Dataset Information

Clinical Genetics of Polydactyly: An Updated Review.

ABSTRACT: Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types, i.e.; preaxial polydactyly (radial), central polydactyly (axial), and postaxial polydactyly (ulnar). Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1. In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis.

SUBMITTER: Umair M

PROVIDER: S-EPMC6232527 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Clinical Genetics of Polydactyly: An Updated Review.

Umair Muhammad M Ahmad Farooq F Bilal Muhammad M Ahmad Wasim W Alfadhel Majid M

Frontiers in genetics 20181106

Polydactyly, also known as <i>hyperdactyly</i> or <i>hexadactyly</i> is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types, i.e.; preaxial polydactyly (radial), central polydactyly (axial), and postaxial polydactyly (ulnar). Mostly inherite ...[more]

PMID: 30459804

Similar Datasets

Project description:Paclitaxel is an anticancer agent efficacious in the treatment of ovarian, breast, and lung cancer. Due to a strong link between the pharmacokinetics and therapeutic efficacy of paclitaxel, we reviewed the literature on paclitaxel pharmacokinetics. Systematic data mining was performed to extract the maximum concentration (C max), clearance (CL), and time of paclitaxel plasma concentration above 0.05 µmol/L (T > 0.05 µmol/L) following monotherapy of both the widely used cremophor-diluted paclitaxel and nanoparticle albumin-bound (nab-)paclitaxel. We identified a total of 53 studies yielding 121 aggregated pharmacokinetic profiles for paclitaxel monotherapy and extracted reported mean and median estimates of pharmacokinetic parameters. Paclitaxel has been studied formally at doses of 15-825 mg/m2 and infused over 0.5-96 h; included studies examined both weekly and every 3-weeks dosing cycles. The most widely used dose of cremophor-diluted paclitaxel, 175 mg/m2 given as a 3-h infusion, leads to an interstudy median C max of 5.1 µmol/L [interquartile range (IQR) 4.5-5.7], CL of 12.0 L/h/m2 (IQR 10.9-12.9), and T > 0.05 µmol/L of 23.8 h (IQR 21.5-26.8). Importantly, the significant interindividual variation widely reported in the literature is not reflected in these interstudy estimates of pharmacokinetic parameters. Cremophor-diluted paclitaxel pharmacokinetics are non-linear following short (<6 h) but not long (>24 h) infusions. A similar pattern of non-linearity was observed for nab-paclitaxel, although the number of studies was limited. The pharmacokinetics of paclitaxel monotherapy have been widely studied at numerous dose levels of the Cremophor EL® formulation, but are less well-characterized for the newer nab-paclitaxel formulation. In conclusion, paclitaxel pharmacokinetics are non-linear for short infusion times but not for longer infusions. Whether a similar conclusion can be drawn for nab-paclitaxel formulations requires further study.

Project description:ContextThe objective of this systematic review was to update a prior review and summarize the evidence (newly identified and cumulative) on the impact of contraceptive counseling provided in clinical settings.Evidence acquisitionMultiple databases, including PubMed, were searched during 2016-2017 for articles published from March 1, 2011, to November 30, 2016.Evidence synthesisThe search strategy identified 24,953 articles; ten studies met inclusion criteria. Two of three new studies that examined contraceptive counseling interventions (i.e., enhanced models to standard of care) among adolescents and young adults found a statistically significant positive impact on at least one outcome of interest. Five of seven new studies that examined contraceptive counseling, in general, or specific counseling interventions or aspects of counseling (e.g., personalization) among adults or mixed populations (adults and adolescents) found a statistically significant positive impact on at least one outcome of interest. In combination with the initial review, six of nine studies among adolescents and young adults and 16 of 23 studies among adults or mixed populations found a statistically significant positive impact of counseling on at least one outcome of interest.ConclusionsOverall, evidence supports the utility of contraceptive counseling, in general, and specific interventions or aspects of counseling. Promising components of contraceptive counseling were identified. The following would strengthen the evidence base: improved documentation of counseling content and processes, increased attention to the relationships between client experiences and behavioral outcomes, and examining the comparative effectiveness of different counseling approaches to identify those that are most effective.Theme informationThis article is part of a theme issue entitled Updating the Systematic Reviews Used to Develop the U.S. Recommendations for Providing Quality Family Planning Services, which is sponsored by the Office of Population Affairs, U.S. Department of Health and Human Services.

Dataset Information

Clinical Genetics of Polydactyly: An Updated Review.

Publications

Clinical Genetics of Polydactyly: An Updated Review.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets