Blood glucose and nocturnal blood pressure in African and Caucasian men: The SABPA study

Aim

To investigate the relationship between nocturnal blood pressure and chronically elevated blood glucose to determine if these elevated blood glucose concentrations contribute to a non-dipping blood pressure, especially in high-risk groups such as Africans.

Methods

Nocturnal blood pressures and blood glucose levels of 41 non-dipping African and 28 non-dipping Caucasian men were investigated. Ambulatory systolic (SBP) and diastolic blood pressure (DBP) were measured and blood collected in sodium fluoride tubes from the antebrachial vein to determine serum glucose and glycosylated hemoglobin A1c (HbA1c) percentage. The estimated average glucose (eAG) was determined from HbA1c percentage with a regression formula.

Results

The African non-dippers had higher blood pressures (p < 0.001) and elevated HbA1c (p = 0.037) and eAG (p = 0.041) levels compared to the Caucasians. In single, partial and multiple regression analyses nighttime (00:00-04:00) SBP correlated positively with HbA1c (p = 0.069) and eAG (p < 0.001) in the African men. No correlations were found in the Caucasian men. Sensitivity analysis confirmed that the association between nighttime SBP (00:00-04:00) and eAG was independent of carotid intima-media thickness in the African men (R² = 0.617; β = 0.438; p = 0.008).

Conclusion

The blunted nocturnal decline in SBP during the early morning hours is associated with chronically elevated blood glucose in non-dipper African men.     

Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening

There are two mutations in BRCA1 and one in BRCA2, which are present in up to 2.5% of Jewish women. Population genetic testing for Jewish women has been proposed; however, it is unclear how this would impact the uptake of cancer prevention options and psychosocial functioning in women with a positive result. Two thousand and eighty unselected Jewish women were tested for the Jewish BRCA mutations, and 1.1% were positive. Cancer-related distress was measured before testing, and at 1 and 2 years post-testing. Information on uptake of cancer risk reduction options was collected at 2 years. Breast and ovarian cancer risks were estimated using BRCAPRO. Within 2 years of receiving a positive result, 11.1% of women had prophylactic mastectomy, and 89.5% had a prophylactic oophorectomy. The mean breast cancer risk was estimated to be 37.2% at time of testing, compared to 20.9% at 2 years post-testing. The mean ovarian cancer risk was estimated to be 24.5% at time of testing, compared to 7.5% at 2 years following testing. Distress decreased between 1 and 2 years for women with prophylactic mastectomy and oophorectomy (P = 0.02), and for women with prophylactic oophorectomy only (P = 0.04) but not for those with neither surgery. The majority of Jewish women with a BRCA mutation identified through a population screening elected prophylactic oophorectomy, but a few had a prophylactic mastectomy. Uptake of either surgery resulted in decreased distress. Provision of population BRCA testing resulted in reduced risks of breast and ovarian cancers in women with a mutation.     

Comparison of different pain scoring systems in critically ill patients in a general ICU

Background

Pain in critically ill patients in the intensive care unit (ICU) is common. However, pain assessment in critically ill patients often is complicated because these patients are unable to communicate effectively. Therefore, we designed a study (a) to determine the inter-rater reliability of the Numerical Rating Scale (NRS) and the Behavioral Pain Scale (BPS), (b) to compare pain scores of different observers and the patient, and (c) to compare NRS, BPS, and the Visual Analog Scale (VAS) for measuring pain in patients in the ICU.

Methods

We performed a prospective observational study in 113 non-paralyzed critically ill patients. The attending nurses, two researchers, and the patient (when possible) obtained 371 independent observation series of NRS, BPS, and VAS. Data analyses were performed on the sample size of patients (n = 113).

Results

Inter-rater reliability of the NRS and BPS proved to be adequate (kappa = 0.71 and 0.67, respectively). The level of agreement within one scale point between NRS rated by the patient and NRS scored by attending nurses was 73%. However, high patient scores (NRS ≥4) were underestimated by nurses (patients 33% versus nurses 18%). In responsive patients, a high correlation between NRS and VAS was found (r_s = 0.84, P < 0.001). In ventilated patients, a moderate positive correlation was found between the NRS and the BPS (r_s = 0.55, P < 0.001). However, whereas 6% of the observations were NRS of greater than or equal to 4, BPS scores were all very low (median 3.0, range 3.0 to 5.0).

Conclusion

The different scales show a high reliability, but observer-based evaluation often underestimates the pain, particularly in the case of high NRS values (≥4) rated by the patient. Therefore, whenever this is possible, ICU patients should rate their pain. In unresponsive patients, primarily the attending nurse involved in daily care should score the patient's pain. In ventilated patients, the BPS should be used only in conjunction with the NRS nurse to measure pain levels in the absence of painful stimuli.     

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

Background

PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2 mutations are rare causes of hereditary breast cancer but may be important in countries such as Finland where a founder mutation is present. We sought to estimate the contribution of PALB2 mutations to the burden of breast cancer in French Canadians from Quebec.

Methods

We screened all coding exons of PALB2 in a sample of 50 French-Canadian women diagnosed with either early-onset breast cancer or familial breast cancer at a single Montreal hospital. The genetic variants identified in this sample were then studied in 356 additional women with breast cancer diagnosed before age 50 and in 6,448 newborn controls.

Results

We identified a single protein-truncating mutation in PALB2 (c.2323 C>T, resulting in Q775X) in 1 of the 50 high-risk women. This variant was present in 2 of 356 breast cancer cases and in none of 6,440 newborn French-Canadian controls (P = 0.003). We also identified two novel new non-synonymous single nucleotide polymorphisms in exon 4 of PALB2 (c.5038 A>G [I76V] and c.5156 G>T [G115V]). G115V was found in 1 of 356 cases and in 15 of 6,442 controls (P = 0.6). The I76V variant was not identified in either the extended case series or the controls.

Conclusion

We have identified a novel truncating mutation in PALB2. The mutation was found in approximately 0.5% of unselected French-Canadian women with early-onset breast cancer and appears to have a single origin. Although mutations are infrequent, PALB2 can be added to the list of breast cancer susceptibility genes for which founder mutations have been identified in the French-Canadian population.     

Isolated pulmonary amyloidomas: Report of 3 cases with histologic and imaging findings

Amyloid tumors presenting as lung masses are rare. We report 3 patients seen over a 2-year period with multiple lung masses, 2 that were suspicious for metastasis, and one in a patient with chest pain. Pathologic evaluation demonstrated amyloid tumor in each case. Two demonstrated a prominent macrophage giant cell reaction; scattered polyclonal plasma cells were present in two of the cases. PET scanning of 2 of the patients revealed an SUV of 1.9 and 4.0, respectively. Short-term follow-up revealed that none of the 3 cases were associated with lymphoproliferative disorders. This small series and a literature review suggest that pulmonary amyloidomas are usually isolated lesions, and that PET may show increased uptake simulating a neoplasm.