scholarly journals Autoantibody profiles and clinical association in Thai patients with autoimmune retinopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Aulia Rahmi Pawestri ◽  
Niracha Arjkongharn ◽  
Ragkit Suvannaboon ◽  
Aekkachai Tuekprakhon ◽  
Vichien Srimuninnimit ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Age Of Onset ◽  
Male Gender ◽  
Blurred Vision ◽  
Autoimmune Retinopathy ◽  
Immune Mediated ◽  
Underlying Malignancy ◽  
Clinical Presentations ◽  
Treatment Plans ◽  
Autoantibody Profiles

AbstractAutoimmune retinopathy (AIR) is a rare immune-mediated inflammation of the retina. The autoantibodies against retinal proteins and glycolytic enzymes were reported to be involved in the pathogenesis. This retrospective cohort study assessed the antiretinal autoantibody profiles and their association with clinical outcomes of AIR patients in Thailand. We included 44 patients, 75% were females, with the overall median age of onset of 48 (17–74, IQR 40–55.5) years. Common clinical presentations were nyctalopia (65.9%), blurred vision (52.3%), constricted visual field (43.2%), and nonrecordable electroretinography (65.9%). Underlying malignancy and autoimmune diseases were found in 2 and 12 female patients, respectively. We found 41 autoantibodies, with anti-α-enolase (65.9%) showing the highest prevalence, followed by anti-CAII (43.2%), anti-aldolase (40.9%), and anti-GAPDH (36.4%). Anti-aldolase was associated with male gender (P = 0.012, OR 7.11, 95% CI 1.54–32.91). Anti-CAII showed significant association with age of onset (P = 0.025, 95% CI − 17.28 to − 1.24), while anti-α-enolase (P = 0.002, OR 4.37, 95% CI 1.83–10.37) and anti-GAPDH (P = 0.001, OR 1.87, 95% CI 1.32–2.64) were significantly associated with nonrecordable electroretinography. Association between the antibody profiles and clinical outcomes may be used to direct and adjust the treatment plans and provide insights in the pathogenesis of AIR.

Cochlear implant in immune mediated inner ear diseases: Impedance variations and clinical outcomes

2021 ◽  
pp. 1-10
Author(s):  
Francesca Atturo ◽  
Ginevra Portanova ◽  
Francesca Yoshie Russo ◽  
Daniele De Seta ◽  
Laura Mariani ◽  
...  
Keyword(s):  
Cochlear Implant ◽  
Inner Ear ◽  
Clinical Outcomes ◽  
Ear Diseases ◽  
Immune Mediated

scholarly journals The Clinical Spectrum of Young Onset Dementia Points to Its Stochastic Origins

2021 ◽  
pp. 1-17
Author(s):  
Peter K. Panegyres
Keyword(s):  
Small Vessel Disease ◽  
Age Of Onset ◽  
Gene Mutations ◽  
Lewy Body Disease ◽  
Corticobasal Degeneration ◽  
Young Onset ◽  
Clinical Presentations ◽  
Eeg Data ◽  
Common Causes ◽  
Young Onset Dementia

Background: Dementia is a major global health problem and the search for improved therapies is ongoing. The study of young onset dementia (YOD)—with onset prior to 65 years—represents a challenge owing to the variety of clinical presentations, pathology, and gene mutations. The advantage of the investigation of YOD is the lack of comorbidities that complicate the clinical picture in older adults. Here we explore the origins of YOD. Objective: To define the clinical diversity of YOD in terms of its demography, range of presentations, neurological examination findings, comorbidities, medical history, cognitive findings, imaging abnormalities both structural and functional, electroencephagraphic (EEG) data, neuropathology, and genetics. Methods: A prospective 20-year study of 240 community-based patients referred to specialty neurology clinics established to elucidate the nature of YOD. Results: Alzheimer’s disease (AD; n = 139) and behavioral variant frontotemporal (bvFTD; n = 58) were the most common causes with a mean age of onset of 56.5 years for AD (±1 SD 5.45) and 57.1 years for bvFTD (±1 SD 5.66). Neuropathology showed a variety of diagnoses from multiple sclerosis, Lewy body disease, FTD-MND, TDP-43 proteinopathy, adult-onset leukoencephalopathy with axonal steroids and pigmented glia, corticobasal degeneration, unexplained small vessel disease, and autoimmune T-cell encephalitis. Non-amnestic forms of AD and alternative forms of FTD were discovered. Mutations were only found in 11 subjects (11/240 = 4.6%). APOE genotyping was not divergent between the two populations. Conclusion: There are multiple kinds of YOD, and most are sporadic. These observations point to their stochastic origins.

