scholarly journals Autoimmune encephalitis in a South Asian population

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilanka Wickramasinghe ◽  
Dhanushka Dasanayake ◽  
Neelika Malavige ◽  
Rajiva de Silva ◽  
Thashi Chang
Keyword(s):  
Sri Lanka ◽  
Psychiatric Symptoms ◽  
South Asians ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Asian Population ◽  
South Asian Population ◽  
Clinical Presentations

Abstract Background Autoimmune encephalitis (AE) is now considered a main, potentially curable cause of encephalitis, but remains conspicuously underreported from South Asia. We studied the clinical characteristics in relation to their antibody status and outcomes of patients presenting with AE in Sri Lanka. Methods Patients admitting to government hospitals who were clinically suspected of AE by an on-site neurologist were prospectively recruited over a period of 12 months. Sera and cerebrospinal fluid were tested for NMDAR, AMPAR1, AMPAR2, LGI1, CASPR2, GABARB1/B2 antibodies (Ab) using commercial cell-based assays. Demographic, clinical and laboratory data were compiled into an investigator-administered proforma. Patients were reviewed at 1 year follow up either in person or via telephone. Results One-hundred and forty-two patients from 21 of 25 districts in Sri Lanka (median age = 20.5 years; range 1–86 years; females = 61.3%) were recruited. Of them, 65 (45.8%; median age = 19 years; range 1–86 years; females = 64.6%) fulfilled diagnostic criteria for probable NMDAR-antibody encephalitis (NMDARE) and 6 (4.2%; median age = 44 years; range 28–71 years; females = 83.3%) limbic encephalitis (LE). Abnormal behaviour (95.3%), seizures (81.5%) and movement disorders (69.2%) were the most frequent clinical manifestations of probable NMDARE. NMDAR-antibodies were detectable in 29 (44.6%) and not detectable in 36 in CSF of probable-NMDARE patients. Abnormal EEG was more frequent (p = 0.003) while a worse outcome (OR = 2.78; 95% CI = 0.88–9.09) and deaths (OR = 2.38; 95% CI = 0.67–8.33) were more likely in antibody-negative than antibody-positive probable-NMDARE. Most patients with LE had amnesia (50%) and/or confusion (100%) with agitation (83.3%) and seizures (100%) but none had detectable antibodies to any of the antigens tested. Conclusions NMDARE is the commonest type of AE among South Asians as is the case worldwide. Clinical presentations of NMDARAb-positive and NMDARAb-negative AE patients do not significantly differ but EEG may be a useful marker of an autoimmune basis for psychiatric symptoms.

scholarly journals Clinical presentations and long term prognosis of childhood onset polyarteritis nodosa in single centre of Korea

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jeong-Seon Lee ◽  
Joong-Gon Kim ◽  
Soyoung Lee
Keyword(s):  
Polyarteritis Nodosa ◽  
Clinical Manifestations ◽  
Long Term Outcomes ◽  
Childhood Onset ◽  
Laboratory Findings ◽  
Clinical Presentations ◽  
Long Term Prognosis ◽  
Digital Amputation

AbstractChildhood-onset polyarteritis nodosa (PAN) is a rare and systemic necrotising vasculitis in children affecting small- to medium-sized arteries. To date, there have been only a few reports because of its rarity. Thus, we aimed to investigate the clinical manifestations, laboratory findings, treatment, and long-term outcomes in patients with childhood-onset PAN and to evaluate the usefulness of the paediatric vasculitis activity score (PVAS). We retrospectively analysed the data of nine patients with childhood-onset PAN from March 2003 to February 2020. The median ages at symptom onset, diagnosis, and follow-up duration were 7.6 (3–17.5), 7.7 (3.5–17.6), and 7.0 (1.6–16.3) years, respectively. All patients had constitutional symptoms and skin manifestations, while five exhibited Raynaud’s phenomenon. Organ involvement was observed in one patient. The median PVAS at diagnosis was 7 (range: 2–32). Prednisolone was initially used for induction in all patients, and other drugs were added in cases refractory to prednisolone. All patients survived, but three patients with high PVAS at diagnosis experienced irreversible sequelae, including intracranial haemorrhage and digital amputation. In conclusion, early diagnosis and treatment may minimise sequelae in patients with childhood-onset PAN. This study suggests that high PVAS score at diagnosis may be associated with poor prognosis.

