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https://www.readbyqxmd.com/read/27433255/ultrasound-diagnosis-of-bilateral-cataracts-in-a-fetus-with-possible-cerebro-ocular-congential-muscular-dystrophy-during-the-routine-second-trimester-anomaly-scan
#1
Alexandra Drought, Ruwan Wimalasundera, Susan Holder
The finding of bilateral congenital cataracts in the fetus is rare. We report bilateral congenital cataracts detected during the routine second trimester anomaly scan, which subsequently were found to be associated with other congenital anomalies and the parents opted for a termination of pregnancy. At post-mortem, Muscle-Eye Brain disease or Walker-Warburg Syndrome was considered likely, which are autosomal recessive congenital muscular dystrophy disorders associated with cerebral, cerebellar, muscle and eye anomalies...
August 2015: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/27350828/mechanisms-of-interstrand-dna-crosslink-repair-and-human-disorders
#2
REVIEW
Satoru Hashimoto, Hirofumi Anai, Katsuhiro Hanada
Interstrand DNA crosslinks (ICLs) are the link between Watson-Crick strands of DNAs with the covalent bond and prevent separation of DNA strands. Since the ICL lesion affects both strands of the DNA, the ICL repair is not simple. So far, nucleotide excision repair (NER), structure-specific endonucleases, translesion DNA synthesis (TLS), homologous recombination (HR), and factors responsible for Fanconi anemia (FA) are identified to be involved in ICL repair. Since the presence of ICL lesions causes severe defects in transcription and DNA replication, mutations in these DNA repair pathways give rise to a various hereditary disorders...
2016: Genes and Environment: the Official Journal of the Japanese Environmental Mutagen Society
https://www.readbyqxmd.com/read/27292716/epas1-p-m535t-mutation-in-a-bulgarian-family-with-congenital-erythrocytosis
#3
Tzvetan Alaikov, Milena Ivanova, Velizar Shivarov
OBJECTIVES: In the last decade the identification of germline mutations in several genes such as EPOR, VHL, EGLN1, and EPAS1, helped the definition of several different subtypes of familial (congenital) erythrocytosis. Being rare disorders these entities often remain unrecognized or misdiagnosed, which necessitates the extensive reporting of newly identified cases. METHODS: We applied a genetic approach including whole exome sequencing and Sanger sequencing for the identification of the causative germline mutation in a Bulgarian family with congential erythrocytosis...
June 13, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27044215/-effectiveness-of-ilizarov-technique-in-treatment-of-old-dislocation-of-radial-head
#4
Yujing Cao, Yang Li, Xinwu Ming, Xinyue Ming, Keda Fu, Huijuan Lian, Shouren Shen, Hailiang Dong
OBJECTIVE: To explore the effectiveness of modified Ilizarov semi-ring external fixator combined with an ulnar osteotomy lengthening in the treatment of old dislocation of the radial head in children. METHODS: A retrospective analysis was made on the data of 14 patients with old dislocation of the radial head treated by the modified Ilizarov semi-ring external fixator combined with ulnar osteotomy lengthening between March 2012 and January 2015. The age ranged from 2 to 13 years (mean, 7...
December 2015: Chinese Journal of Reparative and Reconstructive Surgery
https://www.readbyqxmd.com/read/26631416/optimizing-age-of-cytomegalovirus-screening-and-vaccination-to-avert-congenital-disease-in-the-us
#5
Jorge A Alfaro-Murillo, Jeffrey P Townsend, Alison P Galvani
Cytomegalovirus (CMV) infection is the leading cause of congenital cognitive deficit, visual impairment and hearing loss in the US. Clinical trials are underway to evaluate the efficacy of CMV vaccine candidates in seronegative females. The optimal age of such vaccination depends on the interplay among age-specific transmission dynamics, vaccine efficacy and vaccine waning. We developed an age-structured model of CMV transmission dynamics in the US and estimated age-specific transmission rates of CMV based on age-stratified CMV prevalence, congenital infections per birth, breastfeeding patterns and demographic data...
January 4, 2016: Vaccine
https://www.readbyqxmd.com/read/26538103/minimally-invasive-ivor-lewis-oesophagogastrectomy-in-a-patient-with-situs-inversus-totalis%C3%A2
#6
Gopal Singh, Joseph Costa, Marc Bessler, Joshua Sonett
Situs inversus totalis (SIT) is a rare congenital condition in which the internal organs of the thoracic and abdominal cavities experience a right-to-left reflection across the sagittal plane. We describe a case of locally advanced adenocarcinoma of the oesophagus treated with minimally invasive oesophagectomy using a laparoscopic and left video-assisted thoracoscopic surgery approach in a patient with situs inversus totalis.