Malignancy

2013 ◽  
pp. 172-176
Author(s):  
Jennifer Hamilton ◽  
Clive Kelly
Keyword(s):  
Rheumatic Disease ◽  
Evidence Base ◽  
Necrosis Factor Alpha ◽  
Relative Risks ◽  
Underlying Malignancy ◽  
Clinical Presentations ◽  
Increased Risk ◽  
Risk Of Malignancy ◽  
Musculoskeletal Manifestations ◽  
Factor Alpha

This chapter addresses the links between malignancy and rheumatic disease. It begins with a summary of rheumatological conditions associated with an increased risk of malignancy, and describes and discusses specific neoplasms associated with each rheumatic disorder. The present knowledge base is summarized in tabular form, describing the relative risks of different malignancies for each relevant rheumatic disease. The diseases featured include rheumatoid arthritis, primary Sjögren’s syndrome, scleroderma, dermatomyositis and systemic lupus. The next section reviews the drugs used in present rheumatological practice known to be associated with malignancy, describing the specific established risks linked to each of the following agents: azathioprine, cyclophosphamide, ciclosporin, anti-tumour necrosis factor alpha (TNFα‎‎) agents, and mycophenolate mofetil. The evidence base and strength of these associations are summarized. Finally we describe the musculoskeletal manifestations that arise as a consequence of underlying malignancy, considering bone pain, polymyalgia, arthropathy, and vasculitis as clinical presentations or complications of underlying neoplasia. This section also includes descriptions of less common rheumatic disorders that may also be associated with cancer, including erythema nodosum, Sweet’s syndrome, and pyoderma gangrenosum.

scholarly journals Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Chih-Hong Lee ◽  
Chin-Song Lu ◽  
Wen-Li Chuang ◽  
Tu-Hsueh Yeh ◽  
Shih-Ming Jung ◽  
...  
Keyword(s):  
Literature Review ◽  
Age Of Onset ◽  
Pantothenate Kinase ◽  
Asian Patients ◽  
Truncating Mutation ◽  
Clinical Presentations ◽  
Segmental Dystonia ◽  
Generalized Dystonia ◽  
Caucasian Patients ◽  
Iron Deposits

Objectives. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN.Methods. Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were divided into classic and atypical groups by the age of onset. We compared the data on PKAN patients of Asian and Caucasian populations.Results. We found iron deposits in the globus pallidus in our Patient 1 and a heterozygous truncating mutation (c.1408insT) in Patient 2. Literature review shows that generalized dystonia and bulbar signs are more common in classic PKAN patients, whereas segmental dystonia and tremors are more specific to atypical ones. Asian patients have less complex presentations—lower prevalence of pyramidal signs, mental impairment, and parkinsonism—than Caucasians. D378G in exon 3 is the most frequent mutation (28%) in Asians.Conclusions. Our study demonstrates that the distribution of dystonia is the major distinction between subgroups of PKAN. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screeningPANK2mutations in Asian patients.

scholarly journals Classifying Crohn’s disease into colon-involving versus non-colon-involving groups is a better predictor of clinical outcomes than the Montreal classification

2020 ◽  
Vol 13 ◽  
pp. 175628482096873
Author(s):  
Si-Nan Lin ◽  
Dan-Ping Zheng ◽  
Yun Qiu ◽  
Sheng-Hong Zhang ◽  
Yao He ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Abdominal Surgery ◽  
Clinical Outcomes ◽  
Protective Factor ◽  
Age Of Onset ◽  
Disease Classification ◽  
Major Abdominal Surgery ◽  
Montreal Classification

Background: A suitable disease classification is essential for individualized therapy in patients with Crohn’s disease (CD). Although a potential mechanistic classification of colon-involving and non-colon-involving disease was suggested by recent genetic and microbiota studies, the clinical implication has seldom been investigated. We aimed to explore the association of this colonic-based classification with clinical outcomes in patients with CD compared with the Montreal classification. Methods: This was a retrospective study of CD patients from a tertiary referral center. Patients were categorized into colon-involving and non-colon-involving disease, and according to the Montreal classification. Clinico-demographic data, medications, and surgeries were compared between the two classifications. The primary outcome was the need for major abdominal surgery. Results: Of 934 patients, those with colonic involvement had an earlier median (interquartile range) age of onset [23.0 (17.0–30.0) versus 26.0 (19.0–35.0) years, p = 0.001], higher frequency of perianal lesions (31.2% versus 14.5%, p < 0.001) and extraintestinal manifestations (21.8% versus 14.5%, p = 0.010), but lower frequency of stricture (B2) (16.3% versus 24.0%, p = 0.005), than those with non-colon-involving disease. Colon-involving disease was a protective factor against major abdominal surgery [hazard ratio, 0.689; 95% confidence interval (CI), 0.481–0.985; p = 0.041]. However, patients with colon-involving CD were more prone to steroids [odds ratio (OR), 1.793; 95% CI, 1.206–2.666; p = 0.004] and azathioprine/6-mercaptopurine (AZA/6-MP) treatment (OR, 1.732; 95% CI, 1.103–2.719; p = 0.017) than were patients with non-colon-involving disease. The Montreal classification was not predictive of surgery or steroids and AZA/6-MP treatment. Conclusion: This study supports the rationale for disease classification based on the involvement of colon. This new classification of CD is a better predictor of clinical outcomes than the Montreal classification.

