Folnegović & Folnevogić-Šmalc's “Schizophrenia in Croatia: Inter-regional Differences in Prevalence and a Comment on Constant Incidence”

1994 ◽  
Vol 164 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Brian Cooper ◽  
John M. Eagles
Keyword(s):  
Age Of Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Incidence Rates ◽  
Population Characteristics ◽  
Reproduction Rate ◽  
Study Objective ◽  
Admission Rates ◽  
Manic Depressive ◽  
Economic Migration

“Study objective - The aim was to examine why differences exist in schizophrenia prevalence and risk in some areas of Croatia, when schizophrenia incidence rates do not appear to vary. Design - Areas differing by schizophrenia admission rates in patients born in 1953 and admitted by the age of 31 years are compared using a number of indicators relating both to general population characteristics and to those of schizophrenic cases in these populations. Setting - The study covers the whole of Croatia (4 601 469 inhabitants, 1981 census). Subjects - By the age of 31 years, out of 80 445 individuals born in Croatia in 1953, 464 were admitted for and diagnosed as having schizophrenia. Main results - Admission risk rates are higher in those parts of Croatia where emigration rates are high and lower where immigration rates are high. There is also a positive correlation with schizophrenia prevalence and manic depressive psychosis rates. There is a negative correlation with age of onset of schizophrenia and with schizophrenic reproduction rates. In the study areas, hospital incidence rates are not significantly different. Conclusions - Economic migration and negative selection in the domestic population are likely to be the most significant factors leading to differences in schizophrenia prevalence. The approximately equal incidence rates in the population, with different prevalence and admission risks, are linked to differences in the disease onset among schizophrenics with a positive family history for this condition. In other words, these patients, when part of the population with a greater prevalence and a greater hereditary loading, experience the onset more often at an earlier age. Thus they have a lower reproduction rate than in a population with a lower prevalence and a lower hereditary loading. Thus incidence rates in populations with different prevalences and different hereditary loads are maintained roughly equal over generations.”

scholarly journals Familial Aggregation in Idiopathic Subglottic Stenosis

2020 ◽  
Vol 163 (5) ◽  
pp. 1011-1017
Author(s):  
Virginia E. Drake ◽  
Alexander Gelbard ◽  
Nara Sobriera ◽  
Elizabeth Wohler ◽  
Lynne L. Berry ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Familial Aggregation ◽  
Tertiary Care ◽  
Positive Family History ◽  
Disease Onset ◽  
Subglottic Stenosis ◽  
Patient Demographics ◽  
The North ◽  
Familial Clustering ◽  
Tertiary Care Centers

Objective To evaluate inheritance patterns and define the familial clustering rate of idiopathic subglottic stenosis (iSGS). Study Design Retrospective observational study. Setting International multicenter collaborative of >30 tertiary care centers. Methods Patients with a clinically confirmed iSGS diagnosis within the North American Airway Collaborative’s iSGS1000 cohort consented between 2014 and 2018 were eligible for enrollment. Patient demographics and disease severity were abstracted from the collaborative’s iSGS longitudinal registry. Pedigrees of affected families were created. Results A total of 810 patients with iSGS were identified. Positive family history for iSGS was reported in 44 patients in 20 families. The rate of familial clustering in iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with familial aggregation of iSGS, 42 were female and 2 were male; 13 were mother-daughter pairs and 2 were father-daughter pairs. There were 3 sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family members. One pedigree demonstrated 2 affected mother-daughter pairs, with the mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of onset between parents (48.4 years) and offspring (36.1 years) was significantly different ( P = .016). Conclusion This study quantifies the rate of familial clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease demonstrates anticipation. These data suggest that there may be a genetic contribution in iSGS.

scholarly journals Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

2021 ◽  
Author(s):  
Valakunja H. Ganaraja ◽  
Kiran Polavarapu ◽  
Mainak Bardhan ◽  
Veeramani Preethish-Kumar ◽  
Shingavi Leena ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
Limb Weakness ◽  
Duration Of Symptoms ◽  
Large Deletions ◽  
Scapular Winging ◽  
Initial Symptoms

AbstractCalpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are included in this study. Consanguinity was present in 54.2%. The mean age of onset and duration of symptoms are 13.5 ± 6.4 and 6.3 ± 4.7 years, respectively. Positive family history occurred in 23.3%. The predominant initial symptoms were proximal lower limb weakness (52.1%) and toe walking (20.5%). At presentation, 97.2% had hip girdle weakness, 69.4% had scapular winging, and 58.3% had contractures. Follow-up was available in 76.4%, and 92.7% were ambulant at a mean age of 23.7 ± 7.6 years and duration of 4.5 years, remaining 7.3% became wheelchair-bound at 25.5 ± 5.7 years of age (mean duration = 13.5 ± 4.6), 4.1% were aged more than 40 years (duration range = 5–20). The majority remained ambulant 10 years after disease onset. Next-generation sequencing (NGS) detected 47 unique CAPN3 variants in 72 patients, out of which 19 are novel. Missense variants were most common occurring in 59.7% (homozygous = 29; Compound heterozygous = 14). In the remaining 29 patients (40.3%), at least one suspected loss of function variant was present. Common recurrent variants were c.2051–1G > T and c.2338G > C in 9.7%, c.1343G > A, c.802–9G > A, and c.1319G > A in 6.9% and c.1963delC in 5.5% of population. Large deletions were observed in 4.2%. Exon 10 mutations accounted for 12 patients (16.7%). Our study highlights the efficiency of NGS technology in screening and molecular diagnosis of limb-girdle muscular dystrophy with recessive form (LGMDR1) patients in India.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

Effect of Marriage on Pre-existing Psychoses: A Convenient or Futile Solution for Severe Mental Disorders?

2020 ◽  
Vol 2 (3-4) ◽  
pp. 273-276
Author(s):  
Prakash B. Behere ◽  
Aniruddh P. Behere ◽  
Debolina Chowdhury ◽  
Amit B. Nagdive ◽  
Richa Yadav
Keyword(s):  
Mental Disorders ◽  
Age Of Onset ◽  
Social Stigma ◽  
Positive Family History ◽  
Mental Illnesses ◽  
Psychotic Symptoms ◽  
Antipsychotic Treatment ◽  
Contractual Relationship ◽  
History Of ◽  
Paranoid Type

Marriage can be defined as the state of being united as spouses in a consensual and contractual relationship recognized by law. The general population generally believes marriage to be a solution to mental illnesses. It can be agreed that mental disorders and marital issues have some relation. Parents of patients with psychoses expect that marriage is the solution to the illness and often approach doctors and seek validation about the success of the marriage of their mentally ill child, which is a guarantee no doctor can give in even normal circumstances. Evidence on sexual functioning in patients of psychosis is limited and needs further understanding. Studies show about 60%–70% women of the schizophrenia spectrum and illness to experience sexual difficulties. Based on available information, sexual dysfunction in population with psychosis can be attributed to a variety of psychosocial factors, ranging from the psychotic symptoms in itself to social stigma and institutionalization and also due to the antipsychotic treatment. Despite the decline in sexual activity and quality of life in general, it is very rarely addressed by both the treating doctor and by the patient themselves hence creating a lacuna in the patient’s care and availability of information regarding the illness’ pathophysiology. Patients become noncompliant with medications due to this undesirable effect and hence it requires to be given more attention during treatment. It was also found that paranoid type of schizophrenia patient had lower chances of separation than patients with other types of schizophrenia. The risk of relapse in cases with later age of onset of the disease, lower education, a positive family history of psychosis or a lower income increased more than other populations.

scholarly journals Multiple Sclerosis in Malaysia: Demographics, Clinical Features, and Neuroimaging Characteristics

2013 ◽  
Vol 2013 ◽  
pp. 1-10 ◽  
Author(s):  
S. Viswanathan ◽  
N. Rose ◽  
A. Masita ◽  
J. S. Dhaliwal ◽  
S. D. Puvanarajah ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neuromyelitis Optica ◽  
Demyelinating Disease ◽  
Age At Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Demyelinating Diseases ◽  
Lesion Length ◽  
Relapsing Remitting ◽  
Spectrum Disorders

Background. Multiple sclerosis (MS) is an uncommon disease in multiracial Malaysia. Diagnosing patients with idiopathic inflammatory demyelinating diseases has been greatly aided by the evolution in diagnostic criterion, the identification of new biomarkers, and improved accessibility to neuroimaging in the country.Objectives. To investigate the spectrum of multiple sclerosis in Malaysia.Methods. Retrospective analysis with longitudinal follow-up of patients referred to a single tertiary medical center with neurology services in Malaysia.Results. Out of 245 patients with idiopathic inflammatory demyelinating disease, 104 patients had multiple sclerosis. Female to male ratio was 5 : 1. Mean age at onset was 28.6 ± 9.9 years. The Malays were the predominant racial group affected followed by the Chinese, Indians, and other indigenous groups. Subgroup analysis revealed more Chinese having neuromyelitis optica and its spectrum disorders rather than multiple sclerosis. Positive family history was reported in 5%. Optic neuritis and myelitis were the commonest presentations at onset of disease, and relapsing remitting course was the commonest disease pattern observed. Oligoclonal band positivity was 57.6%. At disease onset, 61.5% and 66.4% fulfilled the 2005 and 2010 McDonald’s criteria for dissemination in space. Mean cord lesion length was 1.86 ± 1.65 vertebral segments in the relapsing remitting group as opposed to 6.25 ± 5.18 vertebral segments in patients with neuromyelitis optica and its spectrum disorders.Conclusion. The spectrum of multiple sclerosis in Malaysia has changed over the years. Further advancement in diagnostic criteria will no doubt continue to contribute to the evolution of this disease here.

