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1.
J Hosp Infect ; 129: 58-64, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35940287

ABSTRACT

BACKGROUND: Disease can be spread through contact with contaminated surfaces (fomites). For example, fomites have been implicated in the spread of meticillin-resistant Staphylococcus aureus (MRSA) and Pseudomonas aeruginosa. Antimicrobial surface treatments are a potential method of reducing disease transmission from fomites, and broad-spectrum activity is desirable. AIM: To test cuprous oxide (Cu2O) and cupric oxide (CuO) coatings for antimicrobial activity against 12 micro-organisms including bacteria and fungi. METHODS: We fabricated two surface coatings. The Cu2O coating was fabricated in a simple two-step process using polyurethane to bind the active copper oxide particles; CuO was prepared by heat treatment of Cu2O particles in air to produce cupric oxide (CuO) and to cause early-stage sintering to form a continuous coating. The antimicrobial activity was examined with 10 µL of microbial suspension droplets followed by counting cells as colony-forming units (cfu). FINDINGS: The coatings rapidly killed nine different micro-organisms, including Gram-negative and Gram-positive bacteria, mycobacteria and fungi. For example, the Cu2O/PU coating killed 99.9997% of P. aeruginosa and 99.9993% of S. aureus after 1 h. Efficacy was not reduced after weekly cleanings. The antimicrobial activity of the Cu2O coating was unchanged after abrasion treatment, and the coatings were not cytotoxic to human cells. CONCLUSION: The combination of broad-spectrum antimicrobial activity, abrasion resistance, and low toxicity of the Cu2O coating suggests potential use in healthcare settings.


Subject(s)
Anti-Infective Agents , Methicillin-Resistant Staphylococcus aureus , Humans , Copper/pharmacology , Staphylococcus aureus , Polyurethanes , Methicillin , Pseudomonas aeruginosa , Anti-Bacterial Agents , Anti-Infective Agents/pharmacology , Oxides
2.
Ann Oncol ; 30(3): 471-477, 2019 03 01.
Article in English | MEDLINE | ID: mdl-30596812

ABSTRACT

BACKGROUND: The survival advantage of induction chemotherapy (IC) followed by locoregional treatment is controversial in locally advanced head and neck squamous cell carcinoma (LAHNSCC). We previously showed feasibility and safety of cetuximab-based IC (paclitaxel/carboplatin/cetuximab-PCC, and docetaxel/cisplatin/5-fluorouracil/cetuximab-C-TPF) followed by local therapy in LAHNSCC. The primary end point of this phase II clinical trial with randomization to PCC and C-TPF followed by combined local therapy in patients with LAHNSCC stratified by human papillomavirus (HPV) status and T-stage was 2-year progression-free survival (PFS) compared with historical control. PATIENTS AND METHODS: Eligible patients were ≥18 years with squamous cell carcinoma of the oropharynx, oral cavity, nasopharynx, hypopharynx, or larynx with measurable stage IV (T0-4N2b-2c/3M0) and known HPV by p16 status. Stratification was by HPV and T-stage into one of the two risk groups: (i) low-risk: HPV-positive and T0-3 or HPV-negative and T0-2; (ii) intermediate/high-risk: HPV-positive and T4 or HPV-negative and T3-4. Patient reported outcomes were carried out. RESULTS: A total of 136 patients were randomized in the study, 68 to each arm. With a median follow up of 3.2 years, the 2-year PFS in the PCC arm was 89% in the overall, 96% in the low-risk and 67% in the intermediate/high-risk groups; in the C-TPF arm 2-year PFS was 88% in the overall, 88% in the low-risk and 89% in the intermediate/high-risk groups. CONCLUSION: The observed 2-year PFS of PCC in the low-risk group and of C-TPF in the intermediate/high-risk group showed a 20% improvement compared with the historical control derived from RTOG-0129, therefore reaching the primary end point of the trial.


