scholarly journals Reported symptoms differentiate diagnoses in children with exercise-induced respiratory problems: findings from the Swiss Paediatric Airway Cohort (SPAC)

2020 ◽  
Author(s):  
Eva SL Pedersen ◽  
Carmen CM de Jong ◽  
Cristina Ardura-Garcia ◽  
Maria Christina Mallet ◽  
Juerg Barben ◽  
...  
Keyword(s):  
Late Onset ◽  
Outpatient Clinics ◽  
Relative Risk Ratio ◽  
List Type ◽  
Multinomial Regression ◽  
Management Guidelines ◽  
Respiratory Problems ◽  
Clinical Presentations ◽  
Dysfunctional Breathing ◽  
Exercise Induced

AbstractBackgroundExercise-induced breathing problems with similar clinical presentations can have different aetiologies. This makes distinguishing common diagnoses such as asthma, extrathoracic and thoracic dysfunctional breathing (DB), insufficient fitness, and chronic cough difficult.ObjectiveWe studied which parent-reported, exercise-induced symptoms (EIS) can help distinguish diagnoses of EIS in children seen in respiratory outpatient clinics.MethodsThis study was nested in the Swiss Paediatric Airway Cohort (SPAC), an observational study of children aged 0-17 years referred to paediatric respiratory outpatient clinics in Switzerland. We studied children aged 6-17 years and compared information on EIS from parent-completed questionnaires between children with different diagnoses. We used multinomial regression to analyse whether parent-reported symptoms differed between diagnoses (asthma as base).ResultsAmong 1109 children, EIS were reported for 732 (66%) (mean age 11 years, 318 of 732 [43%] female). Among the symptoms, dyspnoea best distinguished thoracic DB (relative risk ratio [RRR] 5.4, 95%CI 1.3-22) from asthma. Among exercise triggers, swimming best distinguished thoracic DB (RRR 2.4, 95%CI 1.3-6.2) and asthma plus DB (RRR 1.8, 95%CI 0.9-3.4) from asthma only. Late onset of EIS was less common for extrathoracic DB (RRR 0.1, 95%CI 0.03-0.5) and thoracic DB (RRR 0.4, 95%CI 0.1-1.2) compared with asthma. Localisation of dyspnoea (throat vs. chest) differed between extrathoracic DB (RRR 2.3, 95%CI 0.9-5.8) and asthma. Reported respiration phase (inspiration or expiration) did not help distinguish diagnoses.ConclusionParent-reported symptoms help distinguish different diagnoses in children with EIS. This highlights the importance of physicians obtaining detailed patient histories.Highlights boxWhat is already known about this topic?Experts suggest that information about the symptoms and their onset and duration can assist accurate diagnosis of children with exercise-induced respiratory problems, but no original studies have tested this. (29/35 words)What does this article add to our knowledge?Exercise-induced symptoms reported by parents and further information about their onset, triggers, and effects of treatment help differentiate diagnoses in children with exercise-induced respiratory problems. (25/35 words)How does this study impact current management guidelines?Our results emphasize the importance of taking detailed symptom histories of children with exercise-induced problems, and suggest which questions are most helpful.

scholarly journals Diagnosis in children with exercise-induced respiratory symptoms: a multi-centre study

2020 ◽  
Author(s):  
Eva SL Pedersen ◽  
Cristina Ardura-Garcia ◽  
Carmen CM de Jong ◽  
Anja Jochmann ◽  
Alexander Moeller ◽  
...  
Keyword(s):  
Outpatient Clinic ◽  
Respiratory Symptoms ◽  
Final Diagnosis ◽  
Diagnostic Evaluation ◽  
Outpatient Clinics ◽  
List Type ◽  
Multi Centre Study ◽  
Dysfunctional Breathing ◽  
Exercise Induced

