Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

BACKGROUND: Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive way of concurrently screening a large number of PID genes. However, its validity and cost-effectiveness require verification. OBJECTIVES: We sought to identify and overcome complications associated with the use of NGS in a comprehensive gene panel incorporating 162 PID genes. We aimed to ascertain the specificity, sensitivity, and clinical sensitivity of the gene panel and its utility as a diagnostic tool for PIDs. METHODS: A total of 162 PID genes were screened in 261 patients by using the Ion Torrent Proton NGS sequencing platform. Of the 261 patients, 122 had at least 1 known causal mutation at the onset of the study and were used to assess the specificity and sensitivity of the assay. The remaining samples were from unsolved cases that were biased toward more phenotypically and genotypically complicated cases. RESULTS: The assay was able to detect the mutation in 117 (96%) of 122 positive control subjects with known causal mutations. For the unsolved cases, our assay resulted in a molecular genetic diagnosis for 35 of 139 patients. Interestingly, most of these cases represented atypical clinical presentations of known PIDs. CONCLUSIONS: The targeted NGS PID gene panel is a sensitive and cost-effective diagnostic tool that can be used as a first-line molecular assay in patients with PIDs. The assay is an alternative choice to the complex and costly candidate gene approach, particularly for patients with atypical presentation of known PID genes.

Patient and Caregiver Depression in Jordan After a First Stroke.

BACKGROUND: Poststroke depression among patients is well-recognized, while caregiver depression is understudied. The interaction between patient and caregiver depression is also unclear. METHODS: This cross-sectional and follow-up study recruited 108 patient-caregiver dyads after the first-ever stroke. Demographic and clinical data, stroke severity (NIH Stroke Scale score), functional outcome (Barthel Index), and residual disability (modified Rankin Score) were documented. Using the self-reported Patient Health Questionnaire-9, we screened patients and caregivers for depressive symptoms upon admission and after 1 month. Changes in the prevalence and severity of depression were calculated. The Pearson correlation test and logistic regression analysis were conducted to evaluate both the correlation between both groups and significant predictors of depression. RESULTS: In total, 89 patients and 96 caregivers responded to both screenings. Depression was reported by 13.5% and 27.0% of patients on admission and after 1 month, and 9.4% and 18.8% of caregivers, respectively. Caregiver depression on admission was significantly correlated with patient depression on admission (P=0.031). In addition, depression in caregivers after 1 month was a significant predictor of patient depression (P=0.008). Predictors of caregiver depression after 1 month were female caregivers (P=0.026), caring for a male patient (P=0.045), higher mRS scores after 1 month (P=0.013), longer admissions (P=0.017), caregiver between 17 and 35 years of age compared with 54 to 70 years of age (P=0.030), and caring for a patient with poststroke depression at 1 month poststroke (P=0.003). CONCLUSIONS: Both stroke survivors and their caregivers are at high risk for depression, with a potential interaction between depression in the 2 groups.

Occupational hazard in urolithiasis patients in Qatar: A single-center cross-sectional study.

BACKGROUND: Urolithiasis is one of the most prevalent urological diseases and is associated with a substantial economic burden. Its prevalence varies according to geographical location. Qatar is a Middle Eastern country located in the Afro-Asian Stone Belt. It has a dry and hot climate, which may predispose individuals working in these environments to form kidney stones (KSs). METHODS: A population sample of 4204 patients was categorized into five occupational classes. The frequencies and correlations of these occupations with KS formation were calculated. RESULTS: Among the total cases, 2000 presented with KSs, with the majority being of Asian descent (49%), followed by individuals of Middle Eastern descent (35.1%). Technicians accounted for 35.15% of KS cases followed by clerks (29.2%) and executives (14.6%). Among KS cases, 44% had a single stone, 30% had multiple stones, and 26% had two stones. In comparing both KS and non-KS groups, age, gender, occupation, and race were significantly associated with KS formation (p<0.05), while BMI did not show any significant correlation (p>0.05). Asian males aged 31-40, working as technicians, were significantly more prone to urolithiasis. In comparing age, BMI, and gender with stone characteristics, only age was found significantly associated with stone size (p<0.05). Occupation showed an impact on all studied stone characteristics. Clerks and technicians presented more frequently with stones within the 11-15 mm range, while executives more frequently presented with smaller stones (p<0.001). Stone density was more frequently <500 HU in workers, technicians and housewives and >500 HU in executives and clerks (p<0.001). CONCLUSIONS: Our findings revealed an elevated risk of urolithiasis among certain occupational groups, particularly technicians, who frequently work outdoors in high-temperature environments. Alternatively, the sedentary nature of clerical and executive positions can also contribute to the risk of urolithiasis.

Prevalence, Severity, and Predictors of Poststroke Depression in a Prospective Cohort of Jordanian Patients.

