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Background: Breast cancer incidence rates are rising in Africa and mortality is highest in West Africa. Reasons for poor survival are multifactorial but delays in seeking appropriate health care result in late presentation which contributes significantly to poor outcomes. Total delays of more than 3 months have been associated with advanced stage at presentation and poorer survival., Method: A cross-sectional design was used to assess delays in health-seeking behaviour in consecutive breast cancer patients receiving treatment at Korle Bu Teaching Hospital (KBTH) from January to December 2022 using a structured, interviewer-administered questionnaire. Data were gathered to assess health-seeking behaviour in relation to delays in a presentation to a health care facility, and factors that may have influenced the delays. Statistical analysis was done using descriptive and inferential analyses., Results: The study involved 636 participants with a mean age and SD of 52.6 ± 12 years. Most participants were diagnosed with Stage 3 or 4 breast cancer (56.5%). Ninety percent of participants had visited at least one health facility prior to seeking care at KBTH. Forty-two percent of the participants sought care at a health facility less than a month after noticing symptoms of breast cancer while 34.4% did so greater than 3 months after noticing symptoms. Delays showed a significant association with age, marital status, educational level, average monthly income and cancer stage ( p < 0.05). Common reasons for delays were lack of knowledge of breast cancer signs and/or symptoms (47%), advice from family and friends (15%), financial difficulties (9%), seeking alternate treatments (7%), competing priorities (6%) and indifference (5%)., Conclusion: Lack of knowledge about breast cancer was a major cause of delay in seeking health care in this study. Education should specifically target knowledge about breast cancer and the need for appropriate and timely health seeking., Competing Interests: The authors have no conflict of interest to declare. Kirstyn E Brownson is a representative on the ImpediMed Lymphedema Surgeon Advisory Board., (© the authors; licensee ecancermedicalscience.)

BACKGROUND. PET/CT with 18 F-fluoroestradiol (FES) (FDA-approved in 2020) depicts tissues expressing estrogen receptor (ER). Invasive lobular carcinoma (ILC) is commonly ER positive. OBJECTIVE. The primary aim of this study was to assess the frequency with which sites of histologically proven ILC have abnormal uptake on FES PET/CT. METHODS. This prospective single-center pilot study, conducted from December 2020 to August 2021, enrolled patients with histologically confirmed ILC to undergo FES PET/CT; patients optionally underwent FDG PET/CT. Two nuclear radiologists assessed FES PET/CT and FDG PET/CT studies for abnormal uptake corresponding to known ILC sites at enrollment and for additional sites of abnormal uptake, resolving differences by consensus. The primary endpoint was percentage of known ILC sites showing abnormal FES uptake. The alternative to the null hypothesis was that more than 60% of sites would have abnormal FES uptake, exceeding the percentage of ILC with abnormal FDG uptake described in prior literature. A sample size of 24 biopsied lesions was preselected to provide 81% power for the alternative hypothesis (one-sided α = .10). Findings on FES PET/CT and FDG PET/CT were summarized for additional secondary endpoints. RESULTS. The final analysis included 17 patients (mean age, 59.1 ± 13.2 years) with 25 sites of histologically confirmed ILC at enrollment (22 breast lesions, two axillary lymph nodes, one distant metastasis). FES PET/CT showed abnormal uptake in 22 of 25 (88%) lesions, sufficient to reject the null hypothesis ( p = .002). Thirteen patients underwent FDG PET/CT. Four of 23 (17%) sites of histologically confirmed ILC, including additional sites detected and confirmed after enrollment, were identified with FES PET/CT only, and 1 of 23 (4%) was identified only with FDG PET/CT ( p = .18). FES PET/CT depicted additional lesions not detected with standard-of-care evaluation in 4 of 17 (24%) patients (two contralateral breast cancers and two metastatic axillary lymph nodes, all with subsequent histologic confirmation). Use of FES PET/CT resulted in changes in clinical stage with respect to standard-of-care evaluation in 3 of 17 (18%) patients. CONCLUSION. The primary endpoint of the trial was met. The frequency of abnormal FES uptake among sites of histologically known ILC was found to be to be significantly greater than 60%. CLINICAL IMPACT. This pilot study shows a potential role of FES PET/CT in evaluation of patients with ILC. TRIAL REGISTRATION. ClinicalTrials.gov NCT04252859.

