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Congenital malformations

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https://www.readbyqxmd.com/read/28530252/new-trends-in-rehabilitation-of-children-with-ent-disorders
#1
R Bovo, P Trevisi, E Zanoletti, D Cazzador, T Volo, E Emanuelli, A Martini
In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need rehabilitative care has progressively increased. Rehabilitation programs for paediatric patients with disorders of voice, speech and language, communication and hearing, deglutition and breathing are not widely available in hospital settings or in long-term care facilities...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28529809/aberrant-pancreatic-tissue-in-a-mediastinal-enteric-duplication-cyst-a-rarity-with-review-of-literature
#2
Meha Mansi, Nidhi Mahajan, Sonam Mahana, C R Gupta, Anup Mohta
Mediastinal enteric duplication cysts are a rare congenital malformation encountered mainly in neonates and infants. It is a distinct entity within the family of foregut duplication cysts. It can present with respiratory distress due to mass effect and hence surgical excision is the preferred treatment. Histologically, it is characterised by a double layered smooth muscle wall with intestinal lining epithelium. We report a case of mediastinal enteric duplication cyst with aberrant pancreatic tissue in a neonate due to its rarity and early presentation...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28529681/imaging-spectrum-of-spinal-dysraphism-on-magnetic-resonance-a-pictorial-review
#3
REVIEW
Jyoti Kumar, Muhammed Afsal, Anju Garg
Congenital malformations of spine and spinal cord are collectively termed as spinal dysraphism. It includes a heterogeneous group of anomalies which result from faulty closure of midline structures during development. Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for diagnosing these conditions. The purpose of this article is to review the normal development of spinal cord and spine and reviewing the MRI features of spinal dysraphism. Although imaging of spinal dysraphism is complicated, a systematic approach and correlation between neuro-radiological, clinical and developmental data helps in making the correct diagnosis...
April 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28528802/symptomatic-dengue-infection-during-pregnancy-and-livebirth-outcomes-in-brazil-2007-13-a-retrospective-observational-cohort-study
#4
Laura B Nascimento, Cláudio M Siqueira, Giovanini E Coelho, João B Siqueira
BACKGROUND: Dengue is a major public health challenge in Brazil. We assessed the relationship between symptomatic dengue infection during pregnancy and adverse birth outcomes in the country between 2007 and 2013. METHODS: We did a retrospective observational cohort study using information reported in the Brazilian national reportable disease information system (SINAN) and the livebirth information system (SINASC) databases. We probabilistically linked confirmed dengue-positive and dengue-negative pregnancies with live childbirths using Fine-Grained Record Integration and Linkage (FRIL) software...
May 18, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28527266/-risk-factors-associated-with-the-development-of-perinatal-asphyxia-in-neonates-at-the-hospital-universitario-del-valle-cali-colombia-2010-2011
#5
Javier Torres-Muñoz, Christian Rojas, Diana Mendoza-Urbano, Darly Marín-Cuero, Sandra Orobio, Carlos Echandía
INTRODUCTION: Perinatal asphyxia is one of the main causes of perinatal mortality and morbidity worldwide and it generates high costs for health systems; however, it has modifiable risk factors. OBJECTIVE: To identify the risk factors associated with the development of perinatal asphyxia in newborns at Hospital Universitario del Valle, Cali, Colombia. MATERIALS AND METHODS: Incident cases and concurrent controls were examined. Cases were defined as newborns with moderate to severe perinatal asphyxia who were older than or equal to 36 weeks of gestational age, needed advanced resuscitation and presented one of the following: early neurological disorders, multi-organ commitment or a sentinel event...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527042/parenting-stress-among-parents-of-children-with-congenital-diaphragmatic-hernia
#6
Elin Öst, Margret Nisell, Björn Frenckner, Carmen Mesas Burgos, Maria Öjmyr-Joelsson
PURPOSE: The aim of this study was to examine parental stress among parents of children with congenital diaphragmatic hernia (CDH). METHODS: Between 2005 and 2009, a total of 51 children with CDH were treated at Astrid Lindgren Children's Hospital. The survival rate at discharge was 86% and long-term survival rate 80%. One parent each of the long-term survivors (41 children) was included in the present study, and 34 parents (83%) agreed to participate. Participants received the Swedish Parenthood Stress Questionnaire (SPSQ)...
