scholarly journals Expression of IL-1 family members upon stimulation with IL-17 differs in keratinocytes derived from psoriasis patients and healthy donors

2010 ◽  
Vol 8 (S1) ◽  
Author(s):  
P Muhr ◽  
J Zeitvogel ◽  
T Werfel ◽  
M Wittmann
Keyword(s):  
Family Members ◽  
Healthy Donors

scholarly journals Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

2019 ◽  
Author(s):  
Lingchi Kong ◽  
Li Shi ◽  
Wenbo Wang ◽  
Rongtai Zuo ◽  
Mengwei Wang ◽  
...  
Keyword(s):  
Family Members ◽  
In Silico Analysis ◽  
Coxa Vara ◽  
Missense Mutations ◽  
Autosomal Dominant Disorder ◽  
Incomplete Dominance ◽  
Metaphyseal Chondrodysplasia ◽  
Healthy Donors ◽  
Col10a1 Gene ◽  
Nc1 Domain

Abstract Background: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. Methods: Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Genomic DNA of all affected individuals was subjected to whole-exome sequencing, and candidate mutations were verified by Sanger sequencing in all available family members and in 250 healthy donors. A spatial model of the type X collagen (α1) C-terminal noncollagenous (NC1) domain was further constructed. Results: We found that the phenotype of affected family members exhibited incomplete dominance. Mutation analysis indicated that there were two novel heterozygous missense mutations, [c.1765T>A (p.Phe589Ile)] and [c.1846A>G (p.Lys616Glu)] in the COL10A1 gene in family 1 and 2, respectively. The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furthermore, protein modeling revealed that the two substitutions were located in the NC1 domain of collagen X (α1), which potentially impacted the trimerization of collagen X (α1) and combination with molecules in the pericellular matrix. Conclusion: Two novel mutations were identified in the present study, which will facilitate diagnosis of MCDS and further expand the spectrum of the COL10A1 mutations associated with MCDS patients. In addition, our research revealed the phenomenon of incomplete dominance in MCDS.

scholarly journals Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

2019 ◽  
Author(s):  
Lingchi Kong ◽  
Li Shi ◽  
Wenbo Wang ◽  
Rongtai Zuo ◽  
Mengwei Wang ◽  
...  
Keyword(s):  
Family Members ◽  
In Silico Analysis ◽  
Coxa Vara ◽  
Missense Mutations ◽  
Autosomal Dominant Disorder ◽  
Incomplete Dominance ◽  
Metaphyseal Chondrodysplasia ◽  
Healthy Donors ◽  
Col10a1 Gene ◽  
Nc1 Domain

Abstract Background: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. Methods: Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Genomic DNA of all affected individuals was subjected to whole-exome sequencing, and candidate mutations were verified by Sanger sequencing in all available family members and in 250 healthy donors. A spatial model of the type X collagen (α1) C-terminal noncollagenous (NC1) domain was further constructed. Results: We found that the phenotype of affected family members exhibited incomplete dominance. Mutation analysis indicated that there were two novel heterozygous missense mutations, [c.1765T>A (p.Phe589Ile)] and [c.1846A>G (p.Lys616Glu)] in the COL10A1 gene in family 1 and 2, respectively. The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furthermore, protein modeling revealed that the two substitutions were located in the NC1 domain of collagen X (α1), which potentially impacted the trimerization of collagen X (α1) and combination with molecules in the pericellular matrix. Conclusion: Two novel mutations were identified in the present study, which will facilitate diagnosis of MCDS and further expand the spectrum of the COL10A1 mutations associated with MCDS patients. In addition, our research revealed the phenomenon of incomplete dominance in MCDS.

scholarly journals Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Lingchi Kong ◽  
Li Shi ◽  
Wenbo Wang ◽  
Rongtai Zuo ◽  
Mengwei Wang ◽  
...  
Keyword(s):  
Family Members ◽  
In Silico Analysis ◽  
Coxa Vara ◽  
Missense Mutations ◽  
Autosomal Dominant Disorder ◽  
Incomplete Dominance ◽  
Metaphyseal Chondrodysplasia ◽  
Whole Exome ◽  
Healthy Donors ◽  
Nc1 Domain

Abstract Background Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. Methods Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Genomic DNA of all affected individuals was subjected to whole-exome sequencing, and candidate mutations were verified by Sanger sequencing in all available family members and in 250 healthy donors. A spatial model of the type X collagen (α1) C-terminal noncollagenous (NC1) domain was further constructed. Results We found that the phenotype of affected family members exhibited incomplete dominance. Mutation analysis indicated that there were two novel heterozygous missense mutations, [c.1765 T > A (p.Phe589Ile)] and [c.1846A > G (p.Lys616Glu)] in the COL10A1 gene in family 1 and 2, respectively. The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furthermore, protein modeling revealed that the two substitutions were located in the NC1 domain of collagen X (α1), which potentially impacted the trimerization of collagen X (α1) and combination with molecules in the pericellular matrix. Conclusion Two novel mutations were identified in the present study, which will facilitate diagnosis of MCDS and further expand the spectrum of the COL10A1 mutations associated with MCDS patients. In addition, our research revealed the phenomenon of incomplete dominance in MCDS.

scholarly journals Evidence for human T cell lymphoma-leukemia virus infection of family members of human T cell lymphoma-leukemia virus positive T cell leukemia-lymphoma patients.

