Outcomes of Minimally Invasive Adrenalectomy for Large Adrenal Masses: A Multi-Centre Experience in Saudi Arabia.

Introduction Advancements in radiological imaging technology have increased the discovery of adrenal incidentalomas. Large adrenal tumors (LATs) are not common, and the likelihood of malignancy increases with tumor size. LATs were defined as tumors larger than four centimeters (cm) with various pathologic diagnoses. Traditionally, open adrenalectomy was considered the gold standard for LATs, but with recent advancements in minimally invasive surgery (MIS), optimum perioperative and long-term outcomes are achievable by the MIS approach. The findings presented in this paper show that even large adrenal masses measuring up to 21 centimeters can be safely removed using a minimally invasive approach. Methodology After Institutional Review Board (IRB) approval, we reviewed medical records of adult patients who had adrenalectomies at two Saudi Arabian centers from January 2013 to February 2023. Inclusion criteria were laparoscopic or robotic adrenalectomy and adrenal lesions ≥5cm. Pediatric patients and those with open adrenalectomies were excluded. Pre-surgery, patients had imaging studies to assess mass characteristics. Pheochromocytoma patients received a 2-week adrenergic blocker treatment. Perioperative data including demographics, comorbidities, mass characteristics, surgery details, and follow-up were analyzed using SPSS-23. Patients provided informed consent and had follow-up appointments and imaging. Results Our experience involved 35 patients, 29 of whom received laparoscopic treatment and six of whom underwent robotic surgery. Of the 35 patients, more than half were females (57.1%), with a mean age of 41.7±14.9 years, the youngest and oldest participants being 16 and 73 years of age, respectively. The mean body mass index (BMI) of the participants was in the overweight range (26±6.0 kg/m2). The most common mode of presentation was incidental (42.9%), followed by hypertension (17.1%). Most patients had right-sided adrenal gland involvement (48.6%), with only four patients showing bilateral involvement. Most of the patients were classified as American Society of Anesthesiology score (ASA) 2 (40.0%) or ASA 3 (40.0%). Most of the patients were diagnosed with myelolipoma or adenoma (22.9% each) followed by pheochromocytoma (17.1%). The average estimated blood loss (EBL) was 189.3±354.6 ml for patients who underwent laparoscopic surgery and 80.0 ±34.6 ml for patients who underwent robotic surgery. The average operative room time (ORT) was 220.1±98.7 minutes (min) for laparoscopic surgery and 188.3±10.3 min for robotic surgery. One patient had to be converted from laparoscopic to open surgery due to aortic injury. The average length of stay (LOS) was 9.5±6.7 days for laparoscopic treatment and 5.5±1.9 days for robotic surgery. The mean tumor size in the greatest dimension was 8.0±4.4 cm. Only one patient who underwent unilateral laparoscopy experienced perioperative complications and converted to open surgery; nine patients who underwent unilateral laparoscopy required blood transfusion, and none of the patients who underwent robotic surgery required transfusion. None of the 35 patients experienced a recurrence of their adrenal disease during the mean follow-up period which lasted around 58 months. Conclusion MIS in Saudi Arabia is growing and is a safe method for LATs, with satisfactory surgical results compared to the traditional open surgery approach. It offers advantages in terms of EBL, complications, and disease recurrence.

Laparoendoscopic Single-Site Surgery (LESS) for Right Donor Nephrectomy in a Patient With Situs Inverses Totalis: A Novel Approach for Such a Case.

Situs inversus totalis (SIT) is a rare congenital condition where the organs of the thorax and abdomen are arranged in a mirror image reversal of their normal position. Patients with SIT present unique challenges in surgical procedures, particularly in laparoscopic surgeries, due to the need to reverse the operator's perspective, technical difficulty in handling the instruments, anatomical variations, and an increased risk of intraoperative complications. In this case report, we present the first case in the English literature of a 49-year-old Arabic male patient with SIT who underwent a successful right laparoendoscopic single-site surgery donor nephrectomy. We described the surgical technique used and highlighted the key challenges faced and overcome during the procedure.

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

BACKGROUND: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination. CLINICAL PRESENTATION: We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor. No significant hematological abnormalities were observed. Exome sequencing analysis identified a novel homozygous mutation, c.3G>A - P(Met1I), affecting the acceptor site of intron 4 of the TCN2 gene (chromosome 22: 31003321, NM_000355.4), leading to likely pathogenic variant potentially affecting translation. Following treatment with hydroxocobalamin, the patient demonstrated partial clinical improvement. He has a sibling with overt hematological abnormalities and subtle neurological abnormalities who is homozygous to the same mutation. Both parents are heterozygous for the same mutation. CONCLUSIONS: In infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation for TCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.

