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Congenital malformations

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https://www.readbyqxmd.com/read/28917584/pneumatoceles-in-pediatric-blunt-trauma-common-and-benign
#1
Lindsey B Armstrong, David P Mooney
INTRODUCTION: Traumatic pneumatoceles are reported to be rare in children and to have an uncertain clinical significance. We report a single institution series of traumatic pneumatoceles to better define their frequency and clinical significance. METHODS: After obtaining approval from the IRB, data were extracted from the trauma registry of a level 1 pediatric trauma center on children diagnosed with a pulmonary contusion (International Classification of Diseases-9th edition diagnosis codes: 861...
August 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28916763/maternal-diabetes-causes-developmental-delay-and-death-in-early-somite-mouse-embryos
#2
Jing Zhao, Theodorus B M Hakvoort, Jan M Ruijter, Aldo Jongejan, Jan Koster, Sigrid M A Swagemakers, Aleksandar Sokolovic, Wouter H Lamers
Maternal diabetes causes congenital malformations and delays embryonic growth in the offspring. We investigated effects of maternal diabetes on mouse embryos during gastrulation and early organogenesis (ED7.5-11.5). Female mice were made diabetic with streptozotocin, treated with controlled-release insulin implants, and mated. Maternal blood glucose concentrations increased up to embryonic day (ED) 8.5. Maternal hyperglycemia induced severe growth retardation (approx.1 day) in 53% of the embryos on ED8.5, death in most of these embryos on ED9...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915526/-exit-a-possible-intervention-for-new-and-earlyborn-babies-with-severe-hydrops-fetalis-and-hydrothoraces-on-both-sides
#3
Sandra Koch, Jochen Essers, Ortraud Beringer, Frank Reister, Helmut Hummler, Anja Moewes
The EXIT (ex utero intrapartum treatment) procedure is an established method of respiratory protection, originally used in the delivery of fetuses with congenital obstructive airway diseases (tumors in the throat area, hygromas, so-called congenital high airway obstruction syndrome (CHAOS)). Meanwhile, the procedure is also carried out in large perinatal centers for pronounced diaphragmatic hernia or other special indications (EXIT to ECMO, congenital lung airway malformations (CCAM), pulmonary atresia). We present our experience with adapted EXIT procedures in 5 preterm infants with secondary generalized hydrops fetalis and pronounced bilateral hydrothoraces...
September 15, 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28915123/placental-examination-in-nonmacerated-stillbirth-versus-neonatal-mortality
#4
Jerzy Stanek
AIM: To retrospectively statistically compare clinical and placental phenotypes of nonmacerated fetuses and live-born perinatal deaths in 3rd trimester pregnancies. METHODS: Twenty-five clinical and 47 placental phenotypes were statistically compared among 93 cases of nonmacerated (intrapartum, or recent antepartum death) 3rd trimester fetal deaths (Group 1), 118 3rd trimester neonatal deaths (Group 2) and 4285 cases without perinatal mortality (Group 3). RESULTS: Sixteen clinical and placental phenotypes were statistically significantly different between Group 3 and the two groups of perinatal deaths, which included eight placental phenotypes of fetal vascular malperfusion and eight other placental phenotypes of various etiology (amnion nodosum, 2-vessel umbilical cord, villous edema, increased extracellular matrix of chorionic villi, erythroblasts in fetal blood and trophoblastic lesions of shallow placentation)...
September 18, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28913305/treatment-of-tongue-lymphangioma-with-intralesional-combination-injection-of-steroid-bleomycin-and-bevacizumab
#5
Jungil Hwang, Yung Ki Lee, Jin Sik Burm
Lymphangioma is a congenital malformed lymphatic tumor that rarely involves the tongue. In our clinic, a 10-year-old female presented with lymphangioma circumscriptum involving the right two-thirds of the tongue. We administered an intralesional combination injection of triamcinolone, bleomycin, and bevacizumab as a treatment. Almost complete remission after combination therapy was achieved without complications such as edema, swallowing difficulties or recurrence. Bevacizumab, an inhibitor of vascular endothelial growth factor, was effective for the treatment of lymphangioma of the tongue in this case...
