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Digitalization in healthcare has gained considerable importance in recent years and especially during the Covid19 pandemic. The pandemic has undeniably severely limited human interactions. In light of the risk of infection, and also in light of the decreasing number of physician consultations by patients due to fear of infection, the medical community has had to seek new platforms for physician-patient interaction and -communication and achieved these goals predominantly by accelerating the development of digitization processes and telemedicine. In otolaryngology, the term telemedicine usually refers to video consultation (VS) or teleconsultations. In principle, ENT physicians belong to the group of specialists who are allowed to perform and invoice video consultations. Data protection and legal aspects pose challenges with regard to offering telemedical services. From an ethical point of view, any telemedical consultation would also have to be preceded by a mandatory explanation of the risks and disadvantages of using these procedures, and the basis for liability would also have to be clarified here in principle. Telemedicine will also have to assert itself in view of the evidence. Thus, at least from the medical university side, accompanying studies should be initiated when new telemedical procedures are offered, in order to evaluate the corresponding advantages and disadvantages on the basis of evidence. In terms of professional policy, care should always be taken to ensure that telemedicine is only offered by players in the healthcare sector who can also guarantee personal treatment of the patient assessed by telemedicine.
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COVID-19 , Otolaringología , Telemedicina , Humanos , Atención a la Salud , OtorrinolaringólogosRESUMEN
OBJECTIVE: In case of cochlear implantation seroma, hematoma, local wound infections or vertigo are rare but typical complications. In contrast, emphysema is seldom reported. They can occur after cochlear implantation both in the postoperative healing phase and years later. A therapeutic algorithm does not yet exist. METHODS: We report on 3 patients with subcutaneous emphysema in the area of the receiver-stimulator. An unsystematic review of the literature of cases with emphysema after cochlear implantation highlights possible risk factors and the therapeutic options. RESULTS: The 3 cases developed subcutaneous emphysema 2-11 month after cochlear implantation due to nose blowing or CPAP therapy in obstructive sleep apnea. The current literature reports another 35 cases of emphysema after cochlear implantation. Air insufflation via the Eustachian tube is the most frequently described cause. Diseases of the nose and sinuses, tube dysfunction and obstructive sleep apnea are potential risk factors. Pressure bandage, puncture, tympanic tubes, and surgical revision are common treatments. CONCLUSIONS: Most emphysema can be controlled by conservative methods such as pressure bandaging and behavioral instruction. Punctures should be avoided due to the risk of upcoming infections. The prophylactic use of antibiotics seems dispensable. Surgical revision should be considered especially in cases of pneumocephalus with suspected leakage in the dura. The coverage of the mastoidectomy by a bony cap can be precautious and beneficial in cases with risk factors.
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Implantación Coclear , Implantes Cocleares , Enfisema Subcutáneo , Humanos , Implantación Coclear/efectos adversos , Implantación Coclear/métodos , Enfisema Subcutáneo/etiología , Enfisema Subcutáneo/terapia , Implantes Cocleares/efectos adversos , Factores de Riesgo , Reoperación , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/terapia , Estudios RetrospectivosRESUMEN
Demographically, the German population is aging and becoming more morbid. At the same time, urbanization trends, medical overcapacities, and increasing care costs are being observed in association with a tight healthcare budget. Centralization, specialization, and outpatient care are intended to provide a remedy and can be controlled by modifications to remuneration. This upheaval poses new challenges for patients and physicians, which were analyzed exemplarily at the Head and Neck Tumor (HNC) Center of the University Hospital Ulm. This is a retrospective, monocentric cohort study on the development of patient volume, catchment area, treatment modality, and demographics including 2070 HNC patients at the ENT clinic between the years 2011 and 2020. It was observed that the number (new diagnoses 2011: 134 vs. 2020: 204) and the average age (2011: 61.5 years vs. 2020: 65.8 years; p < 0.0001) of HNC patients increased over time. In addition, patients tended to travel longer distances (2011: 54.4 km vs. 2020: 64.4 km; p = 0.05). At the same time, the mean number of consultations and treatments per patient per 5-year follow-up interval grew (at initial diagnosis in 2011: 7.8 vs. 2016: 10.4; p = 0.0003), with the proportion of outpatient contacts increasing from 58.9 % to 62.4 % (p = 0.09) from 2011 to 2020. Accordingly, clinical centers are expected to become more important in the care of HNC patients as the healthcare system becomes more specialized, and centralized with a growing outpatient setting. The following consequences for patient care should be considered in restructuring strategies.
