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OBJECTIVE: Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders and to determine the association between the occurrence of gastrointestinal and eating problems and core features of DS. METHODS: Gastrointestinal and eating problems were assessed with a questionnaire in a Dutch cohort of participants with an SCN1A-related seizure disorder. Associations between the number of gastrointestinal and eating problems and core features of DS, seizure severity, level of intellectual disability, impaired mobility, behavioral problems, and use of anti-seizure medication, were explored by multivariate ordinal regression analyses. Symptoms were divided into the categories dysphagia-related, behavioral, and gastrointestinal, and were assessed separately. RESULTS: One hundred sixty-nine participants with an SCN1A-related seizure disorder, of whom 118 (69.8%) with DS and 51 (30.2%) with Generalized Epilepsy with Febrile Seizures Plus / Febrile Seizures (GEFS+/FS), the non-DS phenotype, were evaluated. Gastrointestinal and eating problems were highly prevalent in DS participants, 50.8% had more than three symptoms compared to 3.9% of non-DS participants. Of participants with DS, 17.8% were fully or partly fed by a gastric tube. Within the three different symptom categories, the most prevalent dysphagia-related symptom was drooling (60.7%), distraction during mealtimes (61.4%) the most prevalent behavioral symptom, and constipation and loss of appetite (both 50.4%) the most prevalent gastrointestinal symptoms. DS participants who use a wheelchair (odds ratio (OR) 4.9 95%CI (1.9-12.8) compared to walking without aid), who use ≥3 anti-seizure medications (ASM) (OR 5.9 95%CI (1.9-18.2) compared to <3 ASM) and who have behavioral problems (OR 3.0 95%CI (1.1-8.1) compared to no behavioral problems) had more gastrointestinal and eating problems. CONCLUSION: Gastrointestinal and eating problems are frequently reported symptoms in DS. Distinguishing between symptom categories will lead to tailored management of patients at risk, will improve early detection, and enable a timely referral to a dietitian, behavioral expert, and/or speech therapist, ultimately aiming to improve the quality of life of both patients and caregivers.
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Transtornos de Deglutição , Epilepsias Mioclônicas , Epilepsia , Humanos , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Qualidade de Vida , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Mutação , Epilepsia/complicações , Epilepsia/epidemiologia , Epilepsia/diagnóstico , Epilepsias Mioclônicas/diagnósticoRESUMO
BACKGROUND: Skeletal deformities (SD) in children and adolescents can lead to arthritic conditions, impairment of quality of life, and high treatment costs in the long term. However, comprehensive data on the prevalence of SDs in children and adolescents are limited and it remains therefore unclear whether there is a healthcare gap. "OrthoKids" is a project that addresses this evidence gap by implementing an orthopaedic screening for children and adolescents that supplements existing detection examinations within statutory standard care in Germany. OBJECTIVE: To detect SDs so that they can be treated as needed at an early stage. METHODS: The implementation of the supplementary orthopaedic screening will be evaluated through an exploratory cohort study that is set up in the German state Baden-Wuerttemberg. 20,000 children and adolescents aged 10 to 14 years will be recruited as a prospective cohort. A retrospective control cohort will be formed based on claims data provided by two cooperating statutory health insurances (SHIs). Participating children and adolescents receive a one-time orthopaedic screening. If at least one SD is diagnosed, treatment will be provided as part of the statutory standard care. Within the scope of the project, a follow-up examination will be performed after one year. An IT-platform will complement the study. The primary outcome measure is the point prevalence of scoliosis, genu varum/valgum, hip dysplasia, and flat feet. Secondary outcome measures are (i) the point prevalence of further less common SDs, (ii) health-related quality of life (HRQoL), (iii) sports ability based on activity (physical/athletic), physical constraints, and (sports) injuries, as well as (iv) monetary consequences of the orthopaedic screenings' implementation. Implementation determinants will be evaluated, too. DISCUSSION: If the supplementary orthopaedic screening proves to be viable, it could be considered as a supplementary examination for children and adolescents within the frame of SHI in Germany. This could relieve the burden of disease among children and adolescents with SDs. In addition, it could disburden SHIs in the medium to long term. TRIAL REGISTRATION: The OrthoKids study was registered in the German Clinical Trials Registry (Deutsches Register Klinischer Studien (DRKS)) on 26th July 2022 under the number 00029057.
