keyword
https://read.qxmd.com/read/37752557/novel-homozygous-frameshift-variant-in-the-atcay-gene-in-an-iranian-patient-with-cayman-cerebellar-ataxia-expanding-the-neuroimaging-and-clinical-features-a-case-report
#21
JOURNAL ARTICLE
Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi
BACKGROUND: Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic gait and dysarthric in some cases. CASE PRESENTATION: Whole exome sequencing was performed for a 21-month-old girl suffering from developmental delay specifically in motor and language aspects, hypotonia, nystagmus, pes planus and strabismus...
September 26, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37732108/ultrasound-of-the-plantar-foot-a-guide-for-the-assessment-of-plantar-intrinsic-muscles
#22
JOURNAL ARTICLE
Federico Zaottini, Riccardo Picasso, Federico Pistoia, Maribel Miguel Perez, Deborah Bianco, Rinaldi Simone, Gabriele Rossi, Marta Macciò, Michelle Pansecchi, Luca Tovt, Carlo Martinoli
Plantar intrinsic muscles play a pivotal role in posture control and gait dynamics. They help maintain the longitudinal and transverse arches of the foot, and they regulate the degree and velocity of arch deformation during walking or running. Consequently, pathologies affecting the plantar intrinsic muscles (for instance, acquired and inherited neuropathies) lead to foot deformity, gait disorders, and painful syndromes. Intrinsic muscle malfunctioning is also associated with multifactorial overuse or degenerative conditions such as pes planus, hallux valgus, and plantar fasciitis...
September 2023: Journal of Ultrasonography
https://read.qxmd.com/read/37731240/anatomical-features-of-the-tarsal-sinus-in-patients-with-pes-planus-implications-for-clinical-management
#23
JOURNAL ARTICLE
Taiyuan Guan, Yong Ma
BACKGROUND In the treatment of pes planus, if the implant does not match the anatomical structures of the sinus tarsi, synovitis can develop, causing pain symptoms. In the interest of making clinical recommendations for extra-osseous talotarsal stabilization, the goal of the present study was to characterize the anatomical characteristics of the sinus tarsi in patients with pes planus using magnetic resonance imaging (MRI) scans. MATERIAL AND METHODS This was a retrospective study involving 56 pes planus patients and 56 healthy volunteers from January 2014 to May 2022...
September 21, 2023: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://read.qxmd.com/read/37706418/soft-syndrome-with-kohlschutter-tonz-syndrome
#24
S A Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar
We report a 2.2 year-old-boy, born of consanguineous marriage, referred for short stature, with history of neonatal death and skeletal deformities in his older sibling. Rhizo-mesomelic dwarfism was detected antenatally. Within 24 hours of birth, he developed multiple seizures. Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth, pointed chin, and triangular facies. He had rhizomelic shortening, stubby fingers, pes planus, and scanty hair...
September 7, 2023: Journal of Postgraduate Medicine
https://read.qxmd.com/read/37695657/the-effectiveness-of-video-based-game-exercise-therapy-applications-in-pes-planus-rehabilitation-protocol-for-a-randomized-controlled-trial
#25
JOURNAL ARTICLE
Ayşe Büşra Erten, Devrim Tarakçı, Mehmet Akif Çaçan
BACKGROUND: Pes planus is one of the most common foot deformities. Although there are many studies on the effectiveness of various exercise methods in pes planus rehabilitation, the number of studies on video-based game exercise therapy applications is very limited. OBJECTIVE: This study aims to evaluate the effectiveness of 2 video-based game exercise therapies and structured exercise practices in pes planus rehabilitation. METHODS: This study is a 3-arm, parallel-group, single-blinded randomized controlled trial...
September 11, 2023: JMIR Research Protocols
https://read.qxmd.com/read/37691301/musculoskeletal-phenotypes-in-3q29-deletion-syndrome
#26
JOURNAL ARTICLE
Rebecca M Pollak, Jacob C Tilmon, Melissa M Murphy, Michael J Gambello, Rossana Sanchez Russo, John P Dormans, Jennifer G Mulle
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000-197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry of 206 individuals (3q29deletion.org) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire...
September 10, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37688658/sexual-dimorphism-and-determination-using-foot-outlines-foot-print-angles-and-foot-indices
#27
JOURNAL ARTICLE
Muritala Odidi Suleiman, Barnabas Danborno, Sunday Abraham Musa, James Abrak Timbuak
Sex determination is one of the fundamental procedures in the forensic investigation during personal identification. Foot dimensions, prints, indices, and angles are assessment tools used by podiatrists and forensic anthropologists. The arch index remains a tool for clinical evaluation of the incidence of pes planus by clinicians. This cross-sectional study was performed to investigate sexual dimorphism and discriminate sex using foot and footprint dimensions, foot angles, and foot indices among the Ebira ethnic group of Nigeria...