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Neoplasias de Cabeza y Cuello , Especialización , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Estudios de Cohortes , Neoplasias de Cabeza y Cuello/diagnóstico , Neoplasias de Cabeza y Cuello/terapia , Atención AmbulatoriaRESUMEN
Objectives: A sufficient histological evaluation is a key pillar in oncological treatment, especially in situations of cancer of unknown primary. CO2 laser technology is used in clinical routine of soft tissue surgery because of its cutting quality and availability. Diode pumped solid state Er(bium):YAG laser systems promise a higher cutting efficiency and minor thermal damages. The aim of this study was to compare both laser systems with respect to their suitability for cutting soft tissue. Methods: A setup was realized which enables comparable experiments with the clinical CO2 laser (AcuPulse 40ST DUO, Lumenis) and the Er:YAG laser system (DPM 40, Pantec Biosolutions AG). Fresh mucosal samples of porcine tongues were used to determine the influence of laser power and sample velocity on cutting depth and thermal damage width for both lasers. In addition, for the Er:YAG laser, the influence of the pulse repetition rate was examined additionally. For analysis, images of histological sections were taken. Results: In all experiments, the Er:YAG laser shows a significantly higher cutting depth (P < 0.0001) and less thermal damage width (P < 0.0001) than the CO2 laser. For example, at an average power of 7.7 W and a sample velocity of 5 mm/s the Er:YAG laser shows a mean cutting depth of 1.1 mm compared to the CO2 laser with 500 µm. While the Er:YAG laser shows a mean thermal damage width of 70 µm compared to 120 µm. Furthermore, the Er:YAG enables the adjustment of the cutting depth and thermal damage width by varying the irradiation parameters. A decrease of the repetition rate leads to a reduction of thermal damage. For example, a repetition rate of 100 Hz results in a thermal damage width of 46 µm compared to 87 µm at 800 Hz at an average power of 7.7 W and a cutting velocity = 5 mm/s while a homogenous cutting quality can be achieved. Conclusions: In conclusion, the results of these ex vivo experiments demonstrate significant advantages of the diode pumped Er:YAG laser system for soft tissue ablation compared to the CO2 laser, in particular regarding cutting efficiency and thermal damage width.
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INTRODUCTION: EBV serology is recommended for serological diagnosis of mononucleosis. As results of an automated differential blood count is available more quickly, possible differences between an EBV primary infection and a bacterial tonsillitis were investigated. METHODS: A retrospective evaluation of absolute and relative lymphocyte and monocyte counts of nâ=â140 patients >â16âyears from 01/2008 to 01/2019 (mean age 21.4âyears, 51â%ââ, 49â% â) with suspected EBV infection was performed. The groups of a serologically confirmed or excluded EBV infection were compared. RESULTS: An automated differential blood count was available in nâ=â42 patients with primary EBV infection. Average lymphocyte count was 5.5â±â2.6âgiga/l. Patients with acute bacterial tonsillitis (nâ=â36) had significantly lower values with 1.6â±â1.3âgiga/l, p <â0.05. Equal results were found in relative lymphocyte counts (47.4â±â17.9 vs. 12.8â±â9.1â%, p <â0.05). For monocyte counts, neither absolute (1.2â±â0.8 vs. 1.2â±â0.6 giga/l, pâ=â0.617) nor relative (8.8â±â3.6 vs. 9.8â±â5.2â%, pâ=â0.746) monocyte counts showed significant differences. CONCLUSION: Increased lymphocyte counts in an automated differential blood count can be a first indication of primary EBV infection. Perhaps up to 30â% morphologically altered lymphocytes are increasingly counted correctly with modern hematology analyzers and no longer counted as monocytes. These results could be used to make decisions about further diagnosis (abdominal ultrasonography, ECG) and antibiotic therapy before results of EBV serology are available.
