ABSTRACT
Diagnosis of Biotinidase deficiency (BTD) is extremely important to avoid several neurodevelopmental problems in early childhood. Colorimetric and fluorometric methods lack specificity and selectivity due to several interferences resulting in a high number of false positive results. We developed an HPLC method for BTD activity in serum with fluorescent detection. In colorimetric assays, biotinidase attacks the amide linkage of the artificial substrate biotinidyl-4-aminobenzoic acid (B-PABA) and releases p-aminobenzoic acid (PABA), which is converted to a purple dye by diazotization reaction. The newly developed method injects the reaction mixture directly into the HPLC column and quantifies using a six-point calibration curve without coupling and diazotization reaction. The method is linear over the 5-1000 µmol/L range. The detection and quantitation limits were 2.5 µmol/L and 5.0 µmol/L, respectively. When compared with colorimetric assay, the correlation coefficient (R2) was 0.9963. The within-assay and between-assay precision was <10.0% for four levels of quality control samples. No significant variation in BTD activity was detected due to hemolysis, icteric, and lipemic samples. The newly developed method eliminates the potential interference due to the presence of aromatic amines and significantly reduces the false positive results observed with the colorimetric method. It is simple, specific, sensitive, faster in sample preparation, and requires a small sample volume. The newly developed HPLC method was used in our laboratory as a secondary tier test for initial positive BTD samples from newborn screening programs. To our knowledge, no similar HPLC method has been reported to date.
ABSTRACT
Background Diabetes mellitus imposes a significant psychological and social burden on the affected individuals. The impact of type 1 diabetes mellitus (T1DM) on psychosocial development has not been well investigated in the literature. We aim to fill the aforementioned gap by conducting a comparative study to accurately assess the impact of this chronic disease on psychosocial development among adolescents in Saudi Arabia. Methodology This structured, phone-based, comparative, and cross-sectional study targets adolescents with T1DM and those without diabetes in Jeddah, Saudi Arabia. Our study utilized a validated instrument psychosocial inventory of ego strengths (PIES), to assess the psychosocial development among the participants. An IRB approval has been granted for this study. The data were analyzed using SPSS. The data collection spanned the duration from November 1, 2020, until June 8, 2021. Results A total of 310 individuals were included in the study, 90 of whom were adolescents living with diabetes, and 220 were adolescents not living with diabetes. This study indicates that the individuals with diabetes showed significantly lower development in the Hope and Care subscales compared to the control group. We found no significant correlation between HbA1C levels and scores on the psychosocial development subscales. With regards to comorbidities, adolescents living with T1DM had significantly higher rates than the control group, with asthma being the most frequently reported comorbidity. Conclusion This study in Saudi Arabia found that adolescents living with diabetes demonstrated lower scores in Hope and Care subscales compared to adolescents not living with diabetes. It highlights the importance of healthcare professionals monitoring and addressing the psychosocial needs of T1DM patients through a multidisciplinary approach and referral to specialized support services when necessary. Further research and interventions are needed to promote the psychosocial well-being of individuals with T1DM.
ABSTRACT
Although gastrointestinal stromal tumors (GISTs) are rare tumors, they are the most common tumors of mesenchymal origin of the gastrointestinal tract. GISTs present with nonspecific clinical manifestation and they are discovered incidentally during endoscopic or radiological investigations. Massive life-threatening bleeding that requires urgent surgery is rare. We present a case of small bowel GIST that presented with massive lower gastrointestinal bleeding that required urgent surgical intervention.
ABSTRACT
OBJECTIVE: Australia has the highest incidence of colorectal cancer (CRC) in the world. The incidence of young-onset CRC (yCRC) is increasing in developed nations. Our aim was to determine the incidence of yCRC in New South Wales, the demographic and clinico-pathological characteristics of these patients, and their survival. DESIGN, SETTING, PARTICIPANTS: A population-based cohort study of all cases of CRC diagnosed in NSW during 2001-2008. Data on newly diagnosed cases of CRC were obtained from the NSW Central Cancer Registry; mortality data were obtained from the NSW Registry of Births Deaths and Marriages (to 2012). The characteristics and tumour-related factors of patients under 50 years of age (yCRC) were compared with those for patients aged 50 years or more. MAIN OUTCOME MEASURES: Current incidence of yCRC and trends in incidence; 5-year cancer-specific survival rates and risks of death compared with older patients. RESULTS: 32 178 patients were diagnosed with CRC, including 2001 (6.2%) with yCRC. The incidence of yCRC was unchanged across the study period (2001, 13.7 cases per 100 000 population; 2008, 11.8 per 100 000; P = 0.26). Rectal cancer was more frequent in yCRC than in older patients (34.4% v 26.0%), as was distant disease (21.2% v 15.3%). However, 5-year cancer-specific survival was greater for patients with yCRC (68.8%; 95% CI, 66.2-71.2%) than for older patients (66.3%; 95% CI, 65.6-67.0%; P < 0.001). CONCLUSIONS: The incidence of yCRC did not increase in NSW during 2001-2008. Despite more advanced disease at presentation, cancer-specific survival was better than for older patients with CRC.