Subject(s)
Neoplasm Recurrence, Local/drug therapy , Papillomaviridae/pathogenicity , Papillomavirus Infections/drug therapy , Squamous Cell Carcinoma of Head and Neck/drug therapy , Adult , Aged , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Carboplatin/administration & dosage , Cetuximab/administration & dosage , Cisplatin/administration & dosage , Docetaxel/administration & dosage , Female , Fluorouracil/administration & dosage , Humans , Induction Chemotherapy/adverse effects , Male , Middle Aged , Neoplasm Recurrence, Local/pathology , Neoplasm Recurrence, Local/virology , Neoplasm Staging , Paclitaxel/administration & dosage , Papillomaviridae/drug effects , Papillomaviridae/genetics , Papillomavirus Infections/pathology , Papillomavirus Infections/virology , Progression-Free Survival , Squamous Cell Carcinoma of Head and Neck/pathology , Squamous Cell Carcinoma of Head and Neck/virology
3.
J Laryngol Otol ; 132(7): 568-574, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29909787

ABSTRACT

OBJECTIVE: This review aimed to critically analyse data pertaining to the clinical presentation and treatment of neuroendocrine carcinomas of the larynx. METHOD: A PubMed search was performed using the term 'neuroendocrine carcinoma'. English-language articles on neuroendocrine carcinoma of the larynx were reviewed in detail.Results and conclusionWhile many historical classifications have been proposed, in contemporary practice these tumours are sub-classified into four subtypes: carcinoid, atypical carcinoid, small cell neuroendocrine carcinoma and large cell neuroendocrine carcinoma. These tumours exhibit a wide range of biological behaviour, ranging from the extremely aggressive nature of small and large cell neuroendocrine carcinomas, which usually have a fatal prognosis, to the less aggressive course of carcinoid tumours. In small and large cell neuroendocrine carcinomas, a combination of irradiation and chemotherapy is indicated, while carcinoid and atypical carcinoid tumour management entails conservation surgery.


Subject(s)
Carcinoma, Neuroendocrine/genetics , Carcinoma, Neuroendocrine/therapy , Laryngeal Neoplasms/genetics , Laryngeal Neoplasms/therapy , Phenotype , Antineoplastic Protocols , Carcinoid Tumor/genetics , Carcinoid Tumor/pathology , Carcinoid Tumor/therapy , Carcinoma, Neuroendocrine/pathology , Carcinoma, Small Cell/genetics , Carcinoma, Small Cell/pathology , Carcinoma, Small Cell/therapy , Conservative Treatment/methods , Humans , Laryngeal Neoplasms/pathology , Larynx/pathology , Larynx/surgery , Prognosis
4.
Scand J Med Sci Sports ; 28(7): 1775-1783, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29572976

ABSTRACT

The aim of this study was to determine the time course of architectural adaptations in the biceps femoris long head (BFLH ) following high or low volume eccentric training. Twenty recreationally active males completed a two week standardized period of eccentric Nordic hamstring exercise (NHE) training, followed by four weeks of high (n = 10) or low volume (n = 10) training. Eccentric strength was assessed pre- and post intervention and following detraining. Architecture was assessed weekly during training and after two and four weeks of detraining. After six weeks of training, BFLH fascicles increased significantly in the high (23% ± 7%, P < .001, d = 2.87) and low volume (24% ± 4%, P < .001, d = 3.46) groups, but reversed following two weeks of detraining (high volume: -17% ± 5%, P < .001, d = -2.04; low volume: -15% ± 3%, P < .001, d = -2.56) after completing the intervention. Both groups increased eccentric strength after six weeks of training (high volume: 28% ± 20%, P = .009, d = 1.55; low volume: 34% ± 14%, P < .001, d = 2.09) and saw no change in strength following a four week period of detraining (high volume: -7% ± 7%, P = .97, d = -0.31; low volume: -2% ± 5%, P = .99, d = -0.20). Both low and high volume NHE training stimulate increases in BFLH fascicle length and eccentric knee flexor strength. Architectural adaptations reverted to baseline levels within two weeks after ceasing training, but eccentric strength was maintained for at least four weeks. These observations provide novel insight into the effects of training volume and detraining on BFLH architecture and may provide guidance for the implementation of NHE programs.


