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Congenital deformity

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https://www.readbyqxmd.com/read/29781248/the-role-of-3d-printing-in-treating-craniomaxillofacial-congenital-anomalies
#1
REVIEW
Christopher D Lopez, Lukasz Witek, Andrea Torroni, Roberto L Flores, David B Demissie, Simon Young, Bruce N Cronstein, Paulo G Coelho
Craniomaxillofacial congenital anomalies comprise approximately one third of all congenital birth defects and include deformities such as alveolar clefts, craniosynostosis, and microtia. Current surgical treatments commonly require the use of autogenous graft material which are difficult to shape, limited in supply, associated with donor site morbidity and cannot grow with a maturing skeleton. Our group has demonstrated that 3D printed bio-ceramic scaffolds can generate vascularized bone within large, critical-sized defects (defects too large to heal spontaneously) of the craniomaxillofacial skeleton...
May 20, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29779595/disorders-of-the-chest-wall-clinical-manifestations
#2
REVIEW
Mazen O Al-Qadi
Chest wall disorders represent deformities and/or injuries that alter the rib cage geometry and result in pulmonary restriction, increased work of breathing, exercise limitations, and cosmotic concerns. These disorders are congenital or acquired and affect all ages. Disorders affecting the spine (kyphoscoliosis, ankylosing spondylitis), ribs (flail chest), and sternum (pectus excavatum) are discussed in this article, with emphasis on clinical presentations, pulmonary function abnormalities, diagnosis, and treatment...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29775814/composite-self-expanding-bioresorbable-prototype-stents-with-reinforced-compression-performance-for-congenital-heart-disease-application-computational-and-experimental-investigation
#3
Fan Zhao, Wen Xue, Fujun Wang, Laijun Liu, Haoqin Shi, Lu Wang
Stents are vital devices to treat vascular stenosis in pediatric patients with congenital heart disease. Bioresorbable stents (BRSs) have been applied to reduce challenging complications caused by permanent metal stents. However, it remains almost a total lack of BRSs with satisfactory compression performance specifically for children with congenital heart disease, leading to importantly suboptimal effects. In this work, composite bioresorbable prototype stents with superior compression resistance were designed by braiding and annealing technology, incorporating poly (p-dioxanone) (PPDO) monofilaments and polycaprolactone (PCL) multifilament...
May 8, 2018: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/29775000/-the-treatment-efficiency-of-a-new-ear-moding-device-in-the-infants-with-congenital-ear-abnormalities
#4
P W Chen, J Li, S Q Zhao, J S Yang, J M Dou, C Y Wei
Objective: To observe the nonsurgical treatment effciency of a new ear moding device on congenital auricle deformities in order to promote clinical application. Method: Twenty-nine patients (38 ears) from Beijing Tongren Hospital Outpatient received ear molding treatment using the EarWell Infant Ear Correction System. We keep regular follow-up and close observation during the moding period. The treatment effciency was judged by the otologist, plastic surgeons and parents based on the preprocedure and postprocedure photographs and divided into 3 grades: excellent, good and poor...
June 5, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29765785/spondylocostal-dysostosis-a-literature-review-and-case-report-with-long-term-follow-up-of-a-conservatively-managed-patient
#5
Brendan R Southam, Adam P Schumaier, Alvin H Crawford
Introduction: Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29764583/-syndromic-hirschsprung-prime-s-disease-and-its-mode-of-inheritance
#6
Jing-Ru Zhang, Zhi-Bo Zhang
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29759027/upper-limb-congenital-muscular-hypertrophy-and-aberrant-muscle-syndrome-in-children
#7
Emmanuel Dahan, Camilo Chaves, Manon Bachy, Frank Fitoussi
Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture...
January 1, 2018: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/29756610/the-hump-columellar-strut-a-reliable-technique-for-correction-of-nasal-tip-underprojection
#8
P G Giacomini, S Mocella, S DI Girolamo, R DE Berardinis, A Boccieri
Nasal tip under projection is often found in rhinoplasty cases both for congenital or post-traumatic deformity. Nasal trauma may result in alteration of the external and internal nasal structures with following aesthetic impairment and difficulties in breathing. Post-traumatic surgery is frequent, but restoration of pre-traumatic form and function remains a challenge. The present paper describes a new method to increase tip projection by a columellar strut harvested from the autologous nasal bone and cartilage of the resected hump...