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Infecciones por Virus de Epstein-Barr , Mononucleosis Infecciosa , Adulto , Infecciones por Virus de Epstein-Barr/diagnóstico , Herpesvirus Humano 4 , Humanos , Mononucleosis Infecciosa/diagnóstico , Recuento de Linfocitos , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Primary platinum-based chemoradiotherapy (CRT) remains the treatment of choice for nonresectable squamous cell carcinoma of the head and neck (HNSCC). Immune-checkpoint modulators are used as palliative therapy and studied in combination with definitive CRT. However, the immunological changes by CRT need yet to be understood. METHODS: A cohort consisting of 67 paired tissue biopsies (N = 134) of HNSCC patients before and after CRT was created. The expression of PD-1, PD-L1, and CD27 of tumor and immune cells by immunohistochemistry was evaluated. RESULTS: PD-L1 expression on immune cells of non-responders was significantly lower before CRT (P = .008). CD27 was expressed only on immune cells and not on cancer cells. A significant lower CD27-expression score was observed following CRT (P = .019). CONCLUSIONS: Conventional CRT changes the expression of CD27 in the tumor microenvironment. Whether this is due to a loss of expression or a reduction of CD27+ cells must be evaluated in further analyses.
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Quimioradioterapia , Neoplasias de Cabeza y Cuello , Neoplasias de Cabeza y Cuello/terapia , Humanos , Inmunohistoquímica , Carcinoma de Células Escamosas de Cabeza y Cuello/terapia , Microambiente TumoralRESUMEN
BACKGROUND: Universal newborn hearing screening (UNHS) was established in Germany in 2009. Even compliance was tested in early studies, there is little knowledge regarding the follow-up examination of children with suspected hearing disorder. METHODS: A retrospective evaluation was performed in 570 cases of children who failed newborn hearing screening for the years between 2009-2016. Hearing deficiency was defined as having a hearing threshold ≥â35âdB. Compliance with national guidelines was checked. Every child received brainstem evoked response audiometry (BERA). RESULTS: Permanent hearing disorder was found in 24â%, of whom about half (51â%) had an inner ear hearing loss (of these in 73â% bilateral). Only 27â% of high risk children born in peripheral hospitals were tested immediately by the envisaged automated auditory brainstem response (AABR) method. They often presented tardy, leading to a delayed diagnosis and therapy. Children tracked by the Bavarian health office presented little earlier but had less cases who were lost to follow-up. DISCUSSION: In 93â% a diagnosis was made during first examination and therapy (e.âg. prescription of hearing aids) initiated on average within four months age. The rate of deafness corresponded with national averages. The quality of primary screenings is crucial in revealing problems and avoiding delay in dealing with them.
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Potenciales Evocados Auditivos del Tronco Encefálico , Tamizaje Neonatal , Niño , Estudios de Seguimiento , Alemania , Trastornos de la Audición , Pruebas Auditivas , Humanos , Recién Nacido , Emisiones Otoacústicas Espontáneas , Estudios RetrospectivosRESUMEN
BACKGROUND: There are few systematic studies on the general quality of life of children before and after adenoidectomy and adenotonsillotomy, although interventions on adenoids and tonsils are the most frequent operations in childhood in Germany. For this reason, the established KINDL questionnaire was used to assess the quality of life of children for the first time. METHODS: Study participants (nâ=â111) and a waiting design control group (nâ=â35) were recruited consecutively from children (3-6 years) receiving adenoidectomy (66â%) or adenotonsillotomy (34â%). The Kiddy-KINDL® questionnaire was answered by parents on the day of surgery and 3.5âmonths postoperatively. Parents of the control group were interviewed, when the date of operation was scheduled and on the day of operation. RESULTS: Total scale score of the Kiddy-KINDL of max. 100âpoints improved slightly in the intervention group from preoperatively 75.9â±â10.8 (95â%-KI [73.8-77.9]) to postoperatively 77.2â±â9.2 points (95â%-KI [75.1-79.0]; pâ=â0.365). Also in the comparison group there was no significant change over time (77.9â±â9.7; 95â% CI [74.1-81.7] vs. 77.3â±â11.3; 95â% CI [72.8-81.8]; pâ=â0.949) or compared to the preoperative score of the intervention group (pâ=â0.894). The subscales scores for "physical well-being" (p <â0.01), "school" (pâ=â0.034) and "parents" (p <â0.01) showed significant improvements for the intervention group. Children with additional tonsillotomy also showed a significant postoperative increase of the total scale score (pâ=â0.049). CONCLUSION: The version of the Kiddy-KINDL we used is therefore not fully suitable for recording the general QOL in adenotonsillar hyperplasia, since an improvement in QOL could only be recorded in subscales. However, since tonsillotomy in particular seems to have a relevant influence on QOL, it should be performed in children with significant hyperplasia.
