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1.
Exp Dermatol ; 33(2): e15035, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38389191

RESUMO

Epidermolysis bullosa (EB) is a heritable skin blistering disease caused by variants in genes coding for proteins that secure cell-cell adhesion and attachment of the epidermis to the dermis. Interestingly, several proteins involved in inherited EB are also associated with autoimmune blistering diseases (AIBD). In this study, we present a long-term follow-up of 15 patients suffering from recessive dystrophic or junctional EB. From these patients, 62 sera were analysed for the presence of autoantibodies associated with AIBD. We show that patients suffering from recessive dystrophic EB (RDEB) are more susceptible to developing autoantibodies against skin proteins than patients suffering from junctional EB (70% vs. 20%, respectively). Interestingly, no correlation with age was observed. Most patients showed reactivity to Type XVII collagen/linear IgA bullous dermatosis autoantigen (n = 5; 33%), followed by BP230 (n = 4; 27%), Type VII collagen (n = 4; 27%) and laminin-332 (n = 1; 7%). The pathogenicity of these autoantibodies remains a subject for future experiments.


Assuntos
Doenças Autoimunes , Epidermólise Bolhosa Distrófica , Epidermólise Bolhosa Juncional , Epidermólise Bolhosa , Humanos , Epidermólise Bolhosa Distrófica/genética , Autoanticorpos , Pele/metabolismo , Epidermólise Bolhosa/metabolismo , Epidermólise Bolhosa Juncional/genética
2.
J Fish Biol ; 90(3): 1070-1079, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27859230

RESUMO

Assigning relative importance of spawning and nursery habitats for threatened and endangered teleosts, such as those seen in the Gulf of Mexico (GoM), relies on the proper identification of the early life-history stages of the species of concern. Here, sequencing a portion of the mitochondrial DNA (mtDNA) control region (CR) I as barcodes is recommended to identify istiophorid (billfish) larvae in the Atlantic Ocean because of its high resolution and the intrinsic value of the levels of genetic variation that can be extracted from these data. The universality of the primers employed here demonstrates their utility for not only the positive identification of istiophorids in the GoM, but for any larval teleost occurring in areas recognized as larval hotspots worldwide.


Assuntos
DNA Mitocondrial/genética , Peixes/genética , Variação Genética , Animais , Oceano Atlântico , Primers do DNA , Peixes/classificação , Golfo do México , Larva/classificação , Larva/genética , Estágios do Ciclo de Vida/genética , Estágios do Ciclo de Vida/fisiologia , Análise de Sequência de DNA , Especificidade da Espécie
3.
Br J Dermatol ; 174(6): 1375-1379, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26708078

RESUMO

Mutations in the COL17A1 gene lead to the genetic blistering disorder junctional epidermolysis bullosa generalized intermediate type (JEB-gen-intermed). Antisense oligonucleotide-mediated exon skipping is a strategy that aims to skip the mutation-containing exon and thereby produce a smaller but functional protein. COL17A1 is an interesting candidate, as 53 of the 55 exons (96%) can be skipped without disturbing the reading frame. Information on the functionality of the shortened protein product is important in order to obtain support for this therapeutic strategy. Here we report a patient with JEB-gen-intermed with amelioration of the phenotype due to exon 49 skipping by two distinct mechanisms - premature termination codon-induced exon skipping and revertant mosaicism - both of which induced skipping of the same exon. The patient was compound heterozygous for two inherited COL17A1 mutations, a frameshift mutation in exon 18 (c.1490_1491delinsT, p.Ala497Valfs*23) and a nonsense mutation in exon 49 (c.3487G>T, p.Glu1163Ter). Upon clinical examination, skin patches were found that were resistant to blister formation. In these patches, naturally corrected cells were present that harboured an additional splice-site mutation, c.3419-1G>T, resulting in skipping of the mutation-containing exon 49. This natural gene therapy phenomenon shows that type XVII collagen with residues 1140-1169 deleted is largely functional. In addition, in affected skin cells a low level of exon 49 skipping was observed. Our results support the notion that skipping of a mutated in-frame exon in COL17A1 ameliorates the phenotype.