AbstractObjectiveExercise-induced respiratory symptoms (EIS) are common in childhood and reflect different diseases that can be difficult to diagnose. In children referred to respiratory outpatient clinics for EIS, we compared the diagnosis proposed by the referring primary care physician with the final diagnosis from the outpatient clinic and described diagnostic tests performed and treatment prescribed after the diagnostic evaluation.DesignObservational study nested in the Swiss Paediatric Airway Cohort (SPAC), which includes respiratory outpatients aged 0-16 years.PatientsWe included children with EIS as main reason for referral. Information about diagnostic investigations, final diagnosis, and treatment prescribed came from outpatient records.Results214 were referred for EIS (mean age 12 years, 99 (46%) female). The final diagnosis was asthma in 115 (54%), extrathoracic dysfunctional breathing (DB) in 35 (16%), thoracic DB in 22 (10%), asthma plus DB in 23 (11%), insufficient fitness in 10 (5%), chronic cough in 6 (3%), and other diagnoses in 3 (1%). Final diagnosis differed from referral diagnosis in 115 (54%). Spirometry, body plethysmography and measurements of exhaled nitric oxide were performed in almost all; exercise-challenge tests in a third. 91% of the children with a final diagnosis of asthma were prescribed inhaled medication and 50% of children with DB were referred to physiotherapy.ConclusionsDiagnosis given at the outpatient clinic often differed from the diagnosis suspected by the referring physician. Diagnostic evaluation, management and follow-up were inconsistent between clinics and diagnostic groups, highlighting the need for diagnostic guidelines in children seen for EIS.Mandatory statements for Archives of Disease in ChildhoodWhat is already known on this topic (2-3 statements of max 25 words)Exercise-induced symptoms are common in childhood but not easy to diagnose because different diagnoses share similar clinical presentationsOnly few studies focused on children with exercise-induced symptoms and all have included selected groups of patients with difficult-to-diagnose problemsWhat this study adds (2-3 statements of max 25 words)Exercise-induced respiratory symptoms was the main reason for referral in one fifth of the children referred to paediatric respiratory outpatient clinics.Dysfunctional breathing is an under-recognised diagnosis; it was frequently diagnosed in the outpatient clinic (in 37%) but rarely suspected by the referring physician (6%)Diagnostic evaluation, management, and follow-up were inconsistent between clinics highlighting the need for diagnostic guidelines in children seen for EIS.

scholarly journals Dysfunctional breathing and reaching one’s physiological limit as causes of exercise-induced dyspnoea

Breathe ◽  
2016 ◽  
Vol 12 (2) ◽  
pp. 120-129 ◽  
Author(s):  
Julie Depiazzi ◽  
Mark L. Everard
Keyword(s):  
Drug Therapy ◽  
Cardiopulmonary Exercise Testing ◽  
Cost Effective ◽  
List Type ◽  
Accurate Assessment ◽  
Key Points ◽  
Physiological Limit ◽  
Young Subjects ◽  
Dysfunctional Breathing ◽  
Exercise Induced

Key pointsExcessive exercise-induced shortness of breath is a common complaint. For some, exercise-induced bronchoconstriction is the primary cause and for a small minority there may be an alternative organic pathology. However for many, the cause will be simply reaching their physiological limit or be due to a functional form of dysfunctional breathing, neither of which require drug therapy.The physiological limit category includes deconditioned individuals, such as those who have been through intensive care and require rehabilitation, as well as the unfit and the fit competitive athlete who has reached their limit with both of these latter groups requiring explanation and advice.Dysfunctional breathing is an umbrella term for an alteration in the normal biomechanical patterns of breathing that result in intermittent or chronic symptoms, which may be respiratory and/or nonrespiratory. This alteration may be due to structural causes or, much more commonly, be functional as exemplified by thoracic pattern disordered breathing (PDB) and extrathoracic paradoxical vocal fold motion disorder (pVFMD).Careful history and examination together with spirometry may identify those likely to have PDB and/or pVFMD. Where there is doubt about aetiology, cardiopulmonary exercise testing may be required to identify the deconditioned, unfit or fit individual reaching their physiological limit and PDB, while continuous laryngoscopy during exercise is increasingly becoming the benchmark for assessing extrathoracic causes.Accurate assessment and diagnosis can prevent excessive use of drug therapy and result in effective management of the cause of the individual’s complaint through cost-effective approaches such as reassurance, advice, breathing retraining and vocal exercises.This review provides an overview of the spectrum of conditions that can present as exercise-­induced breathlessness experienced by young subjects participating in sport and aims to promote understanding of the need for accurate assessment of an individual’s symptoms. We will highlight the high incidence of nonasthmatic causes, which simply require reassurance or simple interventions from respiratory physiotherapists or speech pathologists.

scholarly journals Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

2018 ◽  
Author(s):  
Xia Wang ◽  
Jill A. Rosenfeld ◽  
Carlos A. Bacino ◽  
Fernando Scaglia ◽  
LaDonna Immken ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Heart ◽  
De Novo ◽  
Late Onset ◽  
Common Cause ◽  
Respiratory Problems ◽  
Clinical Presentations ◽  
Mitochondrial Dna Depletion ◽  
Common Causes ◽  
Dna Variants

AbstractDe novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID), one of the most common causes of ID, in females. Forty-seven patients (44 females, 3 males) have been described. We identified 29 additional individuals carrying 27 unique DDX3X variants in the setting of complex clinical presentations including developmental delay or ID. In addition to previously reported manifestations, rare or novel phenotypes were identified including respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline. Our findings expand the spectrum of DNA variants and phenotypes associated with DDX3X disorders.

