scholarly journals Hypophosphatasia screening in pediatric age based on records

Author(s):  
Olatz Villate ◽  
Ignacio Díez-Lopez ◽  
Luis Aldamiz-Echevarría ◽  
Fernando Andrade ◽  
Pablo Suarez ◽  
...  

Introduction: hypophosphatasia (HPP) is a congenital disease, characterized by a defect in bone and dentary mineralization, secondary to a deficiency in the biosynthesis of non-specific tissue isoenzyme of alkaline phosphatase (TNSALP), resulting in decreased levels of alkaline phosphatase (ALP) activity and the extracellular accumulation of its substrates. Our goal was to establish the interest of screening the hospital databases of pediatric patients with low levels of ALP for the diagnosis of HPP. Materials and methods: during the period from September 2016 to September 2017, 23231 patients were tested for ALP, 1752 of them showed low levels of ALP. Based on the clinic, basal disease and that in previous analyses they did not present ALT norm values, 14 cases were selected: 8 cases associated with early puberty, 1 case of low size, 1 case of liver disease and myasthenia and 1 case of teething problems. ALPL gene was studied in those cases. Results: the latter case was of an 8-year-old male with a pathological variant of HPP: c.343_348dupACCGCC (p.Thr115_Ala116dup) in exon 5 in dominant heterozygous, inherited from his mother. At the substrate level the levels of pyridoxal-5-phosphate were above 50μg/L. Conclusion: the diagnostic strategy with a high index of clinical suspicion of HPP should include the observation of low levels of serum ALP activity. Our study shows that HPP is an underdiagnosed disease.An appropriate protocol to detect HPP in a clinical setting in tertiary care hospitals is required.

2008 ◽  
Vol 23 (11) ◽  
pp. 1710-1715 ◽  
Author(s):  
Sukriti ◽  
Nirupma Trehan Pati ◽  
Ankur Sethi ◽  
Kireet Agrawal ◽  
Kamal Agrawal ◽  
...  

2018 ◽  
Vol 3 (3) ◽  

To determine the immunization status of pediatric patients under age of 5 years visiting pediatric department of tertiary care hospitals in South East Asia. The aim of this study was to appreciate the awareness and implementation of vaccination in pediatric patients who came into pediatric outpatient Department with presenting complain other than routine vaccination. we can also know the count of patients who do not complete their vaccination after birth. we can differentiate between vaccinated and unvaccinated patients and incidence of severe disease in both groups. Immunization is a protective process which makes a person resistant to the harmful diseases prevailing in the community, typically by vaccine administration either orally or intravenously. It is proven for controlling and eliminating many threatening diseases from the community. WHO report that licensed vaccines are available for the prevention of many infectious diseases. After the implementation of effective immunization the rate of many infectious diseases have declined in many countries of the world. South-East Asia is far behind in the immunization coverage. An estimated total coverage is 56%-88% for a fully immunized child, which is variable between countries. Also the coverage is highest for BCG and lowest for Polio.


2017 ◽  
Vol 11 (3) ◽  
pp. 238-242
Author(s):  
Muhammad Arif Ali ◽  
Ayesha Arif ◽  
Tehreem Fatima ◽  
Muhammad Moaaz Arif

Author(s):  
A. K. Warps ◽  
◽  
M. P. M. de Neree tot Babberich ◽  
E. Dekker ◽  
M. W. J. M. Wouters ◽  
...  

Abstract Purpose Interhospital referral is a consequence of centralization of complex oncological care but might negatively impact waiting time, a quality indicator in the Netherlands. This study aims to evaluate characteristics and waiting times of patients with primary colorectal cancer who are referred between hospitals. Methods Data were extracted from the Dutch ColoRectal Audit (2015-2019). Waiting time between first tumor-positive biopsy until first treatment was compared between subgroups stratified for referral status, disease stage, and type of hospital. Results In total, 46,561 patients were included. Patients treated for colon or rectal cancer in secondary care hospitals were referred in 12.2% and 14.7%, respectively. In tertiary care hospitals, corresponding referral rates were 43.8% and 66.4%. Referred patients in tertiary care hospitals were younger, but had a more advanced disease stage, and underwent more often multivisceral resection and simultaneous metastasectomy than non-referred patients in secondary care hospitals (p<0.001). Referred patients were more often treated within national quality standards for waiting time compared to non-referred patients (p<0.001). For referred patients, longer waiting times prior to MDT were observed compared to non-referred patients within each hospital type, although most time was spent post-MDT. Conclusion A large proportion of colorectal cancer patients that are treated in tertiary care hospitals are referred from another hospital but mostly treated within standards for waiting time. These patients are younger but often have a more advanced disease. This suggests that these patients are willing to travel more but also reflects successful centralization of complex oncological patients in the Netherlands.


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