6.
J Fish Biol ; 84(1): 267-72, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24383811

RESUMO

A rapid non-destructive alternative to isolate DNA from an individual fish larva is presented, based on the suspension of epithelial cells through vortex forces, and the release of DNA in a heated alkaline solution. DNA from >6056 fish larvae isolated using this protocol has yielded a high PCR amplification success rate (>93%), suggesting its applicability to other taxonomic groups or sources when tissue amount is the limiting factor.


Assuntos
DNA/isolamento & purificação , Peixes , Reação em Cadeia da Polimerase/métodos , Animais , Células Epiteliais , Larva/genética , Manejo de Espécimes/métodos
7.
Eur Phys J C Part Fields ; 83(6): 467, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37303462

RESUMO

The ICARUS collaboration employed the 760-ton T600 detector in a successful 3-year physics run at the underground LNGS laboratory, performing a sensitive search for LSND-like anomalous νe appearance in the CERN Neutrino to Gran Sasso beam, which contributed to the constraints on the allowed neutrino oscillation parameters to a narrow region around 1 eV2. After a significant overhaul at CERN, the T600 detector has been installed at Fermilab. In 2020 the cryogenic commissioning began with detector cool down, liquid argon filling and recirculation. ICARUS then started its operations collecting the first neutrino events from the booster neutrino beam (BNB) and the Neutrinos at the Main Injector (NuMI) beam off-axis, which were used to test the ICARUS event selection, reconstruction and analysis algorithms. ICARUS successfully completed its commissioning phase in June 2022. The first goal of the ICARUS data taking will be a study to either confirm or refute the claim by Neutrino-4 short-baseline reactor experiment. ICARUS will also perform measurement of neutrino cross sections with the NuMI beam and several Beyond Standard Model searches. After the first year of operations, ICARUS will search for evidence of sterile neutrinos jointly with the Short-Baseline Near Detector, within the Short-Baseline Neutrino program. In this paper, the main activities carried out during the overhauling and installation phases are highlighted. Preliminary technical results from the ICARUS commissioning data with the BNB and NuMI beams are presented both in terms of performance of all ICARUS subsystems and of capability to select and reconstruct neutrino events.

8.
Clin Neuropathol ; 30(1): 33-40, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21176716

RESUMO

BACKGROUND: The erythropoietin receptor (EpoR) is expressed widely throughout the human CNS, including the choroid plexus. Recent studies have shown that EpoR is also expressed in various human tumors, including carcinomas, meningiomas and gliomas. Thereby, the Epo-EpoR pathway plays a role in inhibition of apoptosis and tumor growth, infiltration, angiogenesis and metastasis as well as treatment resistance and is a potential target in oncological treatment. Lower levels of EpoR have been associated with shorter survival in high grade gliomas and higher risk of tumor recurrence in meningiomas. METHODS: Since the EpoR status in human choroid plexus tumors (CPT) is not known, we investigated 57 CPT from 43 cases including 14 recurrent tumors and compared them with 23 samples of normal choroid plexus (CP). CPT samples consisted of choroid plexus papillomas/CPP (n = 41), atypical CPP (n = 15) and choroid plexus carcinoma/CPC (n = 1). EpoR expression was determined by immunohistochemistry using semi-quantitative scoring for staining intensity and was validated in exemplary cases using western blot and RT-PCR. RESULTS: EpoR expression was observed in all samples of normal and neoplastic CP with significantly lower expression levels in CPT (p < 0.001). CONCLUSION: No significant correlation was found between EpoR expression and age, gender, WHO grade, number of mitosis or tumor recurrence. EpoR expression in CPT is in line with its expression in normal CP and with previous reports on EpoR expression in other glial neoplasms. Association of EpoR levels in CPT with survival, as known in astrocytic gliomas, remains to be determined.


