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https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#1
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#2
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28735429/history-of-club-foot-treatment-part-ii-tenotomy-in-the-nineteenth-century
#3
REVIEW
Philippe Hernigou, Nicolas Gravina, Damien Potage, Arnaud Dubory
Clubfoot is one of the most common congenital orthopaedic anomalies and was described by Hippocrates in the year 400 BC. From manipulation in antiquity to splint and plaster in the Renaissance the treatment had improved before tenotomy. Tenotomy was tested during the 19th century and will be explained in this manuscript; the introduction of subcutaneous tenotomy of the Achilles tendon had focused the attention of surgeons on the surgical treatment of clubfeet. While this operation was very successful in the correction of equinus deformities due to poliomyelitis, cerebral palsy, and old injuries, it was not a panacea for the patient with the congenital clubfoot...
July 22, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28718240/ponseti-technique-for-management-of-congenital-idiopathic-club-foot
#4
Muhammad Qaisar Shah, Alamzeb Khan, Muhammad Shoaib Zardad, Rizwana Iqbal, Sajjad Ahmed
BACKGROUND: Clubfoot or congenital talipes equinovarus, is a congenital deformity of the foot. It consists of cavus, adduction, varus and equinus. This is due to medial displacement of navicular and calcaneus around the talus. Talus is in equinus. Medial deviation of the head and neck of talus is due to force of calcaneus on talus. METHODS: This descriptive case series study was conducted at Orthopaedic unit, Ayub Teaching Hospital, Abbottabad from 1st August 2015 to 31st January 2016 to determine the frequency of idiopathic clubfoot correction, by using the Ponseti method...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28704304/arterial-tree-anomalies-in-patients-with-clubfoot-an-investigation-carried-out-at-soba-university-hospital
#5
Samir Shaheen, Mustafa E H Bahar, Almigdad H A Mohammed, Sara F A Elbadri, Ashok Johari
Vascular deficiencies and reduced perfusion of the anterior tibial artery and the dorsalis pedis artery were suggested as causes of congenital talipes equino varus (CTEV). In this study, we assessed the prevalence of arterial abnormalities in patients with CTEV (50 patients; 74 feet) compared with a normal control group (16 patients; 32 feet) by Doppler ultrasound and Ankle Brachial Index. The flow was normal in the control group and was deficient in 39.19% of clubfoot patients. In severe clubfoot cases, the deficiency was found to an extent of 76...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28672132/deficient-dorsalis-pedis-flow-in-severe-idiopathic-clubfeet-does-ponseti-casting-affect-the-outcome
#6
Ismail Munajat, Mehran Yoysefi, Nik Munirah Nik Mahdi
BACKGROUND: Arterial deficiency in congenital clubfoot or congenital talipes equinovarus (CTEV) was postulated as either the primary cause of deformity or secondary manifestation of other bony and soft tissue abnormalities. The objectives of the study were to find any association between arterial deficiency with severity of CTEV and its treatment. METHOD: This prospective study conducted on 24 feet with CTEV (18 babies) with Pirani score ranging between 2 to 6. Eighteen normal babies (36 feet) were selected as control...
June 8, 2017: Foot
https://www.readbyqxmd.com/read/28656164/ponseti-casting-method-in-idiopathic-congenital-clubfoot-and-its-correlation-with-radiographic-features-abstract
#7
Taghi Baghdadi, Nima Bagheri, Arvin Najafi, Pejman Mansouri, Mahmoud Farzan
BACKGROUND: The aim of this study was to evaluate the idiopathic congenital clubfoot deformity treated by Ponseti method to determine the different factors such as radiological investigations that may have relations with the risk of failure and recurrence in mid-term follow-up of the patients. METHODS: Since 2006 to 2011, 226 feet from 149 patients with idiopathic congenital clubfoot were treated with weekly castings by Ponseti method. Anteroposterior and lateral foot radiographies were performed at the final follow-up visit and the data from clinical and radiological outcomes were analysed...
May 2017: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/28632733/ponseti-method-in-the-management-of-clubfoot-under-2-years-of-age-a-systematic-review
#8
Balasankar Ganesan, Ameersing Luximon, Adel Al-Jumaily, Suchita Kothe Balasankar, Ganesh R Naik
BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children...
