scholarly journals Atypical Early Onset Juvenile Sarcoidosis Presenting with Osteolytic Lesions

2018 ◽  
Vol 1 (1) ◽  
pp. 1-4
Author(s):  
Samar Alwafi ◽  
Razan Alluhaibi ◽  
Sahar Alsharif ◽  
Bader AlOmair
Keyword(s):  
Early Onset ◽  
Pediatric Patients ◽  
Clinical Course ◽  
Age Of Onset ◽  
Granulomatous Disease ◽  
Initial Manifestation ◽  
Osteolytic Lesions ◽  
Lytic Lesions ◽  
Osseous Sarcoidosis ◽  
Juvenile Sarcoidosis

Sarcoidosis is a potentially fatal systemic inflammatory granulomatous disease, can occur in adult and pediatric patients, but it is relatively rare in children. Juvenile sarcoidosis has a diverse clinical course depending on the age of onset. Bone involvement is rarely noted in children with sarcoidosis and usually seen late in the course of the disease and is rarely the initial manifestation. Here we report a case of early onset juvenile sarcoidosis revealed by cutaneous and osseous lytic lesions of the phalanges. Keywords: Atypical, Early onset, Juvenile, Sarcoidosis, Osteolytic lesions, Osseous sarcoidosis, Phalanges.

Case report of osteolytic lesions in a patient with multisystem granulomatous disease

2021 ◽  
Vol 14 (6) ◽  
pp. e242685
Author(s):  
Henco Nel ◽  
Brad Davis ◽  
Brendan Adler ◽  
Eli Gabbay
Keyword(s):  
Cervical Lymphadenopathy ◽  
Granulomatous Inflammation ◽  
Initial Response ◽  
Response To Treatment ◽  
Caucasian Woman ◽  
Granulomatous Disease ◽  
Osteolytic Lesions ◽  
Moderate Growth ◽  
Systemic Corticosteroids ◽  
Lytic Lesions

We present a case of a 70-year-old Caucasian woman with multisystem granulomatous disease involving her lungs, bones and lymph nodes. The patient initially presented with cervical lymphadenopathy and subsequently developed progressive breathlessness. Imaging revealed extensive mediastinal, hilar and intra-abdominal lymphadenopathy as well as bilateral pulmonary parenchymal infiltrates. Lymph node and lung biopsy confirmed non-necrotising granulomatous inflammation while a BAL showed scanty growth of Cryptococcus neoformans and moderate growth of Staphylococcus aureus. The patient received intravenous ceftriaxone and had a good response to treatment. She also completed 3 months of oral fluconazole. Although a diagnosis of sarcoidosis was considered most likely, the patient was not initially started on systemic corticosteroids due to concern around possible infection and initial response to antimicrobials. However, her exercise tolerance gradually deteriorated. A craniofacial CT revealed multiple lytic lesions involving the skull and visualised cervical spine. Biopsy of a clivus lesion revealed non-necrotising granulomatous inflammation while fungal cultures and histopathological stains were negative. The patient was diagnosed with widespread sarcoidosis and she was initiated on prednisolone and methotrexate which led to marked clinical and radiological improvement.

scholarly journals ANALYSIS OF THE ASSOCIATION OF BRONCHIAL ASTHMA CLINICAL COURSE WITH Arg16Gly POLYMORPHIC VARIANT IN THE β2-ADRENOCEPTOR GENE

2021 ◽  
Vol 17 (2) ◽  
pp. 70-76
Author(s):  
V.V. Kachkovska ◽  
L.N. Prystupa
Keyword(s):  
Bronchial Asthma ◽  
Early Onset ◽  
Clinical Course ◽  
Age Of Onset ◽  
Late Onset ◽  
Asthma Severity ◽  
Polymorphic Variant ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Arg16gly Polymorphism