Assuntos
Neoplasias do Plexo Corióideo/metabolismo , Plexo Corióideo/metabolismo , Receptores da Eritropoetina/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Plexo Corióideo/patologia , Neoplasias do Plexo Corióideo/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Adulto Jovem
9.
Eur J Vasc Endovasc Surg ; 37(4): 486-91, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19119027

RESUMO

UNLABELLED: Endovenous laser ablation (ELA) has become a standard treatment of the incompetent great saphenous vein (GSV). Our prospective audit examines the implementation of this new method in a large community hospital with special attention to obstacles, technical results, pain scores, failures and our learning curve. METHODS: Three hundred and twenty-three patients (403 limbs) with incompetence of the GSV underwent ELA. Patients were assessed by clinical examination and venous duplex ultrasound was performed 6 weeks after operation. Visual analog scale (VAS) pain scores of the first postoperative week were recorded. Operative time and success rate were analysed. RESULTS: After 6 weeks, 301 (74.7%) treated legs were examined by duplex ultrasound imaging. Successful complete occlusion was present in 282 (93.7%) GSVs. Partial occlusion was present in 12 (4.0%) GSVs. In seven (2.3%) limbs the GSV was not occluded. The maximum mean VAS pain score was noted on the 5th postoperative day. From the start of this series, the operation time decreased rapidly for each surgeon, stabilising after 15 limbs. CONCLUSION: ELA of the incompetent GSV is effective and safe. ELA is simple to perform, well accepted by patients and relatively atraumatic. In our opinion, ELA can be easily implemented in surgical practice.


Assuntos
Terapia a Laser/métodos , Varizes/cirurgia , Adolescente , Adulto , Idoso , Feminino , Hospitais Comunitários , Humanos , Masculino , Auditoria Médica , Pessoa de Meia-Idade , Países Baixos , Medição da Dor , Estudos Prospectivos , Veia Safena/diagnóstico por imagem , Veia Safena/cirurgia , Ultrassonografia Doppler Dupla , Ultrassonografia de Intervenção , Varizes/diagnóstico por imagem , Adulto Jovem
10.
BJS Open ; 3(5): 617-622, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31592513

RESUMO

Background: Surgical-site infection (SSI) is a serious surgical complication that can be prevented by preoperative skin disinfection. In Western European countries, preoperative disinfection is commonly performed with either chlorhexidine or iodine in an alcohol-based solution. This study aimed to investigate whether there is superiority of chlorhexidine-alcohol over iodine-alcohol for preventing SSI. Methods: This prospective cluster-randomized crossover trial was conducted in five teaching hospitals. All patients who underwent breast, vascular, colorectal, gallbladder or orthopaedic surgery between July 2013 and June 2015 were included. SSI data were reported routinely to the Dutch National Nosocomial Surveillance Network (PREZIES). Participating hospitals were assigned randomly to perform preoperative skin disinfection using either chlorhexidine-alcohol (0·5 per cent/70 per cent) or iodine-alcohol (1 per cent/70 per cent) for the first 3 months of the study; every 3 months thereafter, they switched to using the other antiseptic agent, for a total of 2 years. The primary endpoint was the development of SSI. Results: A total of 3665 patients were included; 1835 and 1830 of these patients received preoperative skin disinfection with chlorhexidine-alcohol or iodine-alcohol respectively. The overall incidence of SSI was 3·8 per cent among patients in the chlorhexidine-alcohol group and 4·0 per cent among those in the iodine-alcohol group (odds ratio 0·96, 95 per cent c.i. 0·69 to 1·35). Conclusion: Preoperative skin disinfection with chlorhexidine-alcohol is similar to that for iodine-alcohol with respect to reducing the risk of developing an SSI.