Subject(s)
Adaptation, Physiological , Exercise , Hamstring Muscles/physiology , Muscle Strength , Physical Conditioning, Human/methods , Adult , Humans , Male , Young Adult
5.
AJNR Am J Neuroradiol ; 39(3): 547-551, 2018 03.
Article in English | MEDLINE | ID: mdl-29242360

ABSTRACT

Anaplastic thyroid carcinoma is fatal if unresectable. However, improved survival has been reported after gross total resection and multimodality therapy. In this report, we describe the contrast-enhanced high-resolution CT characteristics of anaplastic thyroid carcinoma in 57 patients. Anaplastic thyroid carcinoma presented as a large neck mass with necrosis in 82% of cases. The tumors demonstrated common extrathyroidal extension (91%). Sixty-two percent of tumors demonstrated calcification. Visceral space invasion involved the esophagus (62%), trachea (57%), and larynx (29%). Carotid artery encasement was present in 42%, and 43% involved the internal jugular vein. Sixty-three percent had lateral compartment lymphadenopathy; 58% of these nodes were necrotic, and 11% were cystic. No metastatic nodes had calcification. Central compartment lymphadenopathy was seen in 56% of cases, and lateral retropharyngeal lymphadenopathy was detected in 12%. Knowledge of these imaging features aids in guiding the approach to the initial tissue diagnosis with either fine-needle aspiration or core biopsy, assessing the feasibility of surgical resection, and determining prognosis.


Subject(s)
Thyroid Carcinoma, Anaplastic/diagnostic imaging , Thyroid Carcinoma, Anaplastic/pathology , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/pathology , Tomography, X-Ray Computed/methods , Adult , Female , Humans , Male , Middle Aged
6.
J Tissue Eng Regen Med ; 12(1): e408-e421, 2018 01.
Article in English | MEDLINE | ID: mdl-28477583

ABSTRACT

Vascularization is a major hurdle for growing three-dimensional tissue engineered constructs. This study investigated the mechanisms involved in hypoxic preconditioning of primary rat myoblasts in vitro and their influence on local angiogenesis postimplantation. Primary rat myoblast cultures were exposed to 90 min hypoxia at <1% oxygen followed by normoxia for 24 h. Real time (RT) polymerase chain reaction evaluation indicated that 90 min hypoxia resulted in significant downregulation of miR-1 and miR-206 (p < 0.05) and angiopoietin-1 (p < 0.05) with upregulation of vascular endothelial growth factor-A (VEGF-A; p < 0.05). The miR-1 and angiopoietin-1 responses remained significantly downregulated after a 24 h rest phase. In addition, direct inhibition of miR-206 in L6 myoblasts caused a significant increase in VEGF-A expression (p < 0.05), further establishing that changes in VEGF-A expression are influenced by miR-206. Of the myogenic genes examined, MyoD was significantly upregulated, only after 24 h rest (p < 0.05). Preconditioned or control myoblasts were implanted with Matrigel™ into isolated bilateral tissue engineering chambers incorporating a flow-through epigastric vascular pedicle in severe combined immunodeficiency mice and the chamber tissue harvested 14 days later. Chambers implanted with preconditioned myoblasts had a significantly increased percentage volume of blood vessels (p = 0.0325) compared with chambers implanted with control myoblasts. Hypoxic preconditioned myoblasts promote vascularization of constructs via VEGF upregulation and downregulation of angiopoietin-1, miR-1 and miR-206. The relatively simple strategy of hypoxic preconditioning of implanted cells - including non-stem cell types - has broad, future applications in tissue engineering of skeletal muscle and other tissues, as a technique to significantly increase implant site angiogenesis.


