Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

We analyzed candidate platelet function disorder genes in 13 index cases with a history of excessive bleeding in association with a significant reduction in dense granule secretion and impaired aggregation to a panel of platelet agonists. Five of the index cases also had mild thrombocytopenia. Heterozygous alterations in FLI1 and RUNX1, encoding Friend leukemia integration 1 and RUNT-related transcription factor 1, respectively, which have a fundamental role in megakaryocytopoeisis, were identified in 6 patients, 4 of whom had mild thrombocytopenia. Two FLI1 alterations predicting p.Arg337Trp and p.Tyr343Cys substitutions in the FLI1 DNA-binding domain abolished transcriptional activity of FLI1. A 4-bp deletion in FLI1, and 2 splicing alterations and a nonsense variation in RUNX1, which were predicted to cause haploinsufficiency of either FLI1 or RUNX1, were also identified. Our findings suggest that alterations in FLI1 and RUNX1 may be common in patients with platelet dense granule secretion defects and mild thrombocytopenia.

A case report of an endoscopic approach to life-threatening cecal variceal hemorrhage.

Cecal varices are a rare cause of gastrointestinal bleeding in patients with cirrhosis. We describe a 29-year-old man with decompensated alcoholic cirrhosis who developed gastrointestinal bleeding in the hospital. A computed tomography mesenteric angiogram showed bleeding cecal varices, which were successfully treated by glue injection therapy at colonoscopy. The procedure appeared to be complicated by bacteremia due to Escherichia coli.

Endoscopic retrograde cholangiopancreatography in the comorbid elderly: a retrospective comparative study in New Zealand.

AIM: To ascertain if endoscopic retrograde cholangiopancreatography (ERCP) in the elderly is associated with an increased risk of complications. METHODS: Retrospective study of 509 consecutive ERCPs on 338 patients in one year (2019-2020). Patients were categorised as >75 years old (elderly test group) or ≤75 (controls). The primary outcome was ERCP complications. Secondary outcomes were the length of hospital stay after complications, intensive care admissions, and all-cause mortality at 30 and 90 days. RESULTS: Forty-four complications occurred in a group of 42 (8%) patients; 11 (2%) were severe, including four deaths. The most common complication was pancreatitis n=33 (6%). There was no difference in complication rates between the elderly and younger controls. Length of stay after complications was similar (median five versus four days; p=0.354). All-cause mortality was higher in the elderly at 30-days (8.5% versus 2%; p=0.002) and 90-days (19.7% versus 6.9%; p=0.001), mostly attributed to malignancy. Logistic analysis showed that neither age >75 years nor Charlson Comorbidity Index (CCI) ≥5 was associated with post-ERCP pancreatitis, but a CCI≥5 strongly increased the odds of death at 90-days (AOR=74.44; 95% confidence interval (CI): 9.78- 566.38, p<0.001). CONCLUSION: ERCP is relatively safe in elderly patients, but comorbidities should be considered to avoid subjecting vulnerable individuals with a short life expectancy to unnecessary procedures.

Development and validation of a patient measure of doctor-patient caring.

OBJECTIVE: Conceptualising the doctor-patient relationship as a 'window mirror' exposes care delivery from doctor to self, doctor to patient, patient to self, and patient to doctor. These directions have not been measured concurrently. We aimed to develop and validate a patient questionnaire informed by this model. METHODS: A modified-Delphi exercise was conducted to develop, and face and content validate, the questionnaire. Stage 2 surveyed 495 patients in general practice to assess the internal consistency and construct validity of the questionnaire. RESULTS: The questionnaire is face and content valid. Its internal reliability and construct validity appear good. Patients who care more about their doctor also care more about themselves. A patient or doctor who cares about the other person is associated with increased self-care by that person. CONCLUSIONS: Further development and testing of the patient questionnaire is warranted to validate measurement of how patients perceive the caring they and their doctor give, and receive from, each other. PRACTICE IMPLICATIONS: From the patient perspective the questionnaire may increase awareness of the importance of family doctors and patients caring about each other and themselves. It may inform and evaluate medical students, educational programmes and caring in doctor-patient relationships.

Tax as a motivating factor to make a quit attempt from smoking: a study before and after the April 2010 tax increase.

INTRODUCTION: Increasing excise tax on tobacco is one of the most powerful and cost-effective smoking interventions. Despite this evidence, there has been no substantial tax increase in New Zealand between 2000 and 2010. In April 2010 a 10% tax increase on factory-made cigarettes and a 24% tax increase on loose leaf tobacco was implemented. AIM: To evaluate the effect of cost as a motivating reason for smokers to make a quit attempt before and after the 2010 tobacco tax increase. METHODS: A regression analysis of a cross-sectional study was conducted. Data were collected from August to October 2009 and compared with data collected in July 2010. RESULTS: In 2009, 25.5% of smokers cited cost as a reason for trying to quit smoking compared with 55.6% in 2010. The adjusted odds of making a quit attempt with cost as a reason were 3.6 (95% CI 2.3-5.6, P = <0.001). Furthermore, smokers were more likely to make a quit attempt in 2010 than in 2009. Thirty percent of smokers made at least one quit attempt in 2009 and 39% made a quit attempt in 2010 (adjusted odds ratio 1.5, 95% CI 0.95-2.3, P = <0.1) DISCUSSION: The recent tax increase on tobacco in New Zealand has resulted in more smokers making an attempt to quit smoking and more smokers identifying cost as a motive for quitting.