As early diagnosis and treatment are important, a high index of suspicion in the diagnosis of c.664C>T (p.R222C) X-SCID is needed. This requires prompt genetic testing by next generation sequencing in order to avoid unnecessary delays in the definite diagnosis since immunological work up may not be discriminating. Assays directly testing cytokine signaling or cytokine-dependent functions are helpful in confirming the functional impact of the identified hypomorphic variants.

BackgroundAdenoidectomy is the most commonly performed pediatric operation worldwide and one of the most frequent otorhinolaryngological procedures. It is a safe procedure with a low risk of complications. However, after a successful adenoidectomy, few patients experience symptoms of nasal obstruction, suggestive of adenoid regrowth. Because of various risk factors, patients require a revision adenoidectomy. This study aimed to determine the incidence of revision adenoidectomy at King Abdulaziz University Hospital (KAUH). Moreover, we aimed to identify the characteristics and factors that present a risk of revision adenoidectomy in pediatric patients. Materials and MethodsWe retrospectively reviewed the medical records of 680 pediatric patients (age below 18 years) of Saudi and non-Saudi descent who underwent a prior adenoidectomy with or without tonsillectomy, as well as those who underwent a revision adenoidectomy. The data from 2015 to 2018 were obtained from the hospital medical records using a data collection sheet.The data were entered on to a Microsoft excel sheet, and descriptive statistical analysis was performed using IBM SPSS software V21 (IBM Corp., Armonk, NY). ResultsThe incidence of revision adenoidectomy at our center was 2.79%. We found significant relationships between comorbidities and revision adenoidectomy (p=0.014), initial adenoidectomy without tonsillectomy and revision adenoidectomy (p=0.001), and a young age at initial surgery and revision adenoidectomy. The mean age at initial adenoidectomy was 2.5 years (standard deviation [SD], ±0.607 years), whereas that at revision adenoidectomy was 1.89 years (SD, ±0.737 years). The mean interval between primary and revision adenoidectomies was 42.32 months (range, 9-86 months). ConclusionThe incidence of revision adenoidectomy at KAUH was 2.79%. Moreover, only adenoidectomy without a tonsillectomy presented a high risk of adenoid regrowth necessitating a revision adenoidectomy. Therefore, we recommend counseling patients to undergo an adenoidectomy with tonsillectomy to reduce the risk of revision adenoidectomy.

Background: Extra-gastrointestinal stromal tumor is a rare subtype of soft tissue sarcomas with significantly variable presentation, management, and prognosis. This makes it crucial to report the different institutional experiences of encountering extra-gastrointestinal stromal tumors (EGIST). Case presentation: We report 3 cases of EGIST diagnosis at American University of Beirut Medical Center for 2 males and 1 female in the 5th, 6th, and 7th decades of life, respectively. For the first case, the tumor was initially suspected to be ovarian cancer, but biopsy revealed a diagnosis of EGIST, and the patient was started on neoadjuvant therapy. In the second case, the tumor was retro-gastric and prelim diagnosis was gastric cancer but again biopsy revealed an EGIST histopathology, and the patient underwent surgery and adjuvant treatment. For the third case, a previous history of testicular cancer prompted an initial suspicion of recurrence with metastasis but biopsy and immunohistochemistry staining revealed EGIST with related markers. The patient underwent treatment at a different institution in his home country. Conclusion: This report sheds light on the importance of keeping EGIST amongst any differential list for abdominal and pelvic tumors. It also shows that EGIST-focused studies are needed to assess the effectiveness of the different treatment modalities available when utilized specifically for EGIST. This would allow for better oncological outcomes and improved quality of life.

Background: Extra-gastrointestinal stromal tumor (EGIST) is a rare subtype of soft tissue sarcomas with significantly variable presentation, management and prognosis. This makes it crucial to report the different institutional experiences of encountering EGIST.Case Presentation: We report three cases of EGIST diagnosis at our institution for 2 males and 1 female in the 5th, 6th and 7th decades of life, respectively. For the first case, the tumor was initially suspected to be ovarian cancer but biopsy revealed a diagnosis of EGIST and the patient was started on neoadjuvant therapy. In the second case, the tumor was retrogastric and prelim diagnosis was gastric cancer but again biopsy revealed an EGIST histopathology and the patient underwent surgery and adjuvant treatment. For the third case, a previous history of testicular cancer prompted an initial suspicion of recurrence with metastasis but biopsy and immunohistochemistry staining revealed EGIST with related markers. The patient underwent treatment at a different institution in his home country.Conclusion: This report sheds light on the importance of keeping EGIST amongst any differential list for abdominal and pelvic tumors. It also shows that EGIST-focused studies are needed to assess the effectiveness of the different treatment modalities available when utilized specifically for EGIST. This would allow for better oncological outcomes and improved quality of life.