March 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28912723/increased-hemodynamic-load-in-early-embryonic-stages-alters-myofibril-and-mitochondrial-organization-in-the-myocardium
#6
Madeline Midgett, Claudia S López, Larry David, Alina Maloyan, Sandra Rugonyi
Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease (CHD). However, the detrimental remodeling processes that relate altered blood flow to cardiac malformation and defects remain unclear. Heart development is a finely orchestrated process with rapid transformations that occur at the tissue, cell, and subcellular levels. Myocardial cells play an essential role in cardiac tissue maturation by aligning in the direction of stretch and increasing the number of contractile units as hemodynamic load increases throughout development...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28910893/-pediatric-laryngeal-clefts-an-experience-in-the-diagnosis-and-management-of-13-cases
#7
Z B Wu, L Li, H G Pan, Z J Liang, Z X Xian, D L Zhang, Y S Teng, X Y Ma
Objective: To investigate the diagnosis and management of laryngeal cleft. Method: The clinical data of 13 cases of laryngeal cleft treated between 2007 and 2015 was analyzed retrospectively. Results: The children with laryngeal cleft were classified according to the classification of Benjamin-Inglis, as type Ⅰ(11 cases), typeⅡ(1 case) and type Ⅲ(1 case). All patients were confirmed by microlaryngobronchoscopy under general anaesthetic. Eleven typeⅠ and 1 type Ⅱ clefts were managed conservatively, with which all type Ⅰ patients were successfully managed, while the type Ⅱ patient was resolved by surgical endoscopy...
September 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28910364/surge-of-immune-cell-formation-at-birth-differs-by-mode-of-delivery-and-infant-characteristics-a-population-based-cohort-study
#8
Titus Schlinzig, Stefan Johansson, Olof Stephansson, Lennart Hammarström, Rolf H Zetterström, Ulrika von Döbeln, Sven Cnattingius, Mikael Norman
BACKGROUND: Birth by cesarean section is associated with increased risks of immune disorders. We tested whether establishment of immune function at birth relates to mode of delivery, taking other maternal and infant characteristics into account. METHODS AND FINDINGS: Using a prospectively collected database, we retrieved information on maternal and infant characteristics of 6,014 singleton infants delivered from February to April 2014 in Stockholm, Sweden, with gestational age ≥35 weeks, Apgar scores ≥7, and without congenital malformations or any neonatal morbidity...
2017: PloS One
https://www.readbyqxmd.com/read/28904923/congenital-cyst-adenoid-malformation-masquerading-as-bronchial-asthma
#9
Jagdish Prasad Goyal, Shishir Jindal, Mayank Mishra, Bhanu Kiran Bhakhri
Congenital cyst adenoid malformation (CCAM) is a rare congenital malformation occurring in approximately 1-4 in 100,000 births. It is classified into five subtypes with type 1 CCAM is most common subtype. The diagnosis of CCAM is usually made in infancy, and it is rare in adolescents and adults. We report a 15-year-old female, who presented in pediatric outpatient department with a history of recurrent cough since infancy. On the basis of clinical examination, provisional diagnosis of asthma was considered and patient was started on inhaled corticosteroid and long-term β2 agonist...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904674/-a-rare-cause-of-exertional-dry-cough-agenesis-of-the-left-pulmonary-artery-associated-with-pulmonary-hypoplasia
#10
Azzeddine Laaraje, Naima El Hafidi, Chafik Mahraoui
Agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung is a rare congenital malformation in children; it can be discovered fortuitously or because of the presence of recurrent respiratory infections. Diagnosis is based on thoracic angioscanner. Treatment is essentially conservative. We report the case of a 6-year old child with agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung detected because of exertional dry cough.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28902645/-a-rare-cause-of-cyanosis-in-childhood-pulmonary-arteriovenous-malformation
#11
Osman Güvenç, Murat Saygı, İbrahim Halil Demir, Ender Ödemiş
Pulmonary arteriovenous malformation, which is defined as the presence of an ab-normal connection between the pulmonary artery and pulmonary vein, is rarely seen. Although it generally presents as a congenital condition, it may be accompanied by hereditary hemorrhagic telangiectasia. Clinical signs vary according to the amount of shunt in proportion to the number and size of the fistulae. Patients may present with cyanosis and respiratory trouble. If the disease remains untreated, it may result in cardiac failure and ineffective endocarditis, thereby leading to the rupture of the an-eurysmal fistula...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28898312/-analysis-of-risk-factors-for-neonatal-death-in-chile-2010-2014
