Genetic study of Alport syndrome in Tunisia.

BACKGROUND: Alport syndrome is a genetic disorder affecting the kidneys, ears, and eyes, causing chronic kidney disease, sensorineural hearing loss, and ocular abnormalities. It results from pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes, with different inheritance patterns: X-linked from COL4A5 variants, autosomal recessive from homozygous variants in COL4A3 or COL4A4, digenic from variants in both COL4A3 and COL4A4, and autosomal dominant from heterozygous variants in COL4A3 or COL4A4. METHODS: We analyzed 45 patients with Alport syndrome from 11 Tunisian families to determine their clinical and genetic characteristics. Clinical data were collected retrospectively, and whole-exome sequencing was conducted on one patient from each family. Sanger sequencing validated pathogenic variants, and cascade screening extended the analysis to 53 individuals. RESULTS: We identified nine likely pathogenic variants among 11 index cases: six novel and three known variations. Of these, five were in COL4A3, and four were in COL4A5, with variants including frameshift, nonsense, missense, and alternative splicing. Most variations affected the Gly-XY codon. Among the 45 clinically identified siblings, 30 tested positive for Alport syndrome. The cascade screening identified 3 additional affected individuals, 10 unaffected siblings, and 10 unaffected parents. The mode of inheritance was autosomal recessive in six families and X-linked in four families. CONCLUSIONS: This study is the first to screen the mutational spectrum of Alport syndrome in Tunisia. It reveals novel pathogenic variants and suggests that autosomal recessive inheritance may be more common in the Tunisian population than X-linked inheritance, contrary to existing literature.

Exploring Damage Patterns in CFRP Reinforcements: Insights from Simulation and Experimentation.

Carbon Fiber Reinforced Polymers (CFRP) have become increasingly significant in real-world applications due to their superior strength-to-weight ratio, corrosion resistance, and high stiffness. These properties make CFRP an ideal material for reinforcing concrete structures, particularly in scenarios where weight reduction is crucial, such as in bridges and high-rise buildings. The transformative potential of CFRP lies in its ability to enhance the durability and load-bearing capacity of concrete structures while minimizing maintenance costs and extending the lifespan of the infrastructure. This research explores the impact of reinforcing structural elements with advanced composite materials on the strength and durability of concrete and reinforced concrete structures. By integrating Carbon Fiber Reinforced Polymer (CFRP) reinforcements, we subjected both rectangular and T-section concrete beams to comprehensive three-point bending tests, revealing a substantial increase in flexural strength by 45% and crack resistance due to CFRP reinforcement. The study revealed that CFRP reinforcement increased the flexural strength of concrete beams by 45% and improved crack resistance significantly. Additionally, the load-bearing capacity of the beams was enhanced by 40% compared to unreinforced specimens. These improvements were validated through finite element simulations, which showed a close alignment with the experimental data. Furthermore, an innovative simulation study was conducted using a finely tuned finite element numerical model within the Abaqus calculation code. This model accurately replicated the laboratory specimens in terms of shape, dimensions, and loading conditions. The simulation results not only validated the experimental observations but also provided deeper insights into the stress distribution and failure mechanisms of the reinforced beams. Novel aspects of this study include the identification of specific failure patterns unique to CFRP-reinforced beams and the introduction of an enhanced interaction model that more accurately reflects the composite behavior under load. In CFRP-reinforced beams, specific failure patterns were identified, including flexural cracks in the tension zone and debonding of the CFRP sheets. These patterns indicate the points of maximum stress concentration and potential weaknesses in the reinforcement strategy. The study revealed that while CFRP significantly improves the overall strength and stiffness, careful attention must be given to the bonding process and the quality of the adhesive used to ensure optimal performance. These findings contribute significantly to the understanding of material interactions and structural performance, offering new pathways for the design and optimization of composite-reinforced concrete structures. This research underscores the transformative potential of composite materials in elevating the structural integrity and longevity of concrete infrastructures.