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Ortopedia , Adolescente , Criança , Humanos , Estudos de Coortes , Alemanha/epidemiologia , Estudos Prospectivos , Qualidade de Vida , Estudos RetrospectivosRESUMO
BACKGROUND: Due to high levels of stress, a practical course on stress management in medical school was offered to preclinical medical students at the Justus-Liebig University in Giessen up to 2019. In addition to autogenic training with specific resolution formulas, learning strategies, examination anxiety, and stress management were taught. OBJECTIVE: The aim was to determine the factors influencing the efficacy of the course as well as predictive factors favoring the success of preventive strategies for medical students. METHODS: A total of 81 medical students with an average age of Mâ¯= 25.4 years participated in this study, with 32.1% being male. The pre-post surveys were conducted anonymously with PSQ, BDI, PHQ9, HADS, SF-12 and the STQLS. RESULTS: With respect to satisfaction, stress, anxiety, and depression, a significant improvement was achieved at high effect levels (Cohen's dâ¯> 1). Initially, 35% of the students suffered from clinically relevant depression; these also showed a significantly higher stress level at the end of the course. This also applies to students with low study or life satisfaction. There were significant interactions of stress reduction depending on the existence of adequate learning techniques as well as anxiety symptoms but less often due to the existence of adequate stress management strategies. CONCLUSION: As predictive factors against a high stress level in medical students, a high study satisfaction and a high life satisfaction as well as low depression values could be confirmed. Relevant factors contributing to the efficacy of the course are learning strategies and coping with examination phobia. Theoretical information concerning stress management was found to be less helpful.
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Estudantes de Medicina , Adaptação Psicológica , Adulto , Ansiedade/diagnóstico , Ansiedade/terapia , Depressão/diagnóstico , Depressão/terapia , Feminino , Humanos , Masculino , Faculdades de Medicina , Estresse Psicológico/diagnóstico , Estresse Psicológico/terapiaRESUMO
A classical nova occurs when material accreting onto the surface of a white dwarf in a close binary system ignites in a thermonuclear runaway. Complex structures observed in the ejecta at late stages could result from interactions with the companion during the common-envelope phase. Alternatively, the explosion could be intrinsically bipolar, resulting from a localized ignition on the surface of the white dwarf or as a consequence of rotational distortion. Studying the structure of novae during the earliest phases is challenging because of the high spatial resolution needed to measure their small sizes. Here we report near-infrared interferometric measurements of the angular size of Nova Delphini 2013, starting one day after the explosion and continuing with extensive time coverage during the first 43 days. Changes in the apparent expansion rate can be explained by an explosion model consisting of an optically thick core surrounded by a diffuse envelope. The optical depth of the ejected material changes as it expands. We detect an ellipticity in the light distribution, suggesting a prolate or bipolar structure that develops as early as the second day. Combining the angular expansion rate with radial velocity measurements, we derive a geometric distance to the nova of 4.54 ± 0.59 kiloparsecs from the Sun.
