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https://www.readbyqxmd.com/read/29681086/a-novel-homozygous-mutation-in-the-slco2a1-gene-causing-pachydermoperiostosis-efficacy-of-hydroxychloroquine-treatment
#1
Annalisa Alessandrella, Roberto Della Casa, Maria Alessio, Jorge Puente Prieto, Pietro Strisciuglio, Daniela Melis
Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17-year-old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin face with seborrhea from about 4 years. At the admission he also showed digital clubbing of both hands and feet and palmoplantar hyperhidrosis...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29514715/pachydermoperiostosis-in-a-patient-with-chronic-hepatitis-b-virus-infection-referred-as-acromegaly-a-case-report
#2
Yacoba Atiase, Ernest Yorke, Josephine Akpalu, Bismark Opoku-Asare, Patrick Adjei, Maame Boatemma Amissah-Arthur, Albert Akpalu
BACKGROUND: Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features. Vascular endothelial growth factors which have been implicated in the clinical features of pachydermoperiostosis, have also been shown to be present in chronic hepatitis and implicated in the malignant transformation of hepatitis B infection to hepatocellular carcinoma. To the best of our knowledge there is one reported case of pachydermoperiostosis with chronic hepatitis B infection...
March 8, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29453587/trimorphic-extreme-clubfoot-deformities-and-their-management-by-triple-surgical-skin-expanders-dolar-dolarz-and-dolarz-e-evidence-based-mega-corrections-without-arthrodesis
#3
Rattan L Mittal
AIM/PURPOSE: Extreme congenital club foot deformities are common in developing countries, presenting at birth, persisting in children, adolescents and adults; as untreated/under-corrected by conservative and/or surgical means. Scores of confusing names exist in literature for such deformities with no good treatment available; mostly advocating unacceptable arthrodesis. The author researched this grey area for more than 40 years and successfully innovated improved surgical corrections, more acceptable to patients...
February 17, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/29381521/extended-ponseti-method-for-failed-tenotomy-in-idiopathic-clubfeet-a-pilot-study
#4
Anil Agarwal, Nargesh Agrawal, Sitanshu Barik, Neeraj Gupta
We evaluated the outcome of a new protocol of an extended Ponseti method in the management of idiopathic club foot with residual equinus following failed Achilles tenotomy. We also compared the failed with a successful tenotomy group to analyze the parameters for failure. The Ponseti technique-treated idiopathic club foot patients with failed percutaneous Achilles tenotomy (failure to achieve <15° dorsiflexion) were treated by continued stretching casts, with a weekly change for a further 3 weeks. Final dorsiflexion more than 15° if achieved with the above protocol was recorded as a success...
January 29, 2018: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/29208888/polyarthritis-is-a-rare-manifestation-of-pachydermoperiostosis-a-case-report
#5
M F Ahmmed, M N Shazzad, S Ferdous, A K Azad, S A Haq
Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Gole syndrome, is a rare process, frequently inherited. In its complete form it is characterized by pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). Diagnosis can be made considering the typical clinical features and the histological feature. We report a patient of 25-year old man presented with joint pain involving in multiple joints for last 7 years and progressive enlargement of his hands and feet with profuse sweating of palms and soles for last 4 years...
October 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29202503/quantitative-analysis-and-development-of-the-fore-feet-of-arabian-foals-from-birth-to-1-year-of-age
#6
Babak Faramarzi, Allison Salinger, Andris Kaneps, Yvette Nout-Lomas, Holly Greene, Fanglong Dong
Objectives  The goal of this study was to quantify external and internal anatomical characteristics of the foal foot throughout the first year of age. Methods  Digital radiographs and photographs were taken bimonthly of the forefeet of nine Arabian foals, beginning at about 2 weeks of age until 12 months of age. Sixty-eight linear and angular variables were measured using NIH (National Institutes of Health) Image J software. Statistical analyses were performed using piecewise random coefficient model and p -values < 0...
November 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28963580/impact-energy-of-everyday-items-used-for-assault
#7
Lea Siegenthaler, Florian D Sprenger, Beat P Kneubuehl, Christian Jackowski
Blunt force is a frequently used type of violence especially because it can be performed with basically every object of our daily lives or with bare hands or feet. The injuries and medical consequences have been widely examined, whereas the forces and especially the energies acting on impact have rarely been analyzed. The aim of the present study is to provide the impact energy and its ranges of four longish everyday items with different characteristics for male and female offenders. Additionally, the moment of inertia (MOI) for all the objects was calculated and its influence on the energy determined...
January 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#8
V Seta, Y Capri, M Battistella, M Bagot, E Bourrat
BACKGROUND: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. PATIENTS AND METHODS: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene...
September 12, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28738667/toe-grip-strength-in-middle-aged-individuals-as-a-risk-factor-for-falls
#9
Ryota Tsuyuguchi, Satoshi Kurose, Takayuki Seto, Nana Takao, Satoshi Tagashira, Hiromi Tsutsumi, Shingo Otsuki, Yutaka Kimura
BACKGROUND: Toe grip strength is the force of a toe on a surface. The objective of this study was to investigate the relationship between falls in middle-aged individuals and physical strength factors such as toe grip strength and knee extension strength. METHODS: The subjects were 194 middle-aged individuals (388 feet) who were independent in daily life, received no nursing care, and participated in a health sports event organized by a sports club. We evaluated the body composition, blood pressure, vascular age, systemic response, bone density, knee extension strength, and toe grip strength, and examined their relationship using a self-administered questionnaire survey...
