Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting.

BACKGROUND: BRCA1 and BRCA2 pathogenic variants account for 90% of hereditary breast malignancies, incurring a lifetime breast cancer risk of 85% and 40-45% respectively, in affected individuals. Well-resourced health care settings offer genetic counselling and genetic screening for susceptible individuals, followed by intense breast cancer surveillance programmes for those identified at high risk of breast cancer. Such high standards of care are not available in countries with limited resources. This study assessed breast cancer surveillance behaviors among a cohort of BRCA positive Sri Lankan women. METHODS: A retrospective case review of all patients diagnosed with pathogenic variants in BRCA1 and BRCA2 genes from 2015 to 2022 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was carried out followed by telephone interviews of the respondents. Patients who were not contactable, deceased, undergone bilateral mastectomy and males were excluded from the interview component of the study. Standard descriptive statistics were used to analyze the data using SPSS statistics version 25. RESULTS: Only 25 patients were diagnosed during the study period:14/25 women responded (6/25 deceased, 3/25 non-contactable; 2/25 excluded). 71.4% (10/14) had performed breast self-examination during the preceding month; 35.7% (5/14) had a clinical breast examination (CBE), and 50% (7/14) had undergone a screening/diagnostic mammogram during the last one year. 28.5% (4/14) had undergone both mammography and CBE; 21.45% (3/14) mammogram only, 7.1% (1/14) had CBE only. 42.8%(6/14) had not undergone any surveillance(mammography, CBE or MRI). None had dual screening with mammogram and MRI. 85.71% (12/14) women expressed willingness to participate in a regular screening programme if made available. CONCLUSION: Fifty percent of BRCA1/2 positive women in our study had not undergone annual imaging-based surveillance by mammography or MRI, and none had undergone annual dual screening with mammography and MRI, indicating inadequate breast cancer surveillance in this high-risk group.

Trimester-specific thyroid hormone reference data in Sri Lankan women.

Introduction: Regional differences in thyroid hormones are noted, especially during pregnancy. Objectives: Establish reference values for thyroid function tests for Sri Lankan pregnant women and to determine their comparability with regional data; and determine the prevalence of 2. Thyroid Peroxidase (TPO) antibody positivity and 3. Iodine deficiency among pregnant women with uncomplicated clinical history. Methods: A cross-sectional study conducted in antenatal clinics of a tertiary care maternity center recruited a minimum of 56 women in each trimester in a multistep approach to derive an "ideal-reference population"; Participants with clinically manifested thyroid disease, followed by subjects with sonographically abnormal thyroids and finally those at high risk for thyroid disease as shown by positive TPO levels and urine iodine deficiency were excluded in sequence. Thyroid hormones were measured by chemiluminescence in the ideal reference population. Reference ranges were derived using median and 5th and 95th centiles. Results: Final sample included 369 women. TSH reference ranges of the first (n=64), second (n=188) and third (n=117) trimesters were 0.014-2.77mIU/L, 0.31-3.2 mIU/L and 0.34-3.4 mIU/L, respectively. TPO antibody level showed a weak but significant correlation with TSH (r=0.10,p 0.021) in the final sample. No significant association was found between urine iodine and thyroid function tests. Conclusions: TSH reference ranges observed in this study are concordant with the Caucasian reference values more than the regional values. Discrepancies in study methodology, defining and selection of reference population and methods employed in measuring thyroid hormones in different studies may have accounted for these differences.

Location and Diameter of Intracranial Meningioma as Predictors of Peritumoral Brain Oedema and Mass Effect.

INTRODUCTION: The presence of peritumoral oedema or mass effect with intracranial meningiomas is associated with poor clinical outcomes. This study aimed to investigate magnetic resonance (MR) morphologic features of meningioma, which can predict peritumoral oedema and mass effect. METHODS: Data of 100 consecutive patients diagnosed with meningioma on MRI brain at the neurosurgical MRI unit, National Hospital of Sri Lanka, reported by a Consultant Radiologist were analysed in a retrospective study. Binary logistic regression models were fitted to identify predictors of perilesional oedema and mass effect. RESULTS: Female-to-male ratio was 5.8:1. Patients were aged 18-80 years. Majority (n = 78) were in supratentorial compartment with 16 at parasagittal location. Cerebellopontine angle was the commonest infratentorial site (n = 9). Size of meningiomas ranged from 1.1 to 9.1 cm (largest dimension). Mass effect (n = 68), perilesional oedema (n = 37), and midline deviation (n = 31) were the most commonly reported complications. Maximum diameter of meningioma and its location significantly predicted the presence of perilesional oedema [χ2(2,47) = 6.03, P = .049, Nagelkerke R2 = 18.2%] and mass effect [χ2(2,71) = 16.73, P = .000, Nagelkerke R2 = 39.4%] in two logistic regression models. CONCLUSION: The probability of mass effect and perilesional oedema increased with the maximum diameter. Meningioma extending to both supratentorial and infratentorial compartments had the highest risk of having concomitant perilesional oedema and mass effect.

Transient perivascular inflammation of the carotid artery; a rare cause of intense neck pain.

Carotidynia or Transient Perivascular Inflammation of the Carotid Artery (TIPIC) syndrome is a rare cause of atypical neck pain. Exact aetiopathogenesis of this clinical entity is poorly understood. A 43-year-old female presented with progressively increasing right side neck pain of 3 days duration associated with focal tenderness over the right carotid pulse corresponding to the level of upper border of thyroid cartilage. Her inflammatory markers were not elevated. An ultrasound scan revealed increased echogenicity surrounding the distal common carotid artery, obliteration of the perivascular tissue planes with preserved doppler flow pattern. MRI showed soft tissue thickening around the distal common carotid artery, carotid bulb and proximal external carotid artery on right side of the neck corresponding to sonographic findings with gadolinium enhancement. A diagnosis of TIPIC syndrome was made and she was started on celecoxib. Pain completely subsided within 2 weeks. In conclusion, TIPIC syndrome is a rare differential diagnosis of neck pain. It is caused by a transient perivascular inflammation of the carotid artery. A high degree of suspicion is necessary for the diagnosis. Imaging is the gold standard investigation for the diagnosis of TIPIC syndrome. It is a self-limiting pathology and often responds rapidly to nonsteroidal anti-inflammatory drugs.