scholarly journals Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

2020 ◽  
Author(s):  
Meenu Grewal ◽  
Mamta Muranjan
Keyword(s):  
Age Of Onset ◽  
Late Onset ◽  
Time Lag ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Clinical Practices ◽  
Health Seeking ◽  
Diagnostic Practices ◽  
Primary Physician ◽  
Genetic Clinic

AbstractThe present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 months, between consultation with primary physician and visit to genetic clinic of 0 to 128 months, from visit to genetic clinic and diagnosis of 1 to 111 months, and that between onset of symptoms and diagnosis 1 to 154 months. Major causes for delayed diagnosis were symptoms overlooked by physician (54%), late consultation by care giver (48.6%), late onset of symptoms (43.2%), and resource crunch (32.4%). Diagnosis at referral other than MPS was noted in 45%. Thus, diagnostic delay for MPS is common due to health seeking practices of parents, as well as physicians' clinical practices. Overcoming these barriers would necessitate strengthening awareness and educational activities for physicians and lay public.

Endometriosis-Associated Symptoms and Diagnostic Delay: An Online Survey

2020 ◽  
Author(s):  
Maryam Moradi ◽  
Azin Niazi ◽  
Melissa Parker ◽  
Anne Sneddon ◽  
Violeta Lopez ◽  
...  
Keyword(s):  
Online Survey ◽  
Age Of Onset ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Cross Sectional Study ◽  
Diagnosis Delay ◽  
Cross Sectional ◽  
Delay In Diagnosis ◽  
Associated Symptoms ◽  
Surgical Treatments

Abstract Background: Endometriosis is found in women of all ethnic and social groups with a prevalence of around 10%. However, data on diagnostic-delay and associated symptoms are limited. The aim of this study was to determine the endometriosis-associated symptoms and diagnosis-delay through an online survey. Methods: A cross-sectional study was conducted in Australia using an online web-based survey. All data were entered and analyzed using STATA (version 14/1). A total of 903 responders completed an online survey from September 2013 to October 2015.Results: Total participants of 903, 71.10% Australians (were born in Australia) and 28.90% Non-Australian (were not born in Australia), with self-reported diagnosis of endometriosis was confirmed by surgery in 86.5% of participants completed the online survey. Delay in diagnosis was 8.1±6.2 years. There was no difference between age range (p = 0.35), mean age of onset of the first symptoms (p = 0.93), and delay in diagnosis (p = 0.11) in both groups. Most common endometriosis-related symptoms that all responders had experienced in their lifetime were period pain 98.11%, fatigue 94.01%, bloating 90.69%, ovulation pain 88.70%, pelvic pain 87.26%, pain during before/after sexual activity 82.72% and heavy bleeding 82.17% and delayed fertility 37.98%. Treatments used in affected women included: pain killers 96.01% (n=867), hormonal medication 84.71% and surgical treatments 84.49 %. Rate of miscarriage or stillbirth was 13.4% and hysterectomy because of endometriosis was 9.6%. Conclusions: Vast similarities in demographics and endometriosis-associated symptoms among the Australian and non-Australian women with endometriosis support the universality of the disease characteristics. Delay in diagnosis of endometriosis is a problem and the reasons for delayed diagnosis must be better understood to try to shorten this delay. Except for pain, endometriosis patients suffer from a variety of symptoms and treatment must take into account the most prominent symptoms.

Cluster headache: Is age of onset important for clinical presentation?

Cephalalgia ◽  
2014 ◽  
Vol 34 (9) ◽  
pp. 664-670 ◽  
Author(s):  
Jasna Zidverc-Trajkovic ◽  
Kristina Markovic ◽  
Aleksandra Radojicic ◽  
Ana Podgorac ◽  
Nadezda Sternic
Keyword(s):  
Cluster Headache ◽  
Age Of Onset ◽  
Late Onset ◽  
Nasal Congestion ◽  
Demographic Data ◽  
Correct Diagnosis ◽  
Diagnostic Delay ◽  
Age Groups ◽  
Point Of View ◽  
Cross Sectional