Relevance. The relevance of the study of Arg16Gly polymorphism of the β2-adrenoceptor (β2-AR) gene is due to the fact that a number of studies have proven its role in the development of bronchial asthma (BA), bronchial hyperactivity, the effectiveness of basic treatment. However, these associations show low reproducibility in various studies, so the question of the possibility of clinical application of the results of genetic testing for Arg16Gly polymorphic variant of the β2-AR gene remains unanswered. The main reasons why the clinical significance of this polymorphism is not confirmed in various studies are - population heterogeneity, insufficient sample size, improper characterization of comparison groups. Objective: to study the association of Arg16Gly polymorphism in the β2-adrenoceptor gene with BA clinical course taking into account the age of onset. Materials and methods. We examined 553 BA patients (group I included 282 patients with late-onset asthma and group II included 271 patients with early-onset asthma) and 95 apparently healthy individuals. The study has been approved by the Bioethics Committee of Medical Institute of Sumy State University. Arg16Gly polymorphism in the β2-АR gene (rs1042713) was determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results. There was no significant difference in the distribution of genotypes for Arg16Gly polymorphism in the β2-AR gene depending on asthma severity with no regard for the age of onset (χ2 = 5.14; p = 0.27). With regard for the age of onset, we found out that early-onset BA was linked to a difference in genotype distribution for this polymorphic variant in patients with severe and non-severe course (χ2 = 14.76; р = 0.001). The frequency of Gly/Gly genotype was higher in patients with severe course (41.4%) as compared to patients with mild course (16.4%), while the frequency of Arg/Arg (32.9%) and Arg/Gly (50.7%) genotypes was higher in patients with mild asthma as compared to patients with severe course (24.3% and 34.3%). There was no significant difference in the distribution of genotypes in patients with late-onset asthma with regard to course severity (χ2 = 4.94; p = 0.084). The relative risk of severe course for early-onset asthma was 3.84 times higher (95% CI 2.11–7.36; p = 0.001) in the recessive model, 2.58 times higher (95% CI 1.53–4,37, p = 0.001) in the dominant model, and 2.16 times (95% CI 1.56–3.04) higher in the additive model. In patients with late-onset asthma, no association was found in all models. Conclusions. There was no significant difference in the distribution of genotypes for Arg16Gly polymorphism in the β2-AR gene depending on asthma severity with no regard for the age of onset. When adjusted for the age of onset, the analysis revealed a difference in genotype distribution for this polymorphic variant in patients with severe and non-severe course having early-onset BA (р = 0.001). The frequency of Gly/Gly genotype was higher in patients with severe course as compared to patients with mild course. For patients with late-onset asthma, no differences were found (p = 0.084). Heterozygous and homozygous Gly allele carriers have a higher risk of early-onset asthma only.

scholarly journals Microbiological profile in chronic granulomatous disease patients in a single Brazilian primary immunodeficiency center

2021 ◽  
Vol 49 (2) ◽  
pp. 217-224
Author(s):  
Aimée Filippini Bifulco Oliveira ◽  
Antonio Carlos Pastorino ◽  
Mayra de Barros Dorna ◽  
Ana Paula Beltran Moschione Castro ◽  
José Roberto Mendes Pegler ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Chronic Granulomatous Disease ◽  
Primary Immunodeficiency ◽  
Age Of Onset ◽  
Tertiary Hospital ◽  
Granulomatous Disease ◽  
Initial Manifestation ◽  
Adequate Treatment ◽  
Causative Agents ◽  
Aspergillus Sp

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of lung, skin, lymph nodes, and liver are the hallmark of CGD and frequently the initial manifestation of the disease. The aim of the present paper is to describe the sites of infections and their causative agents in 38 pediatric patients with CGD. Methods: This retrospective, single-center cohort study included CGD patients followed at the allergy and immunology unit of a tertiary hospital in São Paulo, Brazil over the last 40 years. Sites of infections and their causative agents were described. Results: Thirty-eight patients were included (36 males). The median age of onset of symptoms was 45 days (ranging from 7 days–7 years), and the median age at diagnosis was 23 months (ranging from 1 month–12 years). In all, 31.6% of the patients reported a family history of child deaths and 21% (eight cases) had another male family member with CGD. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%); 188 cultures were positive (85.6% bacteria; 14.4% fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in one patient (0.9%). Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents found in this cohort. M. tuberculosis should be considered in endemic area. Detection of infectious agents drives to the adequate treatment and benefits the evolution of patients with CGD.