Antecedentes: La infección del sitio quirúrgico (surgical site infection, SSI) es una complicación quirúrgica grave que se puede prevenir mediante una desinfección cutánea preoperatoria. En los países de Europa occidental, la desinfección preoperatoria se realiza habitualmente usando clorhexidina o yodo en una solución a base de alcohol. Nuestro objetivo fue investigar si la clorhexidina alcohólica es superior al yodo con alcohol para prevenir la SSI. Métodos: Este ensayo prospectivo aleatorizado por conglomerados y de grupos cruzados se realizó en cinco hospitales docentes. Se incluyeron todos los pacientes que se sometieron a cirugía mamaria, vascular, colorrectal, biliar y ortopédica entre julio de 2013 y junio de 2015. Los datos de SSI se presentaron de manera rutinaria a la Red Nacional Holandesa de Vigilancia Nosocomial (PREZIES). Los hospitales participantes fueron asignados al azar para realizar una desinfección cutánea preoperatoria con clorhexidina alcohólica (0,5%/70%) o yodo con alcohol (1%/70%) durante los primeros tres meses del estudio; cada 3 meses a partir de entonces, cambiaron a usar el otro agente antiséptico, durante un total de 2 años. El criterio de valoración principal fue el desarrollo de SSI. Resultados: Se incluyeron un total de 3.665 pacientes; 1.835 y 1.830 de estos pacientes recibieron desinfección cutánea preoperatoria con clorhexidina alcohólica o yodo con alcohol, respectivamente. La incidencia global de SSI fue del 3,8% entre los pacientes en el grupo de clorhexidina alcohólica y del 4,0% entre los pacientes en el grupo de yodo con alcohol (razón de oportunidades, odds ratio, OR 0,96; i.c. del 95%: 0,69­1,35). Conclusión: La desinfección cutánea preoperatoria con clorhexidina alcohólica es similar al yodo con alcohol con respecto a la reducción del riesgo de desarrollar una SSI.


Assuntos
Anti-Infecciosos Locais/farmacologia , Clorexidina/farmacologia , Etanol/farmacologia , Iodo/farmacologia , Pele/efeitos dos fármacos , Infecção da Ferida Cirúrgica/prevenção & controle , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Cross-Over , Desinfecção/métodos , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Cuidados Pré-Operatórios/métodos , Estudos Prospectivos , Pele/microbiologia , Infecção da Ferida Cirúrgica/epidemiologia
11.
Urologe A ; 57(2): 155-163, 2018 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-28707096

RESUMO

BACKGROUND: Using the CE mark of therapeutic appliances is, on its own, not sufficient enough for their appropriate and effective application. In order to treat the patient successfully, not jeopardizing the success of the treatment, medical quality criteria for therapeutic appliances care are necessary to acceptably compensate for a patient's disabilities. OBJECTIVES: Medical quality criteria are formulated for the most frequently used urological aids and devices, considering hygienic requirements, international literature and the practical experience of physicians and nurses with regard to the care of patients with neurogenic urinary bladder dysfunction. METHODS: An expert group of urologists, surgeons, rehabilitation physicians and nurses has developed medical quality criteria via a structured consensus procedure. Developing these criteria, the group has taken into account current jurisprudence, the current resource directory of neurourological relevant aids, data from international literature and hygiene requirements. RESULTS: Medical quality requirements are discussed and defined for selected groups of urological devices (single use catheters, indwelling catheters, external catheters, urine bags, templates and diapers as well as devices for the electrostimulation of nerves). CONCLUSION: The presented quality requirements offer the possibility to stabilize quality of care with neurourological relevant therapeutic appliances. The catalogue of therapeutic appliances must be urgently updated. Urinal catheters for single use must be classified as an individual product group. Devices for anterior root stimulation and neuromodulation must be included in the resource directory. The incontinence severity classification needs to be reviewed.


