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Congenital malformation

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https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#1
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28537946/gastrointestinal-manifestations-of-pelvic-floor-disorders-in-adolescents-a-diagnostic-framework-for-the-general-practitioner
#2
Anita Kochikar Pai, Sonia Arora Ballal
PURPOSE OF REVIEW: Pelvic floor disorders (PFDs) can present with gastrointestinal complaints in the adolescent patient, and identification of PFDs is aided by clues in the history and physical examination apparent to the knowledgeable clinician. The aim of this article is to provide a framework for the diagnostic evaluation of the adolescent patient with a PFD and introduce management strategies. RECENT FINDINGS: Patients with PFDs can present with gastrointestinal symptoms, including abdominal pain, constipation, incomplete evacuation, and fecal incontinence or nongastrointestinal complaints around genitourinary symptoms or sexual health...
May 19, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28537936/zidovudine-use-in-pregnancy-and-congenital-malformations-meta-analysis-and-bayesian-incorporation-of-medicaid-data
#3
Kathryn Rough, Jenny W Sun, George R Seage, Paige L Williams, Krista F Huybrechts, Brian T Bateman, Sonia Hernandez-Diaz
OBJECTIVE: There is inconsistent evidence that zidovudine use during pregnancy increases overall, cardiac, and male genital malformations. DESIGN: We conducted a systematic review and meta-analysis of zidovudine use and malformations and, using Bayesian methods, combined it with data from a cohort study of mother-infant pairs in the nationwide Medicaid Analytic eXtract (MAX). METHODS: Using MAX data (2000-2010), we identified pregnant women with HIV treated with antiretroviral therapy (ART)...
May 23, 2017: AIDS
https://www.readbyqxmd.com/read/28534165/-the-german-research-network-cure-net-a-benefit-for-patients-with-rare-diseases
#4
REVIEW
A-K Ebert
With the help of the media, there is growing public awareness for the problems associated with rare diseases and their impact on the lives of those affected and their families. Bladder exstrophy-epispadias complex (BEEC) is also a part of the group of rare diseases within the urological field. The German network CURE-Net was founded in 2009 to systematically collect data regarding the epidemiological and molecular causes, and clinical and psychosocial effects of congenital urorectal malformations. With the help of self-help groups a national registry could be established for systematic data retrieval...
May 22, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28533990/anomalous-origin-of-right-coronary-artery-originating-from-the-pulmonary-trunk-arcapa-an-incidental-finding-in-a-patient-presenting-with-chest-pain
#5
Pragathi Balakrishna, Michael Illovsky, Youssef M Al-Saghir, Abdul M Minhas
Anomalous origin of the right coronary artery originating from the pulmonary trunk (ARCAPA) is a rare congenital coronary anomaly with an estimated prevalence of 0.002%. Most patients are asymptomatic and the anomaly is detected incidentally during evaluation for other problems. Occasionally, ARCAPA may lead to myocardial ischemia and/or sudden cardiac arrest. We present a case of a 55-year-old female with a history of hypertension who presented to the emergency department with intermittent chest discomfort for three days...
April 17, 2017: Curēus
https://www.readbyqxmd.com/read/28533829/clinical-analysis-of-aqueductal-stenosis-in-patients-with-hydrocephalus-in-a-kenyan-setting
#6
Loyal Poonamjeet Kaur, Nderitu Joseph Munyiri, Wekesa Vincent Dismus
INTRODUCTION: Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. METHODS: In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28530252/new-trends-in-rehabilitation-of-children-with-ent-disorders
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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