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BACKGROUND AND PURPOSE: Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome for which treatment response is generally assumed to be good. We aimed to determine the prevalence and prognostic risk factors for refractoriness of JME. METHODS: We systematically searched PubMed and EMBASE and included 43 eligible studies, reporting seizure outcome after antiepileptic drug (AED) treatment in JME cohorts. We defined refractory JME as persistence of any seizure despite AED treatment and performed a random-effects meta-analysis to assess the prevalence of refractory JME and of seizure recurrence after AED withdrawal in individuals with well-controlled seizures. Studies reporting potential prognostic risk factors in relation to seizure outcome were included for subsequent meta-analysis of risk factors for refractoriness. RESULTS: Overall, 35% (95% confidence interval, 29-41%) of individuals (n = 3311) were refractory. There was marked heterogeneity between studies. Seizures recurred in 78% (95% confidence interval, 52-94%) of individuals who attempted to withdraw from treatment after a period of seizure freedom (n = 246). Seizure outcome by publication year suggested that prognosis did not improve over time. Meta-analysis suggested six variables as prognostic factors for refractoriness, i.e. having three seizure types, absence seizures, psychiatric comorbidities, earlier age at seizure onset, history of childhood absence epilepsy and praxis-induced seizures. CONCLUSION: One-third of people with JME were refractory, which is a higher prevalence than expected. Risk factors were identified and can be used to guide treatment and counselling of people with JME.
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Epilepsia Mioclônica Juvenil/epidemiologia , Anticonvulsivantes/uso terapêutico , Humanos , Epilepsia Mioclônica Juvenil/tratamento farmacológico , Epilepsia Mioclônica Juvenil/etiologia , Prevalência , Prognóstico , Fatores de RiscoRESUMO
BACKGROUND: Cochlea sparing can reduce late ototoxicity in head and neck cancer patients treated with cisplatin-based radiochemotherapy. In this situation, a mean cochlear dose (MCD) constraint of 10â¯Gy has been suggested by others based on the dose-effect relationship of clinical data. We aimed to investigate whether this is feasible for primary and postoperative radiochemotherapy in locoregionally advanced tumors without compromising target coverage. PATIENTS AND METHODS: Ten patients treated with definitive and ten patients treated with adjuvant intensity-modulated radiotherapy (IMRT) and concurrent chemotherapy were investigated. The cochleae and a planning risk volume (PRV) with a 3â¯mm margin were newly delineated, whereas target volumes and other organs at risk were not changed. The initial plan was recalculated with a constraint of 10â¯Gy (MCD) on the low-risk side. The quality of the resulting plan was evaluated using the difference in the equivalent uniform dose (EUD). RESULTS: A unilateral MCD of below 10â¯Gy could be achieved in every patient. The mean MCD was 6.8â¯Gy in the adjuvant cohort and 7.6â¯Gy in the definitive cohort, while the non-spared side showed a mean MCD of 18.7 and 30.3â¯Gy, respectively. The mean PRV doses were 7.8 and 8.4â¯Gy for the spared side and 18.5 and 29.8â¯Gy for the non-spared side, respectively. The mean EUD values of the initial and recalculated plans were identical. Target volume was not compromised. CONCLUSION: Unilateral cochlea sparing with an MCD of less than 10â¯Gy is feasible without compromising the target volume or dose coverage in locoregionally advanced head and neck cancer patients treated with IMRT. A prospective evaluation of the clinical benefit of this approach as well as further investigation of the dose-response relationship for future treatment modification appears promising.
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Quimiorradioterapia/efeitos adversos , Cisplatino/efeitos adversos , Cóclea/efeitos dos fármacos , Cóclea/efeitos da radiação , Tratamentos com Preservação do Órgão , Neoplasias Otorrinolaringológicas/terapia , Radioterapia de Intensidade Modulada/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Quimiorradioterapia Adjuvante/efeitos adversos , Cisplatino/uso terapêutico , Terapia Combinada , Estudos de Viabilidade , Feminino , Humanos , Masculino , Gradação de Tumores , Estadiamento de Neoplasias , Neoplasias Otorrinolaringológicas/patologia , Doses de Radiação , Planejamento da Radioterapia Assistida por ComputadorRESUMO
The 4,5,6-trimethoxy-2-mercaptobenzyl auxiliary was used in auxiliary-based native chemical ligation reactions with Boc-protected pHTI and mHTI ω-amino acid thioesters 2a,b for the construction of small hemithioindigo (HTI)-based chromopeptides 6a,b with a class 1 PDZ binding motif. While reversible tris(2-carboxyethyl)phosphine (TCEP)-HTI adduct formation required moderate use of access TCEP, the Na ascorbate concentration was broadly varied for optimization of the reaction conditions. In the studies presented, the mHTI ω-amino acid thioester 2b proved to be slightly less reactive than the pHTI ω-amino acid thioester 2a. Ligated products 5a-d were isolated in 35-81% yield, and also cleavage of the auxiliary proceeded smoothly, furnishing peptides 6a-d in 48-61% yield. Copyright © 2017 European Peptide Society and John Wiley & Sons, Ltd.
