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Congenital defects

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https://www.readbyqxmd.com/read/29228280/new-intronic-fibroblast-growth-factor-receptor-1-fgfr1-mutation-leading-to-disrupted-splicing-and-kallmann-syndrome
#1
J Känsäkoski, K Vaaralahti, T Raivio
Congenital hypogonadotropic hypogonadism (CHH), which can present with a defective sense of smell (Kallmann syndrome, KS), is a clinically and genetically heterogeneous disorder. Over 31 genes have been associated with CHH, but most of the patients still lack a molecular genetic diagnosis. Some cases may be explained by mutations that disrupt the splicing of already established CHH genes but that are unrecognized either because they are located deep in introns or are not predicted to disrupt splicing. Here we identified a patient with a previously unreported Fibroblast Growth Factor Receptor 1 (FGFR1) mutation, c...
December 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29227270/-clinical-characteristics-of-congenital-heart-diseases-associated-with-connective-tissue-displasia-at-children-living-in-east-region-of-kazakhstan
#2
M Madiyeva, T Rymbayeva
The frequency of the combination of congenital heart defects (CHD) and connective tissue dysplasia remains poorly understood. And connective tissue dysplasia enhance severity the clinical of CHD. The aim of the study was to conduct a clinical and laboratory analysis of combinations of congenital heart defects and connective tissue dysplasia in children of Semey and to determine the risk for the development of these pathologies. The object of the study is the children of Semey (East Kazakhstan) aged 1-14 with congenital heart defects (CHD), with connective tissue dysplasia, healthy children and their mothers...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29227269/reye-ray-s-syndrome-a-problem-everyone-should-remember
#3
I Chornomydz, O Boyarchuk, A Chornomydz
Reye syndrome is a rare but a very dangerous emergency that children and teenagers suffer. This threatening condition occurs during the treatment of fever in the clinical course of viral diseases with drugs containing acetylsalicylic acid and other salicylates. The high mortality rate from this disease is associated with the development of a rapidly progressing toxic encephalopathy and hepatic insufficiency. The etiology and pathogenesis of the Reye syndrome, despite the large number of investigations, is not clear enough...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29226752/influence-of-time-of-delivery-on-risk-of-adverse-neonatal-outcome-in-different-size-of-delivery-units-a-retrospective-cohort-study-in-finland
#4
Elina Karalis, Mika Gissler, Anna-Maija Tapper, Veli-Matti Ulander
PURPOSE: To evaluate the impact of time of birth on adverse neonatal outcome in singleton term hospital births. MATERIALS AND METHODS: Medical Birth Register Data in Finland from 2005 to 2009. Study population was all hospital births (n = 263 901), excluding multiple pregnancies, preterm births < 37 weeks, major congenital anomalies or birth defects, and antepartum stillbirths. Main outcome measures were either 1-minute Apgar score 0-3, 5-minute Apgar score 0-6, or umbilical artery pH < 7...
December 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29226181/a-bioreactor-method-to-generate-high-titer-genetically-stable-clinical-isolate-human-cytomegalovirus
#5
Victoria R Saykally, Luke I Rast, Jeff Sasaki, Seung-Yong Jung, Cynthia Bolovan-Fritts, Leor S Weinberger
Human cytomegalovirus (HCMV) infection is a major cause of morbidity and mortality in transplant patients and a leading cause of congenital birth defects (Saint Louis, 2016). Vaccination and therapeutic studies often require scalable cell culture production of wild type virus, represented by clinical isolates. Obtaining sufficient stocks of wild-type clinical HCMV is often labor intensive and inefficient due to low yield and genetic loss, presenting a barrier to studies of clinical isolates. Here we report a bioreactor method based on continuous infection, where retinal pigment epithelial (ARPE-19) cells adhered to microcarrier beads are infected in a bioreactor and used to produce high-titers of clinical isolate HCMV that maintain genetic integrity of key viral tropism factors and the viral genome...
