Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme®

2009 ◽  
pp. 39-46 ◽  
Author(s):  
Samuel Ignacio Pascual Pascual
Keyword(s):  
Pompe Disease ◽  
Early Onset ◽  
Disease Diagnosis ◽  
Diagnosis And Treatment ◽  
Treatment Results

Síndrome da Anca de Ressalto

2018 ◽  
Vol 9 (1) ◽  
pp. 8
Author(s):  
Bernardo Almeida
Keyword(s):  
Surgical Treatment ◽  
Hip Joint ◽  
Scientific Literature ◽  
Therapeutic Targets ◽  
Clinical History ◽  
Disease Diagnosis ◽  
Diagnosis And Treatment ◽  
Snapping Hip ◽  
Predominant Symptom ◽  
Snapping Hip Syndrome

Snapping hip syndrome is a condition in which the predominant symptom is the snapping feelingaround the hip joint caused by a dynamic impingement between muscles or tendons and boneprominences. The etiology of the snapping hip types and consequently the therapeutic targets havebeen subjects of discussion and controversy along the years. A careful clinical history and physicalexamination is frequently enough for this disease diagnosis. Treatment is typically conservative,however when it is not successful surgical treatment is indicated, consisting on the snapping muscleor tendons lengthening. The authors review in this paper the current scientific literature about functionalanatomy, physiopathology, symptoms, diagnosis and treatment of snapping hip.

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer’s Disease

2020 ◽  
Vol 17 (5) ◽  
pp. 438-445
Author(s):  
Van Giau Vo ◽  
Jung-Min Pyun ◽  
Eva Bagyinszky ◽  
Seong S.A. An ◽  
Sang Y. Kim
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Temporal Lobe ◽  
Early Onset ◽  
Parietal Lobe ◽  
Disease Diagnosis ◽  
Random Coil ◽  
Magnetic Resonance Imaging Scan ◽  
Preclinical Ad ◽  
Early Onset Alzheimer’S Disease

Background: Presenilin 1 (PSEN1) was suggested as the most common causative gene of early onset Alzheimer’s Disease (AD). Methods: Patient who presented progressive memory decline in her 40s was enrolled in this study. A broad battery of neuropsychological tests and neuroimaging was applied to make the diagnosis. Genetic tests were performed in the patient to evaluate possible mutations using whole exome sequencing. The pathogenic nature of missense mutation and its 3D protein structure prediction were performed by in silico prediction programs. Results: A pathogenic mutation in PSEN1 (NM_000021.3: c.1027T>C p.Ala285Val), which was found in a Korean EOAD patient. Magnetic resonance imaging scan showed mild left temporal lobe atrophy. Hypometabolism appeared through 18F-fludeoxyglucose Positron Emission Tomography (FDG-PET) scanning in bilateral temporal and parietal lobe, and 18F-Florbetaben-PET (FBB-PET) showed increased amyloid deposition in bilateral frontal, parietal, temporal lobe and hence presumed preclinical AD. Protein modeling showed that the p.Ala285Val is located in the random coil region and could result in extra stress in this region, resulting in the replacement of an alanine residue with a valine. This prediction was confirmed previous in vitro studies that the p.Trp165Cys resulted in an elevated Aβ42/Aβ40 ratio in both COS-1 and HEK293 cell lines compared that of wild-type control. Conclusion: Together, the clinical characteristics and the effect of the mutation would facilitate our understanding of PSEN1 in AD pathogenesis for the disease diagnosis and treatment. Future in vivo study is needed to evaluate the role of PSEN1 p.Ala285Val mutation in AD progression.

Case Series With Late-Onset Psychosis Hospitalized in a Geriatric Psychiatry Unit in Turkey: Experience in 9 Years

2003 ◽  
Vol 15 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Yesne Alici-Evcimen ◽  
Turan Ertan ◽  
Engin Eker
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Case Series ◽  
Geriatric Psychiatry ◽  
Delusional Disorder ◽  
Early Onset Schizophrenia ◽  
Treatment Results ◽  
Thought Insertion ◽  
Psychiatry Department ◽  
Paranoid Psychosis

In this article we report the first series of Turkish inpatients with late-onset psychosis, and describe our 9-year experience at the only inpatient geriatric psychiatry department in Turkey. Among 420 patients hospitalized between 1993 and 2002, 27 were psychotic. In this group, eight patients were diagnosed as having late-onset schizophrenia (LOS) and six very-late-onset schizophrenia-like psychosis (VLOSLP). Five patients had early-onset schizophrenia and eight had delusional disorder. Females were more frequently seen in the group with LOS and the group with VLOSLP. Except for one patient with LOS, all patients with VLOSLP and LOS had paranoid psychosis. Nihilistic delusions, delusions of poverty or guilt, thought withdrawal, thought insertion, and thought broadcasting were not seen in any of the patients. Additionally, none of the LOS or VLOSLP patients showed erotomanic delusions. Grandiose and mystic delusions were not seen in those with VLOSLP. Treatment results and antipsychotic dosages at discharge were similar to those in previous reports from other cultures.

scholarly journals Availability and Use of Mobile Health Technology for Disease Diagnosis and Treatment Support by Health Workers in the Ashanti Region of Ghana: A Cross-Sectional Survey

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1233
Author(s):  
Ernest Osei ◽  
Kwasi Agyei ◽  
Boikhutso Tlou ◽  
Tivani P. Mashamba-Thompson
Keyword(s):  
Healthcare Professionals ◽  
Healthcare Delivery ◽  
Disease Diagnosis ◽  
Text Messages ◽  
Diagnosis And Treatment ◽  
Cross Sectional Survey ◽  
Mobile Wireless ◽  
Ashanti Region ◽  
Phone Calls ◽  
Treatment Support

Mobile health (mHealth) technologies have been identified as promising strategies for improving access to healthcare delivery and patient outcomes. However, the extent of availability and use of mHealth among healthcare professionals in Ghana is not known. The study’s main objective was to examine the availability and use of mHealth for disease diagnosis and treatment support by healthcare professionals in the Ashanti Region of Ghana. A cross-sectional survey was carried out among 285 healthcare professionals across 100 primary healthcare clinics in the Ashanti Region with an adopted survey tool. We obtained data on the participants’ background, available health infrastructure, healthcare workforce competency, ownership of a mobile wireless device, usefulness of mHealth, ease of use of mHealth, user satisfaction, and behavioural intention to use mHealth. Descriptive statistics were conducted to characterise healthcare professionals’ demographics and clinical features. Multivariate logistic regression analysis was performed to explore the influence of the demographic factors on the availability and use of mHealth for disease diagnosis and treatment support. STATA version 15 was used to complete all the statistical analyses. Out of the 285 healthcare professionals, 64.91% indicated that mHealth is available to them, while 35.08% have no access to mHealth. Of the 185 healthcare professionals who have access to mHealth, 98.4% are currently using mHealth to support healthcare delivery. Logistic regression model analysis significantly (p < 0.05) identified that factors such as the availability of mobile wireless devices, phone calls, text messages, and mobile apps are associated with HIV, TB, medication adherence, clinic appointments, and others. There is a significant association between the availability of mobile wireless devices, text messages, phone calls, mobile apps, and their use for disease diagnosis and treatment compliance from the chi-square test analysis. The findings demonstrate a low level of mHealth use for disease diagnosis and treatment support by healthcare professionals at rural clinics. We encourage policymakers to promote the implementation of mHealth in rural clinics.

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