The prevalence, age-of-onset and the correlates of DSM-IV psychiatric disorders in the Tianjin Mental Health Survey (TJMHS)

2017 ◽  
Vol 48 (3) ◽  
pp. 473-487 ◽  
Author(s):  
H. Yin ◽  
G. Xu ◽  
H. Tian ◽  
G. Yang ◽  
K. J. Wardenaar ◽  
...  
Keyword(s):  
Mental Health ◽  
Substance Use ◽  
Mental Disorders ◽  
Mental Disorder ◽  
Mood Disorders ◽  
Age Of Onset ◽  
Male Gender ◽  
Immigrant Status ◽  
Sociodemographic Correlates ◽  
Mental Health Survey

BackgroundTo effectively shape mental healthcare policy in modern-day China, up-to-date epidemiological data on mental disorders is needed. The objective was to estimate the prevalence, age-of-onset (AOO) and sociodemographic correlates of mental disorders in a representative household sample of the general population (age ⩾ 18) in the Tianjin Municipality in China.MethodsData came from the Tianjin Mental health Survey (TJMHS), which was conducted between July 2011 and March 2012 using a two-phase design. 11 748 individuals were screened with an expanded version of the General Health Questionnaire and 4438 subjects were selected for a diagnostic interview by a psychiatrist, using the Structured Clinical Interview for the Diagnostic and Statistical Manual – fourth edition (SCID).ResultsThe lifetime and 1-month prevalence of any mental disorder were 23.6% and 12.8%, respectively. Mood disorders (lifetime: 9.3%; 1-month: 3.9%), anxiety disorders (lifetime: 4.5% 1-month: 3.1%) and substance-use disorders (lifetime: 8.8%; 1-month: 3.5%) were most prevalent. The median AOO ranged from 25 years [interquartile range (IQR): 23–32] for substance-use disorders to 36 years (IQR: 24–50) for mood disorders. Not being married, non-immigrant status (i.e. local ‘Hukou’), being a farmer, having <6 years of education and male gender were associated with a higher lifetime prevalence of any mental disorder.ConclusionResults from the current survey indicate that mental disorders are steadily reported more commonly in rapidly-developing urban China. Several interesting sociodemographic correlates were observed (e.g. male gender and non-immigrant status) that warrant further investigation and could be used to profile persons in need of preventive intervention.

High Body Mass Index (BMI) in North American Elderly Diffuse Large B-Cell Lymphoma (DLBCL) Patients Treated with Rituximab (R)-CHOP Compensates for Negative Impact of Male Gender

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 3046-3046
Author(s):  
Zheng Zhou ◽  
Alfred W. Rademaker ◽  
Leo I. Gordon ◽  
Ann S. LaCasce ◽  
Allison Crosby-Thompson ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Elderly Women ◽  
Negative Impact ◽  
B Cell Lymphoma ◽  
Female Gender ◽  
The Elderly ◽  
Male Gender ◽  
Elderly Men ◽  
Free Survival ◽  
High Bmi

