Single-Docking Robotic-Assisted Radical Nephroureterectomy in Morbidly Obese Patient Post-Radical Cystectomy With Ileal Conduit: A Case Report.

Bladder cancer is considered the most prevalent malignancy affecting the urinary tract system. Urothelial carcinoma, also known as transitional cell carcinoma (TCC), can arise from the entire urinary tract, with the bladder considered the primary site of origin and representing 95% of all cases. The management of TCC of the upper urinary tract is mainly by nephroureterectomy (NU). To our knowledge, there are no data regarding single-docking robotic-assisted NU following cystectomy with an ileal conduit. Therefore, in this study, we are reporting a case of single-docking robotic-assisted NU in a patient who previously underwent open cystectomy with an ileal conduit. A case of a 57-year-old female diagnosed with bladder cancer 10 years ago and underwent several transurethral resections of bladder tumor (TURBT) sessions presented for the first time in 2019, complaining of hematuria and dropping in the hemoglobin, which was not improving with multiple TURBT. For that, the patient underwent an open radical cystectomy with an ileal conduit. During the follow-up in 2021, computed tomography (CT) of the pelvis and abdomen with intravenous (IV) contrast showed a 7 mm enhancing lesion in the right proximal ureter, which was suspicious of proximal ureter mass. In 2022, the patient was again seen in the outpatient clinic; a CT of the pelvis and abdomen with IV contrast was done and demonstrated a significant progression of the mass size to 2 x 1.5 cm, with no other intraabdominal or intrathoracic lesions. For that, she underwent a single-docking robotic-assisted NU. To conclude, performing a single-docking robotic-assisted NU in a patient who previously underwent open radical cystectomy with an ileal conduit is challenging due to multiple adhesion and altered anatomy. More studies need to be published regarding the long-term outcomes of such procedures.

Aplastic Anemia in Triple X Syndrome.

Triple X syndrome is the most common sex chromosome aneuploidies (SCA) in females. Still, it is underdiagnosed because patients are usually without clear dysmorphism, and the syndrome is not associated with any significant congenital anomalies. We are reporting a case of a 5-year-old girl who presented with aplastic anemia, confirmed by a bone marrow aspiration and biopsy. Her complete workup showed that she has three copies of chromosome X, which, given the diagnosis of triple X syndrome, requires a supportive treatment but not a bone marrow transplant. Few cases of aplastic anemia with sex chromosome abnormalities have been reported. We are reviewing the triple X syndrome in different aspects of the presentation.

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.

Hereditary angioedema (HAE) is a potentially life-threatening autosomal dominant disorder affecting roughly 1:50,000 individuals. It is commonly characterized by swelling of the larynx, gastrointestinal tract, extremities, and skin. There is growing genetic heterogeneity associated with this disease but more than 95% of mutations are found in SERPING1, the gene which encodes complement 1 inhibitor (C1-INH). HAE cohorts from several populations have been published but no large scale study has been reported from the Arab world to date. Here we document the clinical and genetic findings of HAE patients from a single Saudi institution, which is a major referral center at the national level. A total of 51 patients across 17 unrelated families were recruited including two large multi-generational families, of which one contained an in-frame exonic deletion that was resolved through MLPA. Two cases were negative for all the genes we tested (including F12, PLG, ANGPT1, MYOF, KNG1, and HS3ST6). The predominant HAE subtype in our cohort was type I, at 76%. We were able to uncover a mutation in 49 patients (96%). No type III (normal C1-INH) patients were encountered in the clinic, suggesting that this subtype does not play a major role in HAE pathogenesis in Saudi Arabia. Additionally, the existence of four patients with consistently normal complement 4 (C4) levels alongside abnormal C1-INH profiles highlights the utility of dual screening for both proteins in suspected patients.