February 2016: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/25878418/primary-squamous-cell-carcinoma-of-bladder-exstrophy-in-an-adult
#7
Suresh Bhat, Manjunatha Sathyanarayanaprasad, Fredrick Paul
Exstrophy of the urinary bladder is a rare congential anomaly. The most common malignancy is an adenocarcinoma in these patients. Squamous cell carcinoma (SCC) occurring in these patients is uncommon and usually has a bad prognosis. The management of these patients is challenging and may require extensive reconstructive procedures. We report a case of SCC in a corrected bladder exstrophy patient who presented with an ulcerated mass in the lower abdomen extending to the base of the penis. Six months after extensive radical ablative surgery with reconstruction of the abdominal wall, the patient remained free of recurrence...
April 2015: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/25526433/scoliosis-in-herlyn-werner-wunderlich-syndrome-a-case-report-and-literature-review
#8
REVIEW
Zheng Li, Xin Yu, Jianxiong Shen, Jinqian Liang
Herlyn-Werner-Wunderlich syndrome (HWWS) is a congenital Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of HWWS and explores the possible association between the 2 diseases. A previously unreported scoliosis in HWWS is described. The patient is a 12-year-old Chinese female with scoliosis that underwent a posterior correction at thoracic 5-thoracic 12 (T5-T12) levels, using the Moss-SI (Johnson & Johnson, American) spinal system...
December 2014: Medicine (Baltimore)
https://www.readbyqxmd.com/read/25452981/c%C3%AE-ngenital-diaphragmatic-hernia-in-dakar-senegal
#9
O Ndour, A Faye, Na Ndoye, Dramé A, F Gassama, Pa Mbaye, G Ngom, M Ndoye
BACKGROUND: Congential diaphragmatic herniae pose serious challenges in their management in this environment.Aim & Objective: To determine the pattern, as well as the diagnostic and management challenges of congenital diaphragmatic hernia in Dakar, Senegal. PATIENTS AND METHODS: This is a retrospective review of 14 children with congenital diaphragmatic hernia (CDH) managed within eleven years in Dakar, Senegal. RESULTS: There were nine boys and five girls with the age range of one day to 22 months and a mean of 5 months...
April 2012: Journal of the West African College of Surgeons
https://www.readbyqxmd.com/read/25252715/congential-scoliosis-in-wilson-s-disease-case-report-and-review-of-the-literature
#10
REVIEW
Zheng Li, Xin Yu, Jianxiong Shen, Jinqian Liang
BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, which leads to the accumulation of this metal in liver, brain, cornea and kidney. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of thoracic kyphosis occurring in the setting of Wilson'disease and explore the possible association between the two diseases. CASE PRESENTATION: Case report and literature review. A previously unreported thoracic kyphosis in Wislon's disease is decribed...
2014: BMC Surgery
https://www.readbyqxmd.com/read/25252496/congenital-alveolar-synechiae-with-cleft-palate
#11
Omer Salahuddin, Kanwal Yousaf, Mamoon Rashid, Shumaila Yousaf, Uzair Ahmed Qazi, Ishtiaq-ur-Rehman
Congential maxillomandibular fusion or jaw adhesions is a rare entity. It is often associated with other congenital anomalies like cleft palate and is characterized by restricted mouth opening. This unusual presentation of congenital alveolar synechiae is highlighted in a 15 days old baby boy. Under inhalational anaesthesia his fibrocartilagenous adhesions were excised and endotracheal tube was then placed. Good recovery without any residual scars or adhesions and a 25 mm mouth opening was achieved.
June 2014: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/25177616/congential-lumbar-hernia-with-malrotation-of-left-kidney-and-hydronephrosis-in-an-infant-a-rare-presentation
#12
Rohit Kapoor, Premila Paul, Sarthak Sachdeva
Congenital Lumbar hernia was previously known as Lumbocostovertebral syndrome. This syndrome consists of the presence of hemivertebrae, rib defects, abdominal wall anomalies and hypoplasia of the abdominal musculature. This case report describes a 40-hour-old infant with malrotation of left kidney and hydronephrosis in association with congenital lumbar hernia. Various congenital renal anomalies like renal pyelectasis, bilateral renal agenesis and pelviureteric junction obstruction, malascended kidneys, hypospadiasis have been reported in association with this disease...
July 2014: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/24761097/treatment-of-port-wine-stains-with-flash-lamp-pumped-pulsed-dye-laser-on-indian-skin-a-six-year-study
#13
Chandroth Ponnambath Thajudheen, Kannangath Jyothy, Arul Priyadarshini
CONTEXT: Port-wine stain (PWS) is one of the commonly encountered congenital cutaneous vascular lesions, with an equal sex distribution. Pulsed dye lasers (PDL) have revolutionized the treatment of both congential and acquired cutaneous vascular lesions. The pulsed dye lasers owing to its superior efficacy and safety profile have become the gold standard for the management of port-wine stains. AIMS: To evaluate the efficacy and side effects of pulsed dye laser for the management of Port-wine stain on Indian skin...