November 5, 2017: Bio-protocol
https://www.readbyqxmd.com/read/29225990/cholecystectomy-of-an-intrahepatic-gallbladder-in-an-ectopic-pelvic-liver-a-case-report-and-review-of-the-literature
#6
Rachel Mathis, Joshua Stodghill, Timothy Shaver, George Younan
Introduction: Ectopic pelvic liver is an exceedingly rare condition usually resulting after repair of congenital abdominal wall defects. Intrahepatic gallbladder is another rare condition predisposing patients to cholelithiasis and its sequelae. We describe a cholecystectomy in a patient with an intrahepatic gallbladder in a pelvic ectopic liver. Presentation of Case: A 33-year-old woman with a history of omphalocele repair as an infant presented with signs and symptoms of symptomatic cholelithiasis and chronic cholecystitis, however, in an unusual location...
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/29224925/incidence-and-clinical-characteristics-of-sudden-cardiac-death-in-adult-congenital-heart-disease
#7
Benjamin Moore, Christopher Yu, Irina Kotchetkova, Rachael Cordina, David S Celermajer
BACKGROUND: The life expectancy of adults with congenital heart disease (CHD) has significantly improved in recent decades, with non-cardiovascular causes of death now competing with traditional cardiovascular causes. The risk of sudden cardiac death (SCD), a devastating event, still remains elevated above that of the general population. METHODS: We reviewed 2935 patients in our adult CHD database (age≥16years, seen at least once in our centre) and documented all cases of SCD between 2000-2015...
December 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29224249/pili-annulati-in-a-case-of-rothmund-thomson-syndrome-with-a-novel-frameshift-mutation-in-recql4
#8
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterised by erythematous patches or plaques and sometimes swelling and blisters, which appear during infancy on photo-exposed sites, usually the cheeks, then progress to poikiloderma. Other features include gastrointestinal disturbance, short stature, sparse scalp hair/eyebrows/eyelashes, skeletal abnormalities, juvenile cataracts, hypogonadism and a susceptibility to malignancy. Two forms have been described: Type I, characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, negative for the RECQL4 mutation, and Type II, with poikiloderma, congenital bone defects and increased risk of osteosarcoma related to deleterious RECQL4 mutations...
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29222728/fetal-electrocardiogram-extraction-and-analysis-using-adaptive-noise-cancellation-and-wavelet-transformation-techniques
#9
P Sutha, V E Jayanthi
Birth defect-related demise is mainly due to congenital heart defects. In the earlier stage of pregnancy, fetus problem can be identified by finding information about the fetus to avoid stillbirths. The gold standard used to monitor the health status of the fetus is by Cardiotachography(CTG), cannot be used for long durations and continuous monitoring. There is a need for continuous and long duration monitoring of fetal ECG signals to study the progressive health status of the fetus using portable devices. The non-invasive method of electrocardiogram recording is one of the best method used to diagnose fetal cardiac problem rather than the invasive methods...
December 8, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#10
REVIEW
Patrizia Noris, Alessandro Pecci
The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222094/case-based-discussion-from-the-neonatal-intensive-care-unit-a-case-of-an-intentional-oesophageal-intubation
#11
Katharine Jamieson, Stephanie Boyd, Susern Tan, Davina Wong, Paul James, Andrew Durward, Andrew Nyman
Tracheal agenesis (TA) is a rare congenital defect consisting of complete or partial absence of the trachea below the larynx. Antenatal diagnosis is challenging, and most cases are detected in the postnatal period. Airway management of such cases, particularly in the absence of antenatal diagnosis, can be challenging. Various methods of management have been described but with limited success, and overall prognosis remains very poor. We present an unexpected case of TA, highlighting management issues and diagnostic methods...
December 8, 2017: Thorax
https://www.readbyqxmd.com/read/29222010/a-novel-nr2f2-loss-of-function-mutation-predisposes-to-congenital-heart-defect
#12
Xiao-Hui Qiao, Qian Wang, Juan Wang, Xing-Yuan Liu, Ying-Jia Xu, Ri-Tai Huang, Song Xue, Yan-Jie Li, Min Zhang, Xin-Kai Qu, Ruo-Gu Li, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial genetic heterogeneity. In this study, the coding exons and splicing boundaries of the NR2F2 gene, which encodes a pleiotropic transcription factor required for normal cardiovascular development, were sequenced in 168 unrelated patients with CHD, and a novel mutation (c...