Assuntos
Cateteres de Demora/normas , Bexiga Urinaria Neurogênica/reabilitação , Cateteres Urinários/normas , Consenso , Humanos , Incontinência Urinária
12.
PLoS One ; 13(2): e0191544, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29420567

RESUMO

OBJECTIVES: Shiga-toxin producing O157:H7 Entero Haemorrhagic E. coli [STEC/EHEC] are the most common cause of Haemolytic Uraemic Syndrome [HUS] related to infectious haemorrhagic colitis. Nearly all recommendations on long term treatment of EHEC infections refer to this strain. The 2011 outbreak in Northern Europe was the first of this dimension to be caused by the serotype O104:H4. We report on the 3.5 year follow up of 61 patients diagnosed with symptomatic EHEC O104:H4 infection in spring 2011. METHODS: Patients with EHEC O104 infection were followed in a monocentric, prospective observational study at four time points: 4, 12, 24 and 36 months. These data include the patients' histories, clinical findings, and complications. RESULTS: Sixty-one patients suffering from EHEC O104:H4 associated enterocolitis participated in the study at the time of hospital discharge. The mean age of patients was 43 ± 2 years, 37 females and 24 males. 48 patients participated in follow up 1 [FU 1], 34 patients in follow up 2 [FU 2], 23 patients in follow up 3 [FU 3] and 18 patients in follow up 4 [FU 4]. Out of 61 patients discharged from the hospital and included in the study, 54 [84%] were examined at least at one additional follow up. Serum creatinine decreased significantly between discharge and FU 1 from 1.3 ± 0.1 mg/dl to 0.7 ± 0.1 mg/dl [p = 0.0045]. From FU 1 until FU 4, no further change in creatinine levels could be observed. The patients need of antihypertensive medications decreased significantly [p = 0.0005] between discharge and FU 1 after four months. From FU 1 until FU 3, 24 months later, no further significant change in antihypertensive treatment was observed. CONCLUSIONS: Our findings suggest that patients free of pathological findings at time of discharge do not need a specific follow up. Patients with persistent health problems at hospital discharge should be clinically monitored over four months to evaluate chronic organ damage. Progressive or new emerging renal damage could not be observed over time in any patient.


Assuntos
Escherichia coli Êntero-Hemorrágica/patogenicidade , Infecções por Escherichia coli/terapia , Adulto , Infecções por Escherichia coli/microbiologia , Infecções por Escherichia coli/patologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento
13.
Urologe A ; 46(3): 293-6, 2007 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-17295036

RESUMO

Due to elevated intravesical storage pressures, neurogenic bladder dysfunction carries a high risk of renal damage. Thus, the goals of neurourologic treatment are reduction of intravesical storage pressure and intermittent bladder emptying in order to protect renal function and to achieve continence. If anticholinergic medication is either ineffective or intolerable, several open and controlled studies showed that the injection of botulinum toxin A into the detrusor muscle is a minimally invasive, safe, and effective treatment option. These studies demonstrated an effective reduction of storage pressures and a significant increase in bladder capacity. The effect has been shown to last up to a year. As this treatment is not approved by European administrations, botulinum toxin A treatment fulfills all criteria for "justified off-label use." The reduction of intravesical storage pressure leads to an improvement of life expectancy due to upper urinary tract protection. Furthermore, quality of life can be improved by low incidence of urinary tract infections, secure continence, and physiologic catheterization intervals.


Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Guias de Prática Clínica como Assunto , Padrões de Prática Médica/normas , Bexiga Urinaria Neurogênica/tratamento farmacológico , Bexiga Urinaria Neurogênica/prevenção & controle , Alemanha , Humanos
14.
Ned Tijdschr Geneeskd ; 151(17): 960-5, 2007 Apr 28.
Artigo em Holandês | MEDLINE | ID: mdl-17520848