scholarly journals Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xin Wang ◽  
Yanyun Wang ◽  
Dingyuan Ma ◽  
Zhilei Zhang ◽  
Yahong Li ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Phenylalanine Hydroxylase ◽  
Laboratory Data ◽  
Molecular Characteristics ◽  
Phenotype Correlation ◽  
Common Amino Acid ◽  
Appropriate Treatment ◽  
Clinical Presentations ◽  
Average Current

Abstract Background Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the development of symptoms is possible via neonatal screening, facilitating appropriate treatment and reducing mortality and disability rates. This study revealed the prevalence, mutational and phenotypic spectrum, and prognosis of HPA by neonatal screening from January 2001 to September 2020 in Nanjing, Jiangsu Province, China. Methods Through a retrospective analysis of the information available in the neonatal screening database, the clinical presentations, laboratory data, molecular characteristics and treatment follow-up data of HPA patients detected by neonatal screening were evaluated. Results We diagnosed 181 patients with HPA from 1 to 957 newborns, giving an incidence of 1:6873. Among these patients, 177 were identified as PAH deficient and four patients were BH4 deficient. The average current age of the patients was 6.38 years old. The most common mutations of PAH were c.728 C > A/ p.Arg243Gln (13.83 %), c.158G > A/ p.Arg53His (9.57 %), c.611 A > G/ p.Tyr204Cys (7.44 %), and c.721 C > T/ p.Arg241Cys (6.38 %). Conclusions This study revealed the prevalence, phenotype-genotype, and prognosis of HPA in China and contributes to the updating of PAHD data for China and worldwide. Our study not only expanded the spectrum of phenotypes and genotype but also provided a valuable tool for improved genetic counseling and management of future cases.

scholarly journals AB0533 ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY (ANCA) IN GENERAL POPULATION WITHOUT ANCA ASSOCIATED VASCULITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1563.3-1563
Author(s):  
H. Tamaki ◽  
S. Fukui ◽  
T. Nakai ◽  
G. Kidoguchi ◽  
S. Kawaai ◽  
...  
Keyword(s):  
Risk Factors ◽  
Autoimmune Disease ◽  
General Population ◽  
Granulomatosis With Polyangiitis ◽  
Dietary Habits ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Anca Associated Vasculitis ◽  
The Mean

Background:Currently it is hypothesized that many systemic autoimmune diseases occur due to environmental risk factors in addition to genetic risk factors. Anti-Neutrophil Cytoplasmic Antibody (ANCA) is mainly associated with three systemic autoimmune disease including granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA). It is known that ANCA can be positive before clinical symptoms in patients with known diagnosis of GPA and ANCA titers rise before clinical manifestations appear. However, prevalence of ANCA among general population is not well known. It has not been described as well how many of people with positive ANCA eventually develop clinical manifestations of ANCA associated Vasculitis.Objectives:This study aims to estimate prevalence of ANCA in general population without ANCA associated Vasculitis. It also describes natural disease course of people with positive ANCA without ANCA associated Vasculitis. Risk factors for positive ANCA are also analyzed.Methods:This is a single center retrospective study at Center for Preventive Medicine of St. Luke’s International Hospital in Tokyo. ANCA was checked among the patients who wished to between 2018 and 2019. St. Luke’s Health Check-up Database (SLHCD) was utilized to collect the data. The patients whose serum was measured for ANCA were identified. The data for basic demographics, social habits, dietary habits and laboratory data were extracted. The charts of the patients with positive ANCA were reviewed.Results:Sera of total 1204 people were checked for ANCA. Of these 1204 people, 587 (48.8%) are male and the mean age was 55.8 years (32.6 to 79). There were total 11 patients with positive ANCA. Myeloperoxidase ANCA (MPO-ANCA) was positive for 3 patients and proteinase 3 ANCA (PR3-ANCA) was positive for 8 patients. Of these 11 patients, 5 were male (45.5%) and the mean age was 54.6 years. Two patients had history of autoimmune disease (primary biliary cirrhosis and ulcerative colitis). Five patients were evaluated by rheumatologists with the median follow-up period of 274 days. None of them developed clinical signs and symptoms of ANCA associated Vasculitis. Four out of five patients had ANCA checked later, two of which turned negative. The prevalence of ANCA in this cohort was 0.9% (95% confidence interval [95% CI]: 0.5% to 1.6%). Univariate analysis was performed to identify risk factors of positive ANCA. The variables analyzed include age, gender, body mass index (BMI), smoking habits, alcohol intake, dietary habits (fruits, fish, red meat), hypertension, dyslipidemia, and laboratory data. None of these variables demonstrated statistically significant differences except for positive rheumatoid factor (ANCA positive group: 33 % vs ANCA negative group: 9.1%, p value = 0.044).Conclusion:The prevalence of ANCA in this cohort was 0.9% (95% CI: 0.5% to 1.6%). None of them who had a follow-up developed ANCA associated Vasculitis during the follow-up period. Longer follow-up and more patients are necessary to determine natural course of people with positive ANCA.Disclosure of Interests:None declared

