The Experts below are selected from a list of 90 Experts worldwide ranked by ideXlab platform

Leslie Amass - One of the best experts on this subject based on the ideXlab platform.

  • Red Flag Symptom clusters in transthyretin familial amyloid polyneuropathy
    Journal of The Peripheral Nervous System, 2016
    Co-Authors: Isabel Conceicao, Alejandra Gonzalezduarte, Laura Obici, Hartmut Schmidt, Damien Simoneau, Leslie Amass
    Abstract:

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, heReditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, Symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.

  • “Red‐Flag” Symptom clusters in transthyretin familial amyloid polyneuropathy
    Journal of the peripheral nervous system : JPNS, 2016
    Co-Authors: Isabel Conceicao, Laura Obici, Hartmut Schmidt, Damien Simoneau, Alejandra Gonzalez-duarte, Moh Lim Ong, Leslie Amass
    Abstract:

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, heReditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, Symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.

Yukio Ando - One of the best experts on this subject based on the ideXlab platform.

  • Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: Red-Flag Symptom clusters and treatment algorithm.
    Orphanet journal of rare diseases, 2019
    Co-Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
    Abstract:

    .

  • Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: Red-Flag Symptom clusters and treatment algorithm
    BMC, 2018
    Co-Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
    Abstract:

    Abstract HeReditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder pRedominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific Symptoms. Phenotypic and genetic variability and non–disease-specific Symptoms often delay diagnosis and lead to misdiagnosis. Red-Flag Symptom clusters simplify diagnosis globally. However, in Japan, types of TTR variants, age of onset, penetrance, and clinical Symptoms of Val30Met are more varied than in other countries. Hence, development of a Japan-specific Red-Flag Symptom cluster is warranted. Presence of progressive peripheral sensory-motor polyneuropathy and ≥1 Red-Flag sign/Symptom (e.g. family history, autonomic dysfunction, cardiac involvement, carpal tunnel syndrome, gastrointestinal disturbances, unexplained weight loss, and immunotherapy resistance) suggests ATTR-FAP. Outside of Japan, pharmacotherapeutic options are first-line therapy. However, because of positive outcomes (better life expectancy and higher survival rates) with living donor transplant in Japan, liver transplantation remains first-line treatment, necessitating a Japan-specific treatment algorithm. Herein, we present a consolidated review of the ATTR-FAP Val30Met landscape in Japan and summarize findings from a medical advisory board meeting held in Tokyo on 18th August 2016, at which a Japan-specific ATTR-FAP Red-Flag Symptom cluster and treatment algorithm was developed. Beside liver transplantation, a TTR-stabilizing agent (e.g. tafamidis) is a treatment option. Early diagnosis and timely treatment using the Japan-specific Red-Flag Symptom cluster and treatment algorithm might help guide clinicians regarding apt and judicious use of available treatment modalities

Isabel Conceicao - One of the best experts on this subject based on the ideXlab platform.

  • Red Flag Symptom clusters in transthyretin familial amyloid polyneuropathy
    Journal of The Peripheral Nervous System, 2016
    Co-Authors: Isabel Conceicao, Alejandra Gonzalezduarte, Laura Obici, Hartmut Schmidt, Damien Simoneau, Leslie Amass
    Abstract:

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, heReditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, Symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.

  • “Red‐Flag” Symptom clusters in transthyretin familial amyloid polyneuropathy
    Journal of the peripheral nervous system : JPNS, 2016
    Co-Authors: Isabel Conceicao, Laura Obici, Hartmut Schmidt, Damien Simoneau, Alejandra Gonzalez-duarte, Moh Lim Ong, Leslie Amass
    Abstract:

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, heReditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, Symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.

Morgan Sill - One of the best experts on this subject based on the ideXlab platform.

  • Intimate partner violence and job instability.
    Journal of the American Medical Women's Association (1972), 2004
    Co-Authors: Therese M. Zink, Morgan Sill
    Abstract:

    OBJECTIVE: Research has shown that intimate partner violence (IPV) affects the physical and mental health of victims. It can also compromise work performance, leading to job loss. We exploRed the potential link between job loss and IPV as part of a larger study on IPV and health care. METHODS: Thirty-two mothers in Midwestern IPV shelters or support groups were interviewed to gather information about their abuse histories, health care experiences, and demographic characteristics. Interviews were audio taped, transcribed, and reviewed for themes. RESULTS: Half of participants had lost jobs because of IPV. Reasons included: the abuser told the victim to quit, in order to be safe, excessive absences because of covering up the abuse, and health issues exacerbated by IPV. CONCLUSION: Job instability was common among IPV victims in this study. Although this study did not address cause and effect, evidence of job instability may be another "Red Flag Symptom" indicating that providers should screen for IPV. Language: en

Yoshiki Sekijima - One of the best experts on this subject based on the ideXlab platform.

  • Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: Red-Flag Symptom clusters and treatment algorithm.
    Orphanet journal of rare diseases, 2019
    Co-Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
    Abstract:

    .

  • Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: Red-Flag Symptom clusters and treatment algorithm
    BMC, 2018
    Co-Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
    Abstract:

    Abstract HeReditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder pRedominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific Symptoms. Phenotypic and genetic variability and non–disease-specific Symptoms often delay diagnosis and lead to misdiagnosis. Red-Flag Symptom clusters simplify diagnosis globally. However, in Japan, types of TTR variants, age of onset, penetrance, and clinical Symptoms of Val30Met are more varied than in other countries. Hence, development of a Japan-specific Red-Flag Symptom cluster is warranted. Presence of progressive peripheral sensory-motor polyneuropathy and ≥1 Red-Flag sign/Symptom (e.g. family history, autonomic dysfunction, cardiac involvement, carpal tunnel syndrome, gastrointestinal disturbances, unexplained weight loss, and immunotherapy resistance) suggests ATTR-FAP. Outside of Japan, pharmacotherapeutic options are first-line therapy. However, because of positive outcomes (better life expectancy and higher survival rates) with living donor transplant in Japan, liver transplantation remains first-line treatment, necessitating a Japan-specific treatment algorithm. Herein, we present a consolidated review of the ATTR-FAP Val30Met landscape in Japan and summarize findings from a medical advisory board meeting held in Tokyo on 18th August 2016, at which a Japan-specific ATTR-FAP Red-Flag Symptom cluster and treatment algorithm was developed. Beside liver transplantation, a TTR-stabilizing agent (e.g. tafamidis) is a treatment option. Early diagnosis and timely treatment using the Japan-specific Red-Flag Symptom cluster and treatment algorithm might help guide clinicians regarding apt and judicious use of available treatment modalities