Subject(s)
Down-Regulation , Implants, Experimental , MicroRNAs/genetics , Myoblasts/pathology , Neovascularization, Physiologic , Tissue Engineering/instrumentation , Up-Regulation , Vascular Endothelial Growth Factor A/genetics , Animals , Biomarkers/metabolism , Cell Hypoxia/genetics , Cells, Cultured , Desmin/metabolism , Down-Regulation/genetics , Male , Mice, SCID , MicroRNAs/metabolism , Muscle Development/genetics , Myoblasts/metabolism , Platelet Endothelial Cell Adhesion Molecule-1/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism , Rats, Sprague-Dawley , Tissue Scaffolds/chemistry , Up-Regulation/genetics , Vascular Endothelial Growth Factor A/metabolism
8.
Scand J Med Sci Sports ; 26(6): 666-74, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26059634

ABSTRACT

This study aimed to determine: (a) the spatial patterns of hamstring activation during the Nordic hamstring exercise (NHE); (b) whether previously injured hamstrings display activation deficits during the NHE; and (c) whether previously injured hamstrings exhibit altered cross-sectional area (CSA). Ten healthy, recreationally active men with a history of unilateral hamstring strain injury underwent functional magnetic resonance imaging of their thighs before and after six sets of 10 repetitions of the NHE. Transverse (T2) relaxation times of all hamstring muscles [biceps femoris long head (BFlh); biceps femoris short head (BFsh); semitendinosus (ST); semimembranosus (SM)] were measured at rest and immediately after the NHE and CSA was measured at rest. For the uninjured limb, the ST's percentage increase in T2 with exercise was 16.8%, 15.8%, and 20.2% greater than the increases exhibited by the BFlh, BFsh, and SM, respectively (P < 0.002 for all). Previously injured hamstring muscles (n = 10) displayed significantly smaller increases in T2 post-exercise than the homonymous muscles in the uninjured contralateral limb (mean difference -7.2%, P = 0.001). No muscles displayed significant between-limb differences in CSA. During the NHE, the ST is preferentially activated and previously injured hamstring muscles display chronic activation deficits compared with uninjured contralateral muscles.


Subject(s)
Hamstring Muscles/injuries , Hamstring Muscles/physiopathology , Sprains and Strains/physiopathology , Adolescent , Adult , Cross-Sectional Studies , Exercise/physiology , Exercise Test , Hamstring Muscles/diagnostic imaging , Hamstring Muscles/pathology , Humans , Magnetic Resonance Imaging , Male , Muscle Contraction , Muscle Relaxation , Organ Size , Young Adult
9.
Neurographics (2011) ; 6(2): 114-122, 2016 Mar 01.
Article in English | MEDLINE | ID: mdl-30417172

ABSTRACT

The histiocytoses are a rare group of varied but related disorders characterized by abnormal tissue proliferation of macrophages and dendritic cells within tissues. The purpose of this article was to review the imaging findings in patients presenting with CNS and with head and neck manifestations of these disorders. Histiocytoses include but are not limited to Rosai-Dorfman disease, Erdheim Chester disease, Langerhans cell histiocytosis, histiocytic sarcoma, and juvenile xanthogranuloma. A review of the literature was performed to determine the sites of disease involvement. This article includes the demographics, histopathologic criteria for diagnosis, and imaging features of these histiocytoses, and describes the manifestations in locations known to harbor disease: intraaxial and extra-axial intracranial regions, the calvaria, skull base, hypothalamopituitary axis, orbits, paranasal sinuses, spine, and the head and neck region. Histiocytoses have variable imaging appearances in the CNS and in the head and neck region, and radiologists should be aware of the spectrum of findings to avoid mistaking them for other disease processes. LEARNING OBJECTIVE: To understand the general pathophysiology, clinical presentation, and typical imaging characteristics of the most common histiocytoses; comprehend the morphologic and immunohistochemical characteristics of these histiocytoses and the hallmark findings on pathology; and be able to differentiate between these disorders based on their most common presentations.