Abstract 5949: Abnormal NT-Pro-BNP Levels in Asymptomatic Long Term Survivors of Childhood Cancer Treated with Anthracyclines

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Annelies M Mavinkurve-Groothuis ◽  
Jacqueline Groot-Loonen ◽  
Louise Bellersen ◽  
Milanthy S Pourier ◽  
Ton Feuth ◽  
...  
Keyword(s):  
Childhood Cancer ◽  
Late Onset ◽  
Troponin T ◽  
Plasma Concentrations ◽  
Left Ventricular ◽  
Internal Diameter ◽  
List Type ◽  
Survivors Of Childhood Cancer ◽  
Long Term Survivors

Objectives : to document plasma concentrations of cardiac Troponin T (cTnT) and NT-pro-brain natriuretic peptide (NT-pro-BNP) in a large group of asymptomatic long term survivors of childhood cancer treated with anthracyclines, to study the relation of the abnormal biomarker levels with different risk factors for anthracycline-induced cardiotoxicity and conventional echocardiographic parameters. Methods : 122 asymptomatic survivors of childhood cancer underwent a detailed echocardiography. Blood samples were taken to determine the levels of NT-pro-BNP and cTnT. Results : None of the survivors had abnormal cTnT levels. The mean NT-pro-BNP level of our survivor group was 10 pmol/l (SD±9) with a range of 1–55 pmol/l. Thirteen percent of the survivors had abnormal NT-pro-BNP levels. Abnormal NT-pro-BNP levels were significantly related to cumulative anthracycline dosage (p<0.003). Eleven of 31 (35%) survivors treated with cumulative anthracycline dose of 300 mg/m 2 or more, had abnormal NT-pro-BNP levels which were significantly related to end-diastolic left ventricular internal diameter (LVIDd) indexed for body surface area (BSA) (p<0.01). Conclusion : Cardiac TnT does not contribute to the early detection of late onset anthracyline-induced cardiotoxicity. Abnormal levels of NT-pro-BNP were frequently detected in asymptomatic, long term survivors of childhood cancer. Follow up of these survivors, with both echocardiography and NT-pro-BNP, is essential to answer the question whether NT-pro-BNP is an early marker for late onset anthracycline-induced cardiotoxicity.

Gardnerella vaginalis Clade Distribution Is Associated With Behavioral Practices and Nugent Score in Women Who Have Sex With Women

2019 ◽  
Author(s):  
Erica L Plummer ◽  
Lenka A Vodstrcil ◽  
Gerald L Murray ◽  
Christopher K Fairley ◽  
Jennifer A Danielewski ◽  
...  
Keyword(s):  
Gardnerella Vaginalis ◽  
Relative Risk Ratio ◽  
Multinomial Regression ◽  
Nugent Score ◽  
Factors Associated ◽  
Female Partners ◽  
Vaginal Sex ◽  
Clade 1 ◽  
Species Specific ◽  
Sex Toys

Abstract Background Gardnerella vaginalis is detected in women with and without bacterial vaginosis (BV). Identification of 4 G. vaginalis clades raised the possibility that pathogenic and commensal clades exist. We investigated the association of behavioral practices and Nugent Score with G. vaginalis clade distribution in women who have sex with women (WSW). Methods Longitudinal self-collected vaginal specimens were analyzed using established G. vaginalis species-specific and clade-typing polymerase chain reaction assays. Logistic regression assessed factors associated with detection of G. vaginalis clades, and multinomial regression assessed factors associated with number of clades. Results Clades 1, 2, and 3 and multiclade communities (<2 clades) were associated with Nugent-BV. Clade 1 (odds ratio [OR], 3.36; 95% confidence interval [CI], 1.65–6.84) and multiclade communities (relative risk ratio [RRR], 9.51; 95% CI, 4.36–20.73) were also associated with Lactobacillus-deficient vaginal microbiota. Clade 4 was neither associated with Nugent-BV nor Lactobacillus-deficient microbiota (OR, 1.49; 95% CI, 0.67–3.33). Specific clades were associated with differing behavioral practices. Clade 1 was associated with increasing number of recent sexual partners and smoking, whereas clade 2 was associated with penile-vaginal sex and sharing of sex toys with female partners. Conclusions Our results suggest that G. vaginalis clades have varying levels of pathogenicity in WSW, with acquisition occurring through sexual activity. These findings suggest that partner treatment may be an appropriate strategy to improve BV cure.

