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https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#1
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27909213/hammertoe-correction-with-k-wire-fixation-compared-with-percutaneous-correction
#2
Mustafa Yassin, Avraham Garti, Eyal Heller, Dror Robinson
BACKGROUND: Kirschner wire (K-wire) fixation for correction of hammertoe deformity is the gold standard for hammertoe surgery fixation, the current study compares it to percutaneous surgery with 3M Coban dressings. METHODS: All hammertoe corrections performed were retrospectively reviewed. For the K-wire fixation group: resection arthroplasty of the proximal interphalangeal joint was performed and fixed with a K-wire. The percutaneous technique used involved percutaneous diaphyseal osteotomy of the middle and proximal phalanges combined with tendon release...
November 30, 2016: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/27909133/the-use-of-the-distal-radius-and-ulna-classification-for-the-prediction-of-growth-peak-growth-spurt-and-growth-cessation
#3
J P Y Cheung, P W H Cheung, D Samartzis, K M C Cheung, K D K Luk
AIMS: We report the use of the distal radius and ulna (DRU) classification for the prediction of peak growth (PG) and growth cessation (GC) in 777 patients with idiopathic scoliosis. We compare this classification with other commonly used parameters of maturity. PATIENTS AND METHODS: The following data were extracted from the patients' records and radiographs: chronological age, body height (BH), arm span (AS), date of menarche, Risser sign, DRU grade and status of the phalangeal and metacarpal physes...
December 2016: Bone & Joint Journal
https://www.readbyqxmd.com/read/27904227/synostosis-of-proximal-phalangeal-bases-for-loss-of-distal-metacarpal
#4
Pankaj Jindal
A finger rendered unstable due to loss of metacarpal head can be stabilized by creating a synostosis at the base of the proximal phalanx of the affected finger with the adjacent normal finger. A cortico cancellous graft bridges the two adjacent proximal phalanges at their bases which are temporarily stabilized with an external fixator. The procedure can be done for, recurrence of giant cell tumor of metacarpal and for traumatic metacarpal loss. The procedure and long term follow up of one patient is presented who had giant cell tumor...
November 2016: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/27897183/sensory-thresholds-at-different-sites-of-the-foot-a-valuable-reference-for-neurologic-examinations
#5
J-W Zhang, Q Wang, X-F Wang, M-M Gao, X-P Yun, H-F Wu, Y Hong
STUDY DESIGN: Prospective healthy volunteer study for sensory thresholds. OBJECTIVES: The aim of this study was to test sensory thresholds at different sites of the foot to provide a reference for diagnosis and neurologic classification. SETTING: A university hospital for the research and clinical practice of rehabilitation. METHODS: Thirty healthy volunteers were recruited, and quantitative sensory testing was performed on three sites of the foot (medial malleolus (for the L4 dermatome), dorsum of the foot at the third metatarsal phalangeal joint (for the L5 dermatome) and lateral heel (for the S1 dermatome))...
November 29, 2016: Spinal Cord
https://www.readbyqxmd.com/read/27896205/congenital-multiple-metatarsal-synostoses-with-proximal-phalangeal-deformities-of-the-foot
#6
Ai Yokoyama, Norio Fukuda, Hirotaka Asato
No abstract text is available yet for this article.
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27882577/sesamoid-bones-in-tuatara-sphenodon-punctatus-investigated-with-x-ray-microtomography-and-implications-for-sesamoid-evolution-in-lepidosauria
#7
Sophie Regnault, John R Hutchinson, Marc E H Jones
Sesamoids bones are small intra-tendinous (or ligamentous) ossifications found near joints and are often variable between individuals. Related bones, lunulae, are found within the menisci of certain joints. Several studies have described sesamoids and lunulae in lizards and their close relatives (Squamata) as potentially useful characters in phylogenetic analysis, but their status in the extant outgroup to Squamata, tuatara (Sphenodon), remains unclear. Sphenodon is the only living rhynchocephalian, but museum specimens are valuable and difficult to replace...
November 24, 2016: Journal of Morphology
https://www.readbyqxmd.com/read/27882254/nicolau-syndrome-due-to-penicillin-injection-a-report-of-3-cases-without-long-term-complication
#8
Sara Memarian, Behdad Gharib, Mohammd Gharagozlou, Hosein Alimadadi, Zahra Ahmadinejad, Vahid Ziaee
Nicolau syndrome (NS) or livedo-like dermatitis is a rare complication of injection of various medications such as penicillin. The pathophysiology of this events is not clear, but some hypotheses are suggested, such as sympathetic nerve stimulation, embolic occlusion, inflammation, or mechanical injury. In this paper we report 3 cases of NS following benzathine penicillin. Clinical symptoms improved in 2 cases during 2-month follow-up, but one of them had a residual necrosis in the distal phalanges of the toes...
