scholarly journals Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Daniele Tessaris ◽  
Elisa Bonino ◽  
Giovanna Weber ◽  
Malgorzata Wasniewska ◽  
Domenico Corica ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Clinical Practice ◽  
Care Pathway ◽  
Delayed Puberty ◽  
Endocrine Disorders ◽  
Clinical Approach ◽  
Pediatric Endocrinology ◽  
Bone Mineral Status ◽  
Few Data

Abstract Background Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical features such as short stature, obesity, cognitive impairment, subcutaneous ossifications and brachydactyly. Delayed puberty, GHRH and calcitonin resistances have also been described. The healthcare-pathway recently proposed by the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) has provided a standardized clinical approach to these conditions. The purpose of the present study was to evaluate its application in clinical practice, and to collect data for setting future specific studies. Methods Through a semi-structured survey, based on the indications of the care-pathway, data on PHP clinical management were collected. The compilation of each data in the survey was read as an index of the adoption of the healthcare-pathway in clinical practice. Results In addition to the proposing Center, 4 Centers joined the study, thus obtaining a large collection of data on 48 PHP patients. Highest rates in the completion of data were obtained for diagnostic history, auxological measurements and subcutaneous ossifications evaluation. As expected, the availability of data for the other investigated fields was lower, coming from recent research studies. More information has been obtained on hormonal resistance classically involved in PHP (PTH, TSH, GHRH and GnRH) and on cognitive impairment, while a few data has been collected on bone mineral status, calcitonin levels and glucolipid metabolism. Conclusions The presented data show that the ISPED healthcare-pathway could represent a valid tool both to confirm the clinical approach to PHP patients and to allow homogeneous data collection; however, it has not yet been fully adopted. The strengthening of the network among the major Italian Endocrine Centers will contribute to improve its application in clinical practice, optimizing the follow-up of these patients and increasing knowledge on PHP.

scholarly journals HAVAs: Alzheimer’s Disease Detection using Normative and Pathological Lifespan Models

2021 ◽  
Author(s):  
Pierrick Coupé ◽  
José V. Manjón ◽  
Boris Mansencal ◽  
Thomas Tourdias ◽  
Gwenaëlle Catheline ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Deep Learning ◽  
Cognitive Impairment ◽  
Clinical Practice ◽  
State Of The Art ◽  
Brain Structures ◽  
Volumetric Analysis ◽  
Classification Performance

AbstractIn this paper, we present an innovative MRI-based method for Alzheimer’s Disease (AD) detection and mild cognitive impairment (MCI) prognostic, using lifespan trajectories of brain structures. After a full screening of the most discriminant structures between AD and normal aging based on MRI volumetric analysis of 3032 subjects, we propose a novel Hippocampal-Amygdalo-Ventricular Alzheimer score (HAVAs) based on normative lifespan models and AD lifespan models. During a validation on three external datasets on 1039 subjects, our approach showed very accurate detection (AUC ≥ 94%) of patients with AD compared to control subjects and accurate discrimination (AUC=78%) between progressive MCI and stable MCI (during a 3 years follow-up). Compared to normative modelling and recent state-of-the-art deep learning methods, our method demonstrated better classification performance. Moreover, HAVAs simplicity makes it fully understandable and thus well-suited for clinical practice or future pharmaceutical trials.

Cognitive impairment predicts disability progression and cortical thinning in MS: An 8-year study

2016 ◽  
Vol 23 (6) ◽  
pp. 848-854 ◽  
Author(s):  
Marco Pitteri ◽  
Chiara Romualdi ◽  
Roberta Magliozzi ◽  
Salvatore Monaco ◽  
Massimiliano Calabrese
Keyword(s):  
Cognitive Impairment ◽  
Structural Mri ◽  
Disability Progression ◽  
Cortical Thinning ◽  
Immune Mediated ◽  
Relapsing Remitting ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri ◽  
Few Data