RESUMO

Varicose veins are very common. For years the most commonly applied treatment for great saphenous vein (GSV) insufficiency was saphenofemoral junction ligation with saphenous vein stripping. Minimally invasive methods, such as the endovenous laser therapy, are increasingly used during the last few years. In endovenous laser therapy, a diode laser fibre is inserted percutaneously into the GSV using ultrasonography to confirm the position. Thermal laser energy is applied to the endothelium ofthe GSV, resulting in local venous occlusion. The procedure has rapidly become popular with clinicians who treat varicose veins due to its relative simplicity and high rate of patient satisfaction. Efficacy outcomes are good with an occlusion rate of up to 100%. Recanalisation is rarely occurring even after several years. Pain, haematoma and phlebitis are common adverse events associated with endovenous laser therapy but in most cases are self-limiting. Serious adverse events, such as deep vein thrombosis, are uncommon. The advantages ofendovenous laser therapy are the lack of surgical wounds, so infection and scarring are avoided, and that the procedure can be performed in an outpatient setting using local anaesthesia. Endovenous laser therapy appears to be a safe and effective treatment option for refluxing varicose veins.


Assuntos
Terapia a Laser/métodos , Perna (Membro)/irrigação sanguínea , Veia Safena/cirurgia , Varizes/cirurgia , Humanos , Resultado do Tratamento
15.
Urologe A ; 56(6): 785-792, 2017 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-28314966

RESUMO

BACKGROUND: Most patients with spinal cord injury (SCI) suffer from neurogenic lower urinary tract dysfunction (NLUTD), bowel dysfunction and sexual dysfunction. If these remain untreated, severe medical complications and serious limitations (restrictions) in quality of life are imminent. OBJECTIVES: In the long term, there are considerable differences in the treatment results of highly specialized centers versus other treatment facilities. MATERIALS AND METHODS: Against this background, a consensus-based guideline, according to the AWMF (Association of the Scientific Medical Societies in Germany) criteria (S2k), was developed by the neuro-urology working group of the DMPG (German-Speaking Medical Society of Paraplegia). RESULTS: The guideline defines the principles and objectives of the neuro-urological care of patients with SCI and discusses in detail the principles of diagnosis and therapy of NLUTD. The need for video-urodynamic studies as a basis for the classification of the NLUTD and as a foundation for the development of a treatment strategy is emphasized. Both conservative and surgical therapy options and their indications are explained in detail. Possible complications and their prevention in the long-term course of SCI are presented with a particular consideration of the specific features of urinary tract infections and autonomic dysreflexia. Finally, the principles of the provision of urological appliances are discussed. CONCLUSIONS: The presented S2k guideline provides the current standards in the neuro-urological care of patients with NLUTD due to SCI. Their consistent implementation both in the acute and chronic phase as well as in the context of lifelong surveillance of SCI patients should prevent the impending complications of NLUTD.


Assuntos
Técnicas de Diagnóstico Neurológico/normas , Técnicas de Diagnóstico Urológico/normas , Guias de Prática Clínica como Assunto , Traumatismos da Medula Espinal/diagnóstico , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Urologia/normas , Diagnóstico Diferencial , Medicina Baseada em Evidências , Alemanha , Humanos , Traumatismos da Medula Espinal/complicações , Resultado do Tratamento
16.
Plant Biol (Stuttg) ; 8(5): 731-6, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16773556

RESUMO

Signalling pathways involving histidine kinase receptors (HKRs) are widely used by prokaryotes and fungi to regulate a large palette of biological processes. In plants, HKRs are known to be implicated in cytokinin, ethylene, and osmosensing transduction pathways. In this work, a full length cDNA named CRCIK was isolated from the tropical species CATHARANTHUS ROSEUS (L.) G. Don. It encodes a 1205 amino acid protein that belongs to the hybrid HKR family. The deduced amino acid sequence shows the highest homology with AtHK1, an osmosensing HKR in ARABIDOPSIS THALIANA. In return, CrCIK protein shares very low identity with the other 10 ARABIDOPSIS HKRs. Southern blot analysis indicates that the CRCIK corresponding gene is either present in multiple copies or has very close homologues in the genome of the tropical periwinkle. The gene is widely expressed in the plant. In C. ROSEUS C20D cell suspension, it is slightly induced after exposure to low temperature, pointing to a putative role in cold-shock signal transduction.