May 19, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28525510/zika-virus-obstetric-and-pediatric-anesthesia-considerations
#7
Jacqueline L Tutiven, Benjamin T Pruden, James S Banks, Mario Stevenson, David J Birnbach
As of November 2016, the Florida Department of Health (FDH) and the Centers for Disease Control and Prevention have confirmed more than 4000 travel-related Zika virus (ZIKV) infections in the United States with >700 of those in Florida. There have been 139 cases of locally acquired infection, all occurring in Miami, Florida. Within the US territories (eg, Puerto Rico, US Virgin Islands), >30,000 cases of ZIKV infection have been reported. The projected number of individuals at risk for ZIKV infection in the Caribbean and Latin America approximates 5 million...
June 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28523200/an-unusual-presentation-of-congenital-lobar-emphysema
#8
Daniel Arnaud, Joseph Varon, Salim Surani
Congenital lobar emphysema is an uncommon bronchopulmonary malformation characterized by lobar overinflation and accompanying alveolar septum damage that leads to compression atelectasis of the lung parenchyma and displacement of mediastinal structures, with the resultant ventilation-perfusion mismatch. We present a case of a 33-year-old lady with progressive exertional dyspnea. Chest radiograph findings lead to the suspicion of congenital lobar emphysema, which was then confirmed by a computed tomography (CT) scan...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28522665/nonmicrocephalic-infants-with-congenital-zika-syndrome-suspected-only-after-neuroimaging-evaluation-compared-with-those-with-microcephaly-at-birth-and-postnatally-how-large-is-the-zika-virus-iceberg
#9
M F V V Aragao, A C Holanda, A M Brainer-Lima, N C L Petribu, M Castillo, V van der Linden, S C Serpa, A G Tenório, P T C Travassos, M T Cordeiro, C Sarteschi, M M Valenca, A Costello
BACKGROUND AND PURPOSE: Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS: We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 year of age or younger. Patients with congenital Zika syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without microcephaly...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28518043/congenital-malformations-of-calves-infected-with-shamonda-virus-southern-japan
#10
Yoshimasa Hirashima, Shoei Kitahara, Tomoko Kato, Hiroaki Shirafuji, Shogo Tanaka, Tohru Yanase
In 2015 and 2016, we observed 15 malformed calves that were exposed to intrauterine infection with Shamonda virus, a Simbu serogroup orthobunyavirus, in Japan. Characteristic manifestations were arthrogryposis and gross lesions in the central nervous system. Our results indicate that this arbovirus should be considered a teratogenic virus in ruminants.
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#11
Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28515992/dermoscopy-of-cutaneous-lymphangioma-circumscriptum
#12
Abhijeet K Jha, Aimilios Lallas, Sidharth Sonthalia
Lymphangiomas are congenital lymphatic malformations. They are clinically characterized by clusters of translucent vesicles, and on dermoscopy, yellow lacunae surrounded by pale septa as well as reddish to bluish lacunae have been described. A young male presented with a seven-year history of a vesicular lesion. Dermoscopy revealed multiple white-yellowish well-circumscribed roundish areas (lacunae) surrounded by pale septa. A few lacunae contained blood, which was characteristically accumulated in the lowest part of the lacuna, resulting in an appearance similar to the so-called "hypopyon" of the eye...
April 2017: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/28515578/imaging-in-ductal-plate-malformations
#13
Binit Sureka, Archana Rastogi, Chhagan Bihari, Kishore G S Bharathy, Vikrant Sood, Seema Alam
Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic fibrosis may be seen. We present a radiological pictorial of ductal plate malformations, accurate diagnosis of which is important for clinical management.
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28513615/exome-sequencing-of-two-italian-pedigrees-with-non-isolated-chiari-malformation-type-i-reveals-candidate-genes-for-cranio-facial-development
#14
Elisa Merello, Lorenzo Tattini, Alberto Magi, Andrea Accogli, Gianluca Piatelli, Marco Pavanello, Domenico Tortora, Armando Cama, Zoha Kibar, Valeria Capra, Patrizia De Marco
Chiari malformation type I (CMI) is a congenital abnormality of the cranio-cerebral junction with an estimated incidence of 1 in 1280. CMI is characterized by underdevelopment of the occipital bone and posterior fossa (PF) and consequent cerebellar tonsil herniation. The presence for a genetic basis to CMI is supported by many lines of evidence. The cellular and molecular mechanisms leading to CM1 are poorly understood. The occipital bone formation is dependent on complex interactions between genes and molecules with pathologies resulting from disruption of this delicate process...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28513059/fluoxetine-and-congenital-malformations-a-systematic-review-and-meta-analysis-of-cohort-studies
#15
Shan-Yan Gao, Qi-Jun Wu, Tie-Ning Zhang, Zi-Qi Shen, Cai-Xia Liu, Xin Xu, Chao Ji, Yu-Hong Zhao
AIMS: To investigate the safety of fluoxetine use during pregnancy, and to better understand the relationship between maternal fluoxetine use during the first trimester and congenital malformations in infants. METHODS: PubMed and Web of Science databases were systematically searched from inception to 21 March 2016. Additional studies were identified in a manual search of the reference lists. Two reviewers independently extracted data. A third reviewer checked the data...