Background: Multiple sclerosis (MS) is a chronic immune-mediated disease of the central nervous system (CNS). Although cognitive impairment (CI) affects a large proportion of MS patients, only few data are available about its prognostic value associated with advanced magnetic resonance imaging (MRI) metrics. Objectives: We aimed at investigating the relationship between the early CI and the disease progression over 8-year follow-up in MS patients. Methods: We conducted a retrospective 8-year longitudinal study involving 78 patients with relapsing-remitting MS, who completed neuropsychological examination and structural MRI at the time of diagnosis. Each patient was clinically evaluated every 6 months, and cortical thickness was quantified at baseline and at the end of the follow-up. Patients were classified as having normal cognition and mild or severe CI. Results: The results show that CI at the time of diagnosis is a good predictor of conversion to definite MS ( p < 0.001), disability progression ( p < 0.001), as well as of transition to secondary progressive phase ( p < 0.001) and of cortical thinning ( p < 0.001). Conclusion: We confirmed and extended the evidence that early CI might be helpful in the identification of MS patients at high risk of disability progression and poor clinical outcome and should be considered as a marker of most aggressive pathology.

High prevalence of early endocrine disorders after childhood brain tumors in a large cohort

2021 ◽  
Author(s):  
Laura Gabriela González Briceño ◽  
Dulanjalee Kariyawasam ◽  
Dinane Samara-Boustani ◽  
Elisa Giani ◽  
Jacques Beltrand ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Study Data ◽  
Anatomical Location ◽  
Endocrine Disorders ◽  
Pediatric Endocrinology ◽  
Early Puberty ◽  
High Prevalence ◽  
Pituitary Irradiation ◽  
Tumor Types

Abstract Objective To describe the endocrine follow-up of patients with primary brain tumors. Methods non interventional observational study, data collection from medical records of 221 patients followed at a Pediatric Endocrinology Department. Results 48.9% were female, median age at diagnosis: 6.7 years (range: 0-15.9), median follow-up: 6.7 years (0.3-26.6). Main tumor types: medulloblastoma (37.6%), craniopharyngioma (29.0%) and glioma (20.4%). According to anatomical location, 48% were suprasellar (SS) and 52% non-suprasellar (NSS). GH deficiency (GHD) prevalence was similar in both groups (SS: 83.0%, NSS: 76.5%, p=0.338), appearing in median 1.8 years (-0.8 to 12.4) after diagnosis; post-radiotherapy GHD appeared in median 1.6 years after radiotherapy (0.2 to 10.7). Hypothyroidism was more prevalent in SS (76.4%), than NSS (33.9%), p&lt;0.001, as well as ACTH deficiency (SS: 69.8%, NSS: 6.1%, p&lt;0.001). Early puberty was similar in SS (16%) and NSS (12.2%). Hypogonatropic hypogonadism was predominant in SS (63.1%) vs NSS (1.3%), p&lt;0.001, and post-chemotherapy gonadal toxicity in NSS (29.6%) vs SS (2.8%), p&lt;0.001. Adult height was lower for NSS compared to target height (-1.0 SD, p&lt;0.0001) and to SS patients (p&lt;0.0001). Thyroid nodules were found in 13/45 patients (28.8%), including 4 cancers (4.8-11.5 years after radiotherapy). Last follow-up visit BMI was higher in both groups (p=0.0001), obesity incidence was higher for SS (46.2%) than NSS (17.4%). Conclusions We found a high incidence of early onset endocrine disorders. An endocrine consultation and nutritional evaluation should be mandatory for all patients with a brain tumor, especially when the tumor is suprasellar or after hypothalamus/pituitary irradiation.

scholarly journals Correlation between Motor Cortex Excitability Changes and Cognitive Impairment in Vascular Depression: Pathophysiological Insights from a Longitudinal TMS Study

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Manuela Pennisi ◽  
Giuseppe Lanza ◽  
Mariagiovanna Cantone ◽  
Riccardo Ricceri ◽  
Concetto Spampinato ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Vascular Cognitive Impairment ◽  
Vascular Lesions ◽  
Glutamatergic Neurotransmission ◽  
Cortical Circuits ◽  
Vascular Depression ◽  
Functional Changes ◽  
Motor Cortex Excitability ◽  
Few Data

