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Congenital malformation

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https://www.readbyqxmd.com/read/29333836/-phakomatosis-pigmentovascularis-cesioflammea-a-case-report
#1
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333811/neonatal-mortality-and-associated-factors-in-newborn-infants-admitted-to-a-neonatal-care-unit
#2
Juan C Lona Reyes, René O Pérez Ramírez, Leonardo Llamas Ramos, Larissa M Gómez Ruiz, Edith A Benítez Vázquez, Virginia Rodríguez Patino
INTRODUCTION: The increasing survival rate of preterm infants has altered the epidemiology of neonatal diseases; however, neonatal mortality is still the main component of child mortality. The objective of this study was to evaluate neonatal mortality and associated factors in newborn infants admitted to a neonatal care unit. MATERIAL AND METHODS: Prospective cohort study conducted between January 2016 and January 2017 at Hospital Civil de Guadalajara "Dr. Juan I...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333373/correction-of-congenital-cleft-earlobe-with-front-and-back-flaps
#3
Selman Karaci, Rüştü Köse
Congenital auricular deformities may be either deformational or malformational. Malformational anomalies present with a skin or cartilage shortage. Two cases with congenital cleft earlobe were presented. A new surgical technique using a two-layered repair with front and back flaps were introduced. She waited to begin wearing earrings until six months after the surgery to prevent possible scar contracture. The patients were followed up for a period ranging from 3 to 14 months. The earlobe volume deficiency was replaced, and acceptable scar maturation was obtained...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29331260/multifaceted-behavior-of-meckel-s-diverticulum-in-children
#4
Qingjiang Chen, Zhigang Gao, Lifeng Zhang, Yuebin Zhang, Tao Pan, Duote Cai, Qixing Xiong, Qiang Shu, Yunzhong Qian
PURPOSE/BACKGROUND: Meckel's diverticulum (MD) is one of the most common congenital malformations of gastrointestinal tract in children. However, the nonspecific clinical manifestations of MD often cause a diagnostic as well as therapeutic challenge to pediatric surgeon. This study aimed to review our experience in managing this disease while evaluating the management strategies. METHODS: We retrospectively analyzed the clinical data of all patients diagnosed with MD admitted to our center between January 2010 and December 2015...
December 5, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29330844/bradykinin-mediates-the-association-of-collecting-duct-cells-to-form-migratory-colonies-through-b2-receptor-activation
#5
Edith Del Valle Guaytima, Yamila Romina Brandán, Nicolás Octavio Favale, Bruno Jaime Santacreu, Norma B Sterin-Speziale, María Gabriela Márquez
It is known that bradykinin (BK) B2 receptor (B2R) is expressed in the collecting duct (CD) cells of the newborn rat kidney, but little is known about its role during early postnatal life. Therefore, we hypothesize that BK could participate in the mechanisms that mediate CD formation during the postnatal renal development. Performing primary cultures, combined with biochemical, immunocytochemical, and time-lapse analysis, we studied the role of BK in CD cell behaviour isolated from renal papilla of neonatal rats...
January 13, 2018: Journal of Cellular Physiology
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
#6
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/29329576/spontaneous-prematurity-in-fetuses-with-congenital-diaphragmatic-hernia-a-retrospective-cohort-study-about-prenatal-predictive-factors
#7
Bruna Maria Lopes Barbosa, Agatha S Rodrigues, Mario Henrique Burlacchini Carvalho, Roberto Eduardo Bittar, Rossana Pulcineli Vieira Francisco, Lisandra Stein Bernardes
BACKGROUND: To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). METHODS: A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29328793/novel-molecular-and-phenotypic-insights-into-congenital-lung-malformations
#8
Daniel T Swarr, William H Peranteau, Jennifer Pogoriler, David B Frank, N Scott Adzick, Holly L Hedrick, Mike Morley, Su Zhou, Edward E Morrisey
RATIONALE: Disruption of normal pulmonary development is a leading cause of morbidity and mortality in infants. Congenital lung malformations are a unique model to study the molecular pathogenesis of isolated structural birth defects as they are often surgically resected. OBJECTIVES: To provide insight into the molecular pathogenesis of congenital lung malformations through analysis of cell-type and gene expression changes in these lesions. METHODS: Clinical data, and lung tissue for DNA, RNA, and histology were obtained from 58 infants undergoing surgical resection of a congenital lung lesion...
January 12, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29328036/-structure-and-risk-factors-for-congenital-malformations
#9
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/29327490/fetal-subcutaneous-cells-have-potential-for-autologous-tissue-engineering
#10
Åsa Ekblad, Magnus Westgren, Magdalena Fossum, Cecilia Götherström
BACKGROUND: Major congenital malformations affect up to 3% of newborns. Infants with prenatally diagnosed soft tissue defects should benefit from having autologous tissue readily available for surgical implantation in the perinatal period. In this study, we investigate fetal subcutaneous cells (fSC) as cellular source for tissue engineering. METHODS: Fetal subcutaneous biopsies were collected from elective terminations at gestational week 20-21. Cells were isolated, expanded and characterized in vitro...
