Hypoplastic Metatarsals--Beyond Cosmesis.
Ontology highlight
ABSTRACT:
SUBMITTER: Sharma A
PROVIDER: S-EPMC4713011 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Publications
Hypoplastic Metatarsals--Beyond Cosmesis.
Sharma Amita A Phillips Alfred J AJ Jüppner Harald H
The New England journal of medicine 20151101 22
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Project description:Diaphyseal morphology of long bones, in part, reflects in vivo loads experienced during the lifetime of an individual. The first metatarsal, as a cornerstone structure of the foot, presumably expresses diaphyseal morphology that reflects loading history of the foot during stance phase of gait. Human feet differ substantially from those of other apes in terms of loading histories when comparing the path of the center of pressure during stance phase, which reflects different weight transfer mechanisms. Here we use a novel approach for quantifying continuous thickness and cross-sectional geometric properties of long bones in order to test explicit hypotheses about loading histories and diaphyseal structure of adult chimpanzee, gorilla, and human first metatarsals. For each hallucal metatarsal, 17 cross sections were extracted at regularly-spaced intervals (2.5% length) between 25% and 65% length. Cortical thickness in cross sections was measured in one degree radially-arranged increments, while second moments of area were measured about neutral axes also in one degree radially-arranged increments. Standardized thicknesses and second moments of area were visualized using false color maps, while penalized discriminant analyses were used to evaluate quantitative species differences. Humans systematically exhibit the thinnest diaphyseal cortices, yet the greatest diaphyseal rigidities, particularly in dorsoplantar regions. Shifts in orientation of maximum second moments of area along the diaphysis also distinguish human hallucal metatarsals from those of chimpanzees and gorillas. Diaphyseal structure reflects different loading regimes, often in predictable ways, with human versus non-human differences probably resulting both from the use of arboreal substrates by non-human apes and by differing spatial relationships between hallux position and orientation of the substrate reaction resultant during stance. The novel morphological approach employed in this study offers the potential for transformative insights into form-function relationships in additional long bones, including those of extinct organisms (e.g., fossils).
| S-EPMC4311976 | biostudies-literature
Project description:BackgroundThe intermetatarsal joint between the fourth and fifth metatarsals (4-5 IM) is important in defining fifth metatarsal fractures. The purpose of the current study was to quantify this joint in order to determine the mean cartilage area, the percentage of the articulation that is cartilage, and to give the clinician data to help understand the joint anatomy as it relates to fifth metatarsal fracture classification.MethodsTwenty cadaver 4-5 IM joints were dissected. Digital images were taken and the articular cartilage was quantified by calibrated digital imaging software.ResultsFor the lateral fourth proximal intermetatarsal articulation, the mean area of articulation was 188 ± 49 mm2, with 49% of the area composed of articular cartilage. The shape of the articular cartilage had 3 variations: triangular, oval, and square. A triangular variant was the most common (80%, 16 of 20 specimens). For the medial fifth proximal intermetatarsal articulation, the mean area of articulation was 143 ± 30 mm2, with 48% of the joint surface being composed of articular cartilage. The shape of the articular surface was oval or triangular. An oval variant was the most common (75%, 15 of 20 specimens).ConclusionThis study supports the notion that the 4-5 IM joint is not completely articular and has both fibrous and cartilaginous components.Clinical relevanceThe clinical significance of this study is that it quantifies the articular surface area and shape. This information may be useful in understanding fifth metatarsal fracture extension into the articular surface and to inform implant design and also help guide surgeons intraoperatively in order to minimize articular damage.
| S-EPMC8702710 | biostudies-literature
Project description:INTRODUCTION:Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE:The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery. STUDY DESIGN:This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty. RESULTS:Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P < 0.001) and fathers (P ? 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P < 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings. DISCUSSION:This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life. CONCLUSION:In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.