Abstract Background: Recent reports from prospective clinical trials of R-containing chemotherapy in DLBCL patients suggest that gender, weight and/or BMI influence clinical outcomes. Pharmacokinetic studies by the German High Grade Lymphoma Study Group have shown that R clearance is relatively slow in elderly women compared to men, leading to higher levels and prolonged exposure and hence better clinical outcomes in elderly females. Specifically, it has been suggested that elderly men are underdosed, based on faster R clearance (Muller et al., 2012; Pfreundschuh et al., 2014). Regarding BMI as a predictor of clinical outcome, analysis of the US Veterans Administrative database showed an association between increased BMI and improved survival in DLBCL patients (Carson et al., 2012), while the ECOG clinical trial (E4494) for elderly DLBCL patients failed to reveal a significant association of BMI with clinical outcomes, or a gender difference related to BMI in failure-free survival (Hong et al., 2014). To further investigate these associations, we studied the effect of gender, BMI as well as body surface area (BSA, the actual dosing parameter), and potential interactions among these factors on long-term clinical outcomes for elderly DLBCL patients in the National Comprehensive Cancer Network (NCCN) non-Hodgkin lymphoma database. Methods: De novo DLBCL patients with age > 60 yrs. were identified from the NCCN adult DLBCL cohort. Patients were diagnosed between June 2000 and December 2010. All received R as part of first-line therapy. Outcomes evaluated included progression free survival (PFS) and overall survival (OS) at 3 years based on patient gender, age and BMI/ BSA at presentation. Gender was stratified based on BMI (<=18.5, >18.5-25, >25) or BSA (<=2, >2), and Kaplan-Meier estimates were calculated. Associations with disease progression and survival were additionally adjusted for the International Prognostic Index (IPI) in the multivariable Cox regression analyses. Results: Of the 1,386 DLBCL patients who received R, 627 were elderly with age >60 yrs. The majority of elderly men were either overweight or large: only 13% had BMI <=25 and only 26% had BSA <=2. Elderly men (n=325, 52%) experienced worse PFS (3 yr-Hazard Ratio, HR 1.5, 95% CI: 1.1-2.1, p=0.02) and OS (3 yr-HR 1.6, 1.1-2.4, p=0.01) compared to elderly women. Of note, the poor risk associated with male gender was associated with patients over 60, but not the younger cohort (3 yr-PFS, HR 1.3, 0.9-1.9, p=0.12). The benefit associated with female gender in the elderly cohort decreased with increases in BMI and BSA (Figure). There was a benefit associated with female gender when compared to male gender in the BMI (<=25) (log rank, p<0.01) and BSA <=2 (p=0.04) strata, but not among patients with high BMI (>25) or BSA (>2). In multivariable analysis, low or normal BMI as compared to high BMI was independently associated with poor outcomes (3-yr PFS, HR: 1.6, 1.1-2.2, p<0.01) after adjusting for gender. There was a trend suggesting that BSA <=2 correlated with worse 3-yr PFS in the elderly group adjusting for gender (3 yr-HR 1.4, 0.9-2.0, p=0.12). The HR estimates remained largely unchanged after adjusting for IPI. Notably, higher BMI was not associated with more favorable prognostic clinical factors. Conclusions: Our results, derived from analysis of unselected patients with DLBCL treated with R-containing chemotherapy at major NCCN centers, confirmed an age-dependent disadvantage to male gender in treatment outcomes. The magnitude of this negative effect diminished with higher levels of BMI and BSA, with the greatest negative impact occurring in elderly men with BMI <=25 or BSA <=2. Our findings support efforts to optimize R dosing, especially in the elderly male subset with BMI <=25 or BSA <=2. Future prospective trials should factor size and gender into the study design and analysis. Our results support the ongoing German randomized trial to evaluate enhanced rituximab dosing for older male patients. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

scholarly journals Huntington’s Disease in a Patient Misdiagnosed as Conversion Disorder

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
João Machado Nogueira ◽  
Ana Margarida Franco ◽  
Susana Mendes ◽  
Anabela Valadas ◽  
Cristina Semedo ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Age Of Onset ◽  
Late Onset ◽  
Psychiatric Patients ◽  
Conversion Disorder ◽  
Cag Repeat ◽  
Clinical Assessments ◽  
Clinical Presentations

Huntington’s disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington’s disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

The Maudsley bipolar disorder project Clinical characteristics of bipolar disorder I in a Catchment area treatment sample

2003 ◽  
Vol 18 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Vanessa Raymont ◽  
David Bettany ◽  
Sophia Frangou
Keyword(s):  
Bipolar Disorder ◽  
Substance Abuse ◽  
Catchment Area ◽  
Clinical Characteristics ◽  
Age Of Onset ◽  
Psychiatric Service ◽  
Male Gender ◽  
Younger Age ◽  
Male Patients ◽  
Psychotic Features

AbstractThe clinical characteristics of bipolar I disorder (BD1) have prognostic and therapeutic importance. The aim of this study was to examine the effect of demographic and clinical variables on the course of BD1. We reviewed the case notes of all BD1 patients (n = 63) receiving treatment in a London psychiatric service during a 1-month period. Depressive and manic onsets were equally likely without any gender difference. The earlier the age of onset, the more likely it was for patients to experience psychotic features. Only depressive onsets predicted a higher number of episodes of the same polarity. Male gender and substance abuse were associated with younger age at first presentation, while women with co-morbid substance abuse had more manic episodes. Male patients were more likely than females to be unemployed or single.

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