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Congenital surgical malformation

Mohammad Jafarian, Nima Dehghani, Shahin Shams, Mohammad Esmaeelinejad, Farzad Aghdashi
Arteriovenous malformations are uncommon congenital disorders in vascular development. They frequently involve craniofacial structures and result in a morphogenic abnormality with ominous arteriovenous shunting. We present a huge AVM of the upper lip in an 18-year-old patient who was successfully treated by the combination method of presurgical endovascular embolization and complete resection of the lesion. Subsequent surgical defect in upper lip, which involved more than two-third of the lip length, was reconstructed via Webster's modification of cheek advancement flap...
September 2016: Journal of Maxillofacial and Oral Surgery
J Lindert, O Hiort, L Tüshaus, K Tafazzoli-Lari, L Wünsch
A variable spectrum of urogenital malformations exists in girls with congenital adrenal hyperplasia (CAH). The vagina may enter the urethra at a variable level, and relations to the sphincter complex vary accordingly. Furthermore, an enlarged clitoris and variations in the bladder sphincter anatomy can be found. Endoscopy, genitography or magnetic resonance imaging (MRI) are commonly used for the assessment of these anomalies, and to provide information for counselling and treatment. When surgery is planned, introitoplasty cosmetical reduction of the clitoris and labioplasty are discussed with the families; introitoplasty is the most demanding aspect...
September 10, 2016: Journal of Pediatric Urology
Anna Elander, Christina Persson, Jan Lilja, Hans Mark
A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age...
October 18, 2016: Journal of Plastic Surgery and Hand Surgery
Guang-Han Wang, Lan Zhu, Ai-Ming Liu, Tao Xu, Jing-He Lang
BACKGROUND: Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. METHODS: We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process...
2016: Chinese Medical Journal
George Younan, Max Schumm, Fadwa Ali, Kathleen K Christians
Introduction. Gallbladder volvulus is a rare, potentially fatal condition unless diagnosed and treated early. Choledochal cysts are rare congenital malformations of the biliary tree predisposing to different pathologies and posing the risk of degradation into cholangiocarcinoma and gallbladder cancer. Dealing with both diseases at once has not been published yet in the literature. Presentation of Case. We report a case of gallbladder volvulus in an elderly female who happened to have a concomitant type I choledochal cyst...
2016: Case Reports in Surgery
Liang-Ze Zhang, Wei-Guo Ma, Shu-Geng Gao, Jie He
Unilateral absence of a pulmonary artery (UAPA) is a rare congenital cardiac malformation that is often associated with other cardiovascular deformities. Surgical repair of this rare condition is usually performed only on the abnormal lung. The occurrence of lung cancer in association with UAPA is even rarer and clinical experience is very limited. This report aims to describe a case of unilateral absence of right pulmonary artery that was complicated by primary carcinoma of the contralateral lung. A left lower lobectomy was performed despite the absence of the right pulmonary artery and repeated decreases in the arterial oxygen saturation (SaO2) were encountered intraoperatively...
September 2016: Journal of Thoracic Disease
Justin T Tretter, Diane E Spicer, Shumpei Mori, Sathish Chikkabyrappa, Andrew N Redington, Robert H Anderson
A comprehensive understanding of the normal and abnormal aortic root is paramount if we are to improve not only our assessment of the aortic root and its components but also the surgical approach to reconstructing this complex structure when congenitally malformed. Most anatomic and imaging-based classifications of the normal root recognize and describe the basic components, which include the shape and size of the three aortic sinuses and their three valvar leaflets, as well as the sinutubular junction and proximal ascending aorta...
October 11, 2016: Journal of the American Society of Echocardiography
Beatriz D S F Bonamichi, Stella L M Santiago, Débora R Bertola, Chong A Kim, Nivaldo Alonso, Berenice B Mendonca, Tania A S S Bachega, Larissa G Gomes
P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test...
October 10, 2016: Archives of Endocrinology and Metabolism
Daniele Starnoni, Roy Thomas Daniel, Mercy George, Mahmoud Messerer
BACKGROUND: Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities and their peculiar location represent a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered CSF dynamics. We report the first case in literature of a Chiari malformation type I and a lateral sphenoid encephaloceles revising the theoretical etiology and surgical technique of endoscopic repair...
October 8, 2016: World Neurosurgery
Manoj Kumar Sahu, Anuradha Singal, Ramesh Menon, Sarvesh Pal Singh, Alka Mohan, Mala Manral, Divya Singh, V Devagouru, Sachin Talwar, Shiv Kumar Choudhary
BACKGROUND AND OBJECTIVES: Adequate nutritional supplementation in infants with cardiac malformations after surgical repair is a challenge. Critically ill infants in the early postoperative period are in a catabolic stress. The mismatch between estimated energy requirement (EER) and the intake in the postoperative period is multifactorial, predisposing them to complications such as immune deficiency, more infection, and growth failure. This study aimed to assess the feasibility and efficacy of enriched breast milk feed on postoperative recovery and growth of infants after open heart surgery...