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Índigo Carmim/análogos & derivados , Peptídeos/síntese química , Cisteína/química , Índigo Carmim/química , Peptídeos/química , Fosfinas/químicaRESUMO
The treatment of complex elbow dislocation fractures is a challenge to both the treating surgeon as well as to the patient due to the complex bony and soft tissue anatomy of the joint. In order to establish an expedient treatment algorithm, all osseous and ligamentous injuries need to be thoroughly assessed. Furthermore, a detailed knowledge of the joint-stabilizing structures, practicable surgical approaches as well as the possible techniques for fracture fixation and/or arthroplasty are essential to facilitate early rehabilitation of the elbow and avoid injury-related complications. Any unnecessary delay in treatment of this complex injury can result in posttraumatic functional disorders, recurrent instability and secondary arthrosis. In conclusion, the goals of surgical treatment must be the correct restoration of the joint anatomy and stability as the prerequisites for any successful treatment of elbow fracture dislocations in order to enable early motion of the joint.
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Lesões no Cotovelo , Articulação do Cotovelo/cirurgia , Fratura-Luxação/cirurgia , Algoritmos , Artroplastia/métodos , Intervenção Médica Precoce , Articulação do Cotovelo/fisiopatologia , Fratura-Luxação/diagnóstico , Fratura-Luxação/fisiopatologia , Fixação de Fratura/métodos , Humanos , Ligamentos Articulares/lesões , Ligamentos Articulares/fisiopatologia , Ligamentos Articulares/cirurgia , Cuidados Pós-Operatórios/métodos , Complicações Pós-Operatórias/prevenção & controle , Amplitude de Movimento Articular/fisiologiaRESUMO
BACKGROUND: Previous studies suggest that high protein intake in infancy leads to a higher body mass index (BMI) in later childhood. We examined the associations of total, animal and vegetable protein intake in early childhood with detailed measures of body composition at the age of 6 years. METHODS: This study was performed in 2911 children participating in a population-based cohort study. Protein intake at the age of 1 year was assessed with a validated food-frequency questionnaire and was adjusted for total energy intake. At the children's age of 6 years, we measured their anthropometrics and body fat (with dual-energy X-ray absorptiometry). We calculated age- and sex-specific s.d. scores for BMI, fat mass index (FMI) and fat-free mass index (FFMI). RESULTS: After adjustment for confounders, a 10 g per day higher total protein intake at 1 year of age was associated with a 0.05 s.d. (95% confidence interval (CI) 0.00, 0.09) higher BMI at age 6. This association was fully driven by a higher FMI (0.06 s.d. (95%CI 0.01, 0.11)) and not FFMI (-0.01 s.d. (95%CI -0.06, 0.05)). The associations of protein intake with FMI at 6 years remained significant after adjustment for BMI at the age of 1 year. Additional analyses showed that the associations of protein intake with FMI were stronger in girls than in boys (P for interaction=0.03), stronger among children who had catch-up growth in the first year of life (P for interaction<0.01) and stronger for intake of animal protein (both dairy and non-dairy protein) than protein from vegetable sources. CONCLUSIONS: Our results suggest that high protein intake in early childhood is associated with higher body fat mass, but not fat-free mass. Future studies are needed to investigate whether these changes persist into adulthood and to examine the optimal range of protein intake for infants and young children.