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Hiperplasia , Calidad de Vida , Adenoidectomía , Niño , Alemania , Humanos , Encuestas y CuestionariosRESUMEN
BACKGROUND: The endonasal access to the frontal recess and sinus may be complicated by a variety of anatomical variations. Previous classifications of these variants were characterized by proper names or position information without anatomical reference. The IFAC is intended to simplify the classification of anatomical variations of the frontoethmoidal complex. The aim of this study was to analyse a representative number of sinus CT scans to assess the incidence of anatomical variations according to the IFAC and to compare the results with previous classifications. In addition, the coincidence of complex anatomical variations and radiological sings of opacification was investigated. METHODOLOGY/PRINCIPAL: Two hundred and forty-nine sinus CT scans were analysed in multiplanar reconstructions. Exclusion criteria were previous operations on the paranasal sinuses, malignant diseases, and an insufficient image quality. All anatomical variants were analysed according to the IFAC criteria. In addition, the coincidence of radiological sings of opacification and the presence of anatomical variations of the frontal recess and sinus were investigated. RESULTS: The analysis revealed Agger nasi cells in 95% of the CT scans. Supra agger cells (SACs) were detected in 49% and Supra agger frontal cells (SAFCs) in 25% of the data sets. Suprabulla cells (SBCs) were detected in 89% and Supra bulla frontal cells (SBFCs) in 27% of the scans. Supraorbital ethmoid cells (SECs) were detectable in 9% and interfrontal septal cells in 28% of the scans. Despite a partially strong narrowing of the frontal recess, no increased occurrence of radiological sings of opacification could be detected (p > 0.05). CONCLUSIONS: Anatomical variations in the frontoethmoidal area are very common. According to the IFAC criteria, in 43% of the patients, cells could be detected with pneumatization to or into the frontal sinus. The IFAC is structured more clearly compared to previous classifications due to the anatomical aspect. It represents the most consistent classification regarding surgical planning. Further studies will demonstrate the scientific and clinical value of this classification.
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Hueso Etmoides , Senos Etmoidales , Hueso Frontal , Seno Frontal , Tomografía Computarizada por Rayos X/métodos , Adulto , Anatomía Regional/clasificación , Anatomía Regional/métodos , Clasificación , Hueso Etmoides/anatomía & histología , Hueso Etmoides/diagnóstico por imagen , Senos Etmoidales/anatomía & histología , Senos Etmoidales/diagnóstico por imagen , Femenino , Hueso Frontal/anatomía & histología , Hueso Frontal/diagnóstico por imagen , Seno Frontal/anatomía & histología , Seno Frontal/diagnóstico por imagen , Seno Frontal/cirugía , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos OtorrinolaringológicosRESUMEN
OBJECTIVES: This study is set to analyze clinicopathological factors predicting the recovery of unilateral vocal fold paralysis (UVP) in patients after thyroid gland surgery. The quality of voice was additionally assessed in these patients. METHODS: The charts and videolaryngostroboscopy (VLS) examinations of 84 consecutive patients with a complete UVP after surgery of the thyroid gland were retrospectively reviewed. Patients were divided into 2 groups: patients who fully recovered from vocal fold paralysis and those who failed to recover after a follow-up of 12 months. The quality of voice was analyzed among other things by determining the Voice Handicap Index (VHI). RESULTS: The UVP fully recovered in 52 of 84 (61.9%) patients. Positive mucosal waves (pMWs) on the paralyzed side, a minimal glottic gap <3 mm seen at the first postoperative VLS, age ≤50 years, and surgery duration ≤120 minutes were associated factors for a complete recovery of nerve function. The voice parameters improved independently from recovery of the paralysis in 90% of the patients. CONCLUSIONS: For patients with a poor prognosis of a UVP, early intervention may be beneficial. Thus, predicting factors for a full recovery of vocal fold motion would be a valuable tool. In our cohort, about 60% of recoveries could have been predicted using the above-mentioned parameters. Good quality of voice was independently reached in 90% of the cases.