Background. Transcranial magnetic stimulation (TMS) highlighted functional changes in dementia, whereas there are few data in patients with vascular cognitive impairment-no dementia (VCI-ND). Similarly, little is known about the neurophysiological impact of vascular depression (VD) on deterioration of cognitive functions. We test whether depression might affect not only cognition but also specific cortical circuits in subcortical vascular disease. Methods. Sixteen VCI-ND and 11 VD patients, age-matched with 15 controls, underwent a clinical-cognitive, neuroimaging, and TMS assessment. After approximately two years, all participants were prospectively reevaluated. Results. At baseline, a significant more pronounced intracortical facilitation (ICF) was found in VCI-ND patients. Reevaluation revealed an increase of the global excitability in both VCI-ND and VD subjects. At follow-up, the ICF of VCI-ND becomes similar to the other groups. Only VD patients showed cognitive deterioration. Conclusions. Unlike VD, the hyperfacilitation found at baseline in VCI-ND patients suggests enhanced glutamatergic neurotransmission that might contribute to the preservation of cognitive functioning. The hyperexcitability observed at follow-up in both groups of patients also indicates functional changes in glutamatergic neurotransmission. The mechanisms enhancing the risk of dementia in VD might be related either to subcortical vascular lesions or to the lack of compensatory functional cortical changes.

scholarly journals Education to Improve Dementia Care:

2018 ◽  
Vol 50 (3) ◽  
pp. 195-203 ◽  
Author(s):  
Linda Lee ◽  
W. Wayne Weston ◽  
Loretta M. Hillier
Keyword(s):  
Cognitive Impairment ◽  
Clinical Practice ◽  
Clinical Reasoning ◽  
Dementia Care ◽  
Memory Problems ◽  
New Learning ◽  
Primary Care Clinicians ◽  
Practice Methods ◽  
The Impact

Background and Objectives: Dementia often goes undiagnosed. A workshop was developed to provide primary care clinicians with a structured clinical reasoning approach to dementia diagnosis and brain map tool to differentiate type of dementia. The purpose of this study was to examine the impact of this approach on self-perceived changes in knowledge, confidence, and ability to assess and manage memory problems and on self-reported application of learning to clinical practice. Methods: Participants of 20 workshops (N=392) were invited to complete a reaction survey and of these, participants of 12 consecutive workshops (N=242) were invited to complete a 3-month follow-up survey to assess application of new learning to clinical practice and challenges experienced in doing so. Results: In total, 355 reaction and 108 follow-up surveys were completed. Mean ratings of usefulness reflected that participants considered the clinical reasoning approach and brain map very useful to learning and knowledge transfer. At follow-up, the majority of respondents reported they were more confident (79%) and better able to assess (79%) persons with cognitive impairment and more confident (88%) and better able to manage (86%) persons with cognitive impairment. A number of practice changes and challenges were identified. Conclusions: These results add to a growing literature on strategies to improve dementia care with effective continuing medical education. A structured clinical reasoning approach to cognitive impairment is effective in improving confidence and ability to assess and manage patients with cognitive impairment, although participants continue to experience challenges in managing this complex condition.

What Does Evidence-Based Practice Mean to You? A Follow-Up Study Examining School-Based Speech-Language Pathologists' Perspectives on Evidence-Based Practice

2020 ◽  
Vol 29 (2) ◽  
pp. 688-704
Author(s):  
Katrina Fulcher-Rood ◽  
Anny Castilla-Earls ◽  
Jeff Higginbotham
Keyword(s):  
Clinical Practice ◽  
Research Evidence ◽  
Evidence Based Practice ◽  
Evidence Based ◽  
Clinical Expertise ◽  
Speech Language Pathologists ◽  
School Based ◽  
Research Findings ◽  
Ebp Implementation

Purpose The current investigation is a follow-up from a previous study examining child language diagnostic decision making in school-based speech-language pathologists (SLPs). The purpose of this study was to examine the SLPs' perspectives regarding the use of evidence-based practice (EBP) in their clinical work. Method Semistructured phone interviews were conducted with 25 school-based SLPs who previously participated in an earlier study by Fulcher-Rood et al. 2018). SLPs were asked questions regarding their definition of EBP, the value of research evidence, contexts in which they implement scientific literature in clinical practice, and the barriers to implementing EBP. Results SLPs' definitions of EBP differed from current definitions, in that SLPs only included the use of research findings. SLPs seem to discuss EBP as it relates to treatment and not assessment. Reported barriers to EBP implementation were insufficient time, limited funding, and restrictions from their employment setting. SLPs found it difficult to translate research findings to clinical practice. SLPs implemented external research evidence when they did not have enough clinical expertise regarding a specific client or when they needed scientific evidence to support a strategy they used. Conclusions SLPs appear to use EBP for specific reasons and not for every clinical decision they make. In addition, SLPs rely on EBP for treatment decisions and not for assessment decisions. Educational systems potentially present other challenges that need to be considered for EBP implementation. Considerations for implementation science and the research-to-practice gap are discussed.