Poststroke depression (PSD) is common and remains a significant risk factor for poor outcomes. This prospective study is aimed at assessing the prevalence, severity, and predictors of PSD among Jordanian stroke survivors. A total of 151 patients who were consequently admitted to a tertiary teaching hospital with ischemic or hemorrhagic strokes were enrolled. Participants were screened on admission for premorbid depression using the PHQ-9 questionnaire; then, screening for PSD was repeated one and three months after stroke using the same tool. Depression prevalence at each screening was reported, and logistic regression analysis was conducted to evaluate for significant predictors. PHQ-9 scores suggestive of depression were reported by 15%, 24.83%, and 17.39% of respondents on admission and after one and three months, respectively. Scores suggesting severe depression were reported by 0.71%, 2.13%, and 6.52% of respondents, respectively. Significant predictors of PSD were having chronic kidney disease, current smoking status, moderate or severe disability (mRS score) at stroke onset, and severe dependence (BI) after one month (p values 0.007, 0,002, 0.014, and 0.031, respectively). Patients with secondary and high school education levels were less likely to get depression compared with illiterate patients (p 0.042). This study showed that nearly one in four Jordanian stroke survivors experienced PSD after one month. In contrast, while the overall PSD prevalence declined towards the end of follow-up period, patients who remained depressed showed a tendency towards higher PSD severity.

Spectrum of Causative Pathogens and Resistance Rates to Antibacterial Agents in Bacterial Prostatitis.

OBJECTIVE: To evaluate spectrum and resistance rates to antibacterial agents in causative pathogens of bacterial prostatitis in patients from Southern Europe, the Middle East, and Africa. MATERIALS: 1027 isolates from cultures of urine or expressed prostatic secretion, post-massage urine or seminal fluid, or urethral samples were considered. RESULTS: Escherichia coli (32%) and Enterococcus spp. (21%) were the most common isolates. Other Gram-negative, Gram-positive, and atypical pathogens accounted for 22%, 20%, and 5%, respectively. Resistance was <15% for piperacillin/tazobactam and carbapenems (both Gram-negative and -positive pathogens); <5% for glycopeptides against Gram-positive; 7%, 14%, and 20% for aminoglycosides, fosfomycin, and macrolides against Gram-negative pathogens, respectively; 10% for amoxicillin/clavulanate against Gram-positive pathogens; <20% for cephalosporins and fluoroquinolones against to Gram-negative pathogens (higher against Gram-positive pathogens); none for macrolides against atypical pathogens, but 20% and 27% for fluoroquinolones and tetracyclines. In West Africa, the resistance rates were generally higher, although the highest rates for ampicillin, cephalosporins, and fluoroquinolones were observed in the Gulf area. Lower rates were observed in Southeastern Europe. CONCLUSIONS: Resistance to antibiotics is a health problem requiring local health authorities to combat this phenomenon. Knowledge of the spectrum of pathogens and antibiotic resistance rates is crucial to assess local guidelines for the treatment of prostatitis.

The sclerosing Sertoli cell tumor of the testis is an extremely rare entity.

We present the case of a 31-year-old single male patient, who was admitted through emergency unit with painless hard nodule of his left testis of 6 months' duration. Ultrasound scan of the scrotum showed a fairly well-defined hypo echoic area in the left testicular parenchyma in its middle part, measuring approximately 10 × 9 mm in size. We performed left inguinal radical orchidectomy. Histopathology examination of the left testis revealed sclerosing Sertoli cell tumor (SSCT) of the testis. This is a very rare testicular tumor with very few published case reports. Systemic examination was performed to exclude systemic metastasis. SSCT is characterized by the presence and aggregates of tubules of Sertoli cells, separated by a sclerotic intercellular matrix formed by fibrotic connective tissue.

Is There Any Improvement In Efficacy Of Xtracorporeal Shockwave Lithotripsy Therapy For Treating Renal Stones With Invent Of New Shockwave Machines?

BACKGROUND: Renal stone disease is a very common medical problem in general population. As with invent of newer therapeutic modalities, ESWL is already losing its popularity. But we believe it as an effective way of treating renal stones. This study was conducted to evaluate any improvement in success rate of ESWL therapy for treating renal stones with latest shockwave lithotripsy machines. METHODS: Study conducted from June 2016 until November 2017 in Alkhor hospital, Hamad Medical Corporation, Qatar. All patients undergoing ESWL for renal stones in mentioned period were included. Total 197 patients underwent ESWL using newer machines. Factors already studied to affect the success rate like stone size, location, consistency (measured by Hounsfield units on CT), presence of stent were taken in consideration. After a period of 3 months either complete stone clearance or stone fragments smaller than 4 mm were considered as a treatment success. These results were compared to the results from literature. RESULTS: Patients were followed until 3 months after treatment. 170 patients (86.29%) had complete stone clearance. Eleven patients (5.58%) had residual stone less than 4 mm, thus achieving an overall success of 181 patients (91.88%). 42 patients (21.32%) needed repeat session of ESWL with a maximum number of 3 sessions. 16 patient's (8.12%) required auxiliary procedures like flexible ureteroscopy. Post-ESWL complications were recorded in 12 patients (6.09%). Success rate was affected mainly by stone size with negligible effect of stone location. Presence of stent affected the number of sessions but has no impact on stone clearance.. CONCLUSIONS: Although the stone size and to a negligible extent, the stone location and presence of stent may affect the stone clearance, nevertheless a significant improvement in success rate has been observed by use of new shockwave lithotripsy machines.

