Search results for "foot deformities"
showing 10 items of 11 documents
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes
2016
The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis di…
2020
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown.Methods: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes.Results: Of 20 individuals, 14 showed…
Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series
2013
Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1…
The reliability, validity, and sensitivity of the Edmonton Frail Scale (EFS) in older adults with foot disorders
2020
[Abstract] The Edmonton Frail Scale (EFS) is an index employed to measure alterations related to frailty. The main objective in this research was to develop the EFS short-form (EFS-SF) and to evaluate its validity, reliability, and sensitivity to predict frailty disability outcomes in elderly patients with foot disabilities. Results: Exploratory factor analysis (EFA) of the EFS-SF revealed the presence of three components, as in the original EFA. There were significant differences (p < 0.05) in the study population for several of the EFS and 5-item FRAIL scale indicators. The highest correlation (Pearson R = 0.871; p < 0.001) was found for the first component of the EFS-SF. Finally, the Cro…
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones
2011
Background Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia in association with an increased secretion of parathyroid hormone (PTH) due to decreased target tissue responsiveness to PTH. Patients with PHP type Ia are not only resistant to PTH, but also to other hormones that bind to receptors coupled to stimulatory G protein (Gsalpha). PHP Ia and Albright hereditary osteodystrophy (AHO) are caused by a reduced activity of the Gsalpha protein. Heterozygous inactivating Gs alpha (GNAS) gene mutations have been identified in these patients. Methods We studied a boy with PHP Ia. During follow-up the patient developed elevated liver enzyme serum levels and abd…
Sex Differences in Frail Older Adults with Foot Pain in a Spanish Population: An Observational Study
2020
Frailty is a condition that can increase the risk of falls. In addition, foot pain can influence older adults and affect their frail condition. The main objective was to measure the frailty degree in older adults in a Spanish population with foot pain from moderate to severe. Method: This is a cross-sectional descriptive study. A sample of people older than 60 years (n = 52), including 26 males and 26 females, were recruited, and frailty disability was measured using the 5-Frailty scale and the Edmonton Frailty scale (EFS). Results: Spearman&rsquo
Effect of foot health and quality of life in patients with Parkinson disease: A prospective case-control investigation.
2022
Financiado para publicación en acceso aberto: Universidade da Coruña/CISUG [Abstract] Background Parkinson's disease (PD) is a common neurodegenerative disorder, characterised by the presence of motor disturbances. Therefore, it can be related to musculoskeletal and orthopaedic problems, particularly in the foot status, that are linked to a negative effect on overall health, mobility and social function. Objective The aim was to analyse the impact of foot health and quality of life in patients with Parkinson's disease and people without Parkinson's disease, with normalised reference scores, in the light of the values recorded with regard to foot health status and overall health. Material an…
Factores de riesgo de presión máxima plantar elevada en pacientes con polineuropatía diabética
2013
La diabetes mellitus (DM) es un problema creciente de salud pública en todo el mundo. En España la mayoría de estudios muestran ratios de prevalencia entre el 10% y el 15%. Los estudios de prevalencia de polineuropatía diabética (PNPD) muestran resultados muy dispares que oscilan entre un 22,7% a un 54%. Un 70% de las amputaciones de miembros inferiores suceden en personas con DM y un 85% de todas las amputaciones están precedidas por una úlcera. Se considera que el 25% de los pacientes con DM desarrollará úlcera plantar y un 2% requerirá amputación. Las complicaciones del pie diabético son de las más graves y costosas de la DM, siendo la amputación el paradigma de esta gravedad, y la úlcer…