Seborrheic Keratosis: Report of a Rare Presentation and Reminder of the Current Knowledge of the Problem.

A 75-year-old man presented with an abdominal enlarging painless tumor of the skin evolving over the last 30 years. His past medical history was unremarkable. Physical examination revealed a brownish pedunculated cutaneous mass which had an irregular keratotic warty surface with no discharge or ulceration. The mass was clinically presumed to be a melanocytic tumor, or a verrucous carcinoma. A monoblock excision of the mass was performed with a good outcome. The specimen was then sent to our pathology department to rule out malignancy. Macroscopic examination revealed a brownish tumor of 7.5 × 7 × 1.5 cm which had fissures and cauliflower-like appearance. Final histological report concluded to a giant seborrheic keratosis.

The Tunnelled Atrial Catheter: A Promising Solution for Vascular Capital Depletion in Dialysis despite Associated Thrombi.

Introduction: Longer survival in dialysis led to a higher incidence of vascular access complications and failure. With the limited access to kidney transplantation programs and peritoneal dialysis, exhaustion of vascular access for hemodialysis is an increasingly common situation. Among the available options, atrial tunneled dialysis catheter (ATDC) has been reported as an effective vascular access in this population. Methodology. We report the experiences of two nephrology centers in Tunis with ATDC as an ultimate vascular access for dialysis. Case Reports. Two patients with exhausted vasculature underwent ATDC insertion in 2020 and 2022, respectively, as a vascular access of last resort. Both patients underwent CRBI, which resolved with favorable outcomes. One case was complicated by post-operative thrombosis and was successfully treated with thrombolysis. Both patients are currently on dialysis via their ATDC with a catheter patency of 29 months. Conclusion: ATDC is a life-saving and safe vascular access in cases of depleted vasculature. Little more than 50 cases have been reported in the literature during the last 30 years. As the frequency of vasculature exhaustion is expected to increase, preservation of veinous access in patients at risk of chronic kidney disease have never been more crucial.

Comparison between stapled hemorrhoidopexy and harmonic scalpel hemorrhoidectomy in the management of third- and fourth-degree piles: a randomized clinical trial.

BACKGROUND: This study compared the results of stapled hemorrhoidopexy (SH) and harmonic scalpel hemorrhoidectomy (HSH) in the management of grade III and grade IV piles regarding the time of the procedure, postoperative pain, patient satisfaction, wound infection, bleeding, incontinence, and recurrence within 1 year. PATIENTS AND METHODS: This was a single-blind, prospective, randomized, controlled, single-center trial conducted from January to December 2022 that included 50 (68.75%) male and 20 (31.25%) female patients with third- and fourth-degree piles. RESULTS: The patients were divided into two groups of 35 patients each. Group I underwent SH and group II underwent HSH. The mean age of group I was 42.94 years and of group II, 42.20 years. The mean time of the procedure was 24.42 min ± 2.367 for SH and 31.48 min ± 2.21 for HSH. Postoperative pain in group I was lower than in group II during the first 2 weeks, but there was persistent mild pain in most patients in group I at the 2­week follow-up. In group II there was significant improvement in pain after 2 weeks, with higher patient satisfaction. Wound infection was detected in 3 (5%) patients in group I and no patients in group II (p = 0.077). Postoperative bleeding occurred in 4 (11.4%) patients in group I in the form of spotting after defecation only during the first postoperative month; no bleeding was detected in group II (p = 0.039). There were 3 (15%) cases of flatus incontinence but after taking a detailed history these were found to be cases of urgency to defecate rather than incontinence. There were 7 (20%) cases of recurrence at the 1­year follow-up in group I and 1 (2.9%) case in group II (p = 0.024). CONCLUSION: Compared with SH, HSH was safer, easier, and associated with a lower incidence of recurrence after 1 year and with higher patient satisfaction.