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Composição Corporal/efeitos dos fármacos , Fenômenos Fisiológicos da Nutrição Infantil/efeitos dos fármacos , Proteínas Alimentares/administração & dosagem , Proteínas Alimentares/farmacologia , Índice de Massa Corporal , Criança , Ingestão de Energia , Comportamento Alimentar , Feminino , Humanos , Masculino , Países Baixos/epidemiologia , Avaliação Nutricional , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Estudos ProspectivosRESUMO
BACKGROUND: New evidence suggests the potential involvement of epigenetic mechanisms in type 2 diabetes (T2D) as a crucial interface between the effects of genetic predisposition and environmental influences. AIM: To systematically review studies investigating the association between epigenetic marks (DNA methylation and histone modifications) with T2D and glycemic traits (glucose and insulin levels, insulin resistance measured by HOMA-IR). METHOD AND RESULTS: Six bibliographic databases (Embase.com, Medline (Ovid), Web-of-Science, PubMed, Cochrane Central and Google Scholar) were screened until 28th August 2015. We included randomized controlled trials, cohort, case-control and cross-sectional studies in humans that examined the association between epigenetic marks (global, candidate or genome-wide methylation of DNA and histone modifications) with T2D, glucose and insulin levels and insulin metabolism. Of the initially identified 3879 references, 53 articles, based on 47 unique studies met our inclusion criteria. Overall, data were available on 10,823 participants, with a total of 3358 T2D cases. There was no consistent evidence for an association between global DNA-methylation with T2D, glucose, insulin and insulin resistance. The studies reported epigenetic regulation of several candidate genes for diabetes susceptibility in blood cells, muscle, adipose tissue and placenta to be related with T2D without any general overlap between them. Histone modifications in relation to T2D were reported only in 3 observational studies. CONCLUSIONS AND RELEVANCE: Current evidence supports an association between epigenetic marks and T2D. However, overall evidence is limited, highlighting the need for further larger-scale and prospective investigations to establish whether epigenetic marks may influence the risk of developing T2D.
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Glicemia/genética , Montagem e Desmontagem da Cromatina , Metilação de DNA , Diabetes Mellitus Tipo 2/genética , Epigênese Genética , Histonas/metabolismo , Acetilação , Biomarcadores/sangue , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Feminino , Regulação da Expressão Gênica , Interação Gene-Ambiente , Estudos de Associação Genética , Predisposição Genética para Doença , Histonas/genética , Humanos , Insulina/sangue , Resistência à Insulina/genética , Masculino , Fenótipo , Fatores de RiscoRESUMO
A paradigm shift in the treatment of elderly patients has recently taken place leading to an increase in joint replacement surgery. The aim of this article is to highlight new developments and to present a treatment algorithm for femoral neck fractures. The age limit must be individually determined considering the comorbidities and perioperative risk profile. Pertrochanteric femoral fractures are nearly exclusively treated by osteosynthesis regardless of age. The situation for femoral neck fractures is more complex. Patients younger than 65 years should generally be treated by osteosynthesis but patients older than 65 years benefit from hemiarthroplasty or total hip arthroplasty. In patients aged between 65 and 75 years with high functional demands and a justifiable perioperative risk, total joint replacement is the treatment of choice. In physically less active patients older than 75 years and poor general condition, preference should be given to hemiarthroplasty.
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Artroplastia de Quadril/métodos , Fraturas do Colo Femoral/diagnóstico , Fraturas do Colo Femoral/cirurgia , Fixação Interna de Fraturas/métodos , Hemiartroplastia/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Artroplastia de Quadril/instrumentação , Criança , Pré-Escolar , Tomada de Decisão Clínica , Medicina Baseada em Evidências , Feminino , Fixação Interna de Fraturas/instrumentação , Hemiartroplastia/instrumentação , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Cuidados Pré-Operatórios/métodos , Resultado do Tratamento , Adulto JovemRESUMO
We report the case of a 51-year-old male patient who sustained a liver rupture following mechanical cardiopulmonary resuscitation (CPR) with the LUCAS® system. The patient was under anticoagulation and developed an abdominal compartment syndrome. Although the use of mechanical CPR devices, such as the LUCAS® system and the load distributing band (Autopulse®), is becoming more common, there are specific complications described in the literature, which are associated with mechanical CPR. It is important to differentiate between general complications associated with CPR and those which can be attributed to the application of mechanical CPR devices. Using the example of the presented case, this article outlines and discusses these points based on the currently available literature. It should also be noted that mechanical CPR can act in a similar way to chest trauma and can necessitate an investigation with contrast enhanced computed tomography.
