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Congenital deformity

Muhammad Sohail Umerani, Hira Burhan, Salman Sharif, Tauqir Ul Islam, Mehak Hafiz Ghaziani
Orbital roof defects are rare congenital osseous abnormalities that cause protrusion of intracranial contents into the orbit, resulting in a condition known as the orbital meningoencephalocele, a rare cause of pulsatile proptosis. We present a case of a 25-year-old lady, presented to us with complaints of left frontal headache, left eye protrusion and double vision from the left eye for the past three months. Her higher mental functions were intact. Local examination revealed non-axial pulsatile proptosis and an outward depression of the left eyeball along with diplopia...
January 15, 2018: Curēus
Quan Wang, Shulei Fan, Chun Wu, Xianqing Jin, Zhengxia Pan, Daqing Hong
BACKGROUND: Pectus excavatum, the most common congenital chest wall deformity in pediatric patients, leads to pulmonary dysfunction. There is no consensus regarding the effectiveness of the Nuss procedure for recovering pulmonary function. In this meta- analysis, we focused on the changes that occur in pulmonary function after the Nuss procedure. METHODS: We performed a literature search in the MEDLINE, Embase, Cochrane library and PubMed databases. The included studies were required to contain pulmonary function tests with results adjusted to predicted values both before and after the Nuss procedure...
February 21, 2018: Journal of Pediatric Surgery
E Sayit, A T Sayit, M Bagir, Y Terzi
BACGROUND: Ulnar variance, or the difference in height between the joint surfaces of the distal radius and ulna, may play a role in several diseases of the wrist. HYPOTHESIS: This study was to conduct a detailed analysis of ulnar variance in a wider case series by dividing the patients' radiographs into groups according to age, gender, and side. MATERIALS AND METHODS: Twenty groups were created in order to investigate the change of ulnar variance according to age, gender, and side...
March 13, 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
Mian Ma, Zhi-Liang Ding, Zhi-Qi Cheng, Gang Wu, Xiao-Yu Tang, Peng Deng, Jian-Dong Wu
OBJECTIVE: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients in order to help improve diagnosis and treatment of this disease. METHODS: We present a rare case of an adult patient suffering from neurocutaneous melanosis with malignant melanoma as well as a review Chinese and English literature, and analyze their clinical features. RESULTS: There were thirty adult NCM patients, aged 19 to 65 years old, average 27...
March 9, 2018: World Neurosurgery
Cheryl Yi-Pin Lee, Lisa F P Ng
Despite being discovered approximately 70 years ago, Zika virus (ZIKV) has received little attention, until the occurrence of alarming epidemics in the Pacific Islands and Latin America between 2013 and 2016. These series of outbreaks resulted in crippling neurological complications in adults, and congenital deformities in new-borns. The dire outcomes marked ZIKV as a re-emerging pathogen of public health concern. Over a period of two years, extensive studies have been conducted to understand different aspects of ZIKV from pathogen biology to infection, including the immune response during virus-host interplay in established animal models, as well as potential therapeutics against ZIKV infection...
March 9, 2018: Microbes and Infection
Piotr Cierpikowski, Adam Rzechonek, Piotr Błasiak, Hanna Lisowska, Grzegorz Pniewski, Patric Le Pivert
Pectus excavatum is the most common congenital deformity of the chest. The Nuss procedure is minimally invasive surgical correction of this defect, using retrosternal metal bars. The purpose of the present study was to describe a 15-year experience with the Nuss surgery, and to evaluate the long-term clinical results of the procedure. We retrospectively evaluated 239 patients, aged 14-34, who underwent the Nuss surgery in the years 2002-2016. Postoperative complications were observed in 40/236 (16.9%) patients...
March 11, 2018: Advances in Experimental Medicine and Biology
Gabriel Altit, Shazia Bhombal, Krisa Van Meurs, Theresa A Tacy
INTRODUCTION: Newborns with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia and pulmonary hypertension (PH), and there is limited evidence that cardiac dysfunction is present. We sought to study early neonatal biventricular function and performance in these patients by reviewing early post-natal echocardiography (ECHO) measurements and comparing them to normal term newborns. METHODS: Retrospective case-control study reviewing clinical and ECHO data on term newborns with CDH and normal controls born between 2009 and 2016...
March 9, 2018: Pediatric Cardiology
Ahmet Altıntaş, Mustafa Çelik, Yakup Yeğin, Gürkan Kayabaşoğlu
Objective: To evaluate surgical outcomes of auricular lobuloplasy. Methods: In total, 13 patients (10 females and 3 males; average age, 32.3±8.48 years; range 21-44 years) who underwent auricular lobuloplasty were included in this study. Demographic characteristics, cause of surgery, presence of complications, and patient satisfaction were evaluated. Results: The mean follow-up was 16.5±9.6 months with the shortest and the longest follow-up being 6 and 34 months, respectively...
December 2017: Turkish Archives of Otorhinolaryngology
Mohammed Ashi, Rehab Assur, Basim Awan, Hattan Aljaaly
INTRODUCTION: Split Hand-Foot malformation (SHFM) is a congenital limb defect that affects the central rays of the hands and/or feet. It is a rare condition that has genetic and environmental etiologies. It ranges in severity depending on the extent of the malformation. We report on two siblings with severe SHFM affecting all limbs. METHODS: We described two cases of siblings with SHFM and discuss the possible causes of the condition. This research did not require ethical approval due to the institute not requiring it for this type of study...
December 27, 2017: International Journal of Surgery Case Reports
Ivan De Martino, David M Dines, Russell F Warren, Edward V Craig, Lawrence V Gulotta
Complex glenoid bone deformities present the treating surgeon with a complex reconstructive challenge. Although glenoid bone loss can be encountered in the primary setting (degenerative, congenital, post-traumatic), severe glenoid bone loss is encountered in most revision total shoulder arthroplasties. Severe glenoid bone loss is treated with various techniques including hemiarthroplasty, eccentric reaming, and glenoid reconstruction with bone autografts and allografts. Despite encouraging short- to mid-term results reported with these reconstruction techniques, the clinical and radiographic outcomes remain inconsistent and the high number of complications is a concern...
February 2018: American Journal of Orthopedics
Wahida Chakari, Jørgen Hesselfeldt, Charlotte Uth Caspara
Deviation of the penis may be congenital or acquired. The latter, also known as Peyronie's disease, is seen in 0.4-9% of patients. The aetiology is not fully understood, but the hypothesis is that microtrauma leads to scar tissue formation, plaques, which deform the penis. The disease is divided into a first, painful, progressive, inflammatory phase and a latter, steady, chronic phase. The symptoms are mainly sexual dysfunction and psychological problems. Surgery is recommended in congenital cases and in the chronic phase of Peyronie's disease, where the medical treatment has not been convincing...
February 19, 2018: Ugeskrift for Laeger
Shaofu Wang, Jing Li, Guohua Lü, Bing Wang, Xiaobin Wang
PURPOSE: Hemivertebra of the cervical spine is a rare but complex spinal malformation. To our knowledge, only one publication describes excision of an upper-middle cervical (between C2 and C4) hemivertebra. We present our experience with two cases of C3 hemivertebra resection and torticollis correction via a combined anterior-posterior-anterior surgical approach and short segment fixation. METHODS: Two 12-year-old patients with torticollis due to congenital C3 hemivertebra underwent surgery consisting of combined anterior vertebral body osteotomy, posterior element resection with segment instrumentation and deformity correction, and iliac bone graft reconstruction and fixation via an anterior approach...
February 28, 2018: European Spine Journal
John W Stelzer, Miguel A Flores, Waleed Mohammad, Nathan Esplin, Jonathan J Mayl, Christopher Wasyliw
Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation: A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup...
2018: Case Reports in Orthopedics
Kaiyong Liang, Xiaojuan Ou, Xukai Huang, Qunfang Lan
RATIONALE: Agenesis of the dorsal pancreas is a very rare condition with an unknown pathology and etiology, although it may be associated with autosomal dominant or X-linked dominant inheritance or retinoic acid and hedgehog signaling pathway alterations. This condition usually manifests with abdominal pain or pancreatitis, although some cases are asymptomatic. Approximately 50% of affected patients with this disorder present with hyperglycemia or various other anomalies. PATIENT CONCERNS: We report the case of a 23-year-old Chinese woman who visited the Department of Endocrinology and Metabolism with insulin-dependent diabetes but no specific symptoms, signs, or other deformities...
March 2018: Medicine (Baltimore)
Mohammed Ahmed Hussein, In Sik Yun, Dong Won Lee, Hanna Park, Kim Yong Oock
BACKGROUND: Congenital muscular torticollis is a common childhood musculoskeletal anomaly that might result in permanent craniofacial deformity, facial asymmetry, and changes in the cervical vertebrae, if not treated during early childhood. Although there have been many studies on cervical vertebral changes, their onset in children has not been previously studied. METHODS: Fifteen patients (aged <8 years) with a confirmed diagnosed of torticollis were included...
February 26, 2018: Journal of Craniofacial Surgery
Leela S Mundra, Husain T AlQattan, Meghan G Janette, Carissa Patete, Seth R Thaller
BACKGROUND: Cleft lip and palate are the most common craniofacial congenital malformations. Timing of the nasal repair remains somewhat controversial. Some authors perform a combined nasal and lip repair in infancy while others advocate for a staged repair with the nasal component occurring later in childhood. Frequently, secondary repair is needed to address residual nasal deformities in early adulthood. Conchal cartilage has become increasingly popular as a source of cartilage for secondary reconstruction...
February 23, 2018: Journal of Craniofacial Surgery
Katarina Andjelkov, Ramon Llull, Milan Colic, Tatjana C Atanasijevic, Vesna M Popovic, Miodrag Colic
Background: Even when clubfoot deformity is treated in a timely manner, the consequences observed in adulthood include hypoplasia of the calf muscles, gait impairment, decreases in foot size and can also affect the tibial length. These consequences may have negative impacts on the patient's subjective appraisal of long-term outcomes, and can influence the patient's self-esteem in both male and female patients. Objectives: We present our experience in the treatment of undeveloped calves after surgical treatment of congenital clubfoot...
February 21, 2018: Aesthetic Surgery Journal
Benoit I M M Hendrickx, Moustapha Hamdi, Assaf Zeltzer, Andrew Greensmith
BACKGROUND: Prominent ears are by far the most common congenital ear deformity. Many techniques have been described using one or a combination of 3 basic methods: cartilage cutting, cartilage weakening and pure cartilage shaping techniques. The ideal otoplasty technique should yield a natural correction of the deformity, with low recurrence rates and with little risk of complications. METHODS: A new cartilage shaping technique using closing wedge concentric microchondrectomies through an entirely posterior approach is presented...
February 19, 2018: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
Yetian Li, Fei Sheng, Chao Xia, Leilei Xu, Yong Qiu, Zezhang Zhu
STUDY DESIGN: A retrospective study. OBJECTIVES: To investigate the severity of pulmonary function impairment for AMC patients with concomitant scoliosis and to determine risk factors associated with the impaired pulmonary function in these patients.Summary of Background Data Arthrogryposis multiplex congenital (AMC) patients are generally believed to have impaired pulmonary function. However, the severity of respiratory morbidity and the associated risk factors have not been reported...
February 16, 2018: Spine
Hany Abdel Gawwad Soliman
STUDY DESIGN: A cross-sectional study OBJECTIVE.: The aim of this study was to study the health-related quality of life (HRQOL) of adolescents with severe untreated congenital kyphosis (CK) and congenital kyphoscoliosis (CKS) in a developing country. SUMMARY OF BACKGROUND DATA: Surgical intervention is generally indicated early in patients with progressive CK or CKS to prevent the progression of deformity and to improve the quality of life of the patients. HRQOL of adolescents with untreated CK and CKS in developing countries has never been investigated...
February 16, 2018: Spine
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