September 9, 2023: Forensic Science, Medicine, and Pathology
https://read.qxmd.com/read/37684180/cubonavicular-coalition-magnetic-resonance-imaging-findings-and-associated-pathology-of-a-rarely-reported-condition-in-27-patients
#28
JOURNAL ARTICLE
Barry G Hansford, Ningcheng Peter Li, Gregory Scott Stacy, Megan K Mills, Mathew Tommack, Corrie M Yablon
RATIONALE AND OBJECTIVES: (1) Describe multimodality imaging of cubonavicular coalition (CNC) with magnetic resonance imaging (MRI) focus, (2) evaluate CNC associated foot and ankle pathology, (3) examine clinical presentation/symptoms associated with CNC, (4) record CNC treatment. MATERIALS AND METHODS: Retrospective Institutional Review Board (IRB) approved study. Picture Archiving and Communication System (PACS) databases searched for CNC. Final study population: 34 cases in 27 patients...
September 6, 2023: Academic Radiology
https://read.qxmd.com/read/37656686/the-immediate-effect-of-cumulative-transverse-strain-via-exercise-on-the-achilles-tendon-in-individuals-with-and-without-flat-feet
#29
JOURNAL ARTICLE
Serkan Taş, Murat Fatih Koçyiğit, Ayça Aracı, Muhammed Taha Tüfek
BACKGROUND: Flat feet change lower extremity alignment, and it may change the load distribution on Achilles tendon during exercise. The purpose of the present study was to investigate the immediate effect of cumulative transverse strain via resistive ankle plantarflexion exercise on the Achilles tendon in individuals with flat feet. METHODS: Fourteen individuals with flat feet and 14 age-matched individuals with normal foot posture were enrolled in the present study...
September 1, 2023: Journal of the American Podiatric Medical Association
https://read.qxmd.com/read/37647299/evaluation-of-youtube-information-quality-about-pes-planus
#30
JOURNAL ARTICLE
Hacı Ali Olçar, Berna Güngör, Tolgahan Kuru, Davut Aydın, Gürdal Nusran
BACKGROUND: The aim of this study is to measure the quality of information about 'flatfoot' and 'pes planus' presented online on the social media site YouTube and to determine the trends of viewers to medical information on YouTube. METHODS: 'flatfoot and pes planus' was typed into the YouTube search module. From the search results, videos with 50000 views or more, longer than 45 seconds, containing information about flatfoot and pes planus disease were selected...
August 18, 2023: Journal of the American Podiatric Medical Association
https://read.qxmd.com/read/37636349/is-morton-s-neuroma-in-a-pes-planus-or-pes-cavus-foot-lead-to-differences-in-pressure-distribution-and-gait-parameters
#31
JOURNAL ARTICLE
Özlem Feyzioğlu, Özgül Öztürk, Selim Muğrabi
Morton's neuroma (MN) is a compressive neuropathy of the common digital plantar nerve causing forefoot pain. Foot posture and altered plantar pressure distribution have been identified as predispoing factors, however no studies have compared individuls with different foot postures with MN. Thus, we aimed to compare the effect of MN on spatiotemporal gait parameters and foot-pressure distribution in individuals with pes planus and pes cavus. Thirty-eight patients with unilateral MN were evaluated between June and August 2021...
August 2023: Heliyon
https://read.qxmd.com/read/37536818/two-dimensional-and-3-dimensional-mri-assessment-of-progressive-collapsing-foot-deformity-adult-acquired-flat-foot-deformity
#32
REVIEW
Prajwal Gowda, Ajit Kohli, Avneesh Chhabra
This article is meant to serve as a reference for radiologists, orthopedic surgeons, and other physicians to enhance their understanding of progressive collapsing foot deformity, also known as adult acquired flat foot deformity. Pathophysiology, imaging findings, especially on MRI and 3-dimensional MRI are discussed with relevant illustrations so that the readers can apply these principles in their practice for better patient managements.
September 2023: Foot and Ankle Clinics
https://read.qxmd.com/read/37518862/the-relationship-between-pes-planus-and-venous-insufficiency
#33
JOURNAL ARTICLE
Şahika Burcu Karaca, Hatice Ağır
INTRODUCTION: The presence of pes planus may be responsible for the disorder of venous return during ambulation. Our aim in this study is to reveal that the risk of venous insufficiency may be increased in patients with pes planus. METHODS: A total of 59 patients with 29 bilateral pes planus and 30 normal arches included in the study. Djian Annonier angle measurement, bilateral lower extremity venous Doppler ultrasonography (USG), foot function index (AFI), Comprehensive Classification System for Chronic Venous Disorders (CEAP) clinical scoring and Short Form-36 (SF-36) was evaluated...
July 30, 2023: Phlebology
https://read.qxmd.com/read/37502710/radiographic-measurements-of-the-foot-and-ankle-after-ankle-arthrodesis
#34
JOURNAL ARTICLE
Jordan Boivin, Christopher Traynor, Kevin Stehlik, James Jastifer
BACKGROUND: Ankle arthrodesis is an established treatment for ankle arthritis. For patients with ankle arthritis, the position of the talus during ankle arthrodesis may affect the radiographic parameters of the foot. The purpose of this study is to assess the radiographic relationship between talar alignment and the longitudinal arch of the foot before and after ankle arthrodesis. METHODS: We retrospectively reviewed a single-surgeon series of 30 patients who had undergone ankle arthrodesis...
July 2023: Foot & ankle orthopaedics
https://read.qxmd.com/read/37494300/the-influence-of-bilateral-and-unilateral-flat-foot-on-coronal-spinopelvic-alignment-in-asymptomatic-young-healthy-males
#35
JOURNAL ARTICLE
Pinar Kisacik, Erman Ceyhan
BACKGROUND: This cross-sectional retrospective study aimed to present the influence of unilateral and bilateral flatfoot on coronal spinopelvic alignment in asymptomatic young healthy males. METHODS: It was carried out by examining the medical reports of individuals who apply to the National Health Board to work in positions requiring physical fitness between January 2018 and January 2019. Plain radiographies of the feet, pelvis, and spine were analyzed. Calcaneal pitch angle (CPA) for flatfoot, pelvic obliquity (PO), and Cobb angle (CA) for spinal asymmetry was measured...
July 25, 2023: Journal of the American Podiatric Medical Association
https://read.qxmd.com/read/37493199/cathepsin-c-mutation-in-an-individual-with-phenotypic-features-of-haim-munk-syndrome-a-case-report
#36
JOURNAL ARTICLE
Rebecca L McCarthy, Dushyanth Gnanappiragasam, Matthew Scorer, Marisa Taylor, Edel A O'Toole
Haim-Munk syndrome and Papillon-Lefèvre syndrome are rare genodermatoses caused by mutations in the cathepsin C (CTSC) gene. They both cause palmoplantar keratoderma and are associated with periodontitis. Existing literature reports additional Haim-Munk syndrome characteristics including pes planus, radiographic deformity of the fingers and arachnodactyly, whilst Papillon-Lefèvre syndrome is associated with intracranial calcification and susceptibility to infection. We report a variant in CTSC which has previously been described in Papillon-Lefèvre syndrome but has not previously been reported in Haim-Munk syndrome...
July 26, 2023: Clinical and Experimental Dermatology
https://read.qxmd.com/read/37479535/the-association-between-keratoconus-and-systemic-manifestations-of-connective-tissue-hyperlaxity
#37
JOURNAL ARTICLE
Margarita Safir, Alexandra Satanovsky, Idan Hecht, Dan Heller, Adi Einan-Lifshitz, Eran Pras
PURPOSE: To evaluate the correlation between keratoconus and systemic manifestations of tissue hyperlaxity in the general population. METHODS: In this population based cross-sectional study 940,763 medical records of Israeli adolescents and young adults in military service were reviewed. Demographic and medical data were extracted. The prevalence of ligament injuries, habitual orthopedic deformities and umbilical/inguinal hernia was evaluated in cases with and without keratoconus...
July 19, 2023: Contact Lens & Anterior Eye: the Journal of the British Contact Lens Association
https://read.qxmd.com/read/37403076/the-effect-of-foot-posture-on-static-balance-ankle-and-knee-proprioception-in-18-to-25-year-old-female-student-a-cross-sectional-study
#38
JOURNAL ARTICLE
Maryam Ghorbani, Rasoul Yaali, Hassan Sadeghi, Tony Luczak
BACKGROUND & PURPOSE: Afferent input from the sole affects postural stability. Cutaneous reflexes from the foot are important to posture and gait. Lower-limb afferents alone provide enough information to maintain upright stance and are critical in perceiving postural sway. Altered feedback from propreoceptive receptors alters gait and patterns of muscle activation. The position and posture of the foot and ankle may also play an important role in proprioceptive input.Therefore, the current research aims to compare static balance and ankle and knee proprioception in people with and without flexible flatfeet...
July 4, 2023: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/37323193/dicentric-recombinant-chromosome-18-due-to-maternal-paracentric-inversion-analyzed-by-array-cgh
#39
Özlem Anlaş, Akgün Ölmez, Birsen Karaman, Füsun Düzcan, Selçuk Yüksel, Funda Tümkaya, Gülseren Bağcı, Cavidan Nur Semerci Gündüz
INTRODUCTION: Chromosomal abnormalities are mostly found in 0.5-0.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbalanced gametes in carriers. CASE PRESENTATION: Herein, we report a patient with dicentric rearrangement of chromosome 18 due to maternal paracentric inversion of chromosome 18. The patient was a girl, aged 3 years and 11 months...
June 2023: Molecular Syndromology
https://read.qxmd.com/read/37317797/diagnostic-accuracy-of-harris-imprint-index-chippaux-smirak-index-staheli-index-compared-with-talar-first-metatarsal-angle-for-screening-arch-of-foot
#40
JOURNAL ARTICLE
Siranya Paecharoen, Marut Arunakul, Nuttharat Tantivangphaisal
OBJECTIVE: To determine the diagnostic accuracy and reliability of the Harris imprint index (HII), Chippaux-Smirak index (CSI), and Staheli index (SI) compared with the talar-first metatarsal angle. METHODS: Data was collected at the orthotic and prosthetic clinic, Thammasat University Hospital from January 1, 2016 to August 31, 2020. The three footprints were measured by the rehabilitation physician and the orthotist. The talar-first metatarsal angle was measured by the foot and ankle orthopaedist...
June 1, 2023: Annals of Rehabilitation Medicine
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