February 2018: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29755372/use-of-laser-assisted-optical-rotational-cell-analyzer-lorrca-maxsis-in-the-diagnosis-of-rbc-membrane-disorders-enzyme-defects-and-congenital-dyserythropoietic-anemias-a-monocentric-study-on-202-patients
#9
Anna Zaninoni, Elisa Fermo, Cristina Vercellati, Dario Consonni, Anna P Marcello, Alberto Zanella, Agostino Cortelezzi, Wilma Barcellini, Paola Bianchi
Chronic hemolytic anemias are a group of heterogeneous diseases mainly due to abnormalities of red cell (RBC) membrane and metabolism. The more common RBC membrane disorders, classified on the basis of blood smear morphology, are hereditary spherocytosis (HS), elliptocytosis, and hereditary stomatocytoses (HSt). Among RBC enzymopathies, the most frequent is pyruvate kinase (PK) deficiency, followed by glucose-6-phosphate isomerase, pyrimidine 5' nucleotidase P5'N, and other rare enzymes defects. Because of the rarity and heterogeneity of these diseases, diagnosis may be often challenging despite the availability of a variety of laboratory tests...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29751786/meconium-peritonitis-due-to-fetal-appendiceal-perforation-two-case-reports-and-a-brief-review-of-the-literature
#10
Yi Wang, Yeming Wu, Wenbin Guan, Wenbo Yan, Yuhua Li, Jin Fang, Jun Wang
BACKGROUND: Meconium peritonitis is an infrequent congenital disease usually caused by perforation of the fetal digestive tract. Meconium peritonitis resulting from intrauterine appendiceal perforation has been rarely reported and is often overlooked during pregnancy. We herein report two cases of fetal appendiceal perforation. CASE PRESENTATION: Two neonates were found to have intestinal distension and gradually increasing ascites antenatally. After birth, diagnostic abdominal punctures revealed meconium peritonitis...
May 11, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29748102/complete-first-ray-polydactyly-a-case-report
#11
Joshua L Moore, Alison Joseph
Polydactyly has been described as the most common congenital deformity in children. However, it is less common in the foot, with surgical treatment for the deformity less commonly described in reported studies. We present a rare case of polydactyly, with complete first ray duplication, in an infant female. The purpose of our report was to outline a surgical plan and to discuss our results when treating this rare presentation of polydactyly.
May 7, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29746156/tessier-number-30-median-mandibular-cleft-with-congenital-heart-anomalies-in-qena-egypt
#12
Ahmed Ali Abdelrahim Ali
Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29742578/isolated-bilateral-macrostomia
#13
Rohan Pradhan, Bojie Lin, Xin-Yuan Pan, Guo-Qian Yin
Macrostomia (Tessier's 7 cleft) is a rare congenital lip deformity. Macrostomia can occur unilateral or bilateral, isolated or associated with other syndromes. Isolated bilateral macrostomia is exceedingly rare with only a few cases reported to date. The authors report 6 cases of isolated bilateral macrostomia surgically repaired in 4-layered approaches. The traditional method was improved and the result obtained was satisfactory after longest follow-up of 3 years. The technique is easy to imitate, simple in design, aesthetically and functionally corrects the deformity...
May 8, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29741560/combined-nasal-osteotomies-with-caudal-transverse-osteotomy-and-their-effect-on-dorsal-geometry
#14
Ersoy Konas, Ozan Bitik
Background: Congenital, traumatic, or developmental bony vault deformities may require additional interventions rather than classical osteotomies to correct the surface structure or angulations of the nasal bones in rhinoplasty. Objectives: The aim of the study was to determine the effects of the additional osteotomies applied for the correction of the nasal vault asymmetries retrospectively. Methods: Twenty-one patients among 512 primary rhinoplasty cases between 2011-2016 with bony vault asymmetries were included into the study...
May 8, 2018: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29732492/joint-hyperlaxity-prevents-relapses-in-clubfeet-treated-by-ponseti-method-preliminary-results
#15
Dan Ionuţ Cosma, Andrei Corbu, Dan Viorel Nistor, Adrian Todor, Madalina Valeanu, Jose Morcuende, Sorin Man
PURPOSE: The aim of the study was to evaluate the role of joint hyperlaxity (by Beighton score) as a protective factor for clubfoot relapse. METHODS: Patients with idiopathic clubfoot treated with the Ponseti method between January 2004 and December 2012, without other congenital foot deformity, and not previously treated by open surgery were included in either the Relapse group (n = 23) if it was a clubfoot relapse or the Control group (n = 19) if no relapse was noted...