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Reabilitação Cardíaca/efeitos adversos , Fígado/diagnóstico por imagem , Fígado/lesões , Lesões dos Tecidos Moles/diagnóstico por imagem , Lesões dos Tecidos Moles/etiologia , Tomografia Computadorizada por Raios X/métodos , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Corporal Total/métodosRESUMO
The ultrafast ring-opening reaction of photochromic fulgides proceeds via conical intersections to the ground state isomers involving activation barriers in the excited state. The coherent oscillations observed in the femtosecond transient absorption signal of a methyl-substituted indolylfulgide were analysed in the framework of vibrational wavepackets to expose a dominant low-frequency mode at â¼80 cm(-1). The quantum chemical calculations in the relaxed excited state geometry of this fulgide revealed that the experimentally observed vibrational normal mode has a dominant contribution to the relevant ring-opening reactive coordinate.
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Hidrocarbonetos Aromáticos/química , Anidridos Succínicos/química , Indóis/química , Isomerismo , Luz , Metilação , Modelos Moleculares , Teoria Quântica , Fatores de TempoRESUMO
A 28-year-old male patient was initially conservatively treated by a general physician for muscle strain of the right calf after a bowling game. Due to increasing pain and swelling of the lower leg 5 days later, the differential diagnosis of a deep vein thrombosis was considered. Furthermore, the onset of neurological deficits and problems with raising the foot prompted inclusion of compartment syndrome in the differential diagnosis for the first time. Admission to hospital for surgical intervention was scheduled for the following day. At this point in time the laboratory results showed a negative d-dimer value and greatly increased C-reactive protein level. On day 6 a dermatofasciotomy was performed which revealed extensive muscular necrosis with complete palsy of the peroneal nerve. In the following lawsuit the patient accused the surgeon of having misdiagnosed the slow-onset compartment syndrome and thus delaying correct and mandatory treatment. The arbitration board ruled that the surgeon should have performed fasciotomy immediately on day 5 at the patient's consultation. The clinical presentation of progressive pain, swelling of the lower leg in combination with peroneal palsy must lead to the differential diagnosis of compartment syndrome resulting in adequate therapy. The delay of immediate surgery, therefore, was assessed to be faulty as this knowledge is to be expected of a surgeon.
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Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/cirurgia , Síndromes Compartimentais/diagnóstico , Prova Pericial/legislação & jurisprudência , Imperícia/legislação & jurisprudência , Erros Médicos/legislação & jurisprudência , Adulto , Síndromes Compartimentais/cirurgia , Alemanha , Humanos , MasculinoRESUMO
INTRODUCTION: Hearing aids (HA) provide adequate support for many patients with hearing loss, but not all. Around one third of 10.000 patients provided with hearing aids in the Abbreviated Profile of Hearing Aid Benefit felt no actual benefit when using the hearing aid, although they demonstrated the necessary hearing improvement on speech audiometry. Epidemiological data show bad compliance, especially in older people. Only one in three hearing aid owners wears their device regularly. For this subpopulation of patients active middle ear implants (AMEIs) have been used since 1998. In the present review, the current indications for AMEIs are presented. MATERIAL AND METHODS: A selective literature search in PubMed, as well as a guideline search at the Arbeitsgemeinschaft der Wissenschaftlichen Fachgesellschaften e. V. (German Association of Scientific Societies), was carried out. RESULTS: The present review shows that when there is an adequate indication the hearing capacity of patients can be thoroughly rehabilitated and thus their quality of life improved with the help of AMEIs. Although most commercially available systems have a satisfactory risk profile, increased extrusion rates, malfunctioning and facial paresis have been reported in older implant series. The advantages of AMEIs include increased hearing gain, reduced feedback, increased hearing quality, increased speech discrimination in the presence of background noise, and an absence of occlusion. CONCLUSIONS: The audiological indication for AMEIs in primary care is usually controversial, since the functional hearing gain and increase in speech discrimination may be small compared with modern conventional hearing aids. AMEIs thus play a main role in the secondary care of patients who do not have sufficient benefit or who have side effects after having a conventional hearing aid fitted.
