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https://www.readbyqxmd.com/read/29760779/a-boy-with-developmental-delay-and-mosaic-supernumerary-inv-dup-5-p15-33p15-1-leading-to-distal-5p-tetrasomy-case-report-and-review-of-the-literature
#1
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Simple interstitial duplications leading to trisomies of parts of 5p are much more frequent and better described. Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and hypotonia...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29754137/unusual-cause-of-brachial-palsy-with-diaphragmatic-palsy
#2
Vishal Gupta, Aakash Pandita, Astha Panghal, Neha Hassan
We report a preterm neonate born with respiratory distress. The neonate was found to have diaphragmatic palsy and brachial palsy. The neonate was born by caesarean section and there was no history of birth trauma. On examination, there was bilateral congenital talipes equinovarus and a scar was present on the forearm. The mother had a history of chickenpox during the 16 weeks of pregnancy for which no treatment was sought. On investigation, PCR for varicella was found to be positive in the neonate.
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29642612/ponseti-technique-for-the-management-of-congenital-talipes-equinovarus-in-a-rural-set-up-in-india-experience-of-356-patients
#3
Rohit Malhotra, Ashutosh Mohapatra, Geetika Arora, Priyam Choudhury, Hitesh Joshi, Pranav Patel
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a complex congenital deformity of the foot that, left untreated, can limit a person's mobility by making it difficult and painful to walk. Worldwide, 80% of children born with clubfoot are in low- and middle-income countries. The management of clubfoot has a long history. Non-operative management did not become popular, as an increasing number of orthopaedists started leaning towards surgical treatment. The late Dr. Ignacio Ponseti developed a method of clubfoot correction that successfully realigns clubfoot in infants without extensive and major surgery...
April 10, 2018: Children
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#4
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29559783/association-between-etiology-and-lesion-site-in-ischemic-brainstem-infarcts-a-retrospective-observational-study
#5
Gozde Baran, Tugce Ozdemir Gultekin, Oguz Baran, Cigdem Deniz, Salim Katar, Gulsen Babacan Yildiz, Talip Asil
Background and purpose: To assess the anatomical distribution of the ischemic strokes of the brainstem, the effect of anatomical distribution on clinical features and prognosis, and the association between etiology and anatomical involvement. Methods: A retrospective search of the patient database of our institution was performed for a total of 227 patients who were admitted to the Department of Neurology, Medical Faculty of Bezmialem Vakif University between January 2012 and September 2014...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29473648/a-case-of-prenatal-isolated-talipes-and-22q11-2-deletion-syndrome-an-important-chromosomal-disorder-missed-by-noninvasive-prenatal-screening
#6
Ka Wang Cheung, Carman Wing Sze Lai, Christopher Chun Yu Mak, Pui Wah Hui, Brian Hon Yin Chung, Anita Sik Yau Kan
No abstract text is available yet for this article.
April 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29443383/a-b3galt6-variant-in-patient-originally-described-as-al-gazali-syndrome-and-implicating-the-endoplasmic-reticulum-quality-control-in-the-mechanism-of-some-%C3%AE-3galt6-pathy-mutations
#7
A Ben-Mahmoud, S Ben-Salem, M Al-Sorkhy, A John, B R Ali, L Al-Gazali
Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD-JL1)...
February 14, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#8
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#9
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
March 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29282147/spina-bifida-cystica-and-severe-congenital-bilateral-talipes-equinovarus-in-one-twin-of-a-monoamniotic-pair-a-case-report
#10
Benjamin Momo Kadia, Desmond Aroke, Frank-Leonel Tianyi, Ndemazie Nkafu Bechem, Christian Akem Dimala
BACKGROUND: Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. CASE PRESENTATION: A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care...
December 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29273277/novel-bicd2-mutation-in-a-japanese-family-with-autosomal-dominant-lower-extremity-predominant-spinal-muscular-atrophy-2
#11
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki
INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. PATIENTS: The proband was the father, aged 30, and the son was aged 3...
April 2018: Brain & Development
https://www.readbyqxmd.com/read/29231776/ilizarov-technique-combined-with-limited-adjunctive-surgical-procedures-for-correction-of-relapsed-talipes-equinovarus-in-children
#12
Xiao-Jian Wang, Feng Chang, Yun-Xing Su, Xiao-Chun Wei, Lei Wei
Objective To evaluate the efficacy and safety of using the Ilizarov invasive distraction technique combined with limited surgical operations in the treatment of relapsed talipes equinovarus in children. Methods This retrospective study analysed the outcomes of paediatric patients with relapsed talipes equinovarus who were treated with the Ilizarov technique with moderate open limited soft tissue or bony operations. The International Clubfoot Study Group (ICFSG) classification system score was used to evaluate the deformities before and after surgery...