May 7, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/29731574/prevalence-of-commissural-lip-pits-in-population-of-central-gujarat-a-hospital-based-study
#16
Mansi Narendra Tailor, Manjiri Uttam Joshi
Background: Commissural lip pits (CLPs) fall among the rare congenital deformities recorded. CLP usually follows dominant hereditary pattern and may be associated with other congenital defects. CLP can appear as unilateral depression or bilateral depression. Objective: To assess the prevalence, age distribution, site and gender predilection of CLP in a central Gujarat population. Materials and Methods: Outdoor patients over a period of 6 months were examined for clinical evidence of CLPs...
January 2018: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/29731280/-sandwich-deformity-in-klippel-feil-syndrome-a-full-spectrum-presentation-of-associated-craniovertebral-junction-abnormalities
#17
Yinglun Tian, Dongwei Fan, Nanfang Xu, Shenglin Wang
Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae resulting from a segmentation failure in the developing spine. According to Samartzis et al., the most commonly fused segments are found at C2/3 (74.1%) and C6/7 (70.4%). In patients with C2/3 fusion, especially when there is additional C1 occipitalization, several secondary anomalies including atlantoaxial dislocation (AAD), basilar invagination (BI), Chiari malformation, and syringomyelia can be identified. In this report, we present a case of a 12-year-old patient with C2/3 and occipitalization and a "Full-Spectrum" presentation of associated CVJ abnormalities including C0/1 fusion, AAD, BI, Chiari malformation, syringomyelia, myelopathy and cranial neuropathy received neurological decompression of the cervico-medullary junction by posterior reduction of the AAD and reconstruction of her CVJ using an unconventional hybrid construct due to a high-riding right vertebral artery in C2...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29730456/outcome-and-safety-analysis-of-3d-printed-patient-specific-pedicle-screw-jigs-for-complex-spinal-deformities-a-comparative-study
#18
Bhavuk Garg, Manish Gupta, Menaka Singh, Dinesh Kalyanasundaram
BACKGROUND CONTEXT: Spinal deformities are very challenging to treat and have a great risk of neurological complications due to hardware placement during corrective surgery. Various techniques have been introduced to ensure safe and accurate placement of pedicle screws. Patient-specific screw guides with pre-drawn and pre-validated trajectory seems to be an attractive option. PURPOSE: We have focused on developing 3D printing technique for complex spinal deformities in India...
May 3, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29727414/comprehensive-assessment-of-outcomes-from-patients-with-severe-early-onset-scoliosis-treated-with-a-vertebral-column-resection-results-from-an-srs-global-outreach-site-focos-in-ghana
#19
Kushagra Verma, Casey Slattery, Henry Duah, Kawdwo P Yankey, Gregory Mundis, Oheneba Boachie-Adjel
BACKGROUND: Early-onset scoliosis (EOS) remains a challenging pediatric spine condition to manage. Some severe deformities can be managed with a vertebral column resection (VCR), which is fraught with high complication rates and the outcomes have not been well reported. The purpose of this study is to provide an assessment of operative, radiographic, and clinical outcomes from children diagnosed with severe EOS treated with a VCR. METHODS: We performed a retrospective review of prospectively collected data...
April 30, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29720210/endoscopic-release-of-congenital-muscular-torticollis-with-radiofrequency-in-teenagers
#20
Jun-Liang Wang, Wei Qi, Yu-Jie Liu
BACKGROUND: Congenital muscular torticollis (CMT) is due to contracture of the sternocleidomastoid muscle which may cause activity limitations of the neck, tilt of the head, craniofacial asymmetry, and deformity of the skull. The authors present their experience of arthroscopic tight fibrous band release with radiofrequency in teenagers under local anesthesia and evaluate the clinical results. METHODS: A total of 69 patients who underwent arthroscopic release of CMT with radiofrequency under local anesthesia by a single surgeon could participate in this study...
May 3, 2018: Journal of Orthopaedic Surgery and Research
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