Chylous Ascites Following Laparoscopic Donor Nephrectomy: A Case Report.

Chylous ascites is a form of peritoneal fluid accumulation that can arise from trauma or lymphatic obstruction. In this report, we present the first case of chylous ascites following laparoscopic donor nephrectomy in our high-volume kidney transplant center. The patient presented to the emergency department three weeks post-procedure with complaints of abdominal distention and discomfort, accompanied by constipation and nausea. Radiological confirmation of ascites was followed by paracentesis, which yielded 20 mL of milky fluid that was analyzed and confirmed as chylous ascites. A subsequent pigtail drain was inserted, resulting in a total drainage of 4 L of fluid. Chylous ascites is a rare complication of abdominal surgeries, with higher body mass index and the American Society of Anesthesiologists physical status score system being significant risk factors. Conservative management involving diet modification is the initial therapy, with percutaneous drainage or more aggressive surgical interventions considered if conservative measures are not effective, with high success rates reported for these interventions. Here, we report a case of chylous ascites following donor nephrectomy as the first case reported from our region.

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.

A Large Inflammatory Myofibroblastic Tumor of the Urinary Bladder in a Parturient Treated by Partial Cystectomy: Case Report and Literature Review.

Inflammatory myofibroblastic tumor (IMT) is a rare type of tumor composed mainly of fibroblastic and myofibroblastic spindle cells, with an inflammatory infiltrate of lymphocytes, plasma cells, and eosinophils. IMT may arise from different organs and sites, but it is infrequent to arise from the urinary bladder and usually manifests as hematuria. We report a case of a 24-year-old pregnant woman who presented to our hospital with gross hematuria. After further workup, we concluded that she had this extremely rare tumor, which was resected eventually with a partial cystectomy. Although the diagnosis of these kinds of tumors is usually made by anaplastic lymphoma kinase (ALK) using immunohistochemistry and detecting ALK gene translocation using fluorescence in situ hybridization (FISH), they were negative in our study; hence, we relied mainly on the morphological features of the tumor for the diagnosis.

A Retrospective Chart Review of Skin Cancer Pattern and Clinical Outcomes Among Saudi Patients Visiting a Tertiary Care Hospital in Western Saudi Arabia From 1987-2016.

Background Skin cancer is one of the most common cancers worldwide. However, limited studies have been conducted on this disease in Saudi Arabia. This study aimed to describe the prevalence, treatment modalities, and outcomes of skin cancer in a tertiary care hospital in western Saudi Arabia. Methods A retrospective review of the medical records of all Saudi patients visiting King Abdulaziz Medical City hospital in Jeddah between 1987 and 2016 was performed. Results In total, 132 patients were diagnosed with skin cancer during the study period, however, only 119 cases were analyzed because of missing information. The male-to-female ratio was 1.09:1. The age at diagnosis ranges from 16-94 (mean age: 63.3 years). The most common type of skin cancer was basal cell carcinoma, followed by squamous cell carcinoma and malignant melanoma. The most common anatomical site was the head and neck region. The most common form of treatment modality was surgery. Of the studied patients, 49.6% were cured, 20.2% were in remission, 12.6% relapsed, and 17.6% died. Conclusions This study showed an equal male to female ratio with variant cumulative incidence over the years. Surgery was the most common treatment modality and had the highest curative outcome. Primary care physicians should be probed further to raise awareness and screen their patients to ensure early detection of possible skin cancer.

Upper Urinary Tract Urothelial Carcinoma With Squamous, Glandular, and Sarcomatoid Variants in a Horseshoe Kidney: A Novel Case Report and Literature Review.

Horseshoe kidney is a congenital anomaly, which consists of fusion of the lower poles of the kidneys. Cancer in a horseshoe kidney is common, possibly because of the increased risk of chronic obstruction, renal calculi, and recurrent urinary infection. We report a case of a 64-year-old male with a horseshoe kidney who presented to our hospital with gross hematuria and flank pain, which was highly suggestive of pyelonephritis. Comprehensive workup and imaging were performed and showed an extremely rare form of tumor consisting of three histological variants: squamous, glandular, and sarcomatoid. To the best of our knowledge, this is the first case reported with these three histological variants in a horseshoe kidney.