2017: PloS One
https://www.readbyqxmd.com/read/28625097/use-of-the-pirani-score-in-monitoring-progression-of-correction-and-in-guiding-indications-for-tenotomy-in-the-ponseti-method-are-we-coming-to-the-same-decisions
#9
Manuele Lampasi, C N Abati, S Stilli, G Trisolino
PURPOSE: The Pirani score is widely used in the treatment of idiopathic clubfoot. Some authors recommended to base decision for Achilles tenotomy in Ponseti method on this score (hindfoot score [HFS] > 1, once reducibility of lateral head of talus (LHT) is zero) instead of originally described indications (dorsiflexion < -10-15° once complete abduction is achieved). Yet correspondence of these indications has not been evaluated. Aim of this study was to verify whether in a cohort, where decision is based on dorsiflexion, the Pirani score corresponds to the limits suggested...
May 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28617179/predictive-value-of-pirani-scoring-system-for-tenotomy-in-the-management-of-idiopathic-clubfoot
#10
Badmus Hakeem David, Adegbehingbe Olayinka O, Esan Oluwadare, Orimolade E Ayodele, Mejabi Joseph O, Arije Olujide
PURPOSE: To determine the predictive value of the Pirani scoring system in the need for tenotomy using the Ponseti method for management of idiopathic clubfoot. METHOD: This is a prospective observational study involving patients less than 2 years of age with idiopathic clubfoot. The consenting parents and institution ethical board approved the study. The relationship between Pirani scores and the need for tenotomy was evaluated using the independent t-test and the binary logistic regression to predict the need for tenotomy...
May 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28574943/the-timing-and-relevance-of-relapsed-deformity-in-patients-with-idiopathic-clubfoot
#11
Sophia Nicole Sangiorgio, Edward Ebramzadeh, Rebecca D Morgan, Lewis E Zionts
BACKGROUND: The timing and relevance of relapsed deformity after correction of idiopathic clubfoot have not been well documented. METHODS: All patients with idiopathic clubfoot seen at the authors' institution during the study period who were followed for ≥2 years (range, 2.0 to 9.8 years) were included (N = 191). Survival analysis and multivariate regression analysis were used to analyze the data. RESULTS: The median age at first relapse was 20 months...
June 1, 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28568170/diagnostic-accuracy-work-up-and-outcomes-of-pregnancies-with-clubfoot-detected-by-prenatal-sonography
#12
Maya Sharon-Weiner, Rivka Sukenik-Halevy, Ronnie Tepper, Ami Fishman, Tal Biron-Shental, Ofer Markovitch
OBJECTIVE: To assess diagnostic accuracy, related findings and outcomes of fetuses with clubfoot. METHODS: Sonographic characteristics, pregnancy work-up and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS: Among 40,320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). Analysis included 108 pregnancies (72%) with 109 fetuses. Bilateral clubfoot was diagnosed in 51/109(46.7%) fetuses and unilateral in 58/109(53...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28562278/maternal-use-of-opioids-during-pregnancy-and-congenital-malformations-a-systematic-review
#13
REVIEW
Jennifer N Lind, Julia D Interrante, Elizabeth C Ailes, Suzanne M Gilboa, Sara Khan, Meghan T Frey, April L Dawson, Margaret A Honein, Nicole F Dowling, Hilda Razzaghi, Andreea A Creanga, Cheryl S Broussard
CONTEXT: Opioid use and abuse have increased dramatically in recent years, particularly among women. OBJECTIVES: We conducted a systematic review to evaluate the association between prenatal opioid use and congenital malformations. DATA SOURCES: We searched Medline and Embase for studies published from 1946 to 2016 and reviewed reference lists to identify additional relevant studies. STUDY SELECTION: We included studies that were full-text journal articles and reported the results of original epidemiologic research on prenatal opioid exposure and congenital malformations...