2016: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/27873085/quantitative-analysis-of-supporting-cell-subtype-labeling-among-creer-lines-in-the-neonatal-mouse-cochlea
#9
Melissa M McGovern, Joseph Brancheck, Auston C Grant, Kaley A Graves, Brandon C Cox
Four CreER lines that are commonly used in the auditory field to label cochlear supporting cells (SCs) are expressed in multiple SC subtypes, with some lines also showing reporter expression in hair cells (HCs). We hypothesized that altering the tamoxifen dose would modify CreER expression and target subsets of SCs. We also used two different reporter lines, ROSA26 (tdTomato) and CAG-eGFP, to achieve the same goal. Our results confirm previous reports that Sox2 (CreERT2) and Fgfr3-iCreER (T2) are not only expressed in neonatal SCs but also in HCs...
November 21, 2016: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/27869420/trichorhinophalangeal-syndrome-type-ii-presenting-with-short-stature-in-a-child
#10
Filiz Hazan, Hüseyin A Korkmaz, Kanay Yararbaş, Wim Wuyts, Ajlan Tükün
Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27857526/functional-salvage-of-a-hand-after-unsuccessfull-attempt-of-replantation
#11
Ileana Rodica Matei, Alexandru Valentin Georgescu
Amputation by crush injuries generally represents a contraindication for replantation, and especially when the lesion is caused by the summation of multiple concomitant traumatic mechanisms. We present the case of a 22 year- old female who arrived in our service with a crush/torsion amputation of all long fingers at the metacarpo-phalangeal level of the right hand. After the unsuccessful attempt of replantation, the functional reconstruction of the hand was achieved by using a double free flap transfer: anterolateral thigh perforator flap (ALT) and digital block transfer of second and third toes...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27848072/hamate-hook-nonunion-initially-mistaken-for-ulnar-nerve-compression-a%C3%A2-case-report-with-review-of-literature
#12
Mario Josipovic, Dorotea Bozic, Ivan Bohacek, Tomislav Smoljanovic, Ivan Bojanic
BACKGROUND: Hamate hook (HH) stress fractures are rare, often presenting with misleading symptoms and easily overlooked/misdiagnosed. These fractures occur frequently in individuals participating in sports activities involving racquets, bats, or clubs. Symptoms are non-specific and often mimic other clinical conditions, such as ulnar nerve entrapment or ulnar vessel thrombosis. CASE REPORT: A 17-year-old tennis player with no history of trauma presented with dominant hand weakness together with pain and paresthesia on the ulnar side, which exacerbated with tennis play...
November 15, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27847022/an-exceptional-location-of-tuberculous-arthritis-the-metatarsal-phalangeal-joint
#13
Mohamed Ali Sbai, Sofien Benzarti, Wafa Gharbi, Wadia Khoffi, Riadh Maalla, Adel Khorbi
Osteoarticular tuberculosis is a rare type of tuberculosis. The spine is the most frequent location, while peripheral locations in the limbs are rare. We report a case of tuberculous osteoarthritis of the metatarsophalangeal joint of the first ray of the foot in a 48-year-old woman. The patient presented with painful swelling of the dorsum of the big toe, insidiously evolving for 6months. Diagnosis was obtained with histological study after surgical biopsy. Antitubercular chemotherapy for 12months promoted healing...
September 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/27846351/-dislocation-of-the-extensor-tendons-of-the-hand-at-the-metacarpo-phalangeal-level-zone-v-of-verdan
#14
J M Fernández-Vázquez, U Ayala-Gamboa
MATERIAL AND METHODS: Traumatic dislocation of the extensor tendon over the metacarpophalangeal (MCP) joint is a rare lesion that is caused by the dysfunction or rupture of the sagittal band, which is an important stabilizing structure of the extensor tendon. This mechanical alteration presents itself as instability that affects function and may cause pain or snapping during finger motion. The diagnosis is made when ulnar dislocation of the extensor tendon is observed over the MCP joint...