October 2016: Annals of Cardiac Anaesthesia
Gregory Tsoucalas, Markos Sgantzos
Paul of Aegina lived in a era when the preservation of the ancient Greek tradition was for him almost a necessity. Eager to follow the dogma of "oρθoπo(ε)δώ" (orthopodo: pace with no malformation), he introduced a series of surgical operations of reconstructive-cosmetic-plastic-orthopaedic nature to confront any disfiguration of the human body. The aim of our study is to present the atmosphere of the era concerning the congenital malformations, describe briefly Paul's contribution on classic orthopaedics and present his views on the preternatural fingers...
October 7, 2016: International Orthopaedics
Carla Frescura, Gaetano Thiene
Transposition of the great arteries (TGA) is a cardiac condition in which the arterial trunks arise from the inappropriate ventricle: the aorta from the right ventricle and the pulmonary trunk from the left ventricle [discordant ventriculo-arterial (VA) connection]. In complete TGA, the discordant VA connection is associated with situs solitus or inversus and concordant atrioventricular (AV) connection. The hemodynamic consequence of these combined connections is that systemic and pulmonary circulations function in "parallel" rather than in "series"...
2016: Frontiers in Pediatrics
Parker B Goodell, Andrea S Bauer, Francisco J A Sierra, Michelle A James
Background: Symbrachydactyly is a unilateral congenital hand malformation characterized by failure of formation of fingers and the presence of rudimentary digit nubbins. The management is variable and are investigated in this review. Methods: A detailed review of the literature was compiled into succinct clinically relevant categories. Results: Etiology, classification, non-surgical management, surgical intervention, and patient oriented outcomes are discussed. Conclusions: All interventions should prioritize realistic, evidence-supported appearance and functional gains...
September 2016: Hand: Official Journal of the American Association for Hand Surgery
Shilpa Sharma, Devendra K Gupta
Congenital H-type fistula is a rare congenital rectourogenital connection with an external anal opening in a normal or ectopic position. A systematic review was done to study the anatomical types of congenital H-type fistula, embryology, clinical presentation, relative gender distribution, associated anomalies, investigative modalities, and recent advances in treatment of these lesions. A PubMed search included H-type anorectal malformation; H-type anorectal malformations; H-type anorectal; and H-type congenital anorectal that gave 9;43;76;26 abstracts, respectively...
October 1, 2016: Pediatric Surgery International
Ambrin Gull Shamas, Karishma Bohara
This work was a retrospective audit of CCAM - 1994 to 2008. A total of 26 cases were identified. Mean gestational age at diagnosis was 20 weeks. All were unilateral and had serial scans. In 31% the lesion resolved, 8% decreased, 42% were unchanged and 4% increased in size. Only one foetus developed hydrops. All were born alive. Of 8 foetuses where the CCAM was thought to have resolved, 6 had persistent lesions (overall sensitivity and PPV of US 64% and 69%, respectively). Computerised tomography performed better than chest X-ray in detecting lesions postnatally (sensitivity 100% vs 88%, PPV 95% vs 78%)...
September 25, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Sandi K Lam, Rory R Mayer, Thomas G Luerssen, I Wen Pan
OBJECTIVES: To develop a cost model for hospitalization costs of surgery among children with Chiari malformation type 1 (CM-1) and to examine risk factors for increased costs. STUDY DESIGN: Data were extracted from the US National Healthcare Cost and Utilization Project 2009 Kids' Inpatient Database. The study cohort was comprised of patients aged 0-20 years who underwent CM-1 surgery. Patient charges were converted to costs by cost-to-charge ratios. Simple and multivariable generalized linear models were used to construct cost models and to determine factors associated with increased hospital costs of CM-1 surgery...
September 21, 2016: Journal of Pediatrics
N Gabunia, Iv Rodionov, T Chigogidze
Congenital renal malformations are the most common congenital malformations in humans, the most common being horseshoe kidney with joined lower poles present in up to 0.25% of general population. To the contrary renal fusions with ectopia are amongst the rare malformations affecting 1 in 2000 examined cadavers. Males are affected slightly more often then females (3:2), left to right crosses being more frequent. The value of early diagnosis of asymptomatic renal malformation is uncertain, except when other abnormalities might point to them and they can affect the clinical management strategy (severe ear deformity with facial malformation, gynecological abnormalities)...
July 2016: Georgian Medical News
Chenlong Yang, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families...
September 20, 2016: Journal of Molecular Neuroscience: MN
L Renieri, N Limbucci, S Mangiafico
Brain AVMs are complex malformations, usually congenital, that need a deep understanding of anatomy and pathophysiology to be safely treated. Nowadays, embolization and radiosurgery are carried out more frequently due to their reduced invasiveness as compared to conventional neurosurgery. This paper aims to describe different and new endovascular approaches that allow the interventionalist to treat almost all the small AVMs and to reduce the nidus of the bigger ones in order to facilitate the surgical or radiosurgical intervention...
2016: Acta Neurochirurgica. Supplement
C Le Stradic, J Aroulandom, H Kotobi, D Pariente, C Gaboran, J Lemale, B Dubern, P Tounian
INTRODUCTION: Duodenal duplications are rare congenital malformations whose revealing signs are highly variable and nonspecific. OBSERVATION: We report the case of a female infant who presented with neonatal acute pancreatitis complicated by recurrent ascites, profound hypoalbuminemia responsible for pleural and pericardial effusions, revealing a duodenal duplication cyst. The unusual and original clinical presentation as well as the difficulty detecting the duplication radiologically delayed the diagnosis...
October 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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