Background The age of onset of cluster headache (CH) attacks most commonly is between 20 and 40 years old, although CH has been reported in all age groups. There is increasing evidence of CH with early or late onset and a different course of the disorder. The aim of the study was to analyze the influence of the age of onset on clinical features, disorder course, and therapy effectiveness in CH patients. Methods A retrospective and cross-sectional analysis was performed on 182 CH patients divided into three groups according to the age of onset. The first group consisted of patients with the first CH attack before 20 years of age, the second group was patients with age of onset between 20 and 40 years of age, and the third group was patients with age of onset after 40 years of age. Demographic data, features of CH periods and attacks, and the response to standardized treatment were compared among the groups. Results Patients with CH onset after 40 years of age reported a lower number of autonomic features and less frequently had conjunctival injection and nasal congestion/rhinorrhea phenomena during their attacks. Diagnostic delay was the longest in the patients with CH onset before 20 years of age. Conclusion The influence of the age of onset of CH is intriguing for further studies and could possibly extend the knowledge about CH pathophysiology. From a clinical point of view, the differences in CH presentation are insufficient to preclude a correct diagnosis and treatment because the same criteria could be applied regardless of patient age.

scholarly journals Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Age Of Onset ◽  
Late Onset ◽  
Molecular Characteristics ◽  
Family History Of Cancer ◽  
Molecular Features ◽  
Age Of Diagnosis ◽  
History Of ◽  
History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

Advances in Medical Genetics: Huntington Disease

1987 ◽  
Vol 9 (1) ◽  
pp. 13-14
Author(s):  
Frederick Hecht
Keyword(s):  
Molecular Genetics ◽  
Huntington Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
The United States ◽  
Medical Genetics ◽  
Clinical Signs And Symptoms ◽  
Huntington Chorea

Medical genetics is currently enjoying a time of exploration and discovery. Huntington disease has long been of interest in adult medicine. The onset of clinical signs and symptoms is usually delayed until midadulthood. It may seem strange in this context to focus on Huntington disease, but advances in molecular genetics have brought Huntington disease into the purview of pediatrics. These advances in molecular genetics make it possible to detect Huntington disease in a preclinical stage at or even before birth. The molecular approach does not replace prior approaches to Huntington disease but is synergistic and provides a model of the new genetics. Huntington disease is synonymous with Huntington chorea. It is named after George Huntington who, like his father and grandfather before him, studied the disease in families on Long Island, NY. Huntington disease is a more common hereditary disorder than phenylketonuria, which occurs in one of about 10,000 newborns in the United States. By contrast, about one in 2,000 persons is at risk for Huntington disease. Although most cases start clinically in midadulthood, usually between 35 and 42 years of age, there is great variability in age of onset. About 3% of cases are diagnosed as juvenile Huntington disease before the age of 15 years. Late onset is well known after 50 years of age.

Age, Age of Onset and Course of Primary Depressive Illness in the Elderly*

1983 ◽  
Vol 28 (2) ◽  
pp. 102-104 ◽  
Author(s):  
Martin G. Cole
Keyword(s):  
Elderly Patients ◽  
Depressive Episode ◽  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
The Elderly ◽  
Depressive Illness ◽  
Physical Illness ◽  
Course Of Illness

Thirty-eight elderly patients with primary depressive illness (Feighner criteria) were followed up for 7–31 months. In the absence of persistent organic signs and severe physical illness, age of onset (first depressive episode after 60) but not age was significantly related to course of illness. Compared to early onset depressives, late onset depressives were more likely to remain completely well during the follow-up period and less likely to have frequent or disabling relapses.