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Perda Auditiva/epidemiologia , Perda Auditiva/reabilitação , Prótese Ossicular/estatística & dados numéricos , Cooperação do Paciente/estatística & dados numéricos , Satisfação do Paciente/estatística & dados numéricos , Auxiliares de Audição , Humanos , Prevalência , Resultado do TratamentoRESUMO
BACKGROUND: Classification of diseases on the molecular level is the basis for personalized medicine. Personalized medicine proposes to improve efficiency and quality of care, to reduce side effects and to increase long-term cost-effectiveness. OBJECTIVES: This paper is concerned with the role of genetic diagnostics in patients with a cochlear implant. MATERIAL AND METHODS: A selective literature search in PubMed was performed. RESULTS: Genetic diagnosis allows ruling out syndromic hearing loss and thus prevents follow-up studies. It allows genetic counseling, prognosis and advice on family planning and targeted prevention. Due to its minimal invasiveness, it is suitable for evaluation of factors accounting for hearing loss in children. CONCLUSIONS: Molecular medicine plays a major role in the treatment of sensorineural hearings loss with cochlear implants.
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Aconselhamento Genético/tendências , Testes Genéticos/tendências , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Otolaringologia/tendências , Medicina de Precisão/tendências , Implantes Cocleares , Predisposição Genética para Doença/genética , Perda Auditiva Neurossensorial/reabilitação , HumanosRESUMO
C-reactive protein (CRP) is a common laboratory infection marker in blood-serum of patients. In all diverse medical departments CRP is often used, and also in orthopaedics CRP is proved to be very helpful in diagnosis and monitor of infections. CRP in most fields is superior to conventional and newer infection parameter and is a basic parameter for inflammation. Especially for detection of an early postoperative infection CRP can be very helpful as an objective parameter easy to obtain. In uneventful operative treatment a similar evolution in CRP concentrations was found: the peak level occurred on the second or third postoperative day and reflected the extent of surgical trauma. A second rise of CRP in the postoperative course indicates a complication. Highest levels are reached in bacterial infection after the forth postoperative day with a cut-off level about 10 mg/dl. CRP can also be used as a preoperative marker for risk stratification and newer times CRP is reported as an independent fracture-risk-factor. In general CRP is the basic inflammatory parameter in orthopaedic surgery and is more significant and common than WBC or ESR. But CRP is only a laboratory parameter and must always be correlated with clinical signs of infection.