#12
Gemita Manríquez P, Carlos Escudero O
AIM: To analyze socio-demographic as maternal and newborn factors associated with neonatal mortality in a tertiary hospital in Chile. PATIENTS AND METHOD: A retrospective analysis of case (neonatal death) and control (live births) was performed. A match 1:2 proportion considering year, month of birth and gender was made. By reviewing medical records and existing databases, we analyzed sociodemographic and pathophysiological variables of the mother and their newborn in a period between 2010 and 2014...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28898181/subfertility-what-the-radiologist-needs-to-know
#13
Saranya Vickramarajah, Victoria Stewart, Katherine van Ree, Anne P Hemingway, Mary E Crofton, Nishat Bharwani
The role of imaging in subfertility is well established but is changing. In addition to traditional fertility assessments, there is an emerging role for the radiologist. The role of imaging in fertility-restoring procedures in benign disease and congenital malformations is evolving, and there is a growing need for accurate identification of young candidates suitable for fertility-preserving surgery in the oncologic setting. To facilitate this developing role, knowledge of the key imaging modalities used and potential therapeutic applications is important for accurate diagnosis and interpretation by the radiologist...
September 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28894896/-hypospadias-insights-and-challenges
#14
I Rübben, R Stein
Disorders of the ventral tubularization of the urethra, such as the hypospadias, are among the second most frequent congenital childhood malformations. An increasing incidence has been observed suggesting a doubling in the US, which could not be documented for the European area. The underlying causes of this congenital defect remain unidentified. Genetic risk constellations or environmental influences, in particular by so-called endocrine disrupting chemicals (EDCs), are discussed as triggering factors. Boys after in vitro fertilization are more likely to have hypospadias than in nonreproductive-assisted pregnancies...
September 11, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28893526/neural-correlates-of-working-memory-in-children-and-adolescents-with-agenesis-of-the-corpus-callosum-an-fmri-study
#15
V Siffredi, M M Spencer-Smith, P Barrouillet, M J Vaessen, R J Leventer, V Anderson, P Vuilleumier
The ability to temporarily maintain relevant information in mind in the presence of interference or distracting information, also called working memory (WM), is critical for higher cognitive functions and cognitive development. In typically developing (TD) children, WM is underpinned by a fronto-parietal network of interacting left and right brain regions. Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation...
September 9, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28893484/-renal-abnormalities-in-down-syndrome-a-review
#16
C Niamien-Attai, J Bacchetta, B Ranchin, D Sanlaville, P Cochat
Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28892921/a-rare-case-of-genital-malformation-with-omphalocele-exstrophy-of-bladder-imperforate-anus-and-spinal-defect-complex-autopsy-findings
#17
K Mamatha, B R Yelikar, Varsha R Deshpande, B S Disha
Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4(th) week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28890889/a-novel-missense-mutation-in-the-aldh13-gene-causes-anophthalmia-in-two-unrelated-iranian-consanguineous-families
#18
Mohammadreza Dehghani, Masoud Dehghan Tezerjani, Zahra Metanat, Mohammad Yahya Vahidi Mehrjardi
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members of two families in which three individuals are suffering from severe bilateral anophthalmia. The genetic analysis revealed a novel missense c...
2017: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#19
H El Mhabrech, H Ben Hmida, H Charfi, A Zrig, C Hafsa
Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects...
September 7, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28889774/vaginal-breech-delivery-at-term-and-neonatal-morbidity-and-mortality-a-population-based-cohort-study-in-sweden
#20
C Ekéus, M Norman, K Åberg, S Winberg, K Stolt, A Aronsson
INTRODUCTION: The routine to deliver almost all term breech cases by elective cesarean section (CS) has continued to be debated due to the risk of maternal and neonatal complications. The aims of the study were 1) to investigate if mode of delivery impacts on the risk of morbidity and mortality among term infants in breech presentation and 2) to compare the rates of severe neonatal complications and mortality in relation to presentation and mode of delivery. METHODS: This population-based cohort study used data from the Swedish Medical Birth Register...
September 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
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