Focal Segmental Glomerulosclerosis and Hyalinosis in a Patient with Spondyloarthritis: A Rare Renal Involvement Case Report.

Background: During its course, spondyloarthritis (SpA) may be associated with extra-articular manifestations affecting several organs. Renal involvement is one of the most common extra-articular manifestations and is dominated by secondary amyloidosis (AA), immunoglobulin A (IgA) nephropathy, and urolithiasis. Other nephropathies such as Focal segmental glomerulosclerosis and hyalinosis (FSGS) are less common and are limited to few case reports. Case: We report the case of a patient followed for axial SpA, who consulted, after being lost to follow-up for 3 years, for elevated blood pressure and edema of both lower limbs associated with an hydrocele and bilateral pleural effusion. Biological examinations showed hypoproteinemia, hypoalbuminemia, and proteinuria. In this context of nephrotic syndrome, the diagnosis of FSGS was confirmed by renal biopsy. Furthermore, the etiological investigation ruled out the causes of secondary FSGS. Conclusion: Renal involvement is a sign of severity in SpA. Its detection and management should be part of the overall management of SpA.

Cholesterol Granuloma of the Breast Mimicking Cancer: A Case Report and Review of the Literature.

Cholesterol granuloma of the breast is an infrequent benign lesion with clinical and radiological findings suggestive of cancer. Herein, we present the case of a 52-year-old woman with no significant past medical history, who presented to the outpatient department for her routine breast screening. Physical examination revealed a painless palpable nodule in the upper external quadrant of the left breast, measuring 0.7 cm. On imaging, the mass met the criteria for Breast Imaging Reporting and Data System (BI-RADS) category 4B. Subsequently, a core needle biopsy of the mass was performed. Despite the alarming radiologic features, microscopic findings were consistent with breast cholesterol granuloma.

Lack of SARS-CoV-2 in environmental samples collected from September 2020-February 2021 in a university that followed CDC reopening guidance.

This study aimed to provide environmental surveillance data for evaluating the risk of acquiring SARS-CoV-2 in public areas with high foot traffic in a university. Air and surface samples were collected at a university that had the second highest number of COVID-19 cases among public higher education institutions in the U.S. during Fall 2020. A total of 60 samples were collected in 16 sampling events performed during Fall 2020 and Spring 2021. Nearly 9800 students traversed the sites during the study period. SARS-CoV-2 was not detected in any air or surface samples. The university followed CDC guidance, including COVID-19 testing, case investigations, and contact tracing. Students, faculty, and staff were asked to maintain physical distancing and wear face coverings. Although COVID-19 cases were relatively high at the university, the possibility of acquiring SARS-CoV-2 infections at the sites tested was low.

Multiple hydatid cyst disease revealed by an expansive intracranial process: A case report.

Hydatid disease is a real public health problem in developing countries. Cerebral localization is rare; it does not exceed 2%. It is more frequent in children and adolescents. It is often primary in children. In adults, it is less frequent and generally associated with other localizations. We report the case of a 60-year-old Tunisian patient with pulmonary, hepatic and cerebral hydatid cyst, revealed by neurological symptoms with an expansive intracranial process on brain imaging.

Cribriform-morular thyroid carcinoma: A case report with review of the literature.

Cribriform-morular thyroid carcinoma (CM-TC) is a rare entity that usually occurs in association with familial adenomatous polyposis (FAP) but may be sporadic. Herein, we present a new case of cribriform-morular thyroid carcinoma occurring in a 28-year-old woman with no history of FAP.

Recurrence with lymph node and brain metastasis of an oncocytic carcinoma of the submandibular gland: A case report.

Oncocytic carcinomas of the salivary glands are rare. The submandibular gland is a rare location. It is usually associated with a poor prognosis and recurrence after treatment. We report a case of a 52-year-old man with a lymph node and brain metastasis recurrence of an oncocytic carcinoma of the submandibular gland.