1983 ◽  
Vol 157 (1) ◽  
pp. 248-258 ◽  
Author(s):  
M Robert-Guroff ◽  
V S Kalyanaraman ◽  
W A Blattner ◽  
M Popovic ◽  
M G Sarngadharan ◽  
...  
Keyword(s):  
T Cell ◽  
Cell Lymphoma ◽  
Leukemia Virus ◽  
Family Members ◽  
The United States ◽  
T Cell Lymphoma ◽  
Human T Cell ◽  
Healthy Donors ◽  
Intact Virus ◽  
T Cell Malignancies

Sera of family members of patients from the United States, the Caribbean, and Japan, with human T cell lymphoma-leukemia virus (HTLV) associated T cell malignancies, possess HTLV-specific antibodies directed against internal structural components of HTLV, p24 and p19. The prevalence of antibodies to HTLV is greater in family members than in random healthy donors, which supports the infectious nature of HTLV and its association with particular aggressive T cell malignancies. Expression of HTLV p24 and p19 has also been observed in cultured T cells of some healthy relatives, and intact virus particles have been released from cells of one possibly pre-leukemic family member.

scholarly journals Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

2019 ◽  
Author(s):  
Lingchi Kong ◽  
Li Shi ◽  
Wenbo Wang ◽  
Rongtai Zuo ◽  
Mengwei Wang ◽  
...  
Keyword(s):  
Family Members ◽  
In Silico Analysis ◽  
Coxa Vara ◽  
Missense Mutations ◽  
Autosomal Dominant Disorder ◽  
Metaphyseal Chondrodysplasia ◽  
Whole Exome ◽  
Healthy Donors ◽  
Col10a1 Gene ◽  
Nc1 Domain

Abstract Background: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. Methods: Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Genomic DNA of all affected individuals was subjected to whole-exome sequencing, and candidate mutations were verified by Sanger sequencing in all available family members and in 250 healthy donors. A spatial model of the type X collagen (α1) C-terminal noncollagenous (NC1) domain was further constructed. Results: We found that the phenotype of affected family members exhibited irregular dominance. Mutation analysis indicated that there were two novel heterozygous missense mutations, [c.1765T>A (p.Phe589Ile)] and [c.1846A>G (p.Lys616Glu)] in the COL10A1 gene in family 1 and 2, respectively. The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furthermore, protein modeling revealed that the two substitutions were located in the NC1 domain of collagen X (α1), which potentially impacted the trimerization of collagen X (α1) and combination with molecules in the pericellular matrix. Conclusion: Two novel mutations were identified in the present study, which will facilitate diagnosis of MCDS and further expand the spectrum of the COL10A1 mutations associated with MCDS patients. In addition, our research revealed the phenomenon of irregular dominance in MCDS.

Effective Clinical Interviewing

1978 ◽  
Vol 9 (4) ◽  
pp. 265-271 ◽  
Author(s):  
Pauline T. Flynn
Keyword(s):  
Family Members ◽  
Essential Elements ◽  
Speech Language Pathologist ◽  
Lay Persons ◽  
Clinical Interviewing ◽  
Client Management

Speech, language, and hearing professionals rely on many individuals to provide information about a client. Management programs, in part, are devised, modified, and evaluated according to responses obtained from the client, family members, educators, and other professional and lay persons who have contact with the client. The speech-language pathologist has the responsibility of obtaining pertinent, complete, unbiased information about clients. This article provides an overview of the essential elements of an interview.

Much Ado About Fried Chicken: Abetting Aspiration or Respecting Autonomy?

2019 ◽  
Vol 28 (3) ◽  
pp. 1356-1362
Author(s):  
Laurence Tan Lean Chin ◽  
Yu Jun Lim ◽  
Wan Ling Choo
Keyword(s):  
Palliative Care ◽  
End Of Life ◽  
Multidisciplinary Team ◽  
Biopsychosocial Model ◽  
Family Members ◽  
Clinical Decisions ◽  
Goals Of Care ◽  
Complex Needs ◽  
Aspiration Risk ◽  
Patient Centric

Purpose Palliative care is a philosophy of care that encompasses holistic, patient-centric care involving patients and their family members and loved ones. Palliative care patients often have complex needs. A common challenge in managing patients near their end of life is the complexity of navigating clinical decisions and finding achievable and realistic goals of care that are in line with the values and wishes of patients. This often results in differing opinions and conflicts within the multidisciplinary team. Conclusion This article describes a tool derived from the biopsychosocial model and the 4-quadrant ethical model. The authors describe the use of this tool in managing a patient who wishes to have fried chicken despite aspiration risk and how this tool was used to encourage discussions and reduce conflict and distress within the multidisciplinary team.

A Strengths-Based Approach to Autism: Neurodiversity and Partnering With the Autism Community

2017 ◽  
Vol 2 (1) ◽  
pp. 56-68 ◽  
Author(s):  
Amy L. Donaldson ◽  
Karen Krejcha ◽  
Andy McMillin
Keyword(s):  
Broad Spectrum ◽  
First Language ◽  
Family Members ◽  
Community Identity ◽  
Speech Language Pathologists

The autism community represents a broad spectrum of individuals, including those experiencing autism, their parents and/or caregivers, friends and family members, professionals serving these individuals, and other allies and advocates. Beliefs, experiences, and values across the community can be quite varied. As such, it is important for the professionals serving the autism community to be well-informed about current discussions occurring within the community related to neurodiversity, a strengths-based approach to partnering with autism community, identity-first language, and concepts such as presumed competence. Given the frequency with which speech-language pathologists (SLPs) serve the autism community, the aim of this article is to introduce and briefly discuss these topics.

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