scholarly journals Characteristics associated with clinical response to Comano thermal spring water balneotherapy in pediatric patients with atopic dermatitis

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Davide Geat ◽  
Mattia Giovannini ◽  
Ezio Gabriele Barlocco ◽  
Riccardo Pertile ◽  
Stefania Farina ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Clinical Response ◽  
Disease Severity ◽  
Early Onset ◽  
Pediatric Patients ◽  
Thermal Spring ◽  
Spring Water ◽  
Food Allergies ◽  
Thermal Spring Water

Abstract Background Several studies have investigated the efficacy of balneotherapy in atopic dermatitis (AD), including a pediatric open randomized clinical trial conducted at the Comano thermal spring water center, which showed a significant reduction in AD severity and an improvement of the quality of life. However, so far many studies on balneotherapy in pediatric AD have included relatively small populations without identifying patients’ characteristics associated with their response. The aim of the present study was to identify any features associated with the clinical response to the Comano thermal spring water balneotherapy in a large cohort of pediatric AD patients. Methods An observational study was conducted on 867 children aged ≤16 years (females 50.5%, mean patient’s age 5.9 years, standard deviation ±3.6 years) with mild to severe AD who underwent balneotherapy at the Comano thermal spring water center (Comano, Trentino, Italy) from April to October 2014. Patients were stratified according to their disease severity, which was evaluated using five SCORing Atopic Dermatitis (SCORAD) categories before and immediately after a thermal spring water balneotherapy course. Potential characteristics associated with the patients’ clinical response to Comano thermal spring water balneotherapy were investigated. Results A statistically significant improvement in AD severity was observed after Comano thermal spring water balneotherapy (p < 0.0001). A significantly higher percentage of patients achieving improvement in AD severity was reported among children ≤4 years old (p < 0.0001) with early-onset AD (p < 0.0001), severe AD (p < 0.0001) or coexistent reported food allergies (p < 0.01). The therapy was well tolerated, and no relevant adverse effects were reported during the treatment course. Conclusions Comano thermal spring water balneotherapy is a safe complementary treatment for pediatric patients with AD, as it was able to reduce the disease severity, especially in children ≤4 years old, with early onset AD, severe AD or concomitant food allergies.

Nongenetic Factors as Modifiers of the Age of Onset of Familial Alzheimer's Disease

2003 ◽  
Vol 15 (4) ◽  
pp. 337-349 ◽  
Author(s):  
Silvia Mejía ◽  
Margarita Giraldo ◽  
David Pineda ◽  
Alfredo Ardila ◽  
Francisco Lopera
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Logistic Regression ◽  
Early Onset ◽  
Age Of Onset ◽  
Univariate Analysis ◽  
Personal Factors ◽  
Familial Alzheimer’S Disease ◽  
Familial Alzheimer's Disease ◽  
High Level

Objective: The purpose of this research was to identify environmental and personal factors that could be related to the variability in the age of onset of familial Alzheimer's disease (FAD) (36–62 years). Methods: A sample was taken of 49 subjects with FAD and with the mutation E280A in the presenilin-1 gene on chromosome 14; the sample was divided into two subgroups: 27 individuals with age of onset of the disease between 36 and 46 years (early onset) and 22 individuals whose disease began between 47 and 62 years (late onset). Information on environmental and personal factors was collected by means of a questionnaire answered by the patients if their clinical condition allowed it, or by their relatives; such information was organized in a categorical way. Comparisons between the two groups for each categorical variable were done by means of the chi-square test. Noncollinear variables that showed statistical significance were included as independent variables in a logistic regression analysis to predict their association with early onset of the disease. Results: Only 5 of the 140 studied variables were different between the two groups in univariate analysis: education, surgical history, type of stressful event, depression, and affective losses. The logistic regression model was constituted by education, depression, and affective losses. High-level education had approximately 15 times more probability of association with an early onset of the disease; both the history of affective losses and depressive symptoms had 4 times more probability of a similar association. Conclusions: The association of high-level education and early onset of the disease could be related to an earlier detection of symptoms, in turn determined by greater intellectual and environmental demands. The occurrence of depression and affective losses has been considered a prodromic manifestation of the disease. Our findings are evidence of high clinical heterogeneity even in a genetically homogeneous group.