scholarly journals Family burden in schizophrenia: the influence of age of onset and negative symptoms

2016 ◽  
Vol 38 (2) ◽  
pp. 96-99 ◽  
Author(s):  
Lucas M. Mantovani ◽  
Rodrigo Ferretjans ◽  
Iara M. Marçal ◽  
Amanda M. Oliveira ◽  
Fernanda C. Guimarães ◽  
...  
Keyword(s):  
Negative Symptoms ◽  
Age Of Onset ◽  
Linear Regression Analysis ◽  
Disease Onset ◽  
Family Burden ◽  
Positive Symptoms ◽  
Subjective Burden ◽  
Sociodemographic Variables ◽  
Objective Burden ◽  
Positive And Negative Symptoms

Abstract Objectives: To investigate the determinants of family burden in a sample of patients with schizophrenia and their caregivers. Methods: Thirty-one stable patients with schizophrenia and their main caregivers were recruited. Sociodemographic variables were assessed in a semi-structured interview, and positive and negative symptoms were assessed with the Positive and Negative Syndrome Scale (PANSS). Cognitive performance was assessed with the Schizophrenia Cognition Rating Scale (SCoRS). Levels of burden on caregivers were assessed with the Family Burden Interview Schedule (FBIS). Interactions among variables were analyzed using Pearson correlations and linear regression analysis. Results: Objective and subjective FBIS scores were 1.9 (standard deviation [SD] = 0.5) and 2.4 (SD = 0.6) respectively. Objective burden correlated positively with positive and negative symptoms, and cognitive impairment. Subjective burden correlated positively with positive symptoms and negatively with mean age of disease onset. Positive, negative and cognitive symptoms accounted for 47.6% of the variance of objective burden, with negative symptoms accounting independently for 30.3%. Age of onset, parents as caregivers and positive symptoms accounted for 28% of the variance of subjective burden, with age of onset independently explaining 20.3%. Conclusion: Patients' clinical and sociodemographic variables are important determinants of family burden in schizophrenia. Objective burden is predicted by symptoms, particularly negative ones. Subjective burden is predicted by symptoms and sociodemographic variables, particularly age of disease onset.

scholarly journals Genetic analyses of SERPINA5 in Alzheimer’s disease

2021 ◽  
Author(s):  
Billie J. Matchett ◽  
Sarah J. Lincoln ◽  
Matt Baker ◽  
Nikoleta Tamvaka ◽  
Janisse Cabrera-Rodriguez ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Disease Duration ◽  
Age Of Onset ◽  
Positive Family History ◽  
Neuronal Loss ◽  
Missense Variant ◽  
Brain Regions ◽  
Allelic Frequency ◽  
Genomic Databases

Abstract Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is the most common cause of dementia. Our previous studies have shown that increased expression of the SERPINA5 gene is associated with hippocampal vulnerability in AD, and that the SERPINA5 protein binds to tau and co-localizes within neurofibrillary tangles. To determine if genetic variants in the SERPINA5 gene may be contributing to this phenotype, we sequenced 103 autopsy-confirmed young-onset AD cases with a positive family history of cognitive decline. We observed one individual with a rare missense variant (rs140138746) in the SERPINA5 gene, resulting in an amino acid change (p.E228Q). We screened a further 1170 neuropathologically diagnosed AD cases and identified an additional 5 carriers of this variant, resulting in an allelic frequency of 0.002141 within our AD validation cohort, which was comparable to online genomic databases. Although not significant, SERPINA5 p.E228Q variant carriers were found to be younger at age of onset and age of death than non-carriers. SERPINA5 p.E228Q variant carriers had a longer disease duration than non-carriers, which approached significance. To further elucidate possible neuropathologic contributions of the SERPINA5 p.E228Q variant, we carried out descriptive neuropathologic burden analysis on a variant carrier that was matched to a non-carrier for age, sex, disease duration, Braak tangle stage, TDP-43 positive status, and who possessed an APOE ε4 risk allele. Interestingly, SERPINA5 burden was lower in the SERPINA5 p.E228Q carrier than the non-carrier in 9 corticolimbic brain regions studied, which exaggerated the tau:SERPINA5 immunohistochemical ratio. The SERPINA5 p.E228Q carrier was observed to have more severe neuronal loss in several brain regions compared to the non-carrier. Together, we cautiously interpret these findings to suggest that the SERPINA5 p.E228Q variant may stall tangle maturity and slow AD disease progression, thus prolonging disease duration in these individuals.

