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Congenital surgical malformation

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https://www.readbyqxmd.com/read/28546661/management-of-reproductive-tract-anomalies
#1
Garima Kachhawa, Alka Kriplani
Reproductive tract malformations are rare in general population but are commonly encountered in women with infertility and recurrent pregnancy loss. Obstructive anomalies present around menarche causing extreme pain and adversely affecting the life of the young women. The clinical signs, symptoms and reproductive problems depend on the anatomic distortions, which may range from congenital absence of the vagina to complex defects in the lateral and vertical fusion of the Müllerian duct system. Identification of symptoms and timely diagnosis are an important key to the management of these defects...
June 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#2
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#3
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/28533990/anomalous-origin-of-right-coronary-artery-originating-from-the-pulmonary-trunk-arcapa-an-incidental-finding-in-a-patient-presenting-with-chest-pain
#4
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/28530252/new-trends-in-rehabilitation-of-children-with-ent-disorders
#5
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
#6
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/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#7
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/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
#8
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/28506578/-congenital-heart-disease-in-adolescents-and-adults-management-in-a-general-cardiology-department-in-senegal
#9
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/28501462/ray-resection-in-paediatric-population
#10
S Martínez-Álvarez, A Maldonado-Morillo, I Vara-Patudo, C Martínez-González, C Miranda-Gorozarri
AIM: Evaluation of clinical and functional outcome of ray resection in paediatric population and description of key aspects of surgical technique. MATERIAL AND METHODS: We performed a retrospective review of all patients undergoing surgery between 2010-2015. INCLUSION CRITERIA: one or more ray resections of the hand and a minimum of one year follow-up. Evaluation of clinical characteristics, functional and cosmetic results, complications, need for psychological support and patient or family satisfaction...
May 10, 2017: Revista Española de Cirugía Ortopédica y Traumatología
https://www.readbyqxmd.com/read/28491157/infracardiac-type-total-anomalous-pulmonary-venous-return-with-obstruction-and-dilatation-of-portal-vein
#11
Felipe Aluja Jaramillo, Cristian Hernandez, Juan Pablo Garzón, Angela Paola Sánchez Herrera, Martha Lucia Velasco Morales
Total anomalous pulmonary venous return (TAPVR), also known as total anomalous pulmonary venous connection, is a congenital cardiovascular malformation that presents itself in the neonatal period, with cyanosis and tachypnea. There are 4 types of TAPVR with the mixed type being the least common. Any type of TAPVR may be associated with obstruction as result of flow redirection through the liver parenchyma before it may return to the heart, but infracardiac is the most common one. We report a case of a 10-hour-old female, with a mixed (cardiac and infracardiac) TAVPR with obstruction, that showed drainage to the coronary sinus and the portal vein, as the other classic findings in TAVPR, made with computed tomography angiography and echocardiogram...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28488459/classification-of-congenital-anomalies-of-the-hand-and-upper-limb
#12
M A Tonkin
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved...
June 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28481064/-diagnosis-and-treatment-of-the-tumors-of-the-parotid-region-in-pediatrics-cohort
#13
R Oesterreich, J Udaquiola, P Lobos, J Moldes, D Liberto
INTRODUCTION: Parotid tumors are rare in children and usually have multiple differential diagnoses that require different diagnostic and treatment methods. MATERIAL AND METHODS: Retrospective cohort study of all consecutive pediatric patients with parotid tumors that were treated in Pediatric Surgery Service of Hospital Italiano de Buenos Aires. RESULTS: Twenty-two patients with parotid tumors were included and 72% (n=16) were female patients...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28477039/extreme-aplasia-cutis-congenita-involving-the-skull
#14
Sebastian Shrager, Vlad Voin, Joe Iwanaga, R Shane Tubbs, James Johnston
Aplasia cutis congenita (ACC) is a rare congenital malformation of primarily the skin; it is most commonly seen on the scalp but can occur anywhere on the body. The exact etiology is still unclear but there are many suggested causes. Classification systems have been proposed to help categorize patients and assist with treatment. Treatment options are controversial and range from conservative to surgical interventions. We report an extreme case of ACC that included a significant part of the skull. We discuss this case and review salient literature...