Gallbladder agenesis (GA) is an extremely rare congenital entity. The incidence is around 1 per 6500 live births. The majority of patients, estimated between 50 to 70 percent, remain asymptomatic while those who are symptomatic report symptoms mimicking biliary colic. Initial workup for suspected gallbladder pathology such as right upper quadrant ultrasound (US) can be misleading or inconclusive. Furthermore, advanced diagnostic studies such as hepatobiliary iminodiacetic acid (HIDA) scan and endoscopic retrograde cholangio-pancreatography (ERCP) may report non-visualization of the gallbladder and erroneously lead providers to a diagnosis of cystic duct obstruction rather than GA. Consequently, some GA patients are only finally diagnosed intraoperatively. Surgery can be risky in these patients because unnecessary dissection while looking for the non-existent gallbladder can result in injury of the biliary tree, hepatic vasculature, or small bowel. Therefore, clinicians should keep GA on their differential diagnosis list and imaging modalities such as magnetic resonance cholangiopancreatography (MRCP) should be obtained when other tests prove inconclusive. We report a 35-year-old female presenting with chronic symptoms consistent with biliary colic and an equivocal US reported as cholelithiasis. She underwent laparoscopy during which the absence of the gallbladder was noted. Postoperative MRCP confirmed the diagnosis of GA.

Background: Endovascular angioplasty and stent placement is currently the most frequent treatment for iliac artery occlusive disease. However, despite a successful endovascular procedure, some patients do not experience symptomatic improvement and satisfaction with their care. This study seeks to identify patient-related factors associated with lack of symptomatic improvement after endovascular iliac artery treatment in male veterans., Methods: Retrospective review of patients treated with endovascular methods for iliac artery occlusive disease between January 2008 and July 2012 at VA Connecticut Healthcare System. Symptomatic improvement on the first post-operative visit was evaluated, with bilateral treatments counted separately., Results: Sixty-two patients had 91 iliac arteries treated with angioplasty and stent placement. Forty-seven (52 percent) legs had critical limb ischemia, and 77 (85 percent) had at least two-vessel distal runoff. Angiographic success was 100 percent. Patient-reported symptomatic improvement at the first post-operative visit was 55 percent (50/91). Lack of symptomatic improvement correlated with older age (OR 1.09 [1.03-1.17], p = 0.008), presence of critical limb ischemia (OR 3.03 [1.09-8.65], p = 0.034), and need for additional surgical intervention (OR 5.61 [1.65-17.36], p = 0.006). Survival, primary and secondary patency, and freedom from restenosis were comparable between patients who reported symptomatic improvement and those who did not., Conclusions: Despite angiographically successful revascularization, patients who are older or have critical limb ischemia who are treated with isolated endovascular iliac artery intervention are more likely to require additional interventions and less likely to experience symptomatic improvement. These patients may need more extensive infra-inguinal revascularization than isolated iliac angioplasty and stent placement, despite a preserved ankle-brachial index. Quality of life needs to be measured with formal instruments after iliac artery endovascular treatment, especially to determine long term outcomes.

Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyosis in mice. LBR is a bifunctional protein with both a lamin B binding and a sterol Delta(14)-reductase domain. It previously has been proposed that LBR is the primary sterol Delta(14)-reductase and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis. However, DHCR14 also encodes a sterol Delta(14)-reductase and could provide enzymatic redundancy with respect to cholesterol synthesis. To test the hypothesis that LBR and DHCR14 both function as sterol Delta(14)-reductases, we obtained ichthyosis mice (Lbr(-/-)) and disrupted Dhcr14. Heterozygous Lbr and Dhcr14 mice were intercrossed to test for a digenic phenotype. Lbr(-/-), Dhcr14(Delta4-7/Delta4-7) and Lbr(+/-):Dhcr14(Delta4-7/Delta4-7) mutant mice have distinct physical and biochemical phenotypes. Dhcr14(Delta4-7/Delta4-7) mice are essentially normal, whereas Lbr(+/-):Dhcr14(Delta4-7/Delta4-7) mice are growth retarded and neurologically abnormal. Neither of these mutants resembles the ichthyosis mouse and biochemically, no sterol abnormalities were detected in either liver or kidney tissue. In contrast, relatively small transient elevations of Delta(14)-sterols were observed in Lbr(-/-) and Dhcr14(Delta4-7/Delta4-7) brain tissue, and marked elevations were seen in Lbr(+/-):Dhcr14(Delta4-7/Delta4-7) brain. Pathological evaluation demonstrated vacuolation and swelling of the myelin sheaths in the spinal cord of Lbr(+/-):Dhcr14(Delta4-7/Delta4-7) mice consistent with a demyelinating process. This was not observed in either Lbr(-/-) or Dhcr14 (Delta4-7/Delta4-7) mice. Our data support the conclusions that LBR and DHCR14 provide substantial enzymatic redundancy with respect to cholesterol synthesis and that HEM dysplasia and ichthyosis are laminopathies rather than inborn errors of cholesterol synthesis.