Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling

THE FATE AND IMPORTANCE OF FETAL LACTATE IN THE HUMAN PLACENTA – A NEW HYPOTHESIS

Peer Reviewe

Clinical research in implant dentistry: study design, reporting and outcome measurements: consensus report of Working Group 2 of the VIII European Workshop on Periodontology.

AIMS: The objective of this working group was to assess and make specific recommendations to improve the quality of reporting of clinical research in implant dentistry and discuss ways to reach a consensus on choice of outcomes. MATERIAL AND METHODS: Discussions were informed by three systematic reviews on quality of reporting of observational studies (case series, case-control and cohort) and experimental research (randomized clinical trials). An additional systematic review provided information on choice of outcomes and analytical methods. In addition, an open survey among all workshop participants was utilized to capture a consensus view on the limits of currently used survival and success-based outcomes as well as to identify domains that need to be captured by future outcome systems. RESULTS: The Workshop attempted to clarify the characteristics and the value in dental implant research of different study designs. In most areas, measurable quality improvements over time were identified. The Workshop recognized important aspects that require continued attention by clinical researchers, funding agencies and peer reviewers to decrease potential bias. With regard to choice of outcomes, the limitations of currently used systems were recognized. Three broad outcome domains that need to be captured by future research were identified: (i) patient reported outcome measures, (ii) peri-implant tissue health and (iii) performance of implant supported restorations. Peri-implant tissue health can be measured by marginal bone level changes and soft tissue inflammation and can be incorporated in time to event analyses. CONCLUSIONS: The Workshop recommended that collaboration between clinicians and epidemiologists/clinical trials specialists should be encouraged. Aspects of design aimed at limitation of potential bias should receive attention by clinical researchers, funding agencies and journal editors. Adherence to appropriate reporting guidelines such as STROBE and CONSORT are necessary standards. Research on outcome measure domains is an area of top priority and should urgently inform a proper process leading to a consensus on outcome measures in dental implant research

Supplementary Material for: Evaluation of the Utility of in utero Treatment of Twin Anemia-Polycythemia Sequence

<b><i>Objective:</i></b> The aim of this study is to evaluate the interest in the in utero treatment of twin anemia-polycythemia sequence (TAPS). <b><i>Methods:</i></b> The obstetrical and neonatal data on all cases of TAPS followed up in our institution between 2006 and 2013 were reviewed. Statistical analyses were conducted using Bayesian methods. <b><i>Results:</i></b> Twenty cases of TAPS were included. Laser therapy or intrauterine transfusion (IUT) was performed on the donor twin in 9 cases. Eleven cases were included in the ‘nontreated' group (managed expectantly or diagnosed at birth). The gestational age at diagnosis was lower in the group with treated TAPS [difference (diff) = -22.20 days (-57.13, 14.28), probability (Pr) (diff >0) = 10.6%]. The rate of preterm premature rupture of membranes was higher in the group with treated TAPS [diff = 22.5% (-14, 57), Pr (diff >0) = 89%], but overall mortality was similar. The interval between diagnosis and delivery was longer [diff = 44.37 days (9.41, 77.90), Pr (diff >0) = 99.2%], the TAPS resolution rate was higher [diff = 49.9% (12, 81), Pr (diff >0) = 99.4%], and the neonatal transfusion rate was lower [diff = -30.5% (-60, 0), Pr (diff >0) = 2.6%] in the treated group. <b><i>Conclusion:</i></b> In utero treatment for TAPS is associated with a higher resolution rate of TAPS and a longer time between diagnosis and birth, but overall mortality is the same as with expectant management

A multicenter randomized controlled trial using a novel collagen membrane for guided bone regeneration at dehisced single implant sites: Outcome at prosthetic delivery and at 1‐year follow‐up

ObjectivesTo compare clinical performance of a novel resorbable nonâ crossâ linked collagen membrane (CXP) with a reference membrane (nonâ crossâ linked resorbable membrane; BG) for simultaneous implant placement and guided bone regeneration (GBR) at dehisced single implant sites.Materials and methodsPreliminary data from this randomized controlled trial were reported previously; this is the 12â month report. The primary outcome measure was defected height at 6 months postâ GBR. Secondary outcomes included implant cumulative survival rate (CSR) and success rate since placement; bone level changes, pink esthetic score (PES), and patient satisfaction since definitive prosthesis delivery; patient quality of life since pretreatment; and the 1â year bleeding index. Nonâ parametric statistical analyses were performed.ResultsAmong patients, 24 were treated with CXP and 25 with BG. The 1â year implant CSR and success rate were 100% (n = 42). Bone level change between definitive prosthetic delivery and 1 year was not significantly different between the CXP and BG groups (BG + 0.42 mm, CXP + 0.01 mm). The PES increased from 7.55 to 8.10 for the CXP group and from 6.48 to 7.48 for the BG group; 1â year bleeding indices were 0 (16 CXP, 18 BG) and 1 (4 CXP, 2 BG). Patient quality of life changed from an OHIPâ 14 score of 6.5 at pretreatment to 1.9 at 1 year. Overall satisfaction (visual analogue score) with function and esthetics was 9.9 and 9.7, respectively. Interâ group differences were not significant for assessed outcomes. No deviceâ related adverse events were reported.ConclusionsThe use of CXP and BG for simultaneous implant placement and GBR at dehisced implant sites similarly reduced defect height and improved secondary measures, indicating nonâ inferiority.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149491/1/clr13426.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149491/2/clr13426_am.pd

Duration of ruptured membranes and vertical transmission of HIV-1: A meta-analysis from 15 prospective cohort studies

Objective: To test the a priori hypothesis that longer duration of ruptured membranes is associated with increased risk of vertical transmission of HIV. Design: The relationship between duration of ruptured membranes and vertical transmission of HIV was evaluated in an individual patient data meta-analysis. Methods: Eligible studies were prospective cohort studies including at least 100 mother-child pairs, from regions where HIV-infected women are counselled not to breastfeed. Analyses were restricted to vaginal deliveries and non-elective Cesarean sections; elective Cesarean section deliveries (those performed before onset of labour and before rupture of membranes) were excluded. Results: The primary analysis included 4721 deliveries with duration of ruptured membranes ≤ 24 h. After adjusting for other factors known to be associated with vertical transmission using logistic regression analysis to assess the strength of the relationship, the risk of vertical HIV transmission increased approximately 2% with an increase of 1 h in the duration of ruptured membranes [adjusted odds ratio, 1.02; 95% confidence interval, 1.01-1.04; for each 1 h increment]. There were no significant interactions of duration of ruptured membranes with study cohort or with any of the covariates, except maternal AIDS. Among women diagnosed with AIDS, the estimated probability of transmission increased from 8% to 31% with duration of ruptured membranes of 2 h and 24 h respectively (P &lt; 0.01). Conclusions: These results support the importance of duration of ruptured membranes as a risk factor for vertical transmission of HIV and suggest that a diagnosis of AIDS in the mother at the time of delivery may potentiate the effect of duration of ruptured membranes. © 2001 Lippincott Williams &amp; Wilkins