| S-EPMC5894813 | biostudies-literature
Project description:BackgroundLaser resurfacing produces a controlled skin injury, resulting in a wound healing response. This wound healing response allows for collagen remodeling, which improves skin texture and tone. Topical agents are often employed following laser treatments to facilitate recovery. The introduction of newer small-molecule technologies allow for improved recovery and cosmesis.ObjectiveWe sought to perform a critical review of the safety and efficacy of newer small-molecule technologies employed following laser resurfacing.MethodsWe performed a PubMed search of the generic name of the following topicals and included literature relevant to laser procedures, with an emphasis on laser resurfacing: thermal spring water, conjugated linolenic acid, vitamin C/vitamin E/ferulic acid serum, tripeptide/hexapeptide technology-containing products, growth factor serum and gel, recombinant human epidermal growth factor ointment and gel, red deer umbilical cord lining mesenchymal stem cell extract cream and serum, silicone-based gel, and microparticulate (1-3, 1-6 beta-glucan) gel.ResultsOur search of the PubMed database yielded 62 results, out of which 17 clinical studies were included in this publication. The majority of aforementioned topicals show promise in terms of improving post-resurfacing recovery or cosmesis.ConclusionClinical data regarding these agents is limited by the number and quality of studies. It is therefore challenging to propose a recommendation supporting any particular topical. We provide our own provider-specific post-laser resurfacing protocols to offer insight regarding new small-molecule technologies.
| S-EPMC8570656 | biostudies-literature
Project description:Short metacarpals and/or metatarsals are typically observed in pseudohypoparathyroidism (PHP) type Ia (PHP1A) or pseudo-PHP (PPHP), disorders caused by inactivating GNAS mutations involving exons encoding the alpha-subunit of the stimulatory G protein (Gsα). Skeletal abnormalities similar to those in PHP1A/PPHP were present in several members of an extended Belgian family without evidence for abnormal calcium and phosphate regulation. Direct nucleotide sequencing of genomic DNA from an affected individual (190/III-1) excluded GNAS mutations. Instead, whole exome analysis revealed a novel heterozygous A>G change at nucleotide -3 upstream of PTHLH exon 3 that encodes the last two amino acids of the prosequence and the mature PTHrP. The same nucleotide change was also found in her affected mother and maternal aunt (190/II-2, 190/II-1), and her affected twin sons (190/IV-1, 190/IV-2), but not in her unaffected daughter (190/IV-3) and sister (190/III-2). Complementary DNA derived from immortalized lymphoblastoid cells from 190/IV-2 (affected) and 190/IV-3 (unaffected) was PCR-amplified using forward primers located either in PTHLH exon 1 (noncoding) or exon 2 (presequence and most of the prosequence), and reverse primers located in the 3'-noncoding regions of exons 3 or 4. Nucleotide sequence analysis of these amplicons revealed for the affected son 190/IV-2, but not for the unaffected daughter 190/IV-3, a heterozygous insertion of genomic nucleotides -2 and -1 causing a frameshift after residue 34 of the pre/prosequence and thus 29 novel residues without homology to PTHrP or any other protein. Our findings extend previous reports indicating that PTHrP haploinsufficiency causes skeletal abnormalities similar to those observed with heterozygous GNAS mutations. © 2018 American Society for Bone and Mineral Research.
| S-EPMC6637419 | biostudies-literature
Project description:BACKGROUND AND AIM:A recent survey of people with lower limb absence revealed that patients' satisfaction with their foam cosmesis is lower than desired. The aim of this project was to improve the lifelike appearance, functionality and durability of the cosmesis through a user-centred design methodology. TECHNIQUE:Concept development and prototyping led to a new cosmesis design which features a cut-out located at the knee, inserted with an artificial patella made of a more rigid foam. It also features a full-length zip which provides easy access for maintenance. The new cosmesis was then mechanically tested for over 1 million cycles and clinically tested by six transfemoral prosthesis users over 18 patient months. DISCUSSION:The new design is significantly more durable than the current standard model and has an enhanced lifelike appearance. It has potential to improve users' body image and reduce costs for healthcare providers. Clinical relevance This study contributes to practice by offering a new cosmesis design with enhanced appearance and durability, with the potential to improve patients' body image and reduce costs associated with cosmesis fitting and maintenance.
| S-EPMC5888772 | biostudies-other
Project description:Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD.
