keyword
MENU ▼
Read by QxMD icon Read
search

congenital anomalies

keyword
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#1
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#2
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#3
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29328036/-structure-and-risk-factors-for-congenital-malformations
#4
Y Uteuliyev, V Balkibekova, A Saktapov, K Konysbayeva, V Atarbayeva, N Iskakova
Congenital malformations and anomalies occupy leading positions in the structure of infant mortality and disability. In order to reduce the risk of children with these disorders, it is necessary to carefully study the causes of congenital malformations. In this connection, the structures and risk factors of congenital malformations of the fetus were studied and recommendations for the improvement of preventive measures were developed. When studying the structure of congenital malformations of the fetus in Almaty, hereditary and acquired causes of congenital malformation are identified...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29326865/rectal-atresia-and-congenital-hypothyroidism-an-association-or-coincidence
#5
Feride Mehmetoğlu
Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.
January 2018: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/29326834/ablation-of-atrial-fibrillation-in-patients-with-congenital-heart-disease
#6
Marwan M Refaat, Jad Ballout, Moussa Mansour
With improved surgical techniques and medical management for patients with congenital heart diseases, more patients are living longer and well into adulthood. This improved survival comes with a price of increased morbidity, mainly secondary to increased risk of tachyarrhythmias. One of the major arrhythmias commonly encountered in this subset of cardiac patients is AF. Similar to the general population, the risk of AF increases with advancing age, and is mainly secondary to the abnormal anatomy, abnormal pressure and volume parameters in the hearts of these patients and to the increased scarring and inflammation seen in the left atrium following multiple surgical procedures...
December 2017: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/29326774/the-burden-of-truncus-arteriosus-in-an-urban-city-in-africa-how-are-we-fairing
#7
Barakat Adeola Animasahun, Aminat Titilayo Ogunlana, Henry Olusegun Gbelee
Background: The true incidence of truncus arteriosus in underdeveloped countries is difficult to determine. This is due largely to underreporting as a result of nonavailability of technologically advanced facilities to make definitive diagnosis prenatally. There is a lack of data on the profile and outcome of patients with persistent truncus arteriosus (PTA) in Nigeria. This study aims to document the demographic characteristics, mode of presentation, indications for echocardiography, associated anomalies, average age at diagnosis, and outcome of patients with truncus arteriosus in our center...
October 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/29326158/reciprocal-spatiotemporally-controlled-apoptosis-regulates-wolffian-duct-cloaca-fusion
#8
Masato Hoshi, Antoine Reginensi, Matthew S Joens, James A J Fitzpatrick, Helen McNeill, Sanjay Jain
The epithelial Wolffian duct (WD) inserts into the cloaca (primitive bladder) before metanephric kidney development, thereby establishing the initial plumbing for eventual joining of the ureters and bladder. Defects in this process cause common anomalies in the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). However, developmental, cellular, and molecular mechanisms of WD-cloaca fusion are poorly understood. Through systematic analysis of early WD tip development in mice, we discovered that a novel process of spatiotemporally regulated apoptosis in WD and cloaca was necessary for WD-cloaca fusion...
January 11, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29326113/acute-heart-failure-with-new-onset-continuous-murmur-in-a-26-year-old-man
#9
Yi-Chen Wang, Chen-Wei Huang, Ting-Wei Lin
CLINICAL INTRODUCTION: A 26-year-old man with an unremarkable medical history sensed a momentary retrosternal 'pop' followed by overwhelming dyspnoea, without reporting any prodromal symptoms. At the emergency department, he had a significant tachycardia (170 bpm) and an extreme low diastolic blood pressure (<30 mm Hg). A loud, harsh and continuous murmur could be maximally auscultated at the right lower sternal border. ECG revealed global ST depression with ST elevation in lead aVR...
January 11, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29326110/contemporary-management-and-outcomes-in-congenitally-corrected-transposition-of-the-great-arteries
#10
REVIEW
Shelby Kutty, David A Danford, Gerhard-Paul Diller, Oktay Tutarel
Congenitally corrected transposition of the great arteries (ccTGA) can occur in isolation, or in combination with other structural cardiac anomalies, most commonly ventricular septal defect, pulmonary stenosis and tricuspid valve disease. Clinical recognition can be challenging, so echocardiography is often the means by which definitive diagnosis is made. The tricuspid valve and right ventricle are on the systemic arterial side of the ccTGA circulation, and are therefore subject to progressive functional deterioration...
January 11, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#11
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
January 8, 2018: Surgery
https://www.readbyqxmd.com/read/29325773/how-safe-is-metformin-when-initiated-in-early-pregnancy-a-retrospective-5-year-study-of-pregnant-women-with-gestational-diabetes-mellitus-from-india
#12
Vanlalhruaii, Riddhi Dasgupta, Roshna Ramachandran, Jiji E Mathews, Annie Regi, Niranjan Thomas, Vijay Gupta, P Visalakshi, H S Asha, Thomas Paul, Nihal Thomas
BACKGROUND: The initiation of metformin in early pregnancy in Gestational Diabetes mellitus(GDM) remains controversial. The aim of our study was to assess the influence of Metformin on maternal and fetal outcomes when initiated within the first trimester of pregnancy in GDM. METHODS AND MATERIALS: A retrospective analysis of 540 women with diabetes complicating pregnancy (IADPSG criteria) over five years(January 2011 to May 2016)was done. The study population comprised of patients initiated on a)metformin within the first trimester (Group A:n=186),b) metformin after the first trimester(Group B:n=203) and c)insulin at any time during their pregnancy(Group C:n=151)...
January 8, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29325387/-clinical-effects-of-pediatric-penetrating-keratoplasty-for-congenital-corneal-opacity
#13
S W Li, C Liu, T H Chen, J H Ning, T Zhang, F J Lyu, M Xu
Objective: To report the clinical results of pediatric penetrating keratoplasty (PKP) in patients under 3 years old with congenital corneal opacity. Methods: Retrospective study. Sixteen eyes of 12 patients who were treated with PKP in Aier Eye Hospital Group from June 2009 to December 2016 were enrolled in this study. All the patients were diagnosed as congenital corneal opacities: 8 cases (11 eyes) with Peter's anomaly I, 2 cases (3 eyes) with sclerocornea, and 2 cases (2 eyes) with corneal dermoid tumor combined with iris synechia...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29324912/diuresis-renography-and-ultrasonography-in-children-with-antenatally-detected-hydronephrosis-can-support-diagnoses-and-suggest-related-surgery-treatment
#14
M Radulović, S Beatović, M Janković, Dragana Šobić-Šaranović, Vera Artiko, Boris Ajdinović
OBJECTIVE: Prenatal ultrasound (US) screening detects the hydronephrosis (HN)-dilatation of fetal renal collecting system in 1%-5% of all pregnancies. In most children, HN is detected by prenatal US screening between 18-20 gestational week. Pelvi- ureteric junction (PUJ) stenosis is the most common etiological factor of prenatal HN and requires postnatal follow-up. Diuresis renography plays important role in the follow-up by complementing morphological information obtained by US with the data about differential renal function (DRF) and drainage...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29324630/perforated-meckel-diverticulum-a-rare-cause-of-acute-abdomen-in-children
#15
Saurabh Talathi, David Kelly, Scott Anderson, Yoginder Vaid, Jose Mestre
Meckel diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract and the most common cause of gastrointestinal bleeding in children. Although it usually follows the rule of 2's, exceptions to this rule are reported in the literature. Often asymptomatic, MD is commonly an incidental finding during surgical interventions. When symptomatic, the most common presentation of this condition is painless rectal bleeding. A myriad of other nonspecific symptoms are however possible, especially in adults, thus making this diagnosis difficult...
January 11, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29324373/abdominal-ct-aided-diagnosis-of-acute-appendicitis-in-the-presence-of-mobile-cecum-a-case-report
#16
Kentaro Yazawa, Yuki Azuma, Tomohiro Kurokawa, Yuichiro Yoshioka, Giichiro Tsurita, Masaru Shinozaki
INTRODUCTION: A mobile cecum is a frequently encountered congenital anomaly. It is important to recognize this atypical position of the cecum as it may interfere with an accurate diagnosis of acute appendicitis. PRESENTATION OF CASE: A 48-year-old man presented with abdominal pain, anorexia, and fever. He had mild lower abdominal discomfort, and rebound tenderness in the suprapubic region, but no guarding or right lower quadrant findings. Laboratory tests identified an elevated white blood cell count (12350 cells/mL) and C-reactive protein level (4...
December 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29322637/maternal-exposures-and-risk-of-oral-clefts-in-south-vietnam
#17
Vu H A Dien, Christy M McKinney, Araya Pisek, Waranuch Pitiphat
BACKGROUND: Oral clefts are among the most common congenital anomalies. Most studies on risk factors of oral clefts have been carried out in developed countries. We investigated the associations between maternal exposures in the first trimester and oral clefts in South Vietnam. METHODS: We conducted a hospital-based case-control study during October 2014-November 2015. Cases included 170 patients with nonsyndromic cleft lip with or without cleft palate and those with cleft palate only...
January 11, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29321944/myelomeningocele-with-unilateral-right-renal-agenesis-a-case-report
#18
Hajime Maeda, Hayato Go, Jun Sakuma, Takashi Imamura, Maki Sato, Nobuo Momoi, Mitsuaki Hosoya
Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, unilateral right renal agenesis represented a significant surgical risk because failure of the remaining kidney could result in renal failure...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29321841/reversed-gender-ratio-of-autism-spectrum-disorder-in-smith-magenis-syndrome
#19
Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland
Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#20
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
keyword
keyword
82359
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"