May 17, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28510777/anatomical-characterization-of-the-nasolacrimal-canal-based-on-computed-tomography-in-children-with-complex-congenital-nasolacrimal-duct-obstruction
#16
Chengyue Zhang, Gang Yu, Yanhui Cui, Qian Wu, Wenbin Wei
PURPOSE: To characterize anatomical variations of the nasolacrimal canal in patients with complex congenital nasolacrimal duct obstruction. METHODS: Retrospective case series of 25 children with congenital nasolacrimal duct obstruction. All children had failed probings and were examined by computed tomography. An analysis of imaging data is presented. RESULTS: Anomalous development of the nasolacrimal canal was confirmed on computed tomography...
May 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28510540/diagnosis-of-congenital-coarctation-of-the-aorta-and-accompany-malformations-in-infants-by-multi-detector-computed-tomography-angiography-and-transthoracic-echocardiography-a-chinese-clinical-study
#17
Fang Huang, Qiang Chen, Wen-Han Huang, Hong Wu, Wei-Cheng Li, Qing-Quan Lai
BACKGROUND The purpose of this study was to evaluate the utility of multi-detector computed tomography (MDCT) angiography and transthoracic echocardiography (TTE) in the diagnosis of congenital coarctation of the aorta (CoA) and accompanying malformations in infants. MATERIAL AND METHODS From January 2012 and December 2015, we enrolled 68 infants with clinically suspected CoA who underwent MDCT angiography and TTE in our hospital. Surgical correction was conducted to confirm the diagnostic accuracy of both examinations in all patients...
May 16, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28508879/oxidative-stress-and-male-infertility
#18
REVIEW
Shilpa Bisht, Muneeb Faiq, Madhuri Tolahunase, Rima Dada
DNA damage, largely owing to oxidative stress, is a leading cause of defective sperm function. High levels of oxidative stress result in damage to sperm DNA, RNA transcripts, and telomeres and, therefore might provide a common underlying aetiology of male infertility and recurrent pregnancy loss, in addition to congenital malformations, complex neuropsychiatric disorders, and childhood cancers in children fathered by men with defective sperm cells. Spermatozoa are highly vulnerable to oxidative stress owing to limited levels of antioxidant defence and a single, limited DNA-damage detection and repair mechanism...
May 16, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/28506578/-congenital-heart-disease-in-adolescents-and-adults-management-in-a-general-cardiology-department-in-senegal
#19
A Mbaye, M Bodian, A A Ngaïdé, H Abdourafiq, M C B O Leye, S Savodogo, F Aw, M Ndiaye, I Kouamé, K Babaka, M Dioum, N D Gaye, S A Sarr, M B Ndiaye, A D Kane, A Kane
BACKGROUND: Congenital heart diseases in adults include malformations treated in childhood that decompensate secondarily and those asymptomatic at birth, appear later. This study aims to identify congenital heart diseases in adults in general cardiology department of Senegal and to assess clinical presentations, treatment and outcomes. METHODS: We conducted a cross-sectional and descriptive study based on the records of patients aged at least 16 years and followed for congenital heart disease in the cardiology department of the General Hospital of Grand-Yoff in Dakar between May 2003 and March 2015...
May 12, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28505225/original-findings-and-updated-meta-analysis-for-the-association-between-maternal-diabetes-and-risk-for-congenital-heart-disease-phenotypes
#20
Thanh T Hoang, Lisa K Marengo, Laura E Mitchell, Mark A Canfield, A J Agopian
Maternal diabetes is associated with congenital heart defects (CHDs) as a group, but few studies have assessed risk for specific CHD phenotypes. We analyzed these relationships using data from the Texas Birth Defects Registry and statewide vital records for deliveries taking place in 1999-2009 (n = 48,249 cases). We used Poisson regression to calculate prevalence ratios for the associations between maternal diabetes (pregestational or gestational) and each CHD phenotype, adjusting for potential confounders...
May 13, 2017: American Journal of Epidemiology
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