scholarly journals ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

2020 ◽  
Vol 105 (7) ◽  
pp. 2119-2131 ◽  
Author(s):  
Julie Harvengt ◽  
Caroline Gernay ◽  
Meriem Mastouri ◽  
Nesrine Farhat ◽  
Marie-Christine Lebrethon ◽  
...  
Keyword(s):  
Systematic Review ◽  
Early Diagnosis ◽  
Individual Patient Data ◽  
Psychiatric Symptoms ◽  
Clinical Manifestations ◽  
Rapid Onset ◽  
Patient Data ◽  
Autonomic Dysregulation ◽  
Hypothalamic Dysfunction

Abstract Context Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. Objective The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. Design We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. Methods All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome. Results Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain. Conclusion Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.

scholarly journals Acute Megakaryocytic Leukemia with or Without Acquired Trisomy 21 in 15 Pediatric Patients

2020 ◽  
Author(s):  
Wenzhi ZHANG ◽  
Hui LI ◽  
Jingzhen LIU ◽  
Jiawei XU ◽  
Jinjin HAO ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Poor Prognosis ◽  
Clinical Characteristics ◽  
Pediatric Patients ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
The Other ◽  
Hematopoietic Stem ◽  
Acute Megakaryocytic Leukemia

Abstract The knowledge of clinical characteristics and prognosis of pediatric acute megakaryocytic leukemia (AMKL) with or without acquired +21 was limited. We reported 15 AMKL pediatric patients without Down Syndrome (four cases with acquired +21 and 11 cases without acquired +21) with the clinical manifestations, laboratory data, and prognosis. The clinical features and laboratory data between patients with acquired +21 and patients without acquired +21 are similar. As for prognosis, three of the 11 cases without acquired +21 obtained complete remission (CR) after 1st induction. The median follow-up time of the 11 cases was 9 months. Among four cases with acquired +21, one case gave up treatment during 1st induction, one obtained CR after 1st induction and was still alive after 49 months of follow-up. One case obtained CR after 2nd induction and was still alive for 15 months of follow-up after bone marrow transplantation, the other patient was planning for allogeneic hematopoietic stem cell transplantation (HSCT) without CR. The median follow-up time of the four cases was 12 months. None relapsed in our study. In conclusion, acquired trisomy 21 may not be an indicator for poor prognosis. Cytogenetics analysis can help us for diagnosis stratification, prognostic judgment and individualized treatment of AMKL.

Addition of docetaxel or abiraterone to androgen deprivation therapy in metastatic castration-naive prostate cancer in South Asian population.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e16514-e16514
Author(s):  
Neha Sonthwal ◽  
Shaik Maheboob Hussain ◽  
Devavrat Arya ◽  
Sandeep Batra ◽  
Harit Kumar Chaturvedi ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Androgen Deprivation Therapy ◽  
South Asian ◽  
Asian Population ◽  
Androgen Deprivation ◽  
Outcome Analysis ◽  
Serological Response ◽  
South Asian Population ◽  
To Receive

