scholarly journals The Rising Double Heterozygous Cases of Haemoglobinopathies In Paediatric Population-A Hospital Based Cross Sectional Study

2016 ◽  
Vol 15 (10) ◽  
pp. 33-36
Author(s):  
Vikas Dagar ◽  
Rajesh Kate ◽  
Ashwinkumar Barsagade ◽  
Pradeep Male
2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Mercedes Guilabert ◽  
Alba Martínez-García ◽  
Marina Sala-González ◽  
Olga Solas ◽  
José Joaquín Mira

Abstract Objective To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in Spain involving patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER). A modified version of the PREM IEXPAC [Instrumento para evaluar la Experiencia del Paciente Crónico] instrument was used (IEXPAC-rare-diseases). Scores ranged between 0 (worst experience) and 10 (best experience). Results A total of 261 caregivers (in the case of paediatric population) and patients with rare diseases (response rate 54.4%) replied. 232 (88.9%) were adult patients and 29 (11.1%) caregivers of minor patients. Most males, 227 (87%), with an average age of 38 (SD 13.6) years. The mean time since confirmation of diagnosis was 7.8 (SD 8.0) years. The score in this PREM was 3.5 points out to 10 (95%CI 3.2–3.8, SD 2.0). Caregivers of paediatric patients scored higher, except for coordination of social and healthcare services. Conclusions There are wide and important areas for improvement in the care of patients with rare diseases. This study involves a first assesment of the experience of patients with rare diseases in Spain.


Author(s):  
Gabriel Gijon-Nogueron ◽  
Jesus Montes-Alguacil ◽  
Pilar Alfageme-Garcia ◽  
Jose Antonio Cervera-Marin ◽  
Jose Miguel Morales-Asencio ◽  
...  

2020 ◽  
pp. bjophthalmol-2020-317356
Author(s):  
Kate Elspeth Leahy ◽  
Katelyn MacNeill ◽  
Jeff Locke ◽  
Stephanie Sobey ◽  
Stephen P Kraft ◽  
...  

AimTo grade extraocular motility in the field of action of each extraocular muscle following superotemporal glaucoma drainage device (GDD) implantation in a paediatric population and to investigate which drainage device (Ahmed vs Baerveldt) yields less extraocular motility disturbance.MethodsCross-sectional study of children with a GDD implanted consecutively by a single surgeon who underwent ocular motility examination by two masked orthoptists. Ductions in the cardinal positions were graded. Ocular alignment, visual acuity, binocularity, stereopsis and intraocular pressure were also measured, and patient charts were reviewed.ResultsThirty children each had one eye included. Twenty-one eyes had an Ahmed GDD and 9 had a Baerveldt GDD. Mean time between GDD insertion and ocular motility exam was 68 months in the Ahmed group and 19 months in the Baerveldt group. Exotropia was present in 46% and vertical heterotropia in 46% of children post-GDD insertion. Thirty-three percent of eyes had a moderate or severe limitation of elevation in abduction, 30% of elevation in adduction, 10% of abduction and 10% of adduction. There was a trend towards more eyes in the Ahmed group (62%) having at least a moderate limitation in ocular motility (−2 or worse; scale −1 to −4) compared with the Baerveldt group (22%).ConclusionStrabismus is common in children with GDDs. Our motility and alignment findings are consistent with either a mass effect of the device and bleb and/or scarring beneath the plate in the quadrant of the GDD causing dysmotility, most commonly limitation towards the GDD.


Author(s):  
Lucia Ruiz Tudela ◽  
Maria Angeles Vazquez Lopez ◽  
Iciar Garcia Escobar ◽  
Jose Eugenio Cabrera Sevilla ◽  
Sara Gomez Bueno ◽  
...  