December 5, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29222009/redefining-the-phenotypic-spectrum-of-de-novo-heterozygous-cdk13-variants-three-patients-without-cardiac-defects
#13
Tomoko Uehara, Toshiki Takenouchi, Rika Kosaki, Kenji Kurosawa, Seiji Mizuno, Kenjiro Kosaki
Recently, 7 patients with de novo constitutional non-synonymous mutations in the CDK13 gene were ascertained through a trio exome analysis of a large cohort of 610 patients with congenital cardiac diseases. Despite another report describing 9 additional patients, the clinical spectrum of this condition has yet to be defined. Herein, we report 3 patients with heterozygous constitutional CDK13 mutations, who were ascertained through exome analysis of children with intellectual disability and minor anomalies, who lacked cardiac anomalies...
December 5, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29221765/advances-in-fetal-echocardiography
#14
REVIEW
Helena M Gardiner
The development of fetal echocardiography and success in prenatal cardiac screening programs over the past 30 years has been driven by technical innovation and influenced by the different approaches of the various specialties practicing it. Screening for congenital heart defects no longer focuses on examining a limited number of pregnant women thought to be at increased risk, but instead forms an integrated part of a high-quality anatomical ultrasound performed in the second trimester using the 'five-transverse view' protocol...
December 5, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29218069/down-syndrome-genetics-and-cardiogenetics
#15
Vasilica Plaiasu
During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21...
September 2017: Mædica
https://www.readbyqxmd.com/read/29218017/six2-plays-an-intrinsic-role-in-regulating-proliferation-of-mesenchymal-cells-in-the-developing-palate
#16
Dennis O Okello, Paul P R Iyyanar, William M Kulyk, Tara M Smith, Scott Lozanoff, Shaoping Ji, Adil J Nazarali
Cleft palate is a common congenital abnormality that results from defective secondary palate (SP) formation. The Sine oculis-related homeobox 2 (Six2) gene has been linked to abnormalities of craniofacial and kidney development. Our current study examined, for the first time, the specific role of Six2 in embryonic mouse SP development. Six2 mRNA and protein expression were identified in the palatal shelves from embryonic days (E)12.5 to E15.5, with peak levels during early stages of palatal shelf outgrowth...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29216221/copy-number-variants-in-ebstein-anomaly
#17
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills
BACKGROUND: Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE: We performed a population-based study to search for recurrent and novel CNVs in a previously unreported set of EA cases...
2017: PloS One
https://www.readbyqxmd.com/read/29215515/isolated-absent-thelarche-in-a-patient-with-neurofibromatosis-type-1-and-acromegaly
#18
Anne E Martini, Jessica R Zolton, Alan H DeCherney
BACKGROUND: Isolated absent thelarche is a rare condition that is infrequently reviewed in the literature. CASE: A 28-year-old woman with neurofibromatosis type 1 and acromegaly presented with absent breast development despite hormone therapy. Examination noted a normally developed woman with acromegalic features and Tanner stage I breasts. Hormone studies and karyotype were normal. Magnetic resonance imaging of the patient's brain demonstrated a voluminous pituitary...
December 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29215158/congenital-diaphragmatic-hernia-with-heart-defect-has-a-high-risk-for-hypoplastic-left-heart-syndrome-and-major-extra-cardiac-malformations-10-year-national-cohort-from-finland
#19
Johanna Hautala, Emma Karstunen, Annukka Ritvanen, Risto Rintala, Ilkka P Mattila, Juha Räsänen, Pertti K Suominen, Tiina Ojala
INTRODUCTION: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. MATERIAL AND METHODS: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies...
December 7, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29214893/educational-dvd-for-parents-of-children-with-congenital-heart-disease-a-pilot-study
#20
Derrick H Z Ha, Margaret Hay, Samuel Menahem
Parental knowledge regarding their child's congenital heart defect (CHD) is limited. This study developed and evaluated an interactive DVD that helped parents to understand their child's CHD. A DVD describing four cardiac abnormalities was created using videos and Adobe Flash. The parents' knowledge was assessed via a questionnaire before and after receiving the DVD. A control group did not receive the DVD. The DVDs were successfully created and improved the parental knowledge of their child's cardiac anomaly...
December 7, 2017: Journal of Visual Communication in Medicine
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