e16514 Background: Clinical trials have shown that addition of Docetaxel or Abiraterone to androgen deprivation therapy (ADT) achieves superior survival outcome in metastatic castration naive prostate cancer (mCNPC) in predominantly western population. We sought to evaluate treatment outcomes of adding Docetaxel or Abiraterone to ADT in South Asian population. Methods: 90 mCNPC patients who received treatment between January 2015 and June 2018 were prospectively followed. Diagnosis was established by TRUS guided prostate biopsy and staging was done by Ga68 PSMA PET CT scan in all patients. Patients who were unfit for combination therapy received ADT alone. Patients diagnosed before June 2017 & fit to receive chemo-hormonal therapy, received ADT+Docetaxel. Patients diagnosed after June 2017 and fit to receive combination were offered ADT+Docetaxel or ADT+Abiraterone and therapy selected based on patient’s choice. Monthly clinical evaluation and PSA measurement was done. Outcome measures analyzed included PSA decline > 90%, serological complete response (PSA < 0.2 ng/ml) and progression to CRPC. 76 patients with atleast 6 months follow-up were included in outcome analysis. Results: Patients received ADT alone (N = 37) or ADT+Docetaxel (N = 31) or ADT+Abiraterone (N = 22). Median age was 72, 64 & 70 years, median PSA was 88, 95 & 38 ng/ml, Gleason score was ≥8 in 57%, 71% & 77% patients in ADT alone, ADT+Docetaxel & ADT+Abiraterone group, respectively. Bone & visceral metastasis were present in 62% & 24%, 74% & 26%, 68% & 23% patients in ADT alone, ADT+Docetaxel & ADT+Abiraterone group, respectively. Outcome analysis in 76 evaluable patients is shown in Table. Conclusions: ADT+Docetaxel & ADT+Abiraterone achieve deeper serological response and reduced progression to CRPC compared to ADT alone in metastatic castration naive prostate cancer patients with South Asian ethnicity. Longer follow up is required to comment on overall survival and also to determine which combination (ADT+Docetaxel or ADT+Abiraterone) is superior to other, if at all.[Table: see text]

scholarly journals Autoimmune encephalitis: a review of diagnosis and treatment

2018 ◽  
Vol 76 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Lívia Almeida Dutra ◽  
Fabiano Abrantes ◽  
Fabio Fieni Toso ◽  
José Luiz Pedroso ◽  
Orlando Graziani Povoas Barsottini ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Psychiatric Symptoms ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Diagnosis And Treatment ◽  
Diagnostic Approach ◽  
Neurological Manifestations ◽  
Common Causes ◽  
Autonomic Disturbances

ABSTRACT Autoimmune encephalitis (AIE) is one of the most common causes of noninfectious encephalitis. It can be triggered by tumors, infections, or it may be cryptogenic. The neurological manifestations can be either acute or subacute and usually develop within six weeks. There are a variety of clinical manifestations including behavioral and psychiatric symptoms, autonomic disturbances, movement disorders, and seizures. We reviewed common forms of AIE and discuss their diagnostic approach and treatment.

scholarly journals Nutrition in an ethnically diverse society: what are some of the key challenges?

2011 ◽  
Vol 70 (2) ◽  
pp. 252-262 ◽  
Author(s):  
Ala Szczepura
Keyword(s):  
Public Health ◽  
Health Outcomes ◽  
Ethnic Minority ◽  
South Asian ◽  
South Asians ◽  
Asian Population ◽  
Minority Populations ◽  
Diverse Population ◽  
South Asian Population ◽  
Ethnic Minority Populations

The role of nutrition is especially important in certain ‘lifestyle’ diseases that impact disproportionately on ethnic minority populations. The aim of this paper is to review the evidence of risk, health outcomes and interventions for certain diseases that affect the UK's largest ethnic minority group (South Asians) in order to help professionals better address the needs of this diverse population. Research evidence is presented on factors influencing access to services by ethnic minority populations and the changing UK policy background for public health and preventive care. The available research base on obesity, diabetes and CVD is discussed. Conditions such as type 2 diabetes, which are more prevalent among the South Asian population, are associated with poorer health outcomes and appear to exhibit links to diet and nutrition that start in childhood or even before birth; all making preventive care important. Obesity is a major risk factor and it appears that BMI thresholds may need to be lower for South Asians. Targeted interventions to improve diet and outcomes in the South Asian population also appear promising. Recent moves to promote access to evidence of ethnicity and health and to improve the cultural competence of organisations are discussed. Health professionals will increasingly need to promote lifestyle changes in a manner that meets the needs of a diverse population in order to address future public health challenges. Nutritionists and other professionals will need to ensure that interventions are culturally appropriate and involve engagement with extended family members and communities.

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