[Unusual localizations of subcutaneous lipomas: case report]. / Des localisations inhabituelles des lipomes sous cutanés: rapport de cas.

Subcutaneous lipomas are very common tumors preferentially occurring in the neck and trunk. Although rare and unusual, they can occur in other parts of the body. Then they should be suspected in patients with subcutaneous swellings. We here report 3 cases of lipomas occurring in rare sites, detailing diagnosis and treatment. They occurred in the interdigital web space of the hand, toe and lateral canthus of the eye.

Extra-gastrointestinal stromal tumor of the pancreas: A case report.

INTRODUCTION: Gastrointestinal stromal tumors (GIST) represent the most common mesenchymal tumors of the gastrointestinal tract. In rare cases, these tumors do not develop in the gastrointestinal tract and are defined as extra-gastro-intestinal stromal tumors (EGISTs). Pancreatic EGIST is extremely rare. We reported a case of EGIST of the pancreas in a 53-year-old patient. PRESENTATION OF CASE: A 53-year-old man presented with chronic epigastralgia. An enhanced CT scan showed a solido-cystic tumor of the pancreatic body-tail. The patient underwent a laparotomy. Cytology fine needle aspiration did not find any tumor cells. Enucleation was performed. Histopathology and immunohistochemical examination confirmed the diagnosis of EGIST (CD117 +, Dog-1 +) with a high risk of malignancy. The patient received adjuvant therapy. There was no evidence of disease recurrence after 8 months of follow-up. CLINICAL DISCUSSION: We reported a rare case of a pancreatic EGIST. Enucleation was performed permitting to avoid distal pancreatectomy and thus decreasing morbidity rates. The clinical presentation is not specific and it depends on the location and the size of the tumor. CT scan shows hypervascular tumors with no regional lymph nodes metastasis but is not accurate in assessing diagnosis. Whenever possible, enucleation should be performed. This tumor should be considered in the differential diagnoses of pancreatic neoplasms. CONCLUSION: Pancreatic stromal tumor is extremely rare. There are no specific clinical and radiologic findings. A careful decision should be made after a discussion in a multidisciplinary coordination meeting. Surgical resection is the cornerstone of the treatment. Whenever possible, enucleation is sufficient.

Readmissions to kidney transplantation department: incidence, causes and risk factors.

Introduction: hospital readmission after kidney transplantation is an important metric for health care quality, which associated with increased morbidity, costs and transition-of-care errors. It is influenced by population demographics and the comprehensiveness of the healthcare system. The aim of this study was to evaluate incidence causes and risk factors associated with hospital readmission within the first year after transplantation. Methods: all patients undergoing kidney transplantation at a single center over a ten-year period were analyzed via retrospective chart review. A multivariable logistic regression analysis was performed to identify associated factors. Results: in 86 patients, the incidence of unplanned readmissions within the first year was 68.6% (n = 59). The main reasons for HR were infection (33%), renal events (32%), surgical complications (16%), and metabolic disturbances (9%). In univariate analyses, hospital readmission was associated with Dyslipidemia p=0.04; OR=2.6; 95% CI= [1.93-13.17], anemia p=0.011; OR=4.5; 95% CI = [1.33-15.6], hemodialysis p=0,012; OR=4.8 ; 95% CI= [1.3-18.5], new onset diabetes after transplantation p=0.05 ; OR=3.5 ; 95% CI= [1.6-13,80], medical history of cardiomyopathy p=0,016 ; OR=6.4 ; 95% CI = [5.4-7.5]. While independent risk factors were: hemodialysis vintage and cardiomyopathy. There was no difference in one-year patient survival and death-censored graft survival in HR group and non-HR group. Conclusion: hospital readmissions severely affect a patient's physical and mental well-being after kidney transplantation, which is also independently associated with morbidity. Our study showed that risk factors associated with hospital readmission often reflect pretransplant comorbidity.

