A pilot study of home-based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia

Telegenetics has shifted some genetic testing performance to the patient's own home, with the patient collecting his/her own sample. Little is known regarding the rate of test completion of such home-based genetic testing. This study compared the completion rate of home-based genetic tests before and after a reminder system was implemented. In the pre-reminder group, we reviewed medical records for patients who were seen via telegenetics and agreed to complete genetic testing using an at-home test kit. In the reminder group, a prospective analysis of the genetic test completion rate was performed taking a clinical quality improvement approach where three reminders were provided for patients who had not submitted their at-home genetic testing. Our study included 94 patients' records: 46 pre-reminders and 48 reminders. The lab received 24 patient samples (52.2%) in the pre-reminder group. In the reminder group, 30 patients returned their kits (62.5%). Despite a higher percentage of patients completing their test in the reminder group, there was no statistically significant difference between the pre-reminder and reminder groups. The rate of test completion in our pilot test was statistically similar between the two groups, but the reminder group was trending toward a higher percent of completion which may be clinically meaningful.     

Diagnostic and therapeutic advantages of rigid ureteroscopy: retrospective study of 304 cases

Uretroscopy has become a common tool for the diagnosis and management of the upper urinary tract. Between April 1994 and Decembre 1999, 304 ureteroscopy procedures were performed. The most common therapeutic procedure was stone manipulation in 299 cases (distal ureter 259 cases, mid-ureter 23 cases, lumber ureter eight cases and staged in nine cases). Procedure was made by a rigid ureteroscope 8.5 Ch or 11.5 Ch. Dorinia was used in 175 cases (57.5%) with or without fragmentation by ultrasound. Therapeutic ureteroscopy was also used to remove a double-J stent that had migrated into the pelvic ureter in one case and in three cases of ureteral tumor. It was used in one case to confine the extrinsic compression of a ureteral stenosis. Median follow up was 12 months (6-36 months). The overall success rate was 87.6%. Results are comparable in men and women (P = 0.8). Success rate was 90% in single lithiasis and 76.2% in case of numerous stones (P = 0.0094). There was a statistically significant difference in success rate between stones 15 mm or under in size (89% stone-free) and those 15 mm (66% stone-free) or larger. In conclusion, rigid ureteroscopy is a minimally invasive and reliable technique for the management of ureteric calculi and for the diagnosis and treatment of other ureteric lesion.     

Factor Structure of the Urdu Version of the Spence Children's Anxiety Scale in Pakistan

Spence Children's Anxiety Scale (SCAS) is one of the most commonly used self-report questionnaires to measure symptoms of anxiety disorders in adolescents. Despite its common use, studies that examine the psychometric properties of SCAS in Pakistan is lacking. Therefore, the purpose of this study was to examine the psychometric properties of the Urdu translated version of the SCAS among adolescents in Pakistan. A total of 1277 students (708 boys and 569 girls), aged 13 to17 years, who had been recruited from 13 schools in Rawalpindi, Pakistan participated in the study. The mean overall anxiety score was significantly higher in girls than males on all the SCAS subscales except for obsessive compulsive disorder. The internal consistency of the Urdu SCAS was good. Confirmatory factor analyses supported six separate factor structures. Results of the study are discussed with reference to the sociocultural milieu of Pakistan and culture sensitive conceptualization of anxiety and its subtypes.     

Identification of hemoglobin Q India (α 1–64 Asp–His) through ARMS-PCR. First report from Pakistan

Various hemoglobinopathies have been reported from Pakistan excepting the rare ones like hemoglobin Q India. Our purpose of study was to identify the mutation (α 1 64 aspartate to histidine) through amplification restriction mutation system-polymerase chain reaction (ARMS-PCR) in patients where hemoglobin Q has been detected via high performance liquid chromatography (HPLC) and also to evaluate the cost effectiveness of the two technologies. All patients irrespective of age and gender who underwent HPLC for identification of their hemoglobin variant during January 1, 2006 to January 30, 2007 were studied. The blood samples with unknown peak at a retention time of 4.7 min were evaluated at the molecular level. Analysis of HPLC tracings of 11,008 subjects over a thirteen-month period identified ten individuals with hemoglobin Q. Male to female ratio was 1:1.5 and their age was variable ranging from 1 to 49 (mean 22.8) years. The mean hemoglobin level was 11.3 g/dl while MCV (fl) and MCH (pg) were 73.0 and 20.8 respectively. HPLC showed an unknown peak of 17.7% which was detected as Hb Q. ARMS based PCR showed Hb Q specific product of 370 bp and also an amplified product of 766 bp as the control fragment in these samples. This is the first ever report that documents the presence of Hb Q India (α 64 Asp to His) in Pakistani population. We recommend that HPLC be used as a useful screening tool especially in developing countries where PCR facilities may not be accessible.     

Gender differences in estimating I-131 thyroid uptake from Tc-99m thyroid uptake for benign thyroid disease

Objective:For radioactive Iodine-131 (¹³¹I) treatments of thyroid diseases, increased efficacy has been reported for personalized dosimetry treatments. The measurement of Iodine-131 thyroid uptake (¹³¹IU) is required in these cases. This study aims to investigate whether ^99mTc thyroid uptake (^99mTcU) may be used in place of ¹³¹IU for implementing personalised treatments.Methods:A retrospective study of 152 benign thyroid disease ¹³¹I treatments was carried out during 2012–2020; 117 treatments were for female patients while 35 were for male patients diagnosed with either Graves’ disease, multinodular goitre or toxic nodules.Results:A statistically significant correlation was found between ¹³¹IU and ^99mTcU data, with the data more correlated for male than female patients (r = 0.71 vs 0.38, p-value < 0.001). Patient age and time difference between the two respective uptake measurements significantly influenced the uptake correlation in females but not for the male cohort, although there was no significant difference between the parameters across gender. Thyroid diagnosis and hormone levels showed a significant correlation with uptakes in both genders. Estimating ¹³¹IU based on ^99mTcU was shown to be predictive for male but not in female patients (R² = 91% vs 16%).Conclusion:Estimating ¹³¹IU based on ^99mTcU is not recommended for females at our centre. Males reported good correlation, but a larger sample would be needed for validation.Advances in knowledge:The initial findings showed a significant gender difference in benign thyroid uptake parameters at our centre, highlighting the potential need for gender consideration when planning ¹³¹IU patient management and when reporting studies results.     

Gender and Racial Disparity among Addiction Psychiatry Fellows in the United States

Psychiatric Quarterly - The United States (US) has a culturally diverse population. However, the percentage of underrepresented minorities (URMs) and women in healthcare does not fully reflect...     

Detection of Clostridium difficile toxin: comparison of enzyme immunoassay results with results obtained by cytotoxicity assay

Several kinds of laboratory techniques are available to detect Clostridium difficile toxin in fecal samples. Because questions have been raised about the reliability of immunoassays compared to the accepted standard, cytotoxicity assay, we studied three enzyme immunoassays (EIAs) and one rapid EIA, which demonstrated relatively good sensitivities and specificities compared to cytotoxicity assay.