July 24, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28718240/ponseti-technique-for-management-of-congenital-idiopathic-club-foot
#10
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/28676249/clinicopathologic%C3%A2-conference-a-newborn-with-hypotonia-cleft-palate-micrognathia-and-bilateral-club-feet
#11
Megan A Waldrop, Daniel R Boue, Emily Sites, Kevin M Flanigan, Richard Shell
No abstract text is available yet for this article.
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28670357/raising-awareness-among-healthcare-providers-about-epidermolysis-bullosa-and-advancing-toward-a-cure
#12
REVIEW
Aaron Tabor, Joseph V Pergolizzi, Guy Marti, John Harmon, Bernard Cohen, Jo Ann Lequang
Objective: Epidermolysis bullosa (EB) is an orphan disease that affects about half a million people worldwide, but may not be familiar to all clinicians. The authors' goal was to present a short description of this condition and current research in the form of a narrative review. Methods: The authors reviewed the literature on epidermolysis bullosa in order to describe the condition and current genetic research. Results: There are at least 31 subtypes of EB, including junctional EB, dystrophic EB, and Kindler syndrome...
May 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28632662/treatment-of-incomplete-jones-fractures-with-low-intensity-pulsed-ultrasound-lipus
#13
Tateishi Tomohiko, Tsuyoshi Nagase, Teruhiko Nakagawa, Tsuchiya Masamitsu
OBJECTIVE: Stress fractures of the proximal epiphysis of the fifth metatarsal bone (termed Jones fracture) frequently occur in both senior high-school-age and older contestant-level soccer players, and its incidence in Japanese soccer players is higher than that in European players. Surgery is most commonly indicated for a complete fracture, and about 3 months are required before the patient is able to return to the sport. We have performed a "Jones fracture screening" to reduce the incidence of these fractures...
July 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28469926/primary-hypertrophic-osteoarthropathy-due-to-a-novel-slco2a1-mutation-masquerading-as-acromegaly
#14
Ruth Mangupli, Adrian F Daly, Elvia Cuauro, Paul Camperos, Jaime Krivoy, Albert Beckers
SUMMARY: A 20-year-old man with an 8-year history of progressive enlargement of his hands and feet, coarsening facial features, painful joints and thickened, oily skin was referred for investigation of acromegaly. On examination, the subject was of normal height and weight. He had markedly increased skin thickness around the forehead, eyelids and scalp with redundant skin folds. Bilateral painful knee swelling was accompanied by enlargement of the extremities, and his fingers were markedly clubbed...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28444437/range-limitation-in-hip-internal-rotation-and-fifth-metatarsal-stress-fractures-jones-fracture-in-professional-football-players
#15
Yoshitomo Saita, Masashi Nagao, Takayuki Kawasaki, Yohei Kobayashi, Keiji Kobayashi, Hiroki Nakajima, Yuji Takazawa, Kazuo Kaneko, Hiroshi Ikeda
PURPOSE: To identify unknown risk factors associated with fifth metatarsal stress fracture (Jones fracture). METHODS: A case-controlled study was conducted among male Japanese professional football (soccer) players with (N = 20) and without (N = 40) a history of Jones fracture. Injury history and physical examination data were reviewed, and the two groups were compared. Univariate and multivariate logistic regression controlling for age, leg dominance and body mass index were used to obtain odds ratios (ORs) and 95% confidence intervals (CIs) to describe the association between physical examination data and the presence or absence of Jones fractures...
April 25, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28384947/comparative-analysis-between-podography-and-radiography-in-the-management-of-idiopathic-clubfeet-by-ponseti-technique
#16
Vikas Trivedi, Sumit Badhwar, Abhay S Dube
INTRODUCTION: Idiopathic clubfoot is one of the most common and oldest congenital foot anomalies. There are controversies regarding its optimum management protocol and methodologies to be employed for its functional outcome evaluation. This paper attempts to propose a simple, reasonable and easily reproducible technique of podography for clinical and functional evaluation of clubfoot treated by the popular Ponseti technique. AIM: To compare the Foot Bimalleolar (FBM) angle method (podography) and radiography with respect to management of idiopathic clubfoot by Ponseti's Technique and its functional evaluation...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28216755/interobserver-variability-in-pirani-clubfoot-severity-scoring-system-between-the-orthopedic-surgeons
#17
Saurabh Jain, Anand Ajmera, Mahendra Solanki, Alok Verma
BACKGROUND: Congenital talipes equinovarus (clubfoot) is one of the most common congenital pediatric orthopedic foot deformity, which varies in severity and clinical course. Assessment of severity of the club foot deformity is essential to assess the initial severity of deformity, to monitor the progress of treatment, to prognosticate, and to identify early relapse. Pirani's scoring system is most acceptable and popular for club foot deformity assessment because it is simple, quick, cost effective, and easy...
January 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#18
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#19
REVIEW
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
2017: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27731569/pachydermoperiostosis
#20
Renu Saigal, Alok Chaudhary, Prashant Pathak, Amandeep Singh, Deepak Gupta, M L Tank
A case of Pachydermoperiostosis (PDP) presented to us in rheumatology clinic with complaints of enlargement and broadening of bilateral hands and feet, grade IV digital clubbing, coarsening of facial features, excessive sweating of the palms, soles during summers.
March 2016: Journal of the Association of Physicians of India
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