May 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28476356/an-italian-multicentre-experience-in-endoscopic-endonasal-treatment-of-congenital-choanal-atresia-proposal-for-a-novel-classification-system-of-surgical-outcomes
#15
Apostolos Karligkiotis, Paolo Farneti, Stefania Gallo, Alessandro Pusateri, Francesco Zappoli-Thyrion, Vittorio Sciarretta, Fabio Pagella, Paolo Castelnuovo, Ernesto Pasquini
OBJECTIVE: The purposes of this study were to report our experience with endoscopic treatment of choanal atresia (CA), to illustrate our surgical technique and analyse the different factors that may affect outcomes. MATERIAL AND METHODS: A retrospective review was performed of patients affected by congenital CA and treated between June 1996 and November 2013 at three referral centres which follow a uniform policy. RESULTS: Eighty-four patients with CA (55 unilateral and 29 bilateral), aged between one day and 76 years (mean, 13 years) were included...
March 28, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28470385/the-metopic-sagittal-craniosynostosis-report-of-35-operative-cases
#16
Takeyoshi Shimoji, Takaoki Kimura, Kazuaki Shimoji, Masakazu Miyajima
PURPOSE: We have diagnosed 35 cases of the supposedly rare condition metopic-sagittal synostosis in the past 20 years. Here, we introduce their clinical symptoms, neuroradiological findings, and surgical treatment methods, as well as discuss the relevant literature. METHODS: Subjects included 35 patients (33 boys and 2 girls; mean age 4.2 years; range 1-8 years). Magnetic resonance imaging (MRI) confirmed that there were no abnormal findings in the brain. Thirty patients presented with symptoms including speech delay, hyperactivity, autistic tendency, motor impairment, self-mutilation, and panic/temper tantrum behaviors...
May 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28468208/popliteal-pterygium-syndrome-with-syngnathia
#17
Andrea Sisti, Nicola Freda, Alessandro Giacomina, Gian Luca Gatti
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28466073/completely-isolated-retroperitoneal-enteric-duplication-cyst-with-adenocarcinoma-transformation-managed-with-robotic-radical-nephrectomy
#18
Kassem Faraj, Luke Edwards, Alia Gupta, Brian Seifman
Background: Enteric duplication cysts are congenital malformations that typically affect children in infancy, but can also affect adults. Rarely, these cysts can be complicated by malignancy. We present the first case of retroperitoneal duplication cyst that was complicated by malignancy transformation and managed by robot-assisted excision. Case presentation: A 64-year-old female with a history of a left-sided renal cyst presented with a 4-month history of abdominal pain and fatigue. MRI revealed a bilobed cyst, with components measuring 6...
2017: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/28457076/improvement-in-creatinine-clearance-after-open-heart-surgery-in-infants-as-an-early-indicator-of-surgical-success
#19
Amit Dagan, Ovadia Dagan
BACKGROUND: Early surgical correction of congenital heart malformations in neonates and small infants may be complicated by acute kidney injury (AKI), which is associated with higher morbidity and mortality rates, especially in patients who require dialysis. Glomerular filtration rate (GFR) is considered the best measurement of renal function which, in neonates and infants, is highly dependent on heart function. OBJECTIVES: To determine whether measurements of creatinine clearance after open heart surgery in neonates and young infants can serve as an early indicator of surgical success or AKI...
December 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28457060/complications-of-post-burn-tissue-expansion-reconstruction-9-years-experience-with-42-pediatric-and-26-adult-patients
#20
Alexander Margulis, Allan Billig, Jhonatan Elia, Yair Shachar, Neta Adler
BACKGROUND: Burn scar reconstruction is extremely challenging, even for the most proficient reconstructive surgeon. Within the arsenal of tools at the plastic surgeon's disposal, tissue expansion provides an efficient modality for reconstruction despite the reported complication rates. OBJECTIVES: To critically review our experience with tissue expansion for burn scar reconstruction, comparing particularly the adult and pediatric populations. METHODS: We conducted a retrospective study of the outcomes of patients who underwent burn scar reconstruction with tissue expansion at Hadassah Medical Center between January 2003 and July 2012...
February 2017: Israel Medical Association Journal: IMAJ
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