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Complicaciones Posoperatorias/fisiopatología , Recuperación de la Función , Tiroidectomía/efectos adversos , Parálisis de los Pliegues Vocales/fisiopatología , Calidad de la Voz , Adulto , Factores de Edad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tempo Operativo , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/patología , Pronóstico , Estudios Retrospectivos , Parálisis de los Pliegues Vocales/etiología , Parálisis de los Pliegues Vocales/patologíaRESUMEN
INTRODUCTION: There are merely heterogenous therapy modalities for contact granulomas (CG) without evidenced efficacy. The intention of our study was to evaluate possible risk factors as well as to demonstrate therapeutic successful approaches. METHODS: Based on a retrospective analysis on 79 patients with CG we evaluated personal data for the first patient contact, for the first follow-up appointment (FA) averaged 3-4 months after the first contact, for the second follow-up appointment (SA) averaged 6-8 months after the first contact and for the last follow-up (LA) averaged 13 months after the first contact with collecting information concerning a possible gastrolaryngeal reflux disease as well as symptoms like harrumphing, hoarseness, hyperfunctional dysphonia as well as videostroboscopic signs. The therapeutic methods were prohibition of harrumphing, speech therapy, antazida therapy, surgical resection or a combination of therapy modalities. The group of FA and SA were divided into groups of complete remission group and incomplete remission group, symptoms and stroboscopic signs were statistically compared. RESULTS: Harrumphing was an important cofactor in developing a CG. Although we couldn't verify a superior therapy modality a complete remission was archieved in 2/3rd of the reviewed cases. Even if there was an incomplete remission of the contact granuloma we were able to show a reduction of symptoms. Surgical resections of CG showed a significantly higher recurrence rate. DISCUSSION: Even if we couldn't confirm a superior therapy modality we recommend a symptomatic therapy of CG with overall good remission rates. Primary surgical interventions are not advised owing to high recurrence rates.
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Granuloma , Logopedia , Humanos , Estudios RetrospectivosRESUMEN
OBJECTIVE: The standardized and validated English NOSE© questionnaire is used to assess subjective complaints of nasal obstruction. The aim of our study was to create and validate a German version of the NOSE© questionnaire. MATERIAL AND METHODS: The original questionnaire was translated into German in multiple steps. The English back translation was sufficiently similar to the original questionnaire. Next, the translated questionnaire was completed twice each by a group of patients with symptoms of nasal obstruction (n = 76) and a group of nose healthy test persons (n = 104). Subsequently, the questionnaire was tested for internal consistency, test-retest reliability, construct validity, discriminant validity and sensitivity to change. Additionally, it was examined whether the rhinomanometric results of the patient group correlated with their questionnaire scores. RESULTS: The created German NOSE questionnaire had high internal consistency with an average result of Cronbach's α ≥ 0.8. The test-retest reliability was also satisfactory with Goodman-Kruskal-γ = 0.826. The discriminant validity showed significant differences between the patient and control group. Furthermore, sensitivity to change was high. The patients' rhinomanometric results before operation did not correlate with the corresponding NOSE questionnaire Scores. CONCLUSIONS: The study showed that the created German Version of the NOSE© questionnaire (NOSE GAV) is a valid method for assessment of subjective nasal obstruction. It can be used throughout German-speaking areas without restriction.
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Obstrucción Nasal , Humanos , Lenguaje , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Evaluación de SíntomasRESUMEN
Upper airway stenosis (UAS) is a common problem for anesthesiologists in laryngology as well as head and neck surgery, but it may lead to life-threatening situations if it is undetected. This retrospective case series was performed on patients who had UAS and presented with severe dyspnea or encountered difficulties in airway management. To assess the severity of UAS, the degree of stenosis was calculated using computed tomography scans and direct endoscopy. Lung function test was collected, and measured values were extracted as percentage of predicted reference values. Lower and higher grade stenoses were defined by Cotton-Myer classification and median degree of stenosis. Median of detected stenoses was 73% (64%-85%), with 7 of 10 patients classified as Cotton-Myer grade 3. Lung function tests showed typical parameter shifts as known from obstructive pulmonary diseases (OPDs). Furthermore, statistical analyses showed a significant higher value of residual volume (RV)/total lung capacity (TLC) in patients with higher grade stenosis (P < .05), whereas forced expiratory volume in 1 second /vital capacity (FEV1/VC) did not show a significant difference in same subgroups. In conclusion, the elevation of RV/TLC with concomitant normal FEV1/VC in symptomatic patients could be used to demarcate rare UAS from common OPD. Moreover, RV-TLC ratio might be used to distinguish between low- and high-grade UAS. But further epidemiological studies will be necessary to validate these findings. Level of evidence: 4.
