Breast cancer (BC) incidence is progressively increasing in Egypt. However, there is insufficient knowledge of the acquired somatic mutations in Egyptian BC patients which limit our understanding of its progression. To the best of our knowledge, this is the first Egyptian cohort to sequence a multiple-gene panel of cancer related genes on BC patients. Four hundred and nine cancer related genes were sequenced in 46 fresh breast tumors of Egyptian BC patients to identify somatic mutations and their frequencies. and were the most top two frequently mutated genes. We detected 15 different somatic mutations in and 8 different ones in , each in 27 samples (58.7%). According to Clinvar database; we found 19 pathogenic somatic mutations: 7 in , 5 in , and single variants of , , , , and We also identified 5 variants with uncertain significance (4 in and 1 in ) and 4 variants with conflicting interpretations of pathogenicity (2 in and 1 in each of and ). Moreover, one drug response variant (p.P72R) in was detected in 8 samples. Furthermore, four novel variants were identified in , , and . Further analysis, by Ingenuity Variant Analysis software (IVA), showed that PI3K/AKT signaling is altered in greater than 50% of Egyptian BC patients which implicates PI3K/AKT signaling as a therapeutic target. In this cohort, we shed the light on the most frequently detected somatic mutations and the most altered pathway in Egyptian BC patients.

Breast cancer (BC) incidence is progressively increasing in Egypt. However, there is insufficient knowledge of the acquired somatic mutations in Egyptian BC patients which limit our understanding of its progression. To the best of our knowledge, this is the first Egyptian cohort to sequence a multiple-gene panel of cancer related genes on BC patients. Four hundred and nine cancer related genes were sequenced in 46 fresh breast tumors of Egyptian BC patients to identify somatic mutations and their frequencies. and were the most top two frequently mutated genes. We detected 15 different somatic mutations in and 8 different ones in , each in 27 samples (58.7%). According to Clinvar database; we found 19 pathogenic somatic mutations: 7 in , 5 in , and single variants of , , , , and We also identified 5 variants with uncertain significance (4 in and 1 in ) and 4 variants with conflicting interpretations of pathogenicity (2 in and 1 in each of and ). Moreover, one drug response variant (p.P72R) in was detected in 8 samples. Furthermore, four novel variants were identified in , , and . Further analysis, by Ingenuity Variant Analysis software (IVA), showed that PI3K/AKT signaling is altered in greater than 50% of Egyptian BC patients which implicates PI3K/AKT signaling as a therapeutic target. In this cohort, we shed the light on the most frequently detected somatic mutations and the most altered pathway in Egyptian BC patients.

Tissue-resident macrophages in the mammary gland are found in close association with epithelial structures and within the adipose stroma, and are important for mammary gland development and tissue homeostasis. Macrophages have been linked to ductal development in the virgin mammary gland, but less is known regarding the effects of macrophages on the adipose stroma. Using transcriptional profiling and single-cell RNA sequencing approaches, we identify a distinct resident stromal macrophage subpopulation within the mouse nulliparous mammary gland that is characterized by the expression of Lyve-1, a receptor for the extracellular matrix (ECM) component hyaluronan. This subpopulation is enriched in genes associated with ECM remodeling and is specifically associated with hyaluronan-rich regions within the adipose stroma and fibrous capsule of the virgin mammary gland. Furthermore, macrophage depletion leads to enhanced accumulation of hyaluronan-associated ECM in the adipose-associated stroma, indicating that resident macrophages are important for maintaining homeostasis within the nulliparous mammary gland stroma.

The management of axial spondyloarthritis (axSpA) is challenging worldwide, and the particular challenges shared by North Africa and the Middle East are mainly related to early diagnosis and standardized management. We believe there are several reasons for these challenges, including: (a) limited awareness of the disease manifestations and prevalence in the region among physicians; (b) the concept of nonradiographic axSpA, while accepted with some difficulty by the rheumatology community, may not be well understood by the referring primary care physicians; (c) access to, and training in magnetic resonance imaging varies greatly between countries in the North Africa and Middle East region, and this may have a large impact on early diagnosis; (d) country-specific treatment guidelines are unavailable; and (e) economic and cultural factors influence patients' attempts to seek and continue treatment. In this review, we will discuss the prevalence of axSpA in North Africa and the Middle East, as well as the challenges to diagnose and treat patients in this region. As rheumatologists practicing in North Africa and the Middle East, we also provide suggestions to assist physicians, other healthcare professionals, and researchers in facilitating early, accurate diagnosis and treatment of axSpA.

PURPOSE: To evaluate the use of intravitreal bevacizumab injections for the treatment of intraretinal cystic spaces associated with gyrate atrophy of the choroid and retina.

METHODS: Retrospective chart review of 5 eyes of 3 patients with intraretinal cystic spaces associated with gyrate atrophy and treated with intravitreal bevacizumab injections was performed. Information obtained included history, examination findings, optical coherence tomography (OCT), OCT angiography, fluorescein angiography, and microperimetric findings before and after the injections.

RESULTS: The mean age of patients was 11 ± 4.6 years. All patients received three monthly bevacizumab injections. The mean corrected distance visual acuity was 0.27 ± 0.10 at baseline and improved to 0.36 ± 0.12 after the injections (P = .015). The mean central macular thickness was 569 ± 127 µm at baseline and improved to 422 ± 123 µm after the injections (P = .067). Microperimetry and OCT angiography performed in 1 patient before and after the three injections showed improved macular sensitivity and vascular density measurements following the injections.

CONCLUSIONS: Intravitreal bevacizumab is safe and effective in the treatment of intraretinal cystic spaces associated with gyrate atrophy. [J Pediatr Ophthalmol Strabismus. 2020;57(6):400-406.].