Assuntos
Catharanthus/enzimologia , Catharanthus/genética , DNA Complementar/genética , Proteínas Quinases/metabolismo , Receptores de Superfície Celular/genética , Receptores de Superfície Celular/metabolismo , Clonagem Molecular , DNA de Plantas/genética , Regulação Enzimológica da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Histidina Quinase , Dados de Sequência Molecular , Filogenia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo
17.
Prog Lipid Res ; 40(4): 231-68, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11412891

RESUMO

A selection of amphipatic hyper- and hypolipidemic fatty acid derivatives (fibrates, thia- and branched chain fatty acids) are reviewed. They are probably all ligands for the peroxisome proliferation activation receptor (PPARalpha) which has a low selectivity for its ligands. These compounds give hyper- or hypolipidemic responses depending on their ability to inhibit or stimulate mitochondrial fatty acid oxidation in the liver. The hypolipidemic response is explained by the following metabolic effects: Lipoprotein lipase is induced in liver where it is normally not expressed. Apolipoprotein CIII is downregulated. These two effects in liver lead to a facilitated (re)uptake of chylomicrons and VLDL, thus creating a direct transport of fatty acids from the gut to the liver. Fatty acid metabolizing enzymes in the liver (CPT-I and II, peroxisomal and mitochondrial beta-oxidation enzymes, enzymes of ketogenesis, and omega-oxidation enzymes) are induced and create an increased capacity for fatty acid oxidation. The increased oxidation of fatty acids "drains" fatty acids from the body, reduces VLDL formation, and ultimately explains the antiadiposity and improved insulin sensitivity observed after administration of peroxisome proliferators.


Assuntos
Ácidos Graxos/metabolismo , Hiperlipidemias/metabolismo , Hipolipemiantes/metabolismo , Obesidade/metabolismo , Animais , Apolipoproteína C-III , Apolipoproteínas C/metabolismo , Carnitina O-Palmitoiltransferase/metabolismo , Quilomícrons/metabolismo , Clofibrato/metabolismo , Ativação Enzimática , Ácidos Graxos não Esterificados/metabolismo , Ácidos Graxos Ômega-3/metabolismo , Glicerol-3-Fosfato O-Aciltransferase/metabolismo , Humanos , Resistência à Insulina , Lipoproteínas VLDL/metabolismo , Fígado/metabolismo , Mitocôndrias/metabolismo , Oxirredução , Peroxissomos/metabolismo , Ligação Proteica , Receptores Citoplasmáticos e Nucleares/metabolismo , Especificidade da Espécie , Fatores de Transcrição/metabolismo , Triglicerídeos/metabolismo
18.
Eat Weight Disord ; 11(2): e53-6, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16809970

RESUMO

Several case reports and open label trials describe olanzapine in the treatment of anorexia nervosa (AN). We report 5 adolescents with AN who received olanzapine in addition to psychotherapy for their eating disorder. Body mass index (BMI) of each case increased while on olanzapine. At doses of 5 mg per day and above, patients reported decreased anxiety around eating, improved sleep, and decreased rumination about food and body concerns. Morning sedation was the most commonly reported adverse effect. Olanzapine appeared to be useful in addition to psychotherapy for these adolescents. This report augments a limited literature on the treatment of this disorder, and an almost nonexistent literature specific to pharmacotherapy for adolescents with AN.