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Volumen Espiratorio Forzado/fisiología , Laringoestenosis/fisiopatología , Estenosis Traqueal/fisiopatología , Capacidad Vital/fisiología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas de Función Respiratoria , Estudios Retrospectivos , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: In this study, symptoms associated with adenoids and hyperplasic palatine tonsils and parental expectation of surgical outcome were recorded, to provide realistic parental information prior to adenoidectomy (AT) ± tonsillotomy (ATT). MATERIAL AND METHODS: In total n = 111 children (3-6 years, â 65 % â 35 %) were recruited, who received AT (66 %) or ATT (34 %) at ENT University Hospital Ulm. By questionnaire-based survey, the most common symptoms and the main reason for the operation were reported from parent's perspective (operation day, follow-up: 3.5 months). Results were visualized in bar charts for total collective and AT and ATT surgical groups (significance level α = 5 %). RESULTS: Most commonly, parents observed signs of respiratory problems (mouth breathing 87 %, nasal obstruction 86 %, snoring 78 %), hearing loss (68 %) and infection of upper airways (66 %). Nasal obstruction (77.5 %) and hearing loss (53.2 %) were the main reasons for operation. In children with pharyngeal tonsil hyperplasia only, hearing problems dominated, while in additional tonsillotomy, nocturnal apneas were the most frequently reported reason for surgery. For all symptoms, a significant postoperatively improvement was achieved. CONCLUSIONS: With a differentiated indication for surgery, it is possible to inform the parents about a very good and realistic and effective reduction of symptom after AT and ATT.
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Tonsila Faríngea , Tonsilectomía , Adenoidectomía , Preescolar , Humanos , Motivación , Tonsila Palatina , PadresRESUMEN
OBJECTIVE: In vacuum wound therapy (VAC) a negative pressure can continuously clean effusions and enhance the formation of granulation tissue significantly. In visceral, trauma and burns surgery this technique is used frequently in critical wounds. In the head and neck area there is limited experience and publications. Especially in the combined use of split-thickness-skin grafts (STSG) and VAC there is no published evidence. MATERIAL AND METHODS: A retrospective database analysis was done and resulted in 36 single VAC therapies in 13 patients. They were treated between 2012 and 2017 in the Department of Otorhinolaryngology of the University Medical Center Ulm, Germany. A data analysis was performed relating to indications, diagnoses, comorbidities as well as the clinical course and outcome with special focus on STSG. RESULTS: Besides classical indications as pharyngo-cutaneous fistulas and troublesome would healing after flap surgery, 7 cases of VAC use with split-thickness skin grafts were identified. The median treatment duration was 11 days, the VAC dressing was changed twice in average, the median negative pressure was 70 mmHg. Wound closure was successful in 13/13 cases, in 7/13 cases wound closure was achieved by split-thickness skin graft with synchronous VAC therapy, 4/13 cases showed healing by secondary intention, in 2/13 cases a local or distant flap was used. CONCLUSIONS: We first describe the successful use of VAC therapy in combination with STSG in the head and neck area. This was effective in radiated patients and in critically ill patients with sepsis and necrotizing fasciitis.
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Cabeza/cirugía , Cuello/cirugía , Terapia de Presión Negativa para Heridas/métodos , Trasplante de Piel/métodos , Femenino , Humanos , Masculino , Estudios Retrospectivos , Trasplantes/trasplante , Resultado del TratamientoRESUMEN
BACKGROUND/AIM: Head and neck squamous cell carcinomas (HNSCCs) form a heterogeneous tumor entity located throughout the oral cavity, pharynx and larynx that is caused predominantly by chemically or virally induced carcinogenesis. Heterozygous germline mutations in cancer susceptibility genes might also lead to increased incidence of HNSCCs. As DNA stability is typically impaired in HNSCC cells and genes of the Fanconi anemia/BRCA DNA repair pathway can be mutated or down-regulated in HNSCCs, we investigated here whether germline mutations occur in the X-chromosomal FANCB as candidate gene. MATERIALS AND METHODS: Germline DNA of 85 consecutive HNSCC patients was sequenced. Missense alterations in FANCB were functionally tested in reference cells. RESULTS AND CONCLUSION: Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of FANCB (rs2188383, rs2375729, rs2905223) and predicted to be associated with normal function. One missense alteration, c.1004G>A resulting in p.G335E (rs41309679), in exon 4 was detected in five men in homozygous and in five women in heterozygous state. Four in silico prediction programs uniformally predicted p.G335E to be associated with loss-of-function of the protein. To clarify these predictions, we expressed the FANCB p.G335E protein in primary human FANCB deficient fibroblasts. Cell cycle analysis of these fibroblasts established that the FANCB p.G335E was functionally indistinguishable from the wildtype FANCB protein. Thus, functional studies in genetically defined cells showed that the p.G335E germline alteration in FANCB is not associated with impaired function.