10.
Ann Oncol ; 26(7): 1476-80, 2015 Jul.
Article in English | MEDLINE | ID: mdl-26025965

ABSTRACT

BACKGROUND: Enhanced phosphoinositide 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway is one of the key adaptive changes accounting for epidermal growth factor receptor (EGFR) inhibitor-resistant growth in head and neck squamous cell carcinoma (HNSCC). We designed a phase II clinical trial of EGFR tyrosine kinase inhibitor (TKI), erlotinib, in association with the mTOR inhibitor, everolimus, based on the hypothesis that the downstream effects of Akt through inhibition of mTOR may enhance the effectiveness of the EGFR-TKI in patients with recurrent/metastatic HNSCC. PATIENTS AND METHODS: Patients with histologically or cytologically confirmed platinum-resistant HNSCC received everolimus 5 mg and erlotinib 150 mg daily orally until disease progression, intolerable toxicity, investigator or patient decision. Cytokines and angiogenic factors profile, limited mutation analysis and p16 immunohistochemistry status were included in the biomarker analysis. RESULTS: Of the 35 assessable patients, 3 (8%) achieved partial response at 4 weeks, 1 confirmed at 12 weeks; overall response rate at 12 weeks was 2.8%. Twenty-seven (77%) patients achieved disease stabilization at 4 weeks, 11 (31%) confirmed at 12 weeks. Twelve-week progression-free survival (PFS) was 49%, median PFS 11.9 weeks and median overall survival (OS) 10.25 months. High neutrophil gelatinase lipocalin (P = 0.01) and vascular endothelial growth factor (VEGF) (P = 0.04) plasma levels were significantly associated with worse OS. CONCLUSIONS: The combination of erlotinib and everolimus did not show significant benefit in unselected patients with platinum-resistant metastatic HNSCC despite a manageable toxicity profile. Markers of tumor invasion and hypoxia identify a group of patients with particularly poor prognosis. CLINICAL TRIAL NUMBER: NCT00942734.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Carcinoma, Squamous Cell/drug therapy , Drug Resistance, Neoplasm/drug effects , Head and Neck Neoplasms/drug therapy , Neoplasm Recurrence, Local/drug therapy , Salvage Therapy , Administration, Oral , Carcinoma, Squamous Cell/mortality , Carcinoma, Squamous Cell/secondary , Erlotinib Hydrochloride/administration & dosage , Everolimus/administration & dosage , Female , Follow-Up Studies , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/pathology , Humans , Male , Neoplasm Recurrence, Local/mortality , Neoplasm Recurrence, Local/pathology , Neoplasm Staging , Platinum/administration & dosage , Prognosis , Survival Rate
11.
J Hazard Mater ; 289: 118-129, 2015 May 30.
Article in English | MEDLINE | ID: mdl-25723886

ABSTRACT

Use of gas-phase amendments for in situ remediation of inorganic contaminants in unsaturated sediments of the vadose zone may be advantageous, but there has been limited development and testing of gas remediation technologies. Treatment with ammonia gas has a potential for use in treating inorganic contaminants (such as uranium) because it induces a high pore-water pH, causing mineral dissolution and subsequent formation of stable precipitates that decrease the mobility of some contaminants. For field application of this treatment, further knowledge of ammonia transport in porous media and the geochemical reactions induced by ammonia treatment is needed. Laboratory studies were conducted to support calculations needed for field treatment design, to quantify advective and diffusive ammonia transport in unsaturated sediments, to evaluate inter-phase (gas/sediment/pore water) reactions, and to study reaction-induced pore-water chemistry changes as a function of ammonia delivery conditions, such as flow rate, gas concentration, and water content. Uranium-contaminated sediment was treated with ammonia gas to demonstrate U immobilization. Ammonia gas quickly partitions into sediment pore water and increases the pH up to 13.2. Injected ammonia gas advection front movement can be reasonably predicted by gas flow rate and equilibrium partitioning. The ammonia gas diffusion rate is a function of the water content in the sediment. Sodium, aluminum, and silica pore-water concentrations increase upon exposure to ammonia and then decline as aluminosilicates precipitate when the pH declines due to buffering. Up to 85% of the water-leachable U was immobilized by ammonia treatment.