Assuntos
Anorexia Nervosa/tratamento farmacológico , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Adolescente , Anorexia Nervosa/complicações , Benzodiazepinas/efeitos adversos , Benzodiazepinas/uso terapêutico , Índice de Massa Corporal , Criança , Feminino , Humanos , Masculino , Olanzapina , Psicoterapia , Inibidores Seletivos de Recaptação de Serotonina/efeitos adversos , Transtornos do Sono-Vigília/tratamento farmacológico , Transtornos do Sono-Vigília/etiologia , Resultado do Tratamento
19.
Urologe A ; 55(12): 1553-1563, 2016 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-27725995

RESUMO

BACKGROUND: The provision of urological appliances for patients with neurogenic lower urinary tract dysfunction (NLUTD) is essential. Hitherto existing standard guidelines for the estimation of monthly material requirements are based solely on estimates. OBJECTIVE: The goal of this work was to define the objective and subsequently subjective requirements for urological appliances on a scientifically validated basis. MATERIALS AND METHODS: Data concerning bladder management and daily consumption of urological appliances for patients with NLUTD were collected through a standardized survey at six different centers in Germany during the period of October to December 2014 and statistically evaluated. RESULTS: In all, 767 patient records were analyzed: 543 men and 221 woman (N/A = 3). The daily disposable catheter consumption of 577 patients who exclusively used intermittent catheterization was 5.13. Patients who used other means of bladder emptying (n = 31) in addition to catheterization consumed on average 3.17 catheters. The margin of deviation was larger for children. Of the 608 patients with intermittent catheterization, 94 (15.5 %) required additional paddings as absorbent aids (on average 2.29 paddings per day), 34 patients (5.6 %) additionally used pants (2.55 per day) and 46 patients (7.6 %) utilized condom catheters (3.81 per day) between catheterization. Among all surveyed patients, 126 (16.4 %) used paddings (5.03 per day) and 51 patients (6.6 %) pants (3.03 per day). Of all male respondents 82 (15.1 %) used condom catheters (2.80 urinary sheaths per day). CONCLUSION: Applying twice the standard deviation of the mean as a measure of assessing the objective requirement of urological appliances and aids for adult patients with NLUTD allows the following daily thresholds to be defined: 1-9 disposable catheters, 0-7 urinary sheaths, 1-9 paddings and 0-7 pants. These thresholds can serve as a basis for estimating the subjective need. They allow for a scientifically validated benchmark for an economically feasible and patient-tailored supply with urological aids and appliances. Individually required appliances and aids have to be recognized. Verifiable quality standards need to be developed.


Assuntos
Sintomas do Trato Urinário Inferior/epidemiologia , Sintomas do Trato Urinário Inferior/reabilitação , Bexiga Urinaria Neurogênica/epidemiologia , Bexiga Urinaria Neurogênica/reabilitação , Cateteres Urinários/estatística & dados numéricos , Revisão da Utilização de Recursos de Saúde , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Equipamentos Descartáveis/classificação , Equipamentos Descartáveis/estatística & dados numéricos , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação das Necessidades , Preferência do Paciente/estatística & dados numéricos , Estudos Retrospectivos , Distribuição por Sexo , Resultado do Tratamento , Cateteres Urinários/classificação , Adulto Jovem
20.
Biochim Biophys Acta ; 665(3): 628-31, 1981 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-7295757

RESUMO

The effect of fasting on palmitoyl-CoA: carnitine palmitoyltransferase (EC 2.3.1.21) in rat liver mitochondria and its inhibition by malonyl-CoA has been investigated. The activity of the outer carnitine palmitoyltransferase (transferase I) is nearly doubled after 24 h fasting, while the activity of total carnitine palmitoyltransferase (transferase I + II) increases only about 25%. The inhibition of the increased outer transferase by malonyl-CoA is decreased in fasting rats. The results suggest that carnitine palmitoyltransferase less sensitive to malonyl-CoA is exposed on the outer surface of the inner mitochondrial membrane in fasting, thus reducing the latency of the enzyme.


Assuntos
Acil Coenzima A/farmacologia , Aciltransferases/metabolismo , Carnitina O-Palmitoiltransferase/metabolismo , Malonil Coenzima A/farmacologia , Mitocôndrias Hepáticas/enzimologia , Animais , Jejum , Cinética , Ratos
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