Early and Late Onset Bipolar Disorders in Older Adults

2017 ◽  
Vol 41 (S1) ◽  
pp. S211-S211
Author(s):  
N. Smaoui ◽  
L. Zouari ◽  
N. Charfi ◽  
M. Maâlej-Bouali ◽  
N. Zouari ◽  
...  
Keyword(s):  
Older Adults ◽  
Bipolar Disorder ◽  
Early Onset ◽  
Age Of Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Bipolar Disorders ◽  
Medical Diagnoses ◽  
The Mean ◽  
Bipolar Patients

IntroductionAge of onset of illness may be useful in explaining the heterogeneity among older bipolar patients.ObjectiveTo examine the relationship of age of onset with clinical, demographic and behavioral variables, in older patients with bipolar disorder.MethodsThis was a cross-sectional, descriptive and analytical study, including 24 patients suffering from bipolar disorders, aged 65 years or more and followed-up in outpatient psychiatry unit at Hedi Chaker university hospital in Sfax in Tunisia. We used a standardized questionnaire including socio-demographic, behavioral and clinical data. Age of onset was split at age 40 years into early-onset (< 40 years; n = 12) and late-onset (≥ 40 years; n = 12) groups.ResultsThe mean age for the entire sample was 68.95 years. The mean age of onset was 39.95 years. The majority (60%) of patients were diagnosed with bipolar I. Few meaningful differences emerged between early-onset and late-onset groups, except that tobacco use was significantly higher in the late-onset group (66.6% vs. 16.6%; P = 0.027). No significant differences between the early-onset and late-onset groups were seen on demographic variables, family history and number of medical diagnoses or presence of psychotic features.ConclusionOur study found few meaningful behavioral differences between early versus late age at onset in older adults with bipolar disorder.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals A Natural History Comparison of SOD1-Mutant Patients with Amyotrophic Lateral Sclerosis between Chinese and German Populations

2021 ◽  
Author(s):  
Lu Tang ◽  
Johannes Dorst ◽  
Lu Chen ◽  
Xiaolu Liu ◽  
Yan Ma ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Large Scale ◽  
Age Of Onset ◽  
Diagnostic Delay ◽  
Chinese Patients ◽  
Common Mutation ◽  
Progression Rate ◽  
Causative Gene ◽  
Sod1 Mutant ◽  
Lateral Sclerosis

Abstract Background: The gene coding the Cu/Zn superoxide dismutase ( SOD1 ) was the first-identified causative gene of amyotrophic lateral sclerosis (ALS), and the second most common genetic cause for ALS worldwide. The promising therapeutic approaches targeting SOD1 mutations are on the road. The purpose of the present study was to compare the mutational and clinical features of Chinese and German patients with ALS carrying mutations in SOD1 gene, which will facilitate the strategy and design of SOD1 -targeted trials.Methods: Demographic and clinical characteristics were collected from two longitudinal cohorts in China and Germany. Chinese and German patients carrying SOD1 mutations were compared with regard to mutational distribution, age of onset, site of onset, body mass index (BMI) at diagnosis, diagnostic delay, progression rate, and survival.Results: A total of 66 Chinese and 84 German patients with 69 distinct SOD1 mutations were identified. The most common mutation in both populations was p.His47Arg. It was found in 8 Chinese and 2 German patients and consistently showed a slow progression of disease in both countries. Across all mutations, Chinese patients showed a younger age of onset (43.9 vs 49.9 years, p=0.002), a higher proportion of young-onset cases (62.5% vs 30.7%, p<0.001) and a lower BMI at diagnosis (22.8 vs 26.0, p<0.001) compared to German patients. Although riluzole intake was less frequent in Chinese patients (28.3% vs 81.3%, p<0.001), no difference in survival between populations was observed (p=0.90). Across both cohorts, female patients had a longer diagnostic delay (15.0 vs 11.0 months, p=0.01) and a prolonged survival (248.0 vs 60.0 months, p=0.005) compared to male patients.Conclusions: Our data demonstrate the distinct mutational and clinical spectrums of SOD1 -mutant patients in Asian and European populations. Clinical phenotypes seem to be primarily influenced by mutation-specific, albeit not excluding ethnicity-specific factors. Further large-scale transethnical studies are needed to clarify determinants and modifiers of SOD1 phenotypes.

