital anomalies, perinatal and neurodevelopmental outcome...
January 18, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29344999/the-newer-classifications-of-the-chiari-malformations-with-clarifications-an-anatomical-review
#10
Fatima Azahraa Haddad, Ibraheem Qaisi, Nagham Joudeh, Hamada Dajani, Fareed Jumah, Amjad Elmashala, Nimer Adeeb, Joshua J Chern, R Shane Tubbs
In 1891 Hans Chiari described a group of congenital hindbrain anomalies, which were eventually named after him. He classified these malformations into three types (Chiari malformations I, II, and III), and four years later added the Chiari IV malformation. However, numerous reports across the literature do not seem to fit Chiari's original descriptions of these malformations, so researchers have been encouraged to propose new classifications to encompass these variants (e.g., Chiari 0, Chiari1.5, and Chiari 3...
January 18, 2018: Clinical Anatomy
https://www.readbyqxmd.com/read/29344183/a-patient-with-chronic-myeloid-leukemia-and-situs-inversus-totalis-a-case-report
#11
Yunxia Sun, Xiaoli Li, Lijun Li, Huan Liu, Qian Xu, Bei Liu
In the present study, a case of chronic myeloid leukemia (CML) with complete situs inversus in a 68-year-old female patient was reported. The patient presented with general weakness, abdominal distension and tenderness in the right hypochondrium. A chest X-ray revealed a right-sided heart. Ultrasonography revealed situs inversus totalis. A bone marrow smear demonstrated CML in the accelerated phase. Imatinib mesylate was subsequently administered; the patient stopped taking imatinib mesylate following discharge from the hospital...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343922/periureteral-inferior-vena-caval-venous-ring-presenting-as-urinary-obstruction
#12
Suprava Naik, Arashdeep Singh, Sudipta Mohakud, Nerbadyswari Deep
The embryological development of the inferior vena cava (IVC) is complex, and thus the vena cava may undergo a large number of congenital anomalies. Periureteric venous ring is a rare developmental anomaly of IVC where the right ureter passes through a slit-like opening in a partially duplicated infrarenal IVC, resulting in dilatation of upper urinary tract. Split-bolus multidetector computed tomography technique is useful in detecting such vascular anomaly causing ureteric obstruction as it can clearly show the vascular and ureteric phase in a single acquisition...
January 2018: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/29343896/management-of-vascular-anomalies-review-of-institutional-management-algorithm
#13
Lalit K Makhija, Sameek Bhattacharya
Introduction: Vascular anomalies are congenital lesions broadly categorised into vascular tumour (haemangiomas) and vascular dysmorphogenesis (vascular malformation). The management of these difficult problems has lately been simplified by the biological classification and multidisciplinary approach. To standardise the treatment protocol, an algorithm has been devised. The study aims to validate the algorithm in terms of its utility and presents our experience in managing vascular anomalies...
May 2017: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/29342999/-risk-factors-analysis-and-prognosis-of-renal-pelvis-dilatation-in-high-risk-infants-in-monocenter
#14
Q Fu, L R Fan, Y Shen, G J Zhou, H Z Yi, N Sun, J M Wang, L Q Jia, X M Wang, H Wang
Objective: To explore the prognosis and risk factors of pyelectasis in high-risk infants. Methods: This was a retrospective study. Totally 960 high-risk infants, who accepted type B ultrasonic examination for fetus at 28th week of gestation and for newborns in 48 hours after birth, were included in the study in departments of obstetrics and eonatology, Shunyi Maternal and Children's Hospital of Beijing Children's Hospital during May 2012 to April 2013. The degree of pyelectasis was classified using Grignon grade and the paients were followed up for 3 years...
January 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29340729/pulmonary-valve-morphology-in-patients-with-bicuspid-aortic-valves
#15
Wilke M C Koenraadt, Margot M Bartelings, Adriana C Gittenberger-de Groot, Regina Bökenkamp, Marco C DeRuiter, Martin J Schalij, Monique R M Jongbloed
The aortic and pulmonary valve share a common developmental origin from the embryonic arterial trunk. Bicuspid aortic valve is the most common congenital anomaly and can occur isolated as well as in association with other congenital heart disease (CHD). Data on pulmonary valve morphology in these cases are scarce. In this study, we aimed to determine pulmonary valve morphology in hearts with BAV associated with CHD. In 83 post-mortem heart specimens with BAV and associated CHD, pulmonary valve morphology was studied and related to BAV morphology...
