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1.
Phys Rev Lett ; 125(22): 225502, 2020 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-33315424

RESUMO

Erosion of material by energetic ions, i.e., sputtering, is widely used in industry and research. Using experiments and simulations that, independently of each other, obtain the sputter yield of thousands of individual grains, we demonstrate here that the sputter yield for heavy keV ions on metals changes as a continuous function of the crystal direction. Moreover, we show that polycrystalline metals with randomly oriented grains do not sputter with the same yield as the amorphous material. The key reason for this is attributed to linear collision sequences rather than channeling.

2.
Pathologe ; 41(Suppl 1): 9-19, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31309284

RESUMO

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly, most PEComas are defined by a loss of function of the TSC1/TSC2 complex. Additionally, a distinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. By presenting a series of three case reports with distinct features, we demonstrate diagnostic pitfalls as well as the importance of molecular work-up of PEComas because of important therapeutic consequences.


Assuntos
Neoplasias de Células Epitelioides Perivasculares/patologia , Neoplasias de Células Epitelioides Perivasculares/terapia , Humanos
3.
Pathologe ; 40(4): 443-453, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-31165234

RESUMO

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly, most PEComas are defined by a loss of function of the TSC1/TSC2 complex. Additionally, a distinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. By presenting a series of three case reports with distinct features, we demonstrate diagnostic pitfalls as well as the importance of molecular work-up of PEComas because of important therapeutic consequences.


Assuntos
Neoplasias de Células Epitelioides Perivasculares , