Unlabelled: AIMSWERNER SYNDROME IS A RARE PREMATURE AGEING AUTOSOMAL RECESSIVE DISORDER CAUSED BY PATHOGENIC VARIANTS IN THE WRN GENE. PEOPLE WITH WERNER SYNDROME MAY DEVELOP DIABETES MELLITUS. CHRONIC FOOT ULCERATION IS SEEN, WITH SOME CHARACTERISTICS OVERLAPPING WITH DIABETIC FOOT DISEASE. HOWEVER, THE CLINICAL COURSE OF THE ULCERATION IS ATYPICAL OF DIABETIC FOOT DISEASE. WE PRESENT FOUR SIBLINGS FROM AN IRISH TRAVELLER FAMILY WITH WERNER SYNDROME TO HIGHLIGHT THE COMPLEXITY OF THIS CONDITION. THE IRISH TRAVELLER POPULATION ARE AN INDIGENOUS, ENDOGAMOUS POPULATION IN WHICH CONSANGUINITY IS COMMON. AS A RESULT, RARE AUTOSOMAL RECESSIVE DISORDERS ARE PREVALENT AMONG THIS POPULATION: .
Methods: We describe our experience managing the complex foot disease seen in all four siblings. Foot complications present in the siblings include painful peripheral neuropathy, chronic foor ulceration, underlying osteomyelitis and acral melanoma.
Results: The cases are described individually, with a particular focus on the complex foot disease associated with the condition.
Conclusions: Although the siblings attend a diabetic foot clinic, we suggest that the combination of clinical features seen in these cases is unique to Werner syndrome and warrants the title 'Werner Syndrome' (rather than 'Diabetic') foot.
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http://dx.doi.org/10.1111/dme.15390 | DOI Listing |
PLoS Pathog
January 2025
State Key Laboratory for Animal Disease Control and Prevention, College of Veterinary Medicine, Lanzhou University, Lanzhou Veterinary Research Institute, Chinese Academy of Agricultural Sciences, Lanzhou, China.
Foot-and-mouth disease virus (FMDV) are small, icosahedral viruses that cause serious clinical symptoms in livestock. The FMDV VP1 protein is a key structural component, facilitating virus entry. Here, we find that the E3 ligase RNF5 interacts with VP1 and targets it for degradation through ubiquitination at the lys200 of VP1, ultimately inhibiting virus replication.
View Article and Find Full Text PDFJ Pediatr Orthop
January 2025
Jackie and Gene Autry Orthopedic Center, Children's Hospital Los Angeles, Los Angeles, CA.
Background: Orthopaedic surgical intervention in children with Charcot-Marie-Tooth (CMT) often includes triceps surae lengthening (TSL) and foot procedures to address instability and pain due to equinus and cavovarus deformities. These surgeries may unmask underlying weakness in this progressive disease causing increased calcaneal pitch and excessive dorsiflexion in terminal stance leading to crouch. The purpose of this study was to evaluate changes in ankle function during gait following TSL surgery in children with CMT.
View Article and Find Full Text PDFWorld J Clin Cases
January 2025
Department of Medical Imaging, Chongqing University Central Hospital, Chongqing 400014, China.
Foot reflexology is a non-invasive and safe complementary therapy that works by massaging the reflex zones of the feet and exerts systemic or whole-body regulation through meridian nerve conduction. This therapy is commonly used in the treatment of various conditions such as autism and Parkinson's disease. However, there is limited reporting on the use of foot reflexology therapy for infants with sensorineural hearing loss (SNHL).
View Article and Find Full Text PDFTransl Pediatr
December 2024
Department of Traditional Chinese Medicine, Liuzhou Women and Children's Healthcare Hospital, Liuzhou, China.
Background: Hand, foot, and mouth disease (HFMD) is a prevalent infectious condition in children. This study aimed to assess the regulatory effects of Re-Du-Ning on the intestinal microflora of pediatric patients with HFMD.
Methods: Fecal samples were collected from children affected by HFMD, who were diagnosed at the traditional Chinese medicine pediatrics outpatient and emergency departments of Liuzhou Women and Children's Healthcare Hospital, as well as from healthy children undergoing physical examinations at the same hospital during the same period.
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