Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

Özer, Leyla; Ünsal, Evrim; Aktuna, Süleyman; Baltacı, Volkan; Celikkol, Pelin; Akyigit, F.; Şen, Aşkın; Ayvaz, Özge; Balcí, Sevim

doi:10.1097/mcd.0000000000000132

Cited by 12 publications

(2 citation statements)

References 21 publications

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“…Patient impression of the hospital's value has been found to have a significant impact on patient satisfaction in private Jabodetabek hospitals (Novella et al, 2018). The same can be said for study that was carried out by Ozer et al (2016), which indicated that the perceived value of the customer has a major effect on the degree of patient satisfaction at Turkish University Hospitals.…”

Section: Multivariate Analysismentioning

confidence: 71%

Patient Satisfaction After Stella Maris Hospital and Faisal Islamic Hospital Were Installed in Makassar City: An Examination of the Role of Brand Perception, Customer Perceived Value, and Customer Experience

Hamzah

Noor

Maidin

et al. 2022

JCHP

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Patient satisfaction at inpatient installations at Stella Maris Hospital and Faisal Islam Hospital in Makassar City will be analyzed and compared with respect to brand image, customer perceived value, and customer experience. The research in question is a quantitative cross-sectional study that employs an observational methodology. A total of 190 replies were included in this study, all of which were from patients being treated at either RS Stella Maris or RS Islam Faisal Makassar. Bivariate and multivariate univariate analysis were used to examine the data. Based on the data collected, it was determined that there was a link between patient happiness and brand equity, customer value perception, and customer service quality. Brand image had a significance level of 0.0000.05, and its value was 0.126. Value as seen by customers had a 0.0000.05 significance level, and nilai equaled 0.424. We found a value of B = 0.376 for customer satisfaction at a significance level of 0.0000.05. Management at both RS Stella Maris and RSI Faisal Makassar City would do well to regularly assess the hospitals' brand values, customer perceptions of those values, and the quality of care their patients receive, with suggestions for ways to enhance these metrics including faster service, clearer communication, and more accommodating scheduling.

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Section: Multivariate Analysismentioning

confidence: 71%

Patient Satisfaction After Stella Maris Hospital and Faisal Islamic Hospital Were Installed in Makassar City: An Examination of the Role of Brand Perception, Customer Perceived Value, and Customer Experience

Hamzah

Noor

Maidin

et al. 2022

JCHP

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“…(d) Table collecting the percentages related to the mutations classified according to both the domain and the group of laminopathies. [171,181,184,194,195] 4 Heart-hand syndrome, Slovenian type (HHS) 610140 LMNA [196] Laminopathies subdivided in four groups: myopathies (1), lipodystrophies (2), neuropathies (3), and systemic diseases (4). Figure 8 shows all the specific mutations of the LMNA gene for each pathology (here omitted for the sake of clarity).…”

Section: Lamin A/c Mechanotransduction In Laminopathiesmentioning

confidence: 99%

Lamin A/C Mechanotransduction in Laminopathies

Donnaloja

Carnevali

Jacchetti

et al. 2020

Cells

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Mechanotransduction translates forces into biological responses and regulates cell functionalities. It is implicated in several diseases, including laminopathies which are pathologies associated with mutations in lamins and lamin-associated proteins. These pathologies affect muscle, adipose, bone, nerve, and skin cells and range from muscular dystrophies to accelerated aging. Although the exact mechanisms governing laminopathies and gene expression are still not clear, a strong correlation has been found between cell functionality and nuclear behavior. New theories base on the direct effect of external force on the genome, which is indeed sensitive to the force transduced by the nuclear lamina. Nuclear lamina performs two essential functions in mechanotransduction pathway modulating the nuclear stiffness and governing the chromatin remodeling. Indeed, A-type lamin mutation and deregulation has been found to affect the nuclear response, altering several downstream cellular processes such as mitosis, chromatin organization, DNA replication-transcription, and nuclear structural integrity. In this review, we summarize the recent findings on the molecular composition and architecture of the nuclear lamina, its role in healthy cells and disease regulation. We focus on A-type lamins since this protein family is the most involved in mechanotransduction and laminopathies.

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Systematic review of hormonal and genetic factors involved in the nonsyndromic disorders of the lower jaw

Manocha

Farokhnia

Khosropanah

et al. 2019

Developmental Dynamics

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Mandibular disorders are among the most common birth defects in humans, yet the etiological factors are largely unknown. Most of the neonates affected by mandibular abnormalities have a sequence of secondary anomalies, including airway obstruction and feeding problems, that reduce the quality of life. In the event of lacking corrective surgeries, patients with mandibular congenital disorders suffer from additional lifelong problems such as sleep apnea and temporomandibular disorders, among others. The goal of this systematic review is to gather evidence on hormonal and genetic factors that are involved in signaling pathways and interactions that are potentially associated with the nonsyndromic mandibular disorders. We found that members of FGF and BMP pathways, including FGF8/10, FGFR2/3, BMP2/4/7, BMPR1A, ACVR1, and ACVR2A/B, have a prominent number of gene‐gene interactions among all identified genes in this review. Gene ontology of the 154 genes showed that the functional gene sets are involved in all aspects of cellular processes and organogenesis. Some of the genes identified by the genome‐wide association studies of common mandibular disorders are involved in skeletal formation and growth retardation based on animal models, suggesting a potential direct role as genetic risk factors in the common complex jaw disorders. Developmental Dynamics 248:162‐172, 2019. © 2018 Wiley Periodicals, Inc.

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Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

Cited by 12 publications

References 21 publications

Patient Satisfaction After Stella Maris Hospital and Faisal Islamic Hospital Were Installed in Makassar City: An Examination of the Role of Brand Perception, Customer Perceived Value, and Customer Experience

Patient Satisfaction After Stella Maris Hospital and Faisal Islamic Hospital Were Installed in Makassar City: An Examination of the Role of Brand Perception, Customer Perceived Value, and Customer Experience

Lamin A/C Mechanotransduction in Laminopathies

Systematic review of hormonal and genetic factors involved in the nonsyndromic disorders of the lower jaw

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