Brain FDG PET for the Etiological Diagnosis of Clinically Uncertain Cognitive Impairment During Delirium in Remission

2020 ◽  
Vol 77 (4) ◽  
pp. 1609-1622
Author(s):  
Franziska Mathies ◽  
Catharina Lange ◽  
Anja Mäurer ◽  
Ivayla Apostolova ◽  
Susanne Klutmann ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Fdg Pet ◽  
False Negative ◽  
Ground Truth ◽  
Etiological Diagnosis ◽  
Geriatric Unit ◽  
Positron Emission ◽  
The Brain ◽  
Hospitalized Geriatric Patients

Background: Positron emission tomography (PET) of the brain with 2-[F-18]-fluoro-2-deoxy-D-glucose (FDG) is widely used for the etiological diagnosis of clinically uncertain cognitive impairment (CUCI). Acute full-blown delirium can cause reversible alterations of FDG uptake that mimic neurodegenerative disease. Objective: This study tested whether delirium in remission affects the performance of FDG PET for differentiation between neurodegenerative and non-neurodegenerative etiology of CUCI. Methods: The study included 88 patients (82.0±5.7 y) with newly detected CUCI during hospitalization in a geriatric unit. Twenty-seven (31%) of the patients were diagnosed with delirium during their current hospital stay, which, however, at time of enrollment was in remission so that delirium was not considered the primary cause of the CUCI. Cases were categorized as neurodegenerative or non-neurodegenerative etiology based on visual inspection of FDG PET. The diagnosis at clinical follow-up after ≥12 months served as ground truth to evaluate the diagnostic performance of FDG PET. Results: FDG PET was categorized as neurodegenerative in 51 (58%) of the patients. Follow-up after 16±3 months was obtained in 68 (77%) of the patients. The clinical follow-up diagnosis confirmed the FDG PET-based categorization in 60 patients (88%, 4 false negative and 4 false positive cases with respect to detection of neurodegeneration). The fraction of correct PET-based categorization did not differ between patients with delirium in remission and patients without delirium (86% versus 89%, p = 0.666). Conclusion: Brain FDG PET is useful for the etiological diagnosis of CUCI in hospitalized geriatric patients, as well as in patients with delirium in remission.

Automatic Remote Monitoring of Implantable Cardiac Devices in Clinical Practice – The Lumos-T Safely Reduces Routine Office Device Follow-up (TRUST) Trial

2010 ◽  
Vol 6 (3) ◽  
pp. 87
Author(s):  
Niraj Varma ◽  
Keyword(s):  
Clinical Practice ◽  
Remote Monitoring ◽  
Home Monitoring ◽  
Implantable Devices ◽  
Cardiac Device ◽  
Cardiac Devices ◽  
Enhance Patient Safety ◽  
Implantable Cardiac Devices ◽  
Post Implantation

The use of implantable electronic cardiac devices is increasing. Post-implantation follow-up is important for monitoring both device function and patient condition; however, clinical practice is inconsistent. For example, implantable cardioverter–defibrillator follow-up schedules vary from every three months to yearly according to facility and physician preference and the availability of resources. Importantly, no surveillance occurs between follow-up visits. By contrast, implantable devices with automatic remote monitoring capability provide a means for performing constant surveillance, with the ability to identify salient problems rapidly. The Lumos-T Reduces Routine Office Device Follow-up Study (TRUST) demonstrated that remote home monitoring reduced clinic burden and allowed early detection of patient and/or system problems, enabling efficient monitoring and an opportunity to enhance patient safety. The results of the trial have significant implications for the management of patients receiving all forms of implantable electronic cardiac device.

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