Applicability of the commonly used risk scores for coronary bypass surgery in Algeria.

Objectives: The applicability of European system for cardiac operative risk evaluation II (EuroSCORE II) and the Society of Thoracic Surgeons Predicted Risk Of Mortality (STS-PROM) as well as the initial logistic Parsonnet risk score, who have been developed from European and American datasets, is questionable outside these regions. We aimed to assess the performance of these three risk scores for patients undergoing isolated coronary artery bypass grafting (CABG) in Algeria. Methods: Between June 2014 and June 2016, data from 235 consecutive patients, who underwent isolated CABG at a reference center in Algiers, were prospectively collected and scored according to the EuroSCORE II, STS-PROM and the Parsonnet score. Their discriminative power was evaluated by the area under the receiver operating characteristic curve (AUC) while their calibration was tested by the Hosmer-Lemeshow goodness-of-fit test. Results: The mean patient age was 59.08 years and 18.3% were female. The mortality at 30 days was 3.40%. The mortality expected by EuroSCORE II, STS-PROM and by Parsonnet risk score was: 1.33%, 0.78% and 3.35%, respectively. Discriminatory ability was fair for the Parsonnet risk score, good for the STS PROM and excellent for EuroSCORE II (AUCs = 0.737, 0.788, and 0.892, respectively). Regarding calibration, EuroSCORE II and STS-PROM under estimated observed mortality (Hosmer-Lemeshow test: P< 0.001 for both scores), while the Parsonnet risk score was well calibrated (Hosmer-Lemeshow test: p = 0.395). Conclusions: EuroSCORE II and STS-PROM had excellent and good discriminating power, respectively, but both underestimated the risk of 30 days mortality following isolated CABG at a reference center in Algiers. The Parsonnet risk score was well calibrated but was moderately discriminating. The development of a local risk score or the recalibration of recent international risk scores is necessary.

Discovery of 3-(2-aminoethyl)-thiazolidine-2,4-diones as a novel chemotype of sigma-1 receptor ligands.

Sigma receptor is a transmembrane non-GPCR protein expressed mainly in the endoplasmic reticulum membrane associated with mitochondria. It is classified into two types: Sigma-1 (S1R) and Sigma-2 (S2R) based on their biological functions. S1R has been implicated in many neurological disorders such as anxiety, schizophrenia, and depression. Therefore, S1R ligands possess a variety of potential clinical applications with a great interest in the treatment of neuropathic pain. In this study, we report the discovery of a novel lead compound for S1R binding, based on the thiazolidine-2,4-dione nucleus. We have explored hydrophobic groups of different sizes on both sides of the five-membered ring scaffold guided by the crystal structure of S1R. Six compounds showed more than 50% displacement of the radioligand at 10 µM concentration with compound 6c resulting in 100% displacement and a Ki of 95.5 nM. Moreover, compounds 6c and 6e showed a significant selectivity over S2R. In addition, molecular docking predicted that all the compounds showed the critical salt bridge with Glu172 with variable degrees of π-stacking interaction with Tyr103. Upon optimization, this series of compounds could represent potential clinically useful S1R ligands for pain management.

Environmental Surveillance for SARS-CoV-2 in Two Restaurants from a Mid-scale City that Followed U.S. CDC Reopening Guidance.