scholarly journals Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

2017 ◽  
Vol 2017 ◽  
Author(s):  
Marina Tsoli ◽  
Anna Angelousi ◽  
Dimitra Rontogianni ◽  
Constantine Stratakis ◽  
Gregory Kaltsas
Keyword(s):  
Parathyroid Carcinoma ◽  
Late Onset ◽  
Tumor Biology ◽  
Elevated Serum ◽  
Specific Treatment ◽  
Distant Metastases ◽  
List Type ◽  
Parathyroid Cancer ◽  
Laboratory Findings ◽  
The Right

Summary Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment. Learning points: Metastases can develop many years after parathyroid cancer diagnosis. Surgery is the only curative treatment for parathyroid carcinoma. Chemotherapy and radiotherapy prove to be ineffective in parathyroid cancer treatment. Patient registering is required in order to delineate underlining pathology and offer specific treatment.

scholarly journals Leprosy neuropathy: clinical presentations

2013 ◽  
Vol 71 (9B) ◽  
pp. 661-666 ◽  
Author(s):  
Osvaldo J M Nascimento
Keyword(s):  
Late Onset ◽  
Early Recognition ◽  
Skin Lesions ◽  
Multidrug Therapy ◽  
Clinical Presentations ◽  
Peripheral Nerve Involvement ◽  
Inflammatory Neuropathy ◽  
Leprosy Neuropathy ◽  
Autonomic Dysfunctions

Leprosy is a chronic infectious peripheral neuropathy caused by Mycobacterium leprae. The different clinical presentations of the disease are determined by the quality of the host immune response. Early detection of leprosy and treatment by multidrug therapy are the most important steps in preventing deformity and disability. Thus the early recognition of the clinical leprosy presentation is essential. Mononeuritis, mononeuritis multiplex (MM), polyneuritis (MM summation) are the most frequent. The frequent anesthetic skin lesions are absent in the pure neuritic leprosy presentation form. Isolated peripheral nerve involvement is common, including the cranial ones. Arthritic presentation is occasionally seen, usually misdiagnosed as rheumatoid arthritis. Attention should be given to autonomic dysfunctions in leprosy. There are clinical presentations with severe neuropathic pain - painful small-fiber neuropathy. Leprous late-onset neuropathy (LLON) clinical presentation should be considered facing a patient who develop an inflammatory neuropathy many years after a previous skin leprosy treatment.

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

2020 ◽  
Vol 92 (1) ◽  
pp. 27-35
Author(s):  
Christophe Carreau ◽  
Charline Benoit ◽  
Guido Ahle ◽  
Cécile Cauquil ◽  
Agathe Roubertie ◽  
...  
Keyword(s):  
Late Onset ◽  
High Dose ◽  
Motor Neuropathy ◽  
Biochemical Tests ◽  
Oral Supplementation ◽  
Clinical Presentations ◽  
Hereditary Motor Neuropathy ◽  
Transporter Deficiency ◽  
Per Oral ◽  
Lateral Sclerosis

ObjectiveRiboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2 genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a hereditary paediatric condition associating motor neuropathy (MN) and deafness. BVVL/RTD has rarely been reported in adult patients, but is probably underdiagnosed due to poor knowledge and lack of awareness of this form of disease among neurologists. In this study, we aimed to investigate the phenotype and prognosis of RTD patients with late-onset MN.MethodsWe retrospectively collected clinical, biological and electrophysiological data from all French RTD patients with MN onset after 10 years of age (n=6) and extracted data from 19 other similar RTD patients from the literature.ResultsAdult RTD patients with MN had heterogeneous clinical presentations, potentially mimicking amyotrophic lateral sclerosis or distal hereditary motor neuropathy (56%), multinevritis with cranial nerve involvement (16%), Guillain-Barré syndrome (8%) and mixed motor and sensory neuronopathy syndromes (20%, only in SLC52A2 patients). Deafness was often diagnosed before MN (in 44%), but in some patients, onset began only with MN (16%). The pattern of weakness varied widely, and the classic pontobulbar palsy described in BVVL was not constant. Biochemical tests were often normal. The majority of patients improved under riboflavin supplementation (86%).InterpretationWhereas late-onset RTD may mimic different acquired or genetic causes of motor neuropathies, it is a diagnosis not to be missed since high-dose riboflavin per oral supplementation is often highly efficient.

scholarly journals Update on Congenital Myopathies in Adulthood

2020 ◽  
Vol 21 (10) ◽  
pp. 3694
Author(s):  
George Konstantinos Papadimas ◽  
Sophia Xirou ◽  
Evangelia Kararizou ◽  
Constantinos Papadopoulos
Keyword(s):  
Muscle Biopsy ◽  
Genetic Basis ◽  
Late Onset ◽  
Congenital Myopathies ◽  
Histopathological Findings ◽  
Muscle Diseases ◽  
Phenotypic Spectrum ◽  
Clinical Presentations ◽  
Genetic Technologies ◽  
Key Features

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.

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