| S-EPMC5737968 | biostudies-literature
Project description:ObjectiveMicro-RNAs (miRNAs) are important regulators of gene expression through interaction with the 3'UTR of target messenger RNAs (mRNAs). The role of miRNAs has been extensively studied in adult human and nonhuman animal models of heart disease. Hypoplastic left heart syndrome (HLHS) is the most common form of severe congenital heart disease and is an important cause of morbidity and mortality in infants and children. The objective of this work was to analyze the miRNA profile in HLHS patients.Methods and resultsmiRNA profile was determined in the right ventricle with the use of miRNA array, and expression was validated with the use of reverse-transcription polymerase chain reaction (RT-PCR). Based on bioinformatics analysis, targets were selected and their expression analyzed with the use of RT-PCR.We found that the miRNA profile of HLHS is novel, with few similarities between pediatric and adult idiopathic dilated cardiomyopathy. Moreover, our analysis identified putative targets for these miRNAs that are known to be important for cardiac development and disease, and that miRNAs and their putative targets are antithetically regulated. We also found that miRNA expression changes with stage of surgery, suggesting that volume unloading of the ventricle has important consequences for gene expression.ConclusionsOur data suggest a unique miRNA profile for HLHS that may be associated with defects in cardiac development and disease.
| S-EPMC4276459 | biostudies-literature
Project description:BackgroundTo report the clinical outcome after a Single Shot 3D-CRT PBI (SSPBI) in breast cancer patients after conservative surgery (ClinicalTrials.gov Identifier: NCT01316328).MethodsA dose of 18 Gy (in the first 4 patients) and 21 Gy (in the remaining 60 patients) was prescribed in a single session and delivered to the index area (i.e. the area of breast including the primary tumor bed and the surrounding tissue) using 3D-CRT with patients in prone position. Acute and late toxicity was assessed using the National Cancer Institute's CTC for Adverse Events. Cosmesis was defined based on modified Harvard criteria. Differences between dosimetric or clinical parameters of patients with/without G2 or more late toxicity or unsatisfactory (poor or fair) cosmetic outcome were evaluated with the Mann-Whitney test. Odds ratios and 95% confidence interval were calculated for cosmesis and fibrosis. Univariate and multivariate analyses(UVA/MVA) were used to determine covariates associated with an increase in fibrosis or fat necrosis rate.ResultsSixty four patients were enrolled. With a median follow-up of 3 years, G2 and G3 subcutaneous fibrosis was detected in 20(31%) and in 8(13%) patients, and ≥G2 fat necrosis was observed in 2(3%) patients. Good to excellent, fair and poor cosmesis was observed in 38(59%), 23(36%) and 3(5%) patients, respectively. Based on UVA, the breast volume receiving more than 21 Gy (V21 Gy) was found to be a predictor of the ≥G1 or ≥G2 fibrosis/fat necrosis. Based on MVA, V21 Gy was confirmed as a predictor for ≥G1 fibrosis/fat necrosis, the results correlated as a trend for ≥G2. Cosmesis was correlated with whole breast (WB) mean dose (p=0.030).ConclusionOur choice of a single dose of 21 Gy significantly increased the treatment related toxicity. However, this should not discourage novel SSPBI approaches with lower equivalent doses.
| S-EPMC3229442 | biostudies-literature
Project description:Shape, size, composition, and function of the bones in the human body vary on the macro, micro and nanoscale. This can influence changes caused by taphonomy and post-mortem preservation, including DNA. Highly mineralised compact bone is less susceptible to taphonomic factors than porous trabecular bone. Some studies imply that DNA can be better preserved in trabecular bone, due to remnants of the soft tissue or bacteria better digesting organic matter while not digesting DNA. The aim of this study was to understand the differences between compact (diaphyses) and trabecular (epiphyses) bone on a molecular level and thus the reasons for the better preservation of the DNA in the trabecular bone. The powder obtained from epiphyses and diaphyses of metacarpals and metatarsals was analysed using ATR-FTIR spectroscopy and compared. Samples with poorest DNA preservation originated from diaphyses, predominantly of metatarsals. They were characterised by higher concentrations of phosphates and crystallinity, while lower collagen quality in comparison to samples with the best DNA preservation. Epiphyses presented higher concentrations of better-preserved collagen while diaphyses had higher concentrations of carbonates and phosphates and higher crystallinity. Due to better-preserved collagen in the epiphyses, the soft tissue remnants hypothesis seems more likely than the bacteria hypothesis.
| S-EPMC10509243 | biostudies-literature