Time-Lag Between Symptom Onset and Diagnosis of Subacute Thyroiditis – How to Avoid the Delay of Diagnosis and Unnecessary Overuse of Antibiotics

2019 ◽  
Vol 52 (01) ◽  
pp. 32-38 ◽  
Author(s):  
Magdalena Stasiak ◽  
Renata Michalak ◽  
Bartłomiej Stasiak ◽  
Andrzej Lewiński
Keyword(s):  
Antibiotic Treatment ◽  
Clinical Symptoms ◽  
Time Lag ◽  
Delayed Diagnosis ◽  
Simple Algorithm ◽  
Antibiotic Use ◽  
Treated Group ◽  
Subacute Thyroiditis ◽  
Reactive Protein ◽  
Laboratory Test Results

AbstractClinical symptoms of subacute thyroiditis (SAT) may be misleading and the proper diagnosis is significantly delayed, and many unnecessary therapeutic methods are used, including application of antibiotics. The purpose of the study is to analyze the reasons and frequency of delayed SAT diagnosis and unnecessary antibiotic treatment and to propose a simple algorithm to facilitate the diagnosis and prevent antibiotic abuse. Sixty-four SAT patients were divided into groups depending on the period of time from the first symptoms of SAT to diagnosis and on the unnecessary use of antibiotics. Data from medical history and laboratory test results were analyzed for individual groups to determine the reasons for delayed diagnosis and incorrect treatment. In 73% of patients, the diagnosis was delayed from over two weeks up to six months. Among 62 patients who provided data on antibiotic use, 29 (46.77%) were treated with one or more antibiotics due to SAT symptoms. Fever, preceding infection, increased C-reactive protein (CRP), and WBC were characteristic for the antibiotic treated group. Fever, preceding infection, increased CRP and WBC are typical for both SAT and infection and are the main symptoms leading to misdiagnosis and unnecessary antibiotic treatment in SAT. Thus, in all patients with neck pain or other SAT-like symptoms, thorough clinical examination of the neck is mandatory. When firm and/or tender thyroid nodule/goitre is present and erythrocyte sedimentation rate /CRP is increased, patient should be promptly referred to an endocrinologist, and antibiotics are not recommended.

Late-onset versus early-onset systemic lupus: characteristics and outcome in a national multicentre register (RELESSER)

Rheumatology ◽  
2020 ◽  
Author(s):  
Anne Riveros Frutos ◽  
Susana Holgado ◽  
Arantza Sanvisens Bergé ◽  
Irma Casas ◽  
Alejandro Olivé ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Early Onset ◽  
Clinical Course ◽  
Late Onset ◽  
Immunosuppressive Agents ◽  
Diagnostic Delay ◽  
Clinical Manifestations ◽  
Diagnostic Errors ◽  
Systemic Lupus ◽  
Female Ratio

Abstract Objective The aim of the present study was to describe the demographic, clinical and immunological characteristics of patients with late-onset (≥50 years) SLE vs patients with early-onset SLE (&lt;50 years). Methods We performed a cross-sectional retrospective study of 3619 patients from the RELESSER database (National Register of Patients with Systemic Lupus Erythematosus of the Spanish Society of Rheumatology). Results A total of 565 patients (15.6%) were classified as late-onset SLE and 3054 (84.4%) as early-onset SLE. The male-to-female ratio was 5:1. Mean (s.d.) age at diagnosis in the late-onset group was 57.4 (10.4) years. At diagnosis, patients with late-onset SLE had more comorbid conditions than patients with early-onset SLE; the most frequent was cardiovascular disease (P &lt;0.005). Furthermore, diagnostic delay was longer in patients with late-onset SLE [45.3 (3.1) vs 28.1 (1.0); P &lt;0.001]. Almost all patients with late-onset SLE (98.7%) were Caucasian. Compared with early-onset SLE and after adjustment for time since diagnosis, patients with late-onset SLE more frequently had serositis, major depression, thrombotic events, cardiac involvement and positive lupus anticoagulant values. They were also less frequently prescribed immunosuppressive agents. Mortality was greater in late-onset SLE (14.3% vs 4.7%; P &lt;0.001). Conclusion Late-onset SLE is insidious, with unusual clinical manifestations that can lead to diagnostic errors. Clinical course is generally indolent. Compared with early-onset disease, activity is generally reduced and immunosuppressants are less commonly used. Long-term prospective studies are necessary to determine whether the causes of death are associated with clinical course or with age-associated comorbidities in this population.

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