Subject(s)
Ammonia/analysis , Geologic Sediments/analysis , Computer Simulation , Diffusion , Environmental Restoration and Remediation , Gases , Metals, Heavy/isolation & purification , Uranium/isolation & purification , Water/analysis
12.
Haemophilia ; 21(3): 392-397, 2015 May.
Article in English | MEDLINE | ID: mdl-25622659

ABSTRACT

Haemophilia A is an X-linked bleeding disorder caused by heterogeneous mutations in the F8 gene. Two inversion hotspots in intron 22 and intron 1, as well as point mutations, small insertions and deletions in the F8 gene account for causal mutations leading to severe haemophilia A. Rarely, novel molecular mechanisms lead to a haemophilia A phenotype which cannot be completely characterized by routine molecular diagnostic methods. Here, we characterized the molecular abnormality in a boy with a severe haemophilia A phenotype. On investigation by PCR and DNA sequencing, exon 18 of F8 repeatedly failed to amplify. However, analysis by multiplex ligation-dependent probe amplification demonstrated the presence of exon 18 sequence, suggesting a more complex rearrangement than a single exon deletion. The analysis of exon 18 and its flanking regions by inverse PCR revealed a complex mutation comprising insertions of extragenic sequences from Xq28 along with a partial duplication of exon 18. Based on the successful analysis and characterization of the familial breakpoint, we developed a PCR-based diagnostic approach to detect this defect in family members in whom no diagnostic test could be offered until this time.


Subject(s)
Chromosome Breakpoints , Factor VIII/genetics , Genetic Testing , Hemophilia A/diagnosis , Hemophilia A/genetics , Child , Chromosomes, Human, X , DNA Mutational Analysis , Exons , Genetic Testing/methods , Humans , Male , Multiplex Polymerase Chain Reaction , Mutagenesis, Insertional , Mutation , Pedigree , Polymerase Chain Reaction , Severity of Illness Index
13.
J R Army Med Corps ; 161(1): 64-6, 2015 Mar.
Article in English | MEDLINE | ID: mdl-24302119

ABSTRACT

Parotid fistula is a rare but very distressing sequelum of post-operative or traumatic injuries. The management of these injuries has been reported in the literature previously and techniques employed include pressure dressings, surgery and more recently botulinum toxin A (BTA) injections. We present a patient who developed a parotid fistula as a late complication of an extensive gunshot injury to the face with subsequent successful management with ultrasound-guided intraglandular injections of BTA. This case demonstrates that the BTA injection is an effective and safe method under ultrasound guidance and should considered as a first-line treatment option for the treatment of salivary fistulas.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Fistula/diagnostic imaging , Fistula/drug therapy , Neurotoxins/therapeutic use , Parotid Gland/diagnostic imaging , Ultrasonography, Interventional , Facial Injuries/complications , Facial Injuries/surgery , Fistula/etiology , Humans , Male , Middle Aged , Wounds, Gunshot/complications , Wounds, Gunshot/surgery
14.
Scand J Med Sci Sports ; 24(4): e299-305, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24422638