May 19, 2017: Pediatrics
https://www.readbyqxmd.com/read/28559980/all-trans-retinoic-acid-activates-sdf-1-cxcr4-rock2-signaling-pathway-to-inhibit-chondrogenesis
#14
Qin-Xiao Hu, Xue-Dong Li, Peng Xie, Chu-Cheng Wu, Gui-Zhou Zheng, Fei-Xiang Lin, Da Xie, Qi-Hao Zhang, De-Zhong Liu, Yun-Guo Wang, Bo Chang, Shi-Xin Du
Recent studies have indicated that ATRA inhibits chondrogenesis and can lead to congenital clubfoot (CCF). The molecular mechanism of ATRA-induced chondrogenesis is not clear. As RhoA/ROCK and SDF-1/CXCR4 signaling play important molecular roles for a variety of cellular processes, we hypothesized that RhoA/ROCK2 and SDF-1/CXCR4 signaling are involved in ATRA-induced chondrogenesis in rat embryo hind limb bud mesenchymal cells (rEHBMCs). We found that ATRA dose-dependently inhibits proliferation and expression of chondrogenic transcription factors (SOX9 and COL2A1) in rEHBMCs...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28553760/comparison-of-different-conservative-treatments-for-idiopathic-clubfoot-ponseti-s-versus-non-ponseti-s-methods
#15
Jin-Peng He, Jing Fan Shao, Yun Hao
Objective Various methods are applied in the clinical treatment of idiopathic clubfoot. The purpose of this meta-analysis was to evaluate the efficacy of different conservative treatments. Methods Studies were pooled and odds ratio (ORs) with corresponding confidence intervals were calculated for evaluation of the results, relapses, and requirement for major surgery. Results A final analysis of 1435 patients from 9 eligible studies was performed. The combined OR indicated that significantly more fair and poor results were achieved and that major surgery was required significantly more often when using non-Ponseti's methods (OR = 3...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28553455/tincture-of-benzoin-to-prevent-cast-slippage-in-clubfoot
#16
S Ibrahim
No abstract text is available yet for this article.
November 2016: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28553443/pattern-of-presentation-and-outcome-of-short-term-treatment-for-idiopathic-clubfoot-ctev-with-ponseti-method
#17
R Gunalan, A Mazelan, Ypb Lee, A Saw
Introduction: Congenital Talipes Equinovarus (CTEV) is a common congenital foot deformity that is associated with long term disability. Treatment with Ponseti method has been successful especially for children who present early. We conducted this study to investigate the age of presentation of children and report the early outcome. Materials: This is a retrospective study from a single institution. We included 31 patients with 45 idiopathic clubfeet and investigated problems and success rate at the end of serial casting...
November 2016: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#18
Philip K McClure, Eray Kilinc, Scott Oishi, Anthony I Riccio, Lori A Karol
BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015...
May 19, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28528482/evertor-muscle-activity-as-a-predictor-for-recurrence-in-idiopathic-clubfoot
#19
Perajit Eamsobhana, Pipat Kongwachirapaitoon, Kamolporn Kaewpornsawan
BACKGROUND: Clubfoot is a complex three-dimensional deformity. Although brace compliance after initial correction was previously found to be significantly associated with recurrence in clubfoot, few previous studies have specifically examined evertor muscle function as a factor that contributes to recurrence in children with idiopathic and non-idiopathic clubfoot. The aim of this study was to investigate the relationship among brace compliance, evertor muscle grading, and recurrence rate in pediatric clubfoot patients...
May 20, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28447124/history-of-clubfoot-treatment-part-i-from-manipulation-in-antiquity-to-splint-and-plaster-in-renaissance-before-tenotomy
#20
Philippe Hernigou, Maxime Huys, Jacques Pariat, Sibylle Jammal
Idiopathic clubfoot is one of the most common problems in paediatric orthopaedics. The treatment is controversial and continues to be one of the challenges in paediatric orthopaedics. The aim of this review is to assess the different methods of clubfoot treatment used over the years in light of the documentation present in the literature and art paintings from the antiquity to the end of the 19th century. The aim of this paper is to review all treatment methods of the clubfoot over the years that were proposed to provide patients a functional, pain-free, normal-looking foot, with good mobility, without calluses, and requiring no special shoes...
April 26, 2017: International Orthopaedics
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