January 16, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29339916/pediatric-cataract-surgery-with-hydrophilic-acrylic-intraocular-lens-implantation-in-nepalese-children
#16
Srijana Adhikari, Ujjowala D Shrestha
Purpose: To assess the outcome of cataract surgery with hydrophilic acrylic intraocular lens (IOL) implantation in children with congenital and developmental cataracts. Method: A retrospective review of medical records of children with congenital or developmental cataracts who underwent cataract surgery with hydrophilic IOL implantation, from January 2011 to December 2014 in a tertiary eye hospital in Nepal. Primary posterior capsulotomy, anterior vitrectomy, and IOL implantation was done in children 8 years or younger, while older children underwent only lens aspiration and IOL implantation...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29338874/extracorporeal-membrane-oxygenation-in-infants-with-congenital-diaphragmatic-hernia
#17
REVIEW
Theresa R Grover, Natalie E Rintoul, Holly L Hedrick
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly which impairs normal pulmonary development leading to acute and chronic respiratory failure, pulmonary hypoplasia, pulmonary hypertension, and mortality. CDH is the most common non-cardiac indication for neonatal ECMO. Prenatal and postnatal predictors of CDH severity aid in patient selection. Centers vary in preferred mode of ECMO and timing of CDH repair. Survivors of severe CDH with ECMO are at risk for long-term sequelae including neurodevelopmental delays...
January 12, 2018: Seminars in Perinatology
https://www.readbyqxmd.com/read/29338844/sfe-sfedp-adrenal-insufficiency-french-consensus-introduction-and-handbook
#18
Yves Reznik, Pascal Barat, Jérôme Bertherat, Claire Bouvattier, Frédéric Castinetti, Olivier Chabre, Philippe Chanson, Christine Cortet, Brigitte Delemer, Bernard Goichot, Damien Gruson, Laurence Guignat, Emmanuelle Proust-Lemoine, Marie-Laure Raffin Sanson, Rachel Reynaud, Dinane Samara Boustani, Dominique Simon, Antoine Tabarin, Delphine Zenaty
The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the adult and child, based on an analysis of the literature by 19 experts in 6 work-groups. A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms except hyperpigmentation which is observed in primary adrenal insufficiency. Diagnosis rely on plasma cortisol and ACTH measurement at 8am and/or the cortisol increase after synacthen administration...
January 12, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29337383/the-national-pregnancy-in-diabetes-npid-audit-challenges-and-opportunities-for-improving-pregnancy-outcomes
#19
H R Murphy, R Bell, A Dornhorst, R Forde, N Lewis-Barned
Our aim was to review the data from the National Pregnancy in Diabetes (NPID) audit, and to identify the challenges and opportunities for improving pregnancy outcomes in women with diabetes. We reviewed three years of NPID data and relevant diabetes and obstetric literature, and found that there has been little change in pregnancy preparation or outcomes over the past 3 years, with substantial clinic-to clinic variations in care. Women with Type 2 diabetes remain less likely to take 5 mg preconception folic acid (22...
January 16, 2018: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29336406/quadricuspid-aortic-valve-a-rare-intraoperative-diagnosis-by-transesophageal-echocardiography
#20
Anupam Das, Ummed Singh, Palleti Rajashekar
Quadricuspid aortic valve (QAV) is a rare congenital anomaly frequently associated with other anomalies particularly coronary anomalies. It may be detected on transthoracic or transesophageal echocardiography. We present here a case report of a 27-year-old male patient with a QAV, the valve being regurgitant and requiring aortic valve replacement. It has been reported as isolated case reports in the literature and various theories exist to the development of QAV. The diagnosis requires a high degree of suspicion and a detailed assessment, and if asymptomatic, then patients need to be carefully followed up for the development of aortic regurgitation...
January 2018: Annals of Cardiac Anaesthesia
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