scholarly journals Clinical, epidemiological and autoimmune associations in childhood vitiligo in Qatar

2020 ◽  
Vol 6 (2) ◽  
pp. 151
Author(s):  
Haya Al Mannai ◽  
Mohamed Allam ◽  
Hassan Riad
Keyword(s):  
Family History ◽  
Autoimmune Diseases ◽  
Age Of Onset ◽  
Positive Family History ◽  
Thyroid Peroxidase ◽  
Base Line ◽  
Adult Onset ◽  
Prognostic Features ◽  
History Of ◽  
The Mean

<p class="abstract"><strong>Background:</strong> Childhood vitiligo although clinically similar to adult onset vitiligo but it has distinct clinical, epidemiological and prognostic features compared to adult onset vitiligo.</p><p class="abstract"><strong>Methods:</strong> This is a retrospective study that was carried out on 85 pediatric patients up to age of 18 years old with the diagnosis of vitiligo, where the clinical and epidemiological data  including clinical type of vitiligo, family history of autoimmune diseases like thyroid disorders and diabetes mellitus and laboratory results including anti-thyroid peroxidase antibodies (anti-TPO antibodies), anti-parietal cell antibodies, antinuclear antibodies (ANA), Vitamin D and Vitamin B12 were retrieved from the files of these patients.<strong></strong></p><p class="abstract"><strong>Results:</strong> The mean age of the children affected by vitiligo was 10.4 years, the mean age of onset of vitiligo was 5.4 years, 54 (63.5%) percent were girls and 31 (36.5%) were boys. A positive family history of vitiligo was found in 44.7% of the participants, family history of DM was found in 64.7% of patients and family history of thyroid disease was found in 32.9% of the participants. The prevalence of thyroid autoimmunity was found to be in 22.4% of total participants.</p><p class="abstract"><strong>Conclusions:</strong> Childhood vitiligo has distinct clinical features, more common family history for autoimmune diseases and thyroid autoantibodies rather than overt clinical diseases, which raise the necessity to perform a routine initial immunological and thyroid screening in children with vitiligo and to repeat them at annual bases if there were abnormal values at base line or strong family history.</p>

Sex Differences in the Age of Onset of Bipolar Affective Illness

1990 ◽  
Vol 156 (6) ◽  
pp. 842-845 ◽  
Author(s):  
Charles D. T. Sibisi
Keyword(s):  
Sex Differences ◽  
Age Of Onset ◽  
National Sample ◽  
Middle Years ◽  
Admission Rates ◽  
Affective Illness

Data from a UK national sample showed differences between the sexes in age-specific inception rates for mania. Women had a higher inception rate than men during the middle years. The cumulative admission rates were nearly equal between the sexes.

scholarly journals Geospatial and seasonal variation of bronchiolitis in England: a cohort study using hospital episode statistics

Thorax ◽  
2020 ◽  
Vol 75 (3) ◽  
pp. 262-268 ◽  
Author(s):  
Kate Marie Lewis ◽  
Bianca De Stavola ◽  
Pia Hardelid
Keyword(s):  
Hospital Admissions ◽  
Warning System ◽  
Incidence Rates ◽  
Demographic Characteristics ◽  
North West ◽  
Admission Rates ◽  
The North ◽  
Public Health Messages ◽  
Low Levels ◽  
English National Health

BackgroundRates of hospital admissions for bronchiolitis vary seasonally and geographically across England; however, seasonal differences by area remain unexplored. We sought to describe spatial variation in the seasonality of hospital admissions for bronchiolitis and its association with local demographic characteristics.MethodsSingleton children born in English National Health Service hospitals between 2011 and 2016 (n=3 727 013) were followed up for 1 year. Poisson regression models with harmonic functions to model seasonal variations were used to calculate weekly incidence rates and peak timing of bronchiolitis admissions across English regions and clinical commissioning groups (CCGs). Linear regression was used to estimate the joint association of population density and deprivation with incidence and peak timing of bronchiolitis admissions at the CCG level.ResultsBronchiolitis admission rates ranged from 30.9 per 1000 infant-years (95% CI 30.4 to 31.3) in London to 68.7 per 1000 (95% CI 67.9 to 69.5) in the North West. Across CCGs, there was a 5.3-fold variation in incidence rates and the epidemic peak ranged from week 49.3 to 52.2. Admission rates were positively associated with area-level deprivation. CCGs with earlier peak epidemics had higher population densities, and both high and low levels of deprivation were associated with earlier peak timing.ConclusionsApproximately one quarter of the variation in admission rates and two-fifths of the variation in peak timing of hospital admissions for bronchiolitis were explained by local demographic characteristics. Implementation of an early warning system could help to prepare hospitals for peak activity and to time public health messages.

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