von Willebrand syndrome (AVWS) related tests, such as lymphoproliferative, rheumatism and autoimmune antibody testing, were normal.Further investigation of the cause of AVWS may be of great help.Correlation between FV and VWF has been reported previously.Dayer et al 10 identified that FV might bind to VWF in the same way as FVIII. This result indicates that interaction between FVD and VWD may exist.There were some limitations of this work. Treatment such as oral administration of desmopressin was not performed to confirm the effect of decreased VWF on hematuria.In summary, the F5 c.5492T>C mutation was responsible for congenital FVD, and we are the first to report a rare case of congenital FVD and decreased VWF resulting in hematuria in a Chinese male patient. ACKNOWLEDGEMENTSDL cared for the patient. NT performed the laboratory tests. XW and YL performed the genetic tests.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive inherited platelet disorder occurring frequently in populations with high incidence of consanguineous marriages. GT is characterized by quantitative and/or qualitative defect of the platelet αIIbβ3 (GPIIb/IIIa) receptor caused by pathogenic variants of the encoding genes: ITGA2B and ITGB3. Patients present with a moderate to severe bleeding tendency with normal platelet count. Platelets show reduced/absent aggregation for all agonists except ristocetin in light transmission aggregometry and reduced/absent αIIbβ3 expression in flow cytometry (FC). In this study, we investigated a cohort of 20 Pakistani patients and 2 families collected from the National Institute of Blood Disease, Karachi and Chughtai’s Lab, Lahore. Platelet aggregation studies, FC (platelet CD41, CD61, CD42a, CD42b) and direct sequencing of the candidate genes were performed. All patients showed altered platelet aggregation, but normal agglutination after stimulation with ristocetin. Absent/reduced αIIbβ3 receptor expression was present in the platelets of 16 patients, in 4 patients expression was borderline/normal. Candidate gene sequencing identified pathogenic/likely pathogenic variants in 15 patients. Seven variants are novel. One patient with absent receptor expression remained without genetic finding. 13 (86.7%) of 15 patients stated consanguinity reflected by homozygosity finding in 14 (93.3%) patients.

Introduction: Testicular biopsy is an invasive diagnostic tool to evaluate spermatogenesis and has to be performed only following strict criteria. Objective: To compare open testicular biopsy and testicular fine needle aspiration (TEFNA) for spermatogenesis in terms of Johnsen’s scoring in patients with suspicion of obstructive azoospermia. Materials and Methods: This comparative study was conducted in Pathology department, Ghulam Mohammad Mahar Medical college, Sukkurduring 2021 to 2022. Detailed history was taken and physical examination was carried out including examination of external genitalia. Amongst them, men with normal testicular size and bilaterally palpable vas deference were investigated further regarding their hormone profile (FSH, LH, and Testosterone) and scrotal color doppler ultrasound (CDUS). Procedure was performed under local anesthesia (Spermatic cord block). Results: The mean age of patients in our study was 38.9±6.4 year with minimum age as 28 and maximum as 50 year. In this study, ages were categorized in two groups; one is 20-35 years age group and second is 36-50 years age group. There were 14(35.0%) patients in 20-35 years age group, while 26(65.0%) in 36-50 years age group. Practical implication: This article will helps to improve the technique for confirmation of presence of mature sperms. Conclusion: TEFNA is more reliable and minimal invasive technique for confirmation of presence mature sperms in men with obstructive azoospermia and is associated with minimal complications. Keywords: TEFNA, Sperms, Azoospermia, Complications