ABSTRACT

The aim of this study was to determine whether declines in knee flexor strength following overground repeat sprints were related to changes in hamstrings myoelectrical activity. Seventeen recreationally active men completed maximal isokinetic concentric and eccentric knee flexor strength assessments at 180°/s before and after repeat sprint running. Myoelectrical activity of the biceps femoris (BF) and medial hamstrings (MHs) was measured during all isokinetic contractions. Repeated measures mixed model [fixed factors = time (pre- and post-repeat sprint) and leg (dominant and nondominant), random factor = participants] design was fitted with the restricted maximal likelihood method. Repeat sprint running resulted in significant declines in eccentric, and concentric, knee flexor strength (eccentric = 26 ± 4 Nm, 15% P < 0.001; concentric 11 ± 2 Nm, 10% P < 0.001). Eccentric BF myoelectrical activity was significantly reduced (10%; P = 0.035). Concentric BF and all MH myoelectrical activity were not altered. The declines in maximal eccentric torque were associated with the change in eccentric BF myoelectrical activity (P = 0.013). Following repeat sprint running, there were preferential declines in the myoelectrical activity of the BF, which explained declines in eccentric knee flexor strength.


Subject(s)
Muscle Weakness/physiopathology , Muscle, Skeletal/physiology , Running/physiology , Adult , Electromyography , Exercise Test , Humans , Male , Muscle Contraction , Random Allocation , Thigh , Torque , Young Adult
15.
J Genet Couns ; 23(1): 64-71, 2014 Feb.
Article in English | MEDLINE | ID: mdl-23723048

ABSTRACT

We established a general genetic counseling clinic (GCC) to help reduce long wait times for new patient appointments and to enhance services for a subset of patients. Genetic counselors, who are licensed in Tennessee, were the primary providers and MD geneticists served as medical advisors. This article describes the clinic referral sources, reasons for referral and patient dispositions following their GCC visit(s). We obtained patients by triaging referrals made to our medical genetics division. Over 24 months, our GCC provided timely visits for 321 patients, allowing the MD geneticists to focus on patients needing a clinical exam and/or complex medical management. Following their GCC visit(s), over 80 % of patients did not need additional appointments with an MD geneticist. The GCC allowed the genetic counselor to spend more time with patients than is possible in our traditional medical genetics clinic. Patient satisfaction surveys (n = 30) were very positive overall concerning the care provided. Added benefits for the genetic counselors were increased professional responsibility, autonomy and visibility as health care providers. We conclude that genetic counselors are accepted as health care providers by patients and referring providers for a subset of clinical genetics cases. A GCC can expand genetic services, complement more traditional genetic clinic models and utilize the strengths of the genetic counselor health care provider.


Subject(s)
Genetic Counseling/organization & administration , Data Collection , Health Services Needs and Demand , Humans , Models, Theoretical , Patient Satisfaction
17.
Pharmacogenomics J ; 13(3): 218-26, 2013 Jun.
Article in English | MEDLINE | ID: mdl-22310353

ABSTRACT

Management of severe sepsis, an acute illness with high morbidity and mortality, suffers from the lack of effective biomarkers and largely empirical predictions of disease progression and therapeutic responses. We conducted a genome-wide association study using a large randomized clinical trial cohort to discover genetic biomarkers of response to therapy and prognosis utilizing novel approaches, including combination markers, to overcome limitations of single-marker analyses. Sepsis prognostic models were dominated by clinical variables with genetic markers less informative. In contrast, evidence for gene-gene interactions were identified for sepsis treatment responses with genetic biomarkers dominating models for predicting therapeutic responses, yielding candidates for replication in other cohorts.


Subject(s)
Biomarkers, Pharmacological , Genetic Markers , Protein C/genetics , Sepsis/drug therapy , Sepsis/genetics , Disease Progression , Epistasis, Genetic , Genome-Wide Association Study , Humans , Polymorphism, Single Nucleotide , Prognosis , Randomized Controlled Trials as Topic , Recombinant Proteins/genetics , Sepsis/pathology
18.
J Vis Exp ; (67)2012 Sep 10.
Article in English | MEDLINE | ID: mdl-22987140