Primary localised amyloidosis of the urinary bladder: A recurrent and progressive disease.

Primary amyloidosis results from the deposition of amyloid protein fibrils in the extracellular space and rarely involves the urinary bladder. We present a 41-year-old man who was diagnosed with primary amyloidosis of the urinary bladder and underwent two sessions of transurethral resection of the bladder mass 4 years prior. Recently, the patient was admitted through the emergency with painless frank haematuria. Computed tomography of the abdomen and pelvis revealed a bladder mass that was larger than the previously reported mass. A repeat cystoscopy and resection of the mass was performed. Histopathological examination of the resected tissue revealed primary amyloidosis of the urinary bladder. A comprehensive examination was performed to exclude systemic amyloidosis.

Percutaneous nephrolithotomy in complete supine flank-free position in comparison to prone position: A single-centre experience.

OBJECTIVES: To assess the outcomes of performing percutaneous nephrolithotomy (PCNL) in a modified supine position, more feasible for surgeons, anaesthetists, and operating theatre staff, as well as for the patient himself, and evaluating it in comparison to the standard prone position. PATIENT AND METHODS: A retrospective, case-control study was conducted between January 2011 and December 2015. In all, 197 patient's records were reviewed. The initial 101 patients were operated upon in prone position. From mid-2013, 96 patients were operated upon in a complete supine, flank-free position. The groups were compared in terms of operation time, calculated from positioning the patient after anaesthesia induction, insertion of ureteric catheter, puncture of renal system, until the end of procedure; stone-free rate; hospital stay; and postoperative complications, such as transfusion rate, fever, and urinary leakage. RESULTS: There were two significant differences between the groups. Firstly, the operation time was a mean (SD) 32.3 (6.6) min shorter for the supine versus the prone position (P < 0.001). Secondly, hospital stay was a mean (SD) 1.2 (0.75) days shorter for the supine vs the prone position (P < 0.001). The complete stone clearance rate (85.4% for supine vs 79.2% for prone; P = 0.2) and postoperative complications (7.3% for supine vs 17.8% for prone; P = 0.02) were comparable in both groups. CONCLUSION: Supine PCNL is a feasible procedure with similar outcomes in terms of stone-free rate as well as postoperative complications, to the standard prone PCNL. It reduces unnecessary delay that occurs during change of position resulting in significant shortening of the total operation time and surgeons can perform supine PCNL whilst sitting.

Supine percutaneous nephrolithotomy in horseshoe kidney.

We report a case of a 45-year-old male who presented with recurrent left loin pain of three months' duration. A CT scan of his abdomen and pelvis showed a horseshoe kidney with two stones in the middle and lower calyx of the left kidney, each stone measuring approximately 1.5 cm in size. The patient had a past history of several unsuccessful attempts of extracorporeal shockwave lithotripsy (ESWL) on the same side. We treated the patient successfully by performing a percutaneous nephrolithotomy (PCNL) in the supine position that resulted in complete stone clearance. In addition, we report a shorter procedure time and hospital stay with no perioperative or post-operative complications.

Construction, characterization and immunogenicity of a glycoprotein E negative bovine herpesvirus-1.1 Egyptian strain "Abu-Hammad".

A full glycoprotein E (gE) deletion was generated in genome of the Egyptian BoHV-1.1 Abu-Hammad strain. Integrity of the gE negative (gE(-)) mutant virus was proved by successful specific PCR amplifications of gB, gC, tk, gD, gI and gE genes along with definite immune reaction to polyclonal anti-BoHV-1 antibody in infected cell culture. BoHV-1 gE(-) mutant exhibited growth kinetics inferior to those of the parental virus manifested as lower virus titers with delayed and poorer cytopathic effect in infected cells. Adjuvanted vaccines were made of the gE(-) mutant, live and killed; besides a conventional killed vaccine made of the parental virus and were used to immunize separate groups of calves. After i.m. vaccinations, no virus shedding could be detected in nasal swabs collected from all vaccinates and all calves remained apparently healthy. They all seroconverted to BoHV-1 as was revealed by virus neutralization test and a gB enzyme-linked immunosorbent assay (ELISA). Calves vaccinated with live and killed gE(-) vaccines did not elicit any detectable anti-gE antibody as shown by a blocking gE-ELISA. In conclusion, the constructed BoHV-1.1 gE(-) mutant was proved as safe and immunogenic as a reliable candidate for inclusion in a local marker vaccine.

Delayed presentation of traumatic intraperitoneal rupture of urinary bladder.

Blunt injury of the urinary bladder is well known and usually associates pelvic fractures. Isolated bladder injury is a rare condition and on the other hand, delayed bladder perforation is an extremely rare entity. Herein, we described an unusual case of isolated delayed intraperitoneal bladder rupture that occurred on the third post injury day in a young male in the absence of free intraperitoneal fluid and pelvic fracture. The diagnostic workup, course and the need for surgical repair of the injury is presented.