Extra-gastrointestinal stromal tumors (EGISTs): A case report for a mischief entity.

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.

Artificial Intelligence and Patient Autonomy in Obesity Treatment Decisions: An Empirical Study of the Challenges.

Background This study aims to explore the factors associated with artificial intelligence (AI) and patient autonomy in obesity treatment decision-making. Methodology A cross-sectional, online, descriptive survey design was adopted in this study. The survey instrument incorporated the Ideal Patient Autonomy Scale (IPAS) and other factors affecting patient autonomy in the AI-patient relationship. The study participants included 74 physicians, 55 dieticians, and 273 obese patients. Results Different views were expressed in the scales AI knows the best (µ = 2.95-3.15) and the patient should decide (µ = 2.95-3.16). Ethical concerns (µ = 3.24) and perceived privacy risks (µ = 3.58) were identified as having a more negative influence on patient autonomy compared to personal innovativeness (µ = 2.41) and trust (µ = 2.85). Physicians and dieticians expressed significantly higher trust in AI compared to patients (p < 0.05). Conclusions Patient autonomy in the AI-patient relationship is significantly affected by privacy, trust, and ethical issues. As trust is a multifaceted factor and AI is a novel technology in healthcare, it is essential to fully explore the various factors influencing trust and patient autonomy.

Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.

Aldosterone synthase deficiency (ASD) is a rare potentially life-threatening genetic disorder that usually presents during infancy due to pathogenic variants in the CYP11B2 gene. Knowledge about CYP11B2 variants in the Arab population is scarce. Here, we present and analyze five Palestinian patients and their different novel pathogenic variants. Data on clinical presentation, electrolytes, plasma renin activity, and steroid hormone levels of five patients diagnosed with ASD were summarized. Sequencing of the CYP11B2 gene exons was followed by evolutionary conservation analysis and structural modeling of the variants. All patients were from highly consanguineous Palestinian families. The patients presented at 1-4 months of age with recurrent vomiting, poor weight gain, hyponatremia, hyperkalemia, and low aldosterone levels. Genetic analysis of the CYP11B2 gene revealed three homozygous pathogenic variants: p.Ser344Profs*9, p.G452W in two patients from an extended family, and p.Q338stop. A previously described pathogenic variant was found in one patient: p.G288S. We described four different CYP11B2 gene pathogenic variants in a relatively small population. Our findings may contribute to the future early diagnosis and therapy for patients with ASD among Arab patients who present with failure to thrive and compatible electrolyte disturbances.

Incidence and Characteristics of Revision Adenoidectomy Among Pediatric Patients at King Abdulaziz University Hospital in Saudi Arabia.

Background Adenoidectomy 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 Methods We 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). Results The 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). Conclusion The 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.

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

PURPOSE: All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of life, despite the presence of nearly normal NK and T cell numbers. Reporting five children of one extended family with hemizygous mutations in IL2RG, we explore potential diagnostic clues and extend our comprehension of the functional impact of this mutation. METHODS: Whole exome sequencing (WES); detailed immune phenotyping; cytokine-induced STAT phosphorylation; B, T, and NK cell activation; and quantification of sjTRECs in five Arab children with c.664C>T (p.R222C) IL2RG mutation. RESULTS: The mean age at clinical presentation with respiratory tract infection or diarrhea was 6.8 (range: 2-12) months. None of the children presented with opportunistic infections. Diagnostic clues were early onset in the first year of life, and a suggestive family history associated with reduced naïve CD4 T cells and absent switched memory B cells. Number and phenotype of NK cells and innate-like lymphocytes were normal. The diagnosis was made by WES and corroborated by absent STAT phosphorylation and reduced functional response after IL-2 and IL-21 stimulation. Four patients underwent successful hematopoietic stem cell transplantation. CONCLUSIONS: 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.