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Carcinoma de Células Escamosas/genética , Proteínas del Grupo de Complementación de la Anemia de Fanconi/genética , Predisposición Genética a la Enfermedad/genética , Neoplasias de Cabeza y Cuello/genética , Mutación Missense , Adulto , Anciano , Carcinoma de Células Escamosas/patología , Ciclo Celular/genética , Femenino , Fibroblastos/metabolismo , Frecuencia de los Genes , Genotipo , Mutación de Línea Germinal , Neoplasias de Cabeza y Cuello/patología , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido SimpleAsunto(s)
Traumatismos en Atletas , Vértebras Cervicales/diagnóstico por imagen , Traumatismos Vertebrales , Adulto , Traumatismos en Atletas/diagnóstico por imagen , Traumatismos en Atletas/terapia , Femenino , Humanos , Traumatismos Vertebrales/diagnóstico por imagen , Traumatismos Vertebrales/terapia , Adulto JovenRESUMEN
Castleman's disease is a very rare and potentially severe lymphoproliferative disorder. First sign may be cervical lymphadenitis, requiring sufficient support in diagnosis and therapy by an ENT specialist. Based on a case series the current manuscript gives an overview of the symptoms, the course of disease and the therapy options. Patients with the first diagnosis of a Castleman's disease at the ENT clinic of Ulm University during the years 2011-2015 were included. The duration of symptoms, the applied diagnostic and therapeutic algorithms were evaluated. The duration of the rather weak symptoms was inhomogenous and lasted from 14 days to 14 years. After diagnostic exstirpation a hyaline-vascular type of Castelman's disease was confirmed in all cases. One of the 5 cases proved a multicentric type with an additional axillary manifestation, the others were monocentric. In all patients the diagnostic exstirpation was sufficient for therapy without need for adjuvant medication. At the time of publication all patients are in remission for at least 18 resp. 61 months. The ENT specialist encounters Castleman's disease mostly as a long-lasting swelling of cervical lymph nodes refractory to therapy and without severe concomittant symptoms. Due to potentially unfavorable outcomes a timely diagnostic lymph node exstirpation under general anesthesia is indicated. In most cases this surgical intervention represents the sufficient therapy.
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Enfermedad de Castleman/diagnóstico , Enfermedades Otorrinolaringológicas/diagnóstico , Enfermedades Raras , Adolescente , Adulto , Algoritmos , Animales , Enfermedad de Castleman/patología , Enfermedad de Castleman/cirugía , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Comunicación Interdisciplinaria , Colaboración Intersectorial , Escisión del Ganglio Linfático , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Enfermedades Otorrinolaringológicas/patología , Enfermedades Otorrinolaringológicas/cirugía , MascotasRESUMEN
During the last decades the incidence of diabetes has dramatically increased as well as the number of pregnant diabetic women. There is still missing data regarding patterns and shifts of immune cell populations due to pregnancy with or without diabetes. The study aimed to investigate the impact of pregnancy, type 1 diabetes (T1D) and gestational diabetes mellitus (GDM) on different immune cells in female. The number and proportion of CD3-, CD4-, CD8- and γδ T-cells as well as B-, NK-, NKT- and dendritic cells (DC) incl. rate of apoptosis was analyzed in peripheral blood samples from 24 non-pregnant women, 24 pregnant controls, 25 non-pregnant T1D, 18 women with GDM and 15 pregnant T1D (PT1D) women. Compared to healthy controls, healthy pregnant women had reduced numbers of lymphoid DC and γδ T-cells, while women with gestational diabetes presented with increased numbers of γδ T-cells. Pregnant women with T1D showed increased NKT cells and a decrease of NK cells compared to healthy pregnant or non-pregnant T1D women. Apoptosis of γδ T-cells in healthy pregnant women was found to be decreased in comparison to their non-pregnant controls while apoptosis of myeloid and lymphoid DC was increased in pregnant T1D in comparison to non-pregnant T1D. Those results may indicate that increased complication rates during diabetic pregnancies might be due to an impaired adaptation of the immune system.