keyword
https://read.qxmd.com/read/35560437/the-lighter-side-of-aviation-medicine-during-world-war-2-aviation-gremlins
#21
JOURNAL ARTICLE
Jay B Dean
Aviation Gremlins are defined as "Mythical elves, upon whom military pilots are said to blame all their troubles and sometimes their good luck." Reference to the mischievous Gremlin first appears in the Royal Air Force (RAF) in 1929; however, by World War 2 (1939-1945), the science of "Gremlinology" was firmly entrenched in RAF lore. By 1941, the first Gremlin sightings were reported at airfields in America and onboard warplanes of the U. S. Army Air Forces (USAAF). One of the most cantankerous, altitudinous Jinxes was the Strato-Gremlin who menaced the big Boeing B-17 Flying Fortress and its aircrew...
May 2022: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://read.qxmd.com/read/35040386/anatomy-of-an-american-football-game-player-to-player-contact-before-during-and-after-an-nfl-game-in-context-of-the-2020-covid-19-pandemic
#22
JOURNAL ARTICLE
Christina D Mack, Erin B Wasserman, Deverick J Anderson, Gabriel Farkas, Molly Delaney, Daniel Eichner, Kyle Johnston, Madeline K Lassiter, Emily Myers, Thom Mayer, Gary Solomon, Allen Sills
OBJECTIVES: To quantify levels of potential exposure to SARS-CoV-2 surrounding a typical professional American football game, with a focus on interactions on-field between teammates and opposing players before, during, and immediately after competition. METHODS: We examined across-Club consecutive interactions ≥2 minutes within 6 feet [1.8 meters] between athletes on opposing Clubs for all 2020 NFL regular season games (n=256). Cumulative interaction was measured for a representative subset (n=119; 46%) of games...
January 18, 2022: Physician and Sportsmedicine
https://read.qxmd.com/read/35019233/ehlers-danlos-myopathy-overlap-syndrome-caused-by-a-large-de-novo-deletion-in-col12a1
#23
Sandra Coppens, Laurence Desmyter, Manuel Koch, Semra Özcelik, Emily O'Heir, Patrick Van Bogaert, Catheline Vilain, Florence Christiaens
Autosomal dominant and recessive mutations in COL12A1 cause the Ehlers-Danlos/myopathy overlap syndrome. Here, we describe a boy with fetal hypokinesia, severe neonatal weakness, striking hyperlaxity, high arched palate, retrognathia, club feet, and pectus excavatum. His motor development was initially delayed but muscle strength improved with time while hyperlaxity remained very severe causing recurrent joint dislocations. Using trio exome sequencing and a copy number variation (CNV) analysis tool, we identified an in-frame de novo heterozygous deletion of the exons 45 to 54 in the COL12A1 gene...
January 12, 2022: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/34869735/evaluation-of-variability-in-gait-styles-used-by-dogs-completing-weave-poles-in-agility-competition-and-its-effect-on-completion-of-the-obstacle
#24
JOURNAL ARTICLE
Logan D Eicher, Arielle Pechette Markley, Abigail Shoben, Annika E Sundby, Nina R Kieves
Objective: The aim of this study was to evaluate and define paw placement patterns for canines completing the weave pole obstacle during canine agility trials. The secondary objectives were to determine the most efficient running style and completion percentages and provide a basis for future studies to evaluate the long-term implications of variants in weave style and predisposition to injury. We hypothesized that dogs would display definitive gait patterns and that a single stepping pattern would yield faster run times compared to double stepping patterns...
2021: Frontiers in Veterinary Science
https://read.qxmd.com/read/34477067/digital-clubbing-in-hereditary-hemorrhagic-telangiectasia-juvenile-polyposis-syndrome
#25
JOURNAL ARTICLE
Anna Mrzljak, Jelena Popić, Suzana Ožanić Bulić
Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu Syndrome) is a rare autosomal dominant vascular disorder characterized by the presence of multiple arteriovenous malformations (AVMs) and recurrent bleeding episodes. The diagnosis is based on the Curacao criteria: (i) spontaneous recurrent epistaxis, (ii) mucocutaneous telangiectasia, (iii) AVMs of visceral organs, and (iv) first degree relatives with a similar condition (1). Due to a common genetic pathway and SMAD4 gene mutation, juvenile polyposis syndrome (JPS) may coexist with HHT (2)...