February 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29216694/-evidence-level-and-grade-of-recommendation-of-the-ponseti-method-for-arthrogryposis-related-syndromic-talipes-equinovarus-and-moebius-syndrome-a-systematic-review
#13
J J Guerra-Jasso, J A Valcarce-León, H M Quíntela-Núñez-Del Prado
BACKGROUND: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome...
July 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#14
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29182130/correlation-of-pirani-score-and-foot-bimalleolar-angle-in-the-treatment-of-idiopathic-congenital-talipes-equino-varus-by-ponseti-method-in-infants
#15
R Anshuman, M Singh, B K Jain, N Verma, R Arora
AIM: Correlation of Pirani score and Foot bimalleolar (FBM) angle in the treatment of idiopathic congenital talipes equino varus (CTEV) by Ponseti method in infants. MATERIAL AND METHODS: 35 feet with idiopathic CTEV deformity <1 year were prospectively treated by Ponseti method. Deformity evaluated each successive week of treatment by Pirani score and FBM angle. Feet were divided according to Pirani score in groups : one(0-2.0), two(2.5-4) and three(4.5-6)...
December 2016: Acta Orthopaedica Belgica
https://www.readbyqxmd.com/read/29151894/-fast-cast-and-needle-tenotomy-protocols-with-the-ponseti-method-to-improve-clubfoot-management-in-bangladesh
#16
Angela Evans, Mamun Chowdhury, Sohel Rana, Shariar Rahman, Abu Hena Mahboob
Background: The management of congenital talipes equino varus ( clubfoot deformity ) has been transformed in the last 20 years as surgical correction has been replaced by the non-surgical Ponseti method. The Ponseti method, consists of corrective serial casting followed by maintenance bracing, and has been repeatedly demonstrated to give best results - regarded as the 'gold standard' treatment for paediatric clubfoot. Methods: To develop the study protocol Level 2 evidence was used to modify the corrective casting phase of the Ponseti method in children aged up to 12 months...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/29119788/radiochemical-determination-of-long-lived-radionuclides-in-proton-irradiated-heavy-metal-targets-part-i-tantalum
#17
Zeynep Talip, Rugard Dressler, Jean Christophe David, Christof Vockenhuber, Elisabeth Müller Gubler, Alexander Vögele, Eric Strub, Peter Vontobel, Dorothea Schumann
In this study, distillation, precipitation, and ion-exchange methods were chosen for the separation of the long-lived β-emitters129 I,36 Cl and the α-emitters154 Dy,148 Gd,150 Gd, and146 Sm from Ta targets irradiated with protons up to 2.6 GeV to determine their production cross sections. Measurements of129 I/127 I and36 Cl/35 Cl ratios were performed with accelerator mass spectrometry. After separation of the lanthanides, the molecular plating technique was applied to prepare thin samples to obtain highly resolved α-spectra...
December 19, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29037758/the-association-of-vertebrobasilar-calcification-with-etiological-subtypes-stroke-recurrence-and-outcome-in-acute-brainstem-ischemic-stroke
#18
Elif Gökçal, Elvin Niftaliyev, Tuğçe Özdemir, Mehmet Kolukısa, Talip Asil
Arterial calcification (AC), a frequent finding on imaging studies, has been reported as a risk factor for ischemic stroke. However few studies have explored the association of AC with etiological subtypes and prognostic implications. The purpose of this study was to investigate the association of AC with demograhics, risk factors and etiological subtypes and to determine whether it predicts stroke recurrence and functional outcome in patients with acute brainstem ischemic stroke. We analyzed our database consisting of patients who were diagnosed as acute brainstem ischemic stroke admitted within 24hours of onset...
October 9, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28946025/effects-of-thermal-and-deformation-on-martensitic-transformation-and-magnetic-properties-in-fe-17-mn-4-5-x-x-co-and-mo-alloys
#19
REVIEW
Osman Armağan, Uğur Sarı, Çağrı Yücel, Talip Kırındı
In this study, the Co and Mo addition to Fe-Mn based alloys was investigated to observe its effect on martensitic phase transformation. Two types of martensite structure occurred from the surface observations made by SEM for Co-added and Mo-added alloys morphologically in austenite grain. With the help of TEM studies, it was understood that these martensite structures are ε (h.c.p.) and α' (b.c.c.). TEM investigations showed that the orientation relationship between γ (f.c.c.) and ε phases corresponds to Shoji-Nishiyama type and between γ and α' phases corresponds to Kurdjumov-Sachs (K-S) type...
December 2017: Micron: the International Research and Review Journal for Microscopy
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#20
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
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