AIM: To investigate whether the endometrium of women with PCOS possesses gene expression changes similar to those found in EC.

DESIGN AND METHODS: Patients with EC, PCOS and control women unaffected by either PCOS or EC were recruited into a cross-sectional study at the Nottingham University Hospital, UK. For RNA sequencing, representative individual endometrial biopsies were obtained from women with EC, PCOS and a woman unaffected by PCOS or EC. Expression of a subset of differentially expressed genes identified by RNA sequencing, including NAD(P)H quinone dehydrogenase 1 (NQO1), was validated by quantitative reverse transcriptase PCR validation (n = 76) and in the cancer genome atlas UCEC (uterine corpus endometrioid carcinoma) RNA sequencing data set (n = 381). The expression of NQO1 was validated by immunohistochemistry in EC samples from a separate cohort (n = 91) comprised of consecutive patients who underwent hysterectomy at St Mary's Hospital, Manchester, between 2011 and 2013. A further 6 postmenopausal women with histologically normal endometrium who underwent hysterectomy for genital prolapse were also included. Informed consent and local ethics approval were obtained for the study.

OBJECTIVE: This study aimed to evaluate the effect of vitamin D treatment on clinical and biochemical outcomes of PA patients.

METHODS: Two hundred forty hypertensive subjects were screened, 31 had positive ARR, and 17 patients with newly confirmed PA following positive confirmatory test that has not been subjected for definitive treatment were enrolled. Clinical parameter (blood pressure) and biochemical parameters (renal profile, plasma aldosterone concentration, plasma renin activity, serum calcium, vitamin D, intact parathyroid hormone, 24-hour urinary calcium) were measured at baseline and 3 months of treatment with Bio-D3 capsule. Primary outcomes were the changes in the blood pressure and biochemical parameters.

RESULTS: About 70% of our PA subjects have low vitamin D levels at baseline. Three months following treatment, there were significant: (a) improvement in 25(OH)D levels; (b) reduction in systolic blood pressure and plasma aldosterone concentration; and (c) improvement in the eGFR. The vitamin D deficient subgroup has the greatest magnitude of the systolic blood pressure reduction following treatment.

DESIGN: An observational study.

PATIENTS: Sexually active men, ≥40 years, with no known urological problems, were recruited at the phlebotomy clinic at our centre.

MEASUREMENTS: A brief history along with latest fasting lipid profile and plasma glucose levels were obtained. An Aging Male Symptoms questionnaire was administered; waist circumference (WC) and serum testosterone concentration were measured.

STATSTICAL ANALYSIS: Analysis of testosterone concentration between Malay, Indian and Chinese men was performed. Statistical tests such as analysis of variance, χ2 test, univariate and multivariable regression were performed. Any p  .05). In the multivariable analysis only Malay ethnicity, WC ≥ 90 cm and low high-density lipoprotein (HDL) were associated with lower testosterone concentration.

DESIGN, PATIENTS AND MEASUREMENTS: Patients with AI on twice-daily hydrocortisone, who had low or moderate risk and intended to fast, were recruited. Patients were converted to prednisolone 5 mg once daily taken at sahur (predawn) and Ramadan education given. Weight, sleep duration, biochemical parameters and quality of life measures (SF-36 questionnaire) were analysed at the end of Ramadan and compared against baseline.

RESULTS: Twenty patients (13 men) were recruited, with a mean age of 59.9 ± 15.0 years. All patients were on hydrocortisone 15 mg daily (in divided doses) as pre-Ramadan glucocorticoid replacement. Half had type 2 diabetes with low IDF-DAR risk. Eighty-five percent of patients completed the full 29 days of fasting with no complications. There was a significant reduction in weight (-1.1 ± 1.6 kg, p = .005), with no significant change in blood pressure or sleep duration. There was a significant increase in urea (0.80 ± 1.1 mmol/L, p = .005) and haematocrit, (0.011 ± 0.019 L/L, p = .019) and decrease in serum sodium (-1.6 ± 3.0 mmol/L, p = .028), with no change in serum creatinine or liver function. Quality of life measures were preserved in all domains with significant improvement in role limitation due to physical health (15.3 ± 21.6, p = .005) and bodily pain (8.8 ± 16.3, p = .031).

DESIGN: We used genome sequencing data to assess the prevalence of mutations in syndromic HH genes in an international cohort of patients with HH of unknown genetic cause.

PATIENTS: We undertook genome sequencing in 82 infants with HH without a clinical diagnosis of a known syndrome at referral for genetic testing.

MEASUREMENTS: Within this cohort, we searched for the genetic aetiologies causing 20 different syndromes where HH had been reported as a feature.

RESULTS: We identified a pathogenic KMT2D variant in a patient with HH diagnosed at birth, confirming a genetic diagnosis of Kabuki syndrome. Clinical data received following the identification of the mutation highlighted additional features consistent with the genetic diagnosis. Pathogenic variants were not identified in the remainder of the cohort.