April 2021: Acta Dermatovenerologica Croatica: ADC
https://read.qxmd.com/read/34252586/further-refining-the-critical-region-of-10q26-microdeletion-syndrome-a-possible-involvement-of-insyn2-and-nps-in-the-cognitive-phenotype
#26
JOURNAL ARTICLE
Florian Cherik, Mathis Lepage, Ganaelle Remerand, Christine Francannet, Amélie Delabaere, Gaëlle Salaun, Céline Pebrel-Richard, Laetitia Gouas, Philippe Vago, Andrei Tchirkov, Carole Goumy
BACKGROUND: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear. CASE PRESENTATION: We report two new cases of 860 kb deletion of 10q26.2 identified by array CGH in a fetus with intrauterine growth retardation and his mother. The deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS and FOX12. The proband had dysmorphic facies characterized by a high forehead, malformed ears, a prominent nose, and retrognathia...
September 2021: European Journal of Medical Genetics
https://read.qxmd.com/read/34211315/deficits-in-the-star-excursion-balance-test-and-golf-performance-in-elite-golfers-with-chronic-low-back-pain
#27
JOURNAL ARTICLE
Yi-Chien Peng, Chung-Yuan Hsu, Wen-Tzu Tang
The purpose of this study was to investigate whether low-handicap elite golfers with chronic low back pain (CLBP) exhibit deficits in dynamic postural control and whether CLBP affects golfers in terms of their golf swing parameters. A total of fifteen Division 1 college golfers were recruited as participants. Of these, six of whom experienced CLBP, while the remaining participants were healthy. In this study, CLBP was defined as experiencing chronic pain symptoms for more than six months. The Star Excursion Balance Test (SEBT) was administered to examine dynamic posture control in both groups...
June 2021: Journal of Sports Science & Medicine
https://read.qxmd.com/read/34173015/management-of-neglected-clubfoot-in-children-using-ilizarov-external-fixator-and-minimal-invasive-surgery-sub-saharan-africa-experience
#28
JOURNAL ARTICLE
Mohamed Fadel, Mohamed Fawzy Kandil
PURPOSE: To evaluate the outcomes of Ilizarov external fixator (IEF) and minimal invasive surgery (MIS) in correction of neglected club foot (NCF). METHODS: Thirty-seven feet in 24 child, between five and 15 years old were diagnosed as NCF. All were treated with Achilles tendon lengthening (ATL) and IEF for gradual correction. After IEF removal, cast was applied for six weeks to maintain correction of the deformity. RESULTS: There were 20 boys and four girls...
January 2022: International Orthopaedics
https://read.qxmd.com/read/34122765/treatment-of-relapsed-and-neglected-pes-equinovarus-with-binary-arthrodesis-and-hexapodal-spider-frame
#29
JOURNAL ARTICLE
Ibrahim Karaman, Ramazan Ilter Ozturk, Yigit Umur Cirdi, Mithat Oner
Purpose: The aim of this study was to assess the clinical and radiological outcomes of patients with recurrent or neglected pes equinovarus (PEV), who underwent talonavicular or calcaneocuboid arthrodesis with a hexapod spider frame. Methods: The study included 18 patients; a total of 25 feet were treated with dual arthrodesis and a hexapod spider frame. The International Club Foot Study Group (ICFSG) scoring system and visual analog scale (VAS) were used to assess preoperative status and postoperative outcomes...
May 2021: Indian Journal of Orthopaedics
https://read.qxmd.com/read/34036147/detection-of-a-recurrent-tmem38b-gene-deletion-associated-with-recessive-osteogenesis-imperfecta
#30
JOURNAL ARTICLE
Khushnooda Ramzan, Maha Alotaibi, Rozeena Huma, Sibtain Afzal
Osteogenesis imperfecta is a clinically and genetically group of heterogeneous disorders associated with decreased bone density, brittle bones, bone deformity, recurrent fractures, and growth retardation. Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2). Mutations in other genes, some associated with type I collagen post-translational processing, have also been identified as the cause of osteogenesis imperfecta. Mutations in the transmembrane protein 38B (TMEM38B) gene have been reported in a rare autosomal recessive form of osteogenesis imperfecta...
March 31, 2021: Discoveries
https://read.qxmd.com/read/34027406/differential-diagnosis-of-acromegaly-pachydermoperiostosis-two-new-cases-from-turkey
#31
JOURNAL ARTICLE
Emine Kartal Baykan, Ayberk Türkyılmaz
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated insulin-like growth factor 1 levels, and is characterised by somatic overgrowth and physical disfigurement, notably affecting hands and feet. We present two cases referred with an initial diagnosis of acromegaly that were ultimately diagnosed as PDP. Case 1: A 17 year-old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening of facial skin lines and forehead skin, and excessive sweating which increased gradually over five years...
August 25, 2022: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/34016540/magnetic-resonance-imaging-of-severe-idiopathic-club-foot-treated-with-one-week-accelerated-ponseti-owap-technique
#32
JOURNAL ARTICLE
Alaaeldin Azmi Ahmad, Ahmed F Ghanem, Jihad M Hamaida, Mosab S Maree, Loai J Aker, Mohammed I Abu Kamesh, Suliman N Berawi, Mo'ath S Abu Hamdeh
PURPOSE: This study aims to evaluate changes in tarsal bones relationship after the use of one week accelerated Ponseti method in the treatment of severe idiopathic clubfoot using MRI. We hypothesize that one-week accelerated Ponseti is at least as effective as standard techniques in achieving the desirable MRI parameters. METHODS: This is a prospective study of 8 children with severe idiopathic clubfeet (Pirani 6) (4 unilateral and 4 bilateral) treated before the age of three months with one-week accelerated Ponseti technique, as described in a former study with minimum 2-year follow-up...
April 2022: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://read.qxmd.com/read/33778969/mid-trimester-absent-nasal-bone-and-transient-unilateral-hydronephrosis-associated-with-16p13-3-microduplication
#33
David M Sherer, Vicky Hsieh, Mila Kheyman, Alessia Field, Mudar Dalloul
Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene. Findings indicate this gene to be dosage-sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13...
March 28, 2021: Journal of Clinical Ultrasound: JCU
https://read.qxmd.com/read/33758137/pachydermoperiostosis-presenting-with-vision-loss-secondary-to-severe-phlyctenular-keratoconjunctivitis
#34
JOURNAL ARTICLE
Shuk Kei Cheng, Anika Michael, Allison E Rizzuti
PURPOSE: To report a case of severe phlyctenular keratoconjunctivitis in a patient with pachydermoperiostosis (PDP). METHODS: A 29-year-old Hispanic man presented with a 1-year history of vision loss in the right eye and redness, photophobia, and pain in both eyes. Associated symptoms included enlargement of his hands and feet for 3 years, acne, and joint pain. Examination was notable for severe meibomian gland dysfunction, corneal and limbal phlyctenules in both eyes, and central stromal scarring of the right cornea...
April 1, 2021: Cornea
https://read.qxmd.com/read/32513120/a-chinese-case-of-nakajo-nishimura-syndrome-with-novel-compound-heterozygous-mutations-of-the-psmb8-gene
#35
JOURNAL ARTICLE
Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang, Songmei Geng
BACKGROUND: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fingers and toes with joint contractures, partially with progressive lipomuscular atrophy, emaciation, hepatosplenomegaly and basal ganglion calcification. CASE PRESENTATION: We presented a sporadic case of NNS with compound heterozygous mutations in the PSMB8 gene...
June 8, 2020: BMC Medical Genetics
https://read.qxmd.com/read/32468991/results-of-jess-joshi-s-external-stabilizing-system-in-relapsed-neglected-and-neurogenic-clubfoot-in-an-age-group-of-2-10-years
#36
JOURNAL ARTICLE
Kawoosa A Altaf, Syed Baasit Shafi Shah, Shafeeq Ahmad, Umar Mumtaz, Sayar Ahmad Mantoo
BACKGROUND: Joshi's External Stabilization System (JESS) is an external fixator based methodology to correct different deformities of club foot using differential distraction. MATERIAL AND METHODS: 31 difficult clubfeet feet in 24 patients who were neglected, neurogenic or relapsed were treated using JESS between July 2013 to June 2015 with an average follow-up of 4. 2 years. There were 16 males and 8 females in an age group of 2-10 years. 30 feet belonged to the severe and most severe group as per the Dimeglio Scoring System...
April 30, 2020: Ortopedia, Traumatologia, Rehabilitacja
https://read.qxmd.com/read/32158879/touraine-solente-gole-syndrome-clinical-manifestation-with-bilateral-true-eyelid-ptosis
#37
JOURNAL ARTICLE
Nutthawut Akaranuchat, Papassorn Limsuvan
Touraine-Solente-Gole syndrome (pachydermoperiostosis [PDP] or primary idiopathic hypertrophic osteoarthropathy [HOA]) is a rare hereditary disorder that is characterized by a triad of manifestations that consists of skin changes (pachydermia), abnormal bone and joint manifestations (periostosis and/or artritis), and digital clubbing (acropachia). Here, we report the case of 24-year-old male who presented with severe bilateral true eyelid ptosis. Physical examination revealed severe ptosis with poor function of the levator palpabrae superioris muscle, thickening of and deep grooves in facial skin (especially at the frontal region), and abnormal appearance of the scalp with accentuating folds and deep furrows (cutis verticis gyrata)...
September 2019: JPRAS Open
https://read.qxmd.com/read/31967073/thyroid-acropachy-a-rare-manifestation-of-graves-disease-in-joints
#38
Nicolas Perini, Roberto Bernardo Santos, João Hamilton Romaldini, Danilo Villagelin
Objective: The objective of this report was to describe a patient with Graves acropachy, a rare manifestation of Graves disease (GD) that is clinically defined by skin tightness, digital clubbing, small-joint pain, and soft tissue edema progressing over months or years with gradual curving and enlargement of the fingers. Methods: The patient was evaluated regarding thyroid function (serum free T4 [FT4] and thyroid-stimulating hormone [TSH] quantifications) and autoimmunity biomarkers (thyroid receptor antibody [TRAb]) as well as radiographic investigation of the extremities...
November 2019: AACE Clinical Case Reports
https://read.qxmd.com/read/31725558/physical-fitness-and-anthropometric-values-among-lithuanian-primary-school-children-population-based-cross-sectional-study
#39
JOURNAL ARTICLE
Arunas Emeljanovas, Brigita Mieziene, Vida Janina Cesnaitiene, Ingunn Fjortoft, Lise Kjønniksen
Emeljanovas, A, Mieziene, B, Cesnaitiene, VJ, Fjortoft, I, and Kjønniksen, L. Physical fitness and anthropometric values among Lithuanian primary school children: population-based cross-sectional study. J Strength Cond Res XX(X): 000-000, 2019-The purpose of the current study was to derive representative reference scores on anthropometric measures and test scores for the musculoskeletal, motor, and cardiorespiratory fitness of Lithuanian primary school children according to age and sex. This cross-sectional design study included 3,456 Lithuanian first- to fourth-grade children from age 6 to 10 years...
November 13, 2019: Journal of Strength and Conditioning Research
https://read.qxmd.com/read/31299821/prediction-of-number-of-casts-and-need-of-tenotomy-using-pirani-score-in-the-management-of-clubfoot
#40
JOURNAL ARTICLE
Sileshi Ayehualem, Yared Asmare, Mueez Abrha, Abebe Muche
BACKGROUND: Clubfoot also called as congenital tailpipes equinovarus is a complex ankle and foot deformity characterized by forefoot adduction and supination, midfoot cavus and hindfoot varus and equinus. It is estimated that more than 100,000 babies are born each year worldwide with clubfoot, and 80% are seen in developing nations. Different scoring systems are used for grading the severity of deformity or monitoring the natural history of clubfoot. The Pirani scoring system is now routinely used in most clubfoot clinics, including Cure Ethiopia, Children's Hospital...
July 2019: Journal of Craniofacial Surgery
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