January 2014: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/24692010/-typical-tumors-of-the-petrous-bone
#14
F Ahlhelm, U Müller, S Ulmer
In the region of the petrous bone, inner acoustic canal and cerebellopontine angle, a variety of different tissues can be found, such as bony, epithelial, neural and vascular structures. Tumorous or tumor-like lesions, vascular or bony malformations or other pathologies can therefore be found in all of these areas. We discuss various frequently occurring tumorous or tumor-like pathologies including congential lesions, such as mucoceles, inflammatory disorders including osteomyelitis, pseudotumors and Wegener's granulomatosis...
April 2014: Der Radiologe
https://www.readbyqxmd.com/read/24673961/current-readings-surgical-repair-experience-of-congenital-chest-wall-deformities
#15
Anna Lakoma, Eugene S Kim
Major advancements have been made in the surgical repair of congential chest wall deformities. This review highlights selected readings of the experience in correction of pectus excavatum and pectus carinatum. In particular, it summarizes the current standard of care and outcomes of new and modified procedures for patients with chest wall deformities.
2013: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/24223361/desflurane-versus-opioid-anesthesia-for-cardiac-shunt-procedures-in-infants-with-cyantoic-congential-heart-disease
#16
Poonam Malhotra, George Mychaskiw, Amit Rai
BACKGROUND: Placement of a Blalock-Taussig (BT) shunt is frequently performed for palliation of cyanotic congenital heart disease (CCHD). OBJECTIVES: Inhalational anesthetics, when used in adult heart surgery, offer advantages of myocardial protection and decrease in use of inotropes, duration of ventilation, ICU and hospital length of stay (LOS).There is little literature, however, in the comparative use of inhalational and narcotic anesthesia in CCHD. PATIENTS AND METHODS: Following Institutional Ethical Review Board approval and parental consent, 35 patients presenting for BT shunt were prospectively randomized to receive either a desflurane anesthetic or a narcotic anesthetic...
2013: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/24168773/-blood-vessel-anomalities-in-the-oral-cavity-of-two-calves
#17
Rösti, Lauper, Merhof, Gorgas, Ross, Grest, Welle
Two calves were presented with a congenital mass in the rostral mandibular gingiva. In both cases the masses relapsed after surgical removal. Histologically, the two masses were composed of irregularly arranged vascular cavities, embedded in loosely arranged stroma and alcian-blue PAS positive ground substance. Radiologically, a destruction of the alveolar cavity was recognized in both cases, which was in case 1 histologically compatible with bone resorption and remodeling associated with the infiltration of abundant granulation tissue...
November 2013: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/23507857/imaging-techniques-for-the-diagnosis-of-male-traumatic-urethral-strictures
#18
REVIEW
Lujie Song, Minkai Xie, Yuanyuan Zhang, Yuemin Xu
Urethral injures, pelvic trauma, and certain congential abnormalities in male can often cause urethral strictures and scarring. Adequate and accurate imaging diagnosis of urethral strictures is critial to select a surgical approach. Although urethrography is commonly used in evaluating male urethral injury and strictures, its limitation is that the contrast offers images only at the urethral lumen but not of the periurethral structures. Sonourethrography (SUG) has the ability to define the periurethral tissues and without the radiation exposure, the degree of periurethral fibrosis can be shown with a view to guiding surgery especially in bulbar urethra...
2013: Journal of X-ray Science and Technology
https://www.readbyqxmd.com/read/23294764/human-congenital-myopathy-actin-mutants-cause-myopathy-and-alter-z-disc-structure-in-drosophila-flight-muscle
#19
Maria Sevdali, Vikash Kumar, Michelle Peckham, John Sparrow
Over 190 mutations in the human skeletal muscle α-actin gene, ACTA1 cause congenital actin myopathies. We transgenically expressed six different mutant actins, G15R, I136M, D154N, V163L, V163M and D292V in Drosophila indirect flight muscles and investigated their effects in flies that express one wild type and one mutant actin copy. All the flies were flightless, and the IFMs showed incomplete Z-discs, disorganised actin filaments and 'zebra bodies'. No differences in levels of sarcomeric protein expression were observed, but tropomodulin staining was somewhat disrupted in D164N, V163L, G15R and V163M heterozygotes...
March 2013: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/23129344/therapy-in-pediatric-stroke
#20
REVIEW
B Simma, I Höliner, J Luetschg
The aim of this review is to summarize the existing literature on therapy and management of cerebrovascular insults in children and adolescents. As data sources, studies were identified by MEDLINE, PubMed, Cochrane Library, and relevant bibliographies for the topic "pediatric stroke." We also reviewed guidelines for "stroke in adults." As a result, pediatric stroke is underestimated. The annual incidence for all stroke entities (cerebral venous thrombosis and hemorrhagic and arterial ischemic stroke) is as high as for pediatric brain tumors, 3-15/100...
July 2013: European Journal of Pediatrics
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