Anatomical variation in the sphenoidal sinuses in patients with chronic rhinosinusitis: A CT scan study

المخلص: أهداف البحث: يعد فهم تشريح الجيوب الأنفية أمرا بالغ الأهمية لتخطيط الجراحة قبل العملية. تهدف هذه الدراسة إلى تقييم العلاقة بين التغيرات التشريحية للجيوب الجبهية والتهاب الجيوب الأنفية المزمن باستخدام الأشعة المقطعية. طرق البحث: أجريت دراسة وصفية على المرضى الذين يعانون من التهاب الجيوب الأنفية المزمن، والذين أحيلوا لإجراء الأشعة المقطعية إلى قسم التشخيص بالأشعة والتصوير، وتمت مقارنة المعلمات بين مجموعات الدراسة والسيطرة. النتائج: من بين التغيرات التشريحية، كانت وجود أجزاء مساعدة مكررة داخل الجيب الجبهي، وانحسار وبروز الشريان السباتي الداخلي والعصب البصري مرتفعة في الذكور والإناث من الحالات مقارنة بالمجموعة المرجعية. بين التغيرات التشريحية في منطقة الجيوب الأنفية للمشاركين الذكور في مجموعات الدراسة، كان هناك ارتباط كبير مع بروز العصب البصري وانحساره. أظهر بروز العصب البصري في الذكور خطرا أعلى للإصابة بالتهاب الجيوب الأنفية المزمن بين مجموعة الدراسة. الاستنتاجات: توفر المعرفة حول التغيرات التشريحية في الجيوب الجبهية فهما أفضل لحدود الاستئصال الجراحي خلال علاج جراحات الجيوب الجبهية. Abstract: Computerized tomography (CT) of the skull base region has become an indispensable tool for endoscopic sinonasal surgery. Objectives: Fundamental knowledge of the sinus anatomy is crucial for preoperative surgical planning. The aim of this research was to evaluate associations between the anatomical variations sphenoidal sinuses and chronic rhinosinusitis (CRS) by using CT. Methods: A descriptive study was performed on patients with CRS, who were referred to the department of radiodiagnosis and imaging for CT scanning. Parameters were compared between the study and control groups. Results: Among the anatomical variations, the presence of bilateral accessory septa within the sphenoidal sinus, and dehiscence and protrusion of the internal carotid artery and optic nerve (ON), were high in men and women in the case group compared with the control group. Among the anatomical variations in the sinonasal region of the male participants, a significant association (p < 0.05) was observed with ON protrusion and ON dehiscence. ON protrusion (OR = 2.168) in men was associated with elevated risk of CRS in the study population. Conclusion: Knowledge of the anatomical variations in the sphenoid sinuses enables better understanding of the limits of surgical dissection during the treatment of sphenoid sinus surgeries

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members