March 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/27843512/microgeodic-disease-affecting-the-fingers-and-toes-in-childhood-a-case-report
#15
Tomonori Tetsunaga, Hirosuke Endo, Kazuo Fujiwara, Tomoko Tetsunaga, Toshifumi Ozaki
Microgeodic disease is a disease of unknown etiology that affects the fingers and toes of children, with ≥ 90% of cases involving the fingers alone. We present a rare case of microgeodic disease affecting an index finger and two toes simultaneously in a 7-year-old girl. X-ray and magnetic resonance imaging (MRI) showed multiple small areas of osteolysis in the middle phalanges of the left index finger, hallux, and second toe. Microgeodic disease was diagnosed from X-ray and MRI findings, and conservative therapy involving rest and avoidance of cold stimuli was provided...
2016: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/27829936/ultrasound-guided-arthroscopic-management-of-hallux-rigidus
#16
Łukasz M Paczesny, Jacek Kruczyński
INTRODUCTION: The use of metatarso-phalangeal joint arthroscopy in the treatment of osteochondritis dissecans was first described in 1988. The technique produces good results. However, it can be difficult to enter a joint when it is deformed by degenerative disease. Sonography is a modern visualisation modality which can be used in orthopaedic surgery. AIM: To describe a method of intraoperative sonographic navigation during first metatarso-phalangeal joint arthroscopy...
2016: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/27809297/diabetes-and-obesity-as-independent-risk-factors-for-osteoporosis-updated-results-from-the-rois-emeros-registry-in-a-population-of-five-thousand-post-menopausal-women-living-in-a-region-characterized-by-heavy-environmental-pressure
#17
Cosimo Neglia, Alberto Argentiero, Giovanna Chitano, Nadia Agnello, Roberta Ciccarese, Antonella Vigilanza, Valerio Pantile, Domenico Argentiero, Raffaele Quarta, Matteo Rivezzi, Gian Luca Di Tanna, Carolina Di Somma, Alberto Migliore, Giovanni Iolascon, Francesca Gimigliano, Alessandro Distante, Prisco Piscitelli
Objectives: We aimed to analyze bone mineralization and the effect of different risk factors for osteoporosis in postmenopausal women. Methods: We found 4909 postmenopausal subjects within ≥10,000 records from the ROIS/EMEROS (Ionian and Salento Osteoporosis Registry/Euro Mediterranean Registry of Osteoporosis) registry, a population study carried out in an area characterized by heavy environmental pressure between Brindisi and Taranto from 2009 to 2016. All subjects were assessed via phalangeal quantitative ultrasound (QUS) to evaluate their bone mineralization (assessed via amplitude dependent speed of sound (AD-SoS)) and the association between demineralization and the presence of other conditions or risk factors...
November 1, 2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27800079/-osteosynthesis-of-fractures-of-the-metacarpals-and-phalanges-of-the-hand-with-mini-plate-about-12-cases
#18
Erraji Moncef, Derfoufi Abdelhafid, Kharraji Abdessamad, Agoumi Omar, Abdeljaouad Najib, Daoudi Abdelkrim, Yacoubi Hicham
Treatment of unstable fractures of metacarpals and phalanges remains subject of controversy. Few series have been reported in the literature, making their analysis difficult. We provide a retrospective study involving 12 patients, operated on by this technique for displaced fractures of the metacarpals and phalanges, over a two year period. The final overall results were good in 75% of the cases, average in 16,5% of the cases and bad in 8,5% of the cases. Stability of mini plates in unstable fractures of the metacarpals and phalanges allowed early mobilization of hand joints, thus avoiding stiffness...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27796661/acro-osteolysis
#19
Anna Botou, Athanasios Bangeas, Ioannis Alexiou, Lazaros I Sakkas
Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal digital ischemia, digital calcinosis, or severe sensory neuropathy. Acro-osteolysis has been associated with a heterogeneous group of disorders, including occupational activities, infections, rheumatic disorders (systemic sclerosis, psoriatic arthritis), endocrinopathies, genetic disorders, and lysosomal storage disorders...
October 29, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27790535/simultaneous-bennett-s-fracture-dislocation-and-dorsal-fracture-dislocation-of-inter-phalangeal-joint-of-thumb-a-case-report
#20
Narendran Pushpasekaran, Vishal Shekhawat, Sathyamurthy Palanisamy, Balu Ravi, Deepak Gupta
Simultaneous closed double dislocations of the hand are not a common presentation. We hereby report a 40-year-old male patient with an unusual presentation of Bennett's fracture/dislocation associated with dorsal fracture dislocation of the interphalangeal joint of thumb along with its management by Open Reduction and Internal Fixation (ORIF) with K-wires and physiotherapy. The patient had near normal functions after three months.
September 2016: Journal of Clinical and Diagnostic Research: JCDR
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