ABSTRACT
OBJECTIVE: In the Netherlands a nationwide guideline was introduced in 2016, which recommended routine Lynch syndrome screening (LSS) for all women with endometrial cancer (EC) <70 years of age. LSS consists of immunohistochemical (IHC) staining for loss of mismatch repair (MMR) protein expression, supplemented with MLH1 methylation analysis if indicated. Test results are evaluated by the treating gynaecologist, who refers eligible patients to a clinical geneticist. We evaluated the implementation of this guideline. METHODS: From the nation-wide pathology database we selected all women diagnosed with EC < 70 years of age, treated from 1.6.2016-1.6.2017 in 14 hospitals. We collected data on the results of LSS and follow up of cases with suspected LS. RESULTS: In 183 out of 204 tumours (90%) LSS was performed. In 41 cases (22%) MMR protein expression was lost, in 25 cases due to hypermethylation of the MLH1 promotor. One patient was known with a pathogenic MLH1 variant. The option of genetic counselling was discussed with 12 of the 15 remaining patients, of whom three declined. After counselling by the genetic counsellor nine patients underwent germline testing. In two no pathogenic germline variant was detected, two were diagnosed with a pathogenic PMS2 variant, and five with a pathogenic MSH6 variant, in concordance with the IHC profiles. CONCLUSION: Coverage of LSS was high (90%), though referral for genetic counselling could be improved. Gynaecologists ought to be aware of the benefits and possible drawbacks of knowing mutational status, and require training in discussing this with their patients.
Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/etiology , Endometrial Neoplasms/complications , Immunohistochemistry/methods , Aged , Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , Endometrial Neoplasms/pathology , Female , Genetic Predisposition to Disease , Humans , Middle Aged , NetherlandsABSTRACT
Community reproductive health workers play a valuable role in family planning counselling and the distribution of contraceptive methods in rural communities. However, they face stigma, misconceptions and a lack of support. Regular supervision by health workers and support from community leaders can help address these issues.
Subject(s)
Attitude to Health , Community Health Workers , Family Planning Services/statistics & numerical data , Health Personnel , Needs Assessment , Reproductive Medicine , Community Health Workers/education , Community Health Workers/psychology , Health Knowledge, Attitudes, Practice , Health Personnel/education , Health Personnel/psychology , Humans , Reproductive Medicine/education , Surveys and Questionnaires , UgandaABSTRACT
Cervical mucus may cover the embryo transfer catheter during passage of the cervical canal, interfering with the correct placement of the embryo(s) into the uterine cavity. The effect of removal of cervical mucus prior to embryo transfer in IVF/ intracytoplasmic sperm injection (ICSI) on live birth rate was studied. The study was set up as a single blind randomized controlled trial. Couples undergoing IVF/ICSI were randomly allocated to either removal of cervical mucus prior to embryo transfer, or a mock procedure. Randomization was done with stratification for age, cycle number and method of treatment. Primary outcome was live birth rate. A total of 317 couples were included and underwent 428 cycles, of which the outcome of 3 cycles was unknown. Baseline characteristics of both groups were comparable. Live birth occurred in 52 of 220 (24%) cycles in the treatment group and 42 of 205 (21%) cycles in the control group (risk difference 3%, 95% confidence interval-5- 11%). It is unlikely that removal of cervical mucus prior to embryo transfer has a significant effect on live birth rate. A small effect, however, cannot be excluded.
Subject(s)
Cervix Mucus/physiology , Fertilization in Vitro , Infertility/therapy , Sperm Injections, Intracytoplasmic , Adult , Double-Blind Method , Embryo Transfer , Female , Humans , Single-Blind Method , Treatment OutcomeABSTRACT
Studies on the aetiology and treatment of post-stroke hand oedema and shoulder-hand syndrome (SHS) published from January 1973 until August 1998 were identified. Eleven studies were included with at least some control for confounding. These were evaluated on 11 methodological criteria and by standardized effect sizes. There were five aetiological studies: four cohort studies and one study consisting of two case series using a within-subjects design. The matters investigated included lymph scintigraphy in hand oedema, bone scintigraphy, putative risk factors and the existence of autonomic dysregulation and peripheral nerve lesions in SHS. There were six therapeutic studies: one randomized controlled trial, one non-randomized controlled trial, one cohort study and three case series, of which two studies used a within-subjects design. These studies investigated continuous passive motion and neuromuscular stimulation in hand oedema as well as oral corticosteroids, intramuscular calcitonin and trauma prevention in SHS. A great diversity of pathophysiological and therapeutic insight was found. Based on systematic analysis of the literature, the following conclusions seem justified: (i) the shoulder is involved in only half of the cases with painful swelling of wrist and hand, suggesting a "wrist-hand syndrome" between simple hand oedema and SHS; (ii) hand oedema is not lymphoedema; (iii) SHS usually coincides with increased arterial blood flow; (iv) trauma causes aseptic joint inflammations in SHS; (v) no specific treatment has yet proven its advantage over other physical methods for reducing hand oedema; and (vi) oral corticosteroids are the most effective treatment for SHS.