Objective: To determine blood lead levels (BLL) in a healthy paediatric population and to analyse related sociodemographic, dietary and haematological factors. Methods: A cross-sectional study was made of 1,427 healthy subjects aged 1-16 years from the city of Almería (south-eastern Spain). BLL, iron parameters and erythropoietin were determined, and sociodemographic and dietary data obtained. The study data were analysed by multiple logistic regression. Results: The mean BLL was 1.98±1.1 µg/dl (95% CI:1.91–2.04). For 5.7% of the population, mean BLL was 2-5 µg/dl, for 2.1% it was >5 µg/dl and for 0.15% it was >10 µg/dl. Multivariate analysis showed that immigrant origin (OR:11.9; p<0.0001), low level of parental education (OR:4.6; p<0.02) and low dietary iron bioavailability (OR: 3.2; p<0.02) were all risk factors for toxic BLL. Subjects with toxic and non-toxic BLL presented similar iron and erythropoiesis-related parameters, except erythrocyte protoporphyrin, which was significantly higher in the BLL >5 µg/dl group. Conclusions: BLL and the prevalence of toxic BLL in healthy subjects aged 1-16 years living in south-eastern Spain are low and similar to those found in other developed countries. The factors associated with toxic BLL are immigrant origin, low level of parental education and dietary iron deficiency. The toxicity of BLL was not related to changes in the analytical parameters studied.


PLoS ONE ◽  
2020 ◽  
Vol 15 (7) ◽  
pp. e0236241
Author(s):  
Emmanuelle Dor-Nedonsel ◽  
Marie-Line Menard ◽  
Arnaud Fernandez ◽  
Charlotte Sakarovitch ◽  
Eric Fontas ◽  
...  

2017 ◽  
Vol 9 (1) ◽  
pp. 37-42
Author(s):  
A Shah ◽  
M Chaudhary ◽  
J K Shrestha

Objective: It is to study the pattern of corneal diseases (including injuries) in paediatric population in a tertiary eye care center. Materials and methods: A descriptive, cross sectional study was carried out in a tertiary eye care center which included 176 cases. Results: Out of 176 cases studied, 6 cases (3.4%) presented with congenital causes, 4 cases (2.27%) were of dystrophy and ectasia, 63 cases (35.79%) had infective origin, 17 cases (9.65%) had inflammatory cause, 9 cases (5.11%) had systemic association and 77 cases (43.75%) had traumatic causes. Conclusion: Trauma was noted to be the most important cause for corneal diseases in paediatric population followed by infective conditions. Viral keratitis was found to be the most common type of corneal infection in the paediatric age group. 


2021 ◽  
Author(s):  
Mercedes Guilabert Mora ◽  
Alba Martínez-García ◽  
Marina Sala-González ◽  
Olga Solas ◽  
José Joaquín Mira

Abstract Objective. To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in Spain involving patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER). A modified version of the PREM IEXPAC [Instrumento para evaluar la Experiencia del Paciente Crónico] instrument was used (IEXPAC-rare-diseases). Scores ranged between 0 (worst experience) and 10 (best experience).Results. A total of 261 caregivers (in the case of paediatric population) and patients with rare diseases (response rate 54.4%) replied. 232 (88.9%) were adult patients and 29 (11.1%) caregivers of minor patients. Most males, 227 (87%), with an average age of 38 (SD 13.6) years. The mean time since confirmation of diagnosis was 7.8 (SD 8.0) years. The score in this PREM was 3.5 points out to 10 (95%CI 3.2-3.8, SD 2.0). Caregivers of paediatric patients scored higher, except for coordination of social and healthcare services.Conclusions. There are wide and important areas for improvement in the care of patients with rare diseases. This study involves a first assesment of the experience of patients with rare diseases in Spain.


2020 ◽  
Author(s):  
Mercedes Guilabert Mora ◽  
Alba Martínez-García ◽  
Marina Sala-González ◽  
Olga Solas ◽  
José Joaquín Mira

Abstract Objective To measure the experience of the person suffering from a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in Spain involving patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER). A modified version of the PREM IEXPAC instrument was used (IEXPAC-rare-diseases). Scores ranged between 0 (worst experience) and 10 (best experience).Results A total of 261 caregivers (in the case of paediatric population) and patients with rare diseases (response rate 54.4%) replied. Most males, 227 (87%), with an average age of 38 (SD 13.6) years. The mean time since confirmation of diagnosis was 7.8 (SD 8.0) years. The score in this PREM was 3.5 points out to 10 (95%CI 3.2-3.8, SD 2.0). Caregivers of paediatric patients scored higher, except for coordination of social and healthcare services.Conclusions There are wide and important areas for improvement in the care of patients with rare diseases. This study involves a first assesment of the experience of patients with rare diseases in Spain.


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