January 11, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29326865/rectal-atresia-and-congenital-hypothyroidism-an-association-or-coincidence
#11
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/29325848/a-genetic-investigation-of-sex-bias-in-the-prevalence-of-attention-deficit-hyperactivity-disorder
#12
Joanna Martin, Raymond K Walters, Ditte Demontis, Manuel Mattheisen, S Hong Lee, Elise Robinson, Isabell Brikell, Laura Ghirardi, Henrik Larsson, Paul Lichtenstein, Nicholas Eriksson, Thomas Werge, Preben Bo Mortensen, Marianne Giørtz Pedersen, Ole Mors, Merete Nordentoft, David M Hougaard, Jonas Bybjerg-Grauholm, Naomi R Wray, Barbara Franke, Stephen V Faraone, Michael C O'Donovan, Anita Thapar, Anders D Børglum, Benjamin M Neale
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. METHODS: We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (n = 20,183 cases, n = 35,191 controls) and Swedish population register data (n = 77,905 cases, n = 1,874,637 population controls)...
December 2, 2017: Biological Psychiatry
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
#13
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/29321944/myelomeningocele-with-unilateral-right-renal-agenesis-a-case-report
#14
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/29321443/a-new-arena-in-cardiac-surgery-pediatric-coronary-artery-bypass-surgery
#15
Soichiro Kitamura
Prior to the 1970s, pediatric coronary artery bypass surgery (PCABS) was seldomly performed due to the lack of compelling surgical indications. The advent of coronary sequelae secondary to Kawasaki disease (KD) and the occurrence of coronary artery complications due to newly developed procedures, such as the arterial switch operation and early repair for intrinsic congenital coronary malformations, necessitated the development of PCABS. Because children grow rapidly and their life expectancy is very long, with increasing exercise capability requirements, the strategy for PCABS should differ from that for bypass surgery in adults...
2018: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29318367/-vascular-anomalies-part%C3%A2-ii-vascular-malformations
#16
S Mylonas, S Brunkwall, J Brunkwall
Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later...
January 9, 2018: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/29318024/congenital-cranial-ventral-abdominal-hernia-peritoneopericardial-diaphragmatic-hernia-and-sternal-cleft-in-a-4-year-old-multiparous-pregnant-queen
#17
Camille Bismuth, Claire Deroy
Case summary: Cranial ventral midline hernias, most often congenital, can be associated with other congenital abnormalities, such as sternal, diaphragmatic or cardiac malformations. A 4-year-old multiparous queen with a substernal hernia was admitted for evaluation of a mammary mass. During CT examination, a bifid sternum, the abdominal hernia containing the intestines, spleen, omentum, three fetuses, a mammary mass and an incidental peritoneopericardial diaphragmatic hernia were identified...
July 2017: JFMS Open Reports
https://www.readbyqxmd.com/read/29317056/a-potentially-curative-fetal-intervention-for-hypoplastic-left-heart-syndrome
#18
Andrew T Hattam
Hypoplastic left heart syndrome (HLHS) encapsulates a spectrum of complex congenital cardiovascular malformations involving varying degrees of underdevelopment of the left-sided heart structures. However, despite improved survival rates since the introduction of staged surgical reconstruction, treatment options for HLHS remain palliative rather than curative. A major limiting factor in the development of definitive curative therapy for HLHS is an incomplete understanding of its pathogenesis. Currently, the aetiology HLHS is best conceptualised by the 'flow theory' of cardiogenesis, which states that normal cardiac development is reliant on the interrelationship of normal flow patterns of blood through the developing heart, and appropriate growth of the cardiac valves and myocardium...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29316280/giant-congenital-melanocytic-nevus-with-vascular-malformation-and-epidermal-cysts-associated-with-a-somatic-activating-mutation-in-braf
#19
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant congenital melanocytic nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
January 5, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29315865/coronary-artery-bypass-grafting-in-children
#20
Ahmet Arnaz, Tayyar Sarioglu, Yusuf Yalcinbas, Ersin Erek, Riza Turkoz, Ayla Oktay, Arda Saygili, Dilek Altun, Ayse Sarioglu
BACKGROUND: We present our clinical experience with coronary artery bypass grafting (CABG) in children. METHODS: Ten children who underwent CABG between July 1995 and August 2017 were retrospectively analyzed. Data including congenital cardiac malformations, previous surgical procedures, age and sex, type of coronary complications, ischemic events preceding surgery, and ventricular function before and after CABG were recorded. RESULTS: The study population consisted of five males and five females with a median age of 2...
January 7, 2018: Journal of Cardiac Surgery
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