ABSTRACT

Electrospinning is an effective processing method for preparing nanofibers decorated with functional groups. Nanofibers decorated with functional groups may be utilized to study material-biomarker interactions i.e. act as biosensors with potential as single molecule detectors. We have developed an effective approach for preparing functional polymers where the functionality has the capacity of specifically binding with a model protein. In our model system, the functional group is 2,4-dinitrophenyl (DNP) and the protein is anti-DNP IgE (Immunoglobulin E). The functional polymer, α,ω-bi[2,4-dinitrophenyl caproic][poly(ethylene oxide)-b-poly(2-methoxystyrene)-b-poly(ethylene oxide)] (CDNP-PEO-P2MS-PEO-CDNP), is prepared by anionic living polymerization. The difunctional initiator utilized in the polymerization was prepared by electron transfer reaction of α-methylstyrene and potassium (mirror) metal. The 2-methoxystyrene monomer was added first to the initiator, followed by the addition of the second monomer, ethylene oxide, and finally the living polymer was terminated by methanol. The α,ω-dihydroxyl polymer [HO-PEO-P2MS-PEO-OH] was reacted with N-2,4-DNP-∈-amino caproic acid, by DCC coupling, resulting in the formation of α,ω-bi[2,4-dinitrophenylcaproic][poly(ethyleneoxide)-b-poly(2-methoxystyrene)-b-poly(ethylene oxide)] (CDNP-PEO-P2MS-PEO-CDNP). The polymers were characterized by FT-IR, (1)H NMR and Gel Permeation Chromatography (GPC). The molecular weight distributions of the polymers were narrow (1.1-1.2) and polymers with molecular weights greater than 50,000 was used in this study. The polymers were yellow powders and soluble in tetrahydrofuran. A water soluble CDNP-PEO-P2MS-PEO-CDNP/ DMEG (dimethoxyethylene glycol) complex binds and achieves steady state binding with solution IgE within a few seconds. Higher molecular weight (water insoluble i.e. around 50,000) CDNP-PEO-P2MS-PEO-CDNP polymers, containing 1% single wall carbon nanotubes (SWCNT) were processed into electroactive nanofibers (100 nm to 500 nm in diameter) on silicon substrate. Fluorescence spectroscopy shows that anti-DNP IgE interacts with the nanofibers by binding with the DNP functional groups decorating the fibers. These observations suggest that appropriately functionalized nanofibers hold promise for developing biomarker detection device.


Subject(s)
Nanofibers/chemistry , Nanotechnology/methods , Polymers/chemical synthesis , Dinitrobenzenes/chemistry , Immunoglobulin E/chemistry , Polyethylene Glycols/chemistry , Polymers/chemistry , Polystyrenes/chemistry , Spectroscopy, Fourier Transform Infrared
19.
AJNR Am J Neuroradiol ; 32(11): 2126-31, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21960492

ABSTRACT

BACKGROUND AND PURPOSE: ECD is a rare non-Langerhans-cell histiocytosis, which can involve the CNS; therefore, CNS imaging findings have been described in only a small number of patients. To gain additional insight into the CNS manifestations of ECD, we reviewed the findings on imaging of the brain, head and neck, and spine in patients with ECD who presented to our institution. Here, we illustrate manifestations that have not, to our knowledge, been previously described. MATERIALS AND METHODS: CT, MR imaging, and PET/CT studies of the brain, maxillofacial region, and spine were reviewed in 11 patients with ECD. RESULTS: Four new manifestations of ECD were present, including the following: a stellate appearance of intracranial extra-axial lesions, ependymal enhancement along the lateral ventricle with deep linear extension to the lentiform nucleus, irregular enhancement in the pons, and diffuse involvement of the vertebral column on PET/CT. CONCLUSIONS: ECD has a variety of imaging appearances in the CNS, including new manifestations described herein. Neuroradiologists should be aware of these manifestations to avoid mistaking them for other disease processes.


Subject(s)
Brain Diseases/diagnosis , Diagnostic Imaging/methods , Erdheim-Chester Disease/diagnosis , Maxillofacial Abnormalities/diagnosis , Spinal Diseases/diagnosis , Adult , Aged , Female , Humans , Male , Middle Aged , Rare Diseases
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