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Introduction Breast cancer (BC) is one of the most common cancers worldwide and it considerably increases morbidity and mortality globally. Screening methods, such as self-examination, clinical examination, and mammography, can help in early detection and treatment, which will help in improving survival rates and reducing mortality. While regular screening of the breast is essential to detect the earliest stages of breast cancer, not all women adhere to regular breast screening. Methods A cross-sectional study was conducted in Jeddah, Saudi Arabia, between December 2021 to July 2022. using an online self-administered questionnaire. The total number of responses (n = 328), Data was analyzed using SPSS 25. Results In this study, out of the 328 respondents, 18.9% reported undergoing regular mammography, 14.3% reported having regular clinical breast examinations, and 38.1% reported practicing regular breast self-examinations.. In addition, the participants' most known warning signs of BC were a lump under their armpit (69.1%). the most perceived barrier to breast self-examination (BSE) was Doing a breast examination will make her worry about what is wrong with her breast (47%). whereas the most barrier to clinical breast examination (CBE) was embarrassment (45.9%). On the other hand, the main barriers that prevented women from having mammograms were embarrassment (36%) and pain (32.6%). Conclusion The most perceived barrier to BSE was women's concern, while embarrassment and painful procedures were significant barriers to performing mammography and CBE. Therefore, adult females in Jeddah need educational programs to improve their knowledge and increase public awareness of breast cancer screening for early detection.
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Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities. Blood lysosomal enzyme levels have also been shown to be elevated with a delay in development. The first variant described was compound heterozygosity for mutations in the MBTPS1 gene: a 1-bp duplication and a missense mutation. In the current study, we examined a Saudi consanguineous family. Clinical features like spondyloepiphyseal dysplasia, indicative of characteristic skeletal abnormalities, and impaired cognitive abilities were observed. Our patient has dysmorphic facial features, short stature, and significant skeletal deformities. A homozygous missense MBTPS1 (c.2634C > A p. (Ser878Arg)) with unknown significance was discovered in the whole exome; pathogenic MBTPS1 variants cause the autosomal recessive Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF, OMIM®: 618392). The whole exome sequence, which described a homozygous missense variant of unknown clinical significance (VUS, class 3 variant) in the MBTPS1 gene, was heterozygous in both asymptomatic parents. We are mindful that changing the classification of a variant of unknown significance is challenging. Considering clinical phenotypes and radiological findings produced by the pathogenic mutation in the MBTPS1 gene, the identified c.2634C > A variant is supported and may be categorized as likely pathogenic based on clinical symptoms.
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Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB-golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. The encoded protein has a function in the secretory pathway, was identified by terminal kinase-like protein, and thus, it may function in mitosis. Mutations in this gene have been associated with GO. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. Mutations, a homozygous frameshift mutation (c.306dup p.(pro 103 Thrfs*20)). Interestingly, phenotypic variability was observed in this patient with GO features that were more atypical than the cases reported in the literature as he looks tall stature where most of the cases reported were short and arachnodactyly fingers which mimic other syndromes.
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The COVID-19 pandemic has created huge economic and healthcare burdens. In most cases, the virus affects the lungs and causes respiratory symptoms. Additionally, its impact on the cranial nerves remains unclear. We thus aimed to investigate cranial nerve dysfunction in patients with COVID-19 infection. We conducted a systematic literature search of relevant and eligible literature in five databases: PubMed, Web of Science, Medline, EBSCO, and Google Scholar. Our sample included 21 case reports, one case series with 29 patients, and one analytical study with 135 cases. Participant ages ranged from 23 months to 72 years (mean age of 47.5 ± 19.02). The mean time from respiratory symptoms to the onset of neurological signs was (9.6 ± 7.4) days, and the mean recovery time was (16.3 ± 15.3) days. Cranial nerve impairment associated with COVID-19 infection has affected a large population, from infants to the elderly. Facial and abducent nerves were the most commonly affected cranial nerves with reported good prognosis or complete recovery within a few days to weeks. Olfactory dysfunctions were widely detected among COVID-19 patients.
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INTRODUCTION: Emergency physicians frequently encounter critically ill patients in circulatory shock requiring definitive airway procedures. Performing rapid sequence intubation in these patients without blood pressure correction has lethal complications. Questioning the efficacy and fearing side effects of push-dose pressors (PDP) has created an obstacle for their use in the emergency department (ED) setting. In this case series we describe the efficacy and side effects of PDP use during peri-intubation hypotension in the ED. CASE SERIES: We included 11 patients receiving PDPs in this case series. The mean increase in systolic blood pressure was 41.3%, in diastolic blood pressure 44.3%, and in mean arterial pressure 35.1%. No adverse events were documented in this case series. CONCLUSION: The use of push-dose pressors during peri-intubation hypotension may potentially improve hemodynamic status when used carefully in the ED.