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Proteína C-Reativa/metabolismo , Infecções/diagnóstico , Procedimentos Ortopédicos/efeitos adversos , Complicações Pós-Operatórias/diagnóstico , Biomarcadores/sangue , Humanos , Período Pós-Operatório , Cuidados Pré-Operatórios/métodos , Fatores de RiscoRESUMO
PURPOSE: Diabetes mellitus type 2 (2DM) is associated with altered bone quality. In order to analyze associated changes on a molecular level, we investigated the gene expression of key factors of osteoblast metabolism in type 2 diabetics. METHODS: Total mRNA and protein of bone samples from 2DM patients and non-diabetic patients were isolated, and subsequently, reverse transcription polymerase chain reaction (RT-PCR) or Western blot was performed. Furthermore, pro- and anti-inflammatory serum cytokine levels were determined using a cytokine array. RESULTS: Expression of runt-related transcription factor 2 (RUNX2) was increased by 53 %. Expression of the bone sialoproteins, secreted phosphoprotein 1 (SPP1; osteopontin), and integrin-binding sialoprotein (IBSP), was elevated by more than 50 %, and activating transcription factor 4 (ATF4) expression was 13 % lower in the investigated diabetes group compared to the control group. Similarly, the expression of versican (VCAN) and decorin (DCN) was upregulated twofold in the diabetic group. At the same time, 2DM patients and controls show alterations in pro- and anti-inflammatory cytokine levels in the serum. CONCLUSIONS: This study identifies considerable changes in the expression of transcription factors and extracellular matrix (ECM) components of bone in 2DM patients. Furthermore, the analysis of key differentiation factors of osteoblasts revealed significant alterations in gene expression of these factors, which may contribute to the dysregulation of energy metabolism in 2DM.
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Fator 4 Ativador da Transcrição/genética , Doenças Ósseas/genética , Diabetes Mellitus Tipo 2/genética , Regulação da Expressão Gênica , Proteínas de Ligação à Região de Interação com a Matriz/genética , Fator de Transcrição STAT1/genética , Fatores de Transcrição/genética , Western Blotting , Doenças Ósseas/diagnóstico , Intervalos de Confiança , Citocinas/metabolismo , Densitometria/métodos , Complicações do Diabetes/diagnóstico , Complicações do Diabetes/genética , Diabetes Mellitus Tipo 2/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Biologia Molecular , Osteoblastos/metabolismo , Osteoblastos/patologia , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real/métodos , Valores de Referência , Estudos de Amostragem , Sensibilidade e Especificidade , Estatísticas não ParamétricasRESUMO
A 52-year-old man sustained a laceration to his left eyebrow after a fall in his bathroom. His plastic glasses shattered upon impact. The patient was referred to a local emergency department. After a quick exploration by the physician on call, the wound was closed by a nurse using the Steri-Strip Wound Closure system. No further exploration or imaging was performed. Four weeks after the incident the patient presented to a dermatologist with a "foreign body sensation" at the site of the laceration. Assuming a foreign body granuloma, he was referred to a maxillofacial surgeon who removed plastic debris (parts of the glasses worn by the patient). The wound subsequently healed without further complications.The patient filed a complaint for inadequate treatment in the emergency department. No detailed patient and accident history had been obtained, the wound exploration performed by the physician was superficial, and the wound closure was performed by a nurse. The expert opinion of the arbitration board ascertained a medical malpractice in terms of insufficient history, examination, and a lack of documentation. Specific questioning of the accident history would have led to the suspicion of possible foreign bodies, thus, leading to a more thorough exploration and likely further imaging. The arbitration board concluded that obtaining a detailed accident history and an accurate examination would have revealed the foreign bodies and/or led to further imaging. Complying with this, the patient could have been spared further harm and secondary surgery would have been unnecessary.
Assuntos
Erros de Diagnóstico/legislação & jurisprudência , Documentação/normas , Corpos Estranhos no Olho/diagnóstico , Corpos Estranhos no Olho/cirurgia , Imperícia/legislação & jurisprudência , Lesões dos Tecidos Moles/diagnóstico , Lesões dos Tecidos Moles/cirurgia , Alemanha , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Bouldering is a new trend sport which has become popular in recent years. From April 2011 to June 2012 a total of 5 patients with elbow dislocations from bouldering were admitted to our level 1 trauma center. The injuries varied from simple elbow dislocations to complex fracture dislocations. Elbow dislocations occurred during falling backwards when patients tried to protect themselves by retroversion of both arms. In all cases the falling height was less than 4 meters. The bouldering injury pattern, the diagnostic and therapeutic management as well as the rehabilitation program are described in detail in this article. To the best of our knowledge this is the first report on the special danger of bouldering for complex elbow injuries.