Since mask use and physical distancing are difficult to maintain when people dine indoors, restaurants are perceived as high risk for acquiring COVID-19. The air and environmental surfaces in two restaurants in a mid-scale city located in north central Florida that followed the Centers for Disease Control and Prevention (CDC) reopening guidance were sampled three times from July 2020 to February 2021. Sixteen air samples were collected for 2 hours using air samplers, and 20 surface samples by using moistened swabs. The samples were analyzed by real-time reverse transcriptase-polymerase chain reaction (RT-PCR) for the presence of SARS-CoV-2 genomic RNA. A total of ~550 patrons dined in the restaurants during our samplings. SARS-CoV-2 genomic RNA was not detected in any of the air samples. One of the 20 surface samples (5%) was positive. That sample had been collected from a plastic tablecloth immediately after guests left the restaurant. Virus was not isolated in cell cultures inoculated with aliquots of the RT-PCR-positive sample. The likelihood that patrons and staff acquire SARS-CoV-2 infections may be low in restaurants in a mid-scale city that adopt CDC restaurant reopening guidelines, such as operation at 50% capacity so that tables can be spaced at least 6 feet apart, establishment of adequate mechanical ventilation, use of a face covering except while eating or drinking, and implementation of disinfection measures.

Aniseikonia and visual functions with optical correction and after refractive surgery in axial anisometropia.

PURPOSE: To evaluate differences in the subjective aniseikonia and stereoacuity in patients with axial anisometropia after full correction of the refractive error with spectacles, contact lenses, and refractive surgery. METHODS: A prospective study was performed in Cairo University Hospitals on 20 patients with axial anisometropia caused by unilateral myopia > 5 D with > 4 D inter-ocular difference in spherical equivalent who were suitable candidates for excimer laser ablation (LASIK) or implantable collamer lens implantation (ICL). All patients had measurement of best-corrected visual acuity (BCVA), fusion, stereoacuity, and magnitude of aniseikonia with spectacles, contact lenses, and after surgery. RESULTS: The mean age at time of surgery was 25.7 ± 3.1 years. There were no statistically significant differences in the BCVA or stereoacuity with spectacles, contact lenses, or after refractive surgery. Microkonia < 5%) was perceived with spectacles in 8 patients (40%) and remained unchanged in 7 of these 8 patients with contact lenses. Following LASIK (n = 11), there was an induced macrokonia < 2% in 4 patients (36%), persistent microkonia of 3% in 1 patient (9%), and no change in image size in 6 (55%) patients. Following ICL implantation (n = 9), there was a perceived macrokonia of 2% in 4 patients (44%), disappearance of microkonia in 1 patient (11%) and no change in 4 patients (44%). CONCLUSIONS: Differences in BCVA, stereoacuity, and aniseikonia after correction of anisometropia by glasses, contact lens and surgery are both clinically and statistically insignificant. Retinal or neural adaptation might have a role in correction for differences in image size.

Colonic tuberculosis: a case report.

Aim: Colonic tuberculosis is rare. It accounts for 2-3% of abdominal tuberculosis. Clinical, radiological and endoscopic features are nonspecific. The diagnosis must be considered in front of chronic abdominal pain, vesperal fever and weight loss with on colonoscopy the presence of nodules or ulcers. The diagnosis is made on pathological findings. Case report: We report a case of an 82-year-old female patient with the diagnosis of colonic tuberculosis. The diagnosis were suspected on clinical presentation: chronic abdominal pain, fever and weight loss. The colonoscopy showed a nodular aspect of the left and sigmoid colonic mucosa and the pathology examination of the multiple biopsy specimens showed an epithelioid and gigantocellular granulomas with caseous necrosis. Conclusion: In front of a nonspecific clinical and endoscopic aspects, multiples colonic biopsies are mandatory to rule out differential diagnosis and confirm colonic tuberculosis.

Clinical and radiological features of colonic tuberculosis are nonspecific. The diagnosis must be considered in case of abdominal chronic pain and general symptoms. The mainly differential diagnosis are colorectal cancer or Crohn's disease. We report a case of an 82-year-old female patient with the diagnosis of colonic tuberculosis.

Bile duct infestation with Enterobius vermicularis diagnosed after cholecystectomy: About two case reports.

Intestinal infestation with Enterobius vermicularis is common, especially in the developing countries. However, its migration in the bile ducts is rare, often diagnosed after cholecystectomy. More investigations are needed to define its involvement in symptoms presented by patients and the likelihood of complications.