Safety and efficacy of therapeutic early onset granulocyte transfusions in pediatric patients with neutropenia and severe infections

Transfusion ◽  
2006 ◽  
Vol 46 (11) ◽  
pp. 1909-1914 ◽  
Author(s):  
Ulrich J.H. Sachs ◽  
Alfred Reiter ◽  
Tobias Walter ◽  
Gregor Bein ◽  
Wilhelm Woessmann
Keyword(s):  
Early Onset ◽  
Pediatric Patients ◽  
Safety And Efficacy ◽  
Severe Infections

ANOREXIA NERVOSA

PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 525-525
Author(s):  
Robert J. Haggerty
Keyword(s):  
Anorexia Nervosa ◽  
Early Onset ◽  
Age Of Onset ◽  
Outcome Studies ◽  
Psychosomatic Disorder ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Follow Up Studies

Anorexia nervosa is a serious psychosomatic disorder which most typically begins between 16 and 18 years of age. Clinicians have often held that early onset (eg, ages 11 to 15) is associated with a better outcome. This paper reviews the long-term outcome studies on anorexia nervosa and concludes that this contention is not supported by available data. The methodologies of seven outcome studies that focus on an early onset population are critiqued, and it is concluded that two methodologies are strong. Because of the increasing prevalence of anorexia nervosa, this once rare disorder can now be more easily investigated, and consequently better follow-up studies, which examine potential prognostic factors including age of onset, should be forthcoming.

The clinical course and role of surgery in pediatric malignant peripheral nerve sheath tumors: a database study

2021 ◽  
pp. 1-8
Author(s):  
Victor M. Lu ◽  
Shelly Wang ◽  
David J. Daniels ◽  
Robert J. Spinner ◽  
Allan D. Levi ◽  
...  
Keyword(s):  
Overall Survival ◽  
Radiation Therapy ◽  
Peripheral Nerve ◽  
Pediatric Patients ◽  
Clinical Course ◽  
The Body ◽  
National Database ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

OBJECTIVE Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors found throughout the body, with their clinical course in children still not completely understood. Correspondingly, this study aimed to determine survival outcomes and specific clinical predictors of survival in this population from a large national database. METHODS All patients with MPNSTs aged ≤ 18 years in the US National Cancer Database (NCDB) between 2005 and 2016 were retrospectively reviewed. Data were summarized, and overall survival was modeled using Kaplan-Meier and Cox regression analyses. RESULTS A total of 251 pediatric patients with MPNSTs (132 [53%] females and 119 [47%] males) were identified; the mean age at diagnosis was 13.1 years (range 1–18 years). There were 84 (33%) MPNSTs located in the extremities, 127 (51%) were smaller than 1 cm, and 22 (9%) had metastasis at the time of diagnosis. In terms of treatment, surgery was pursued in 187 patients (74%), chemotherapy in 116 patients (46%), and radiation therapy in 129 patients (61%). The 5-year overall survival rate was estimated at 52% (95% CI 45%–59%), with a median survival of 64 months (range 36–136 months). Multivariate regression revealed that older age (HR 1.10, p < 0.01), metastases at the time of diagnosis (HR 2.14, p = 0.01), and undergoing biopsy only (HR 2.98, p < 0.01) significantly and independently predicted a shorter overall survival. Chemotherapy and radiation therapy were not statistically significant. CONCLUSIONS In this study, the authors found that older patient age, tumor metastases at the time of diagnosis, and undergoing only biopsy significantly and independently predicted poorer outcomes. Only approximately half of patients survived to 5 years. These results have shown a clear survival benefit in pursuing maximal safe resection in pediatric patients with MPNSTs. As such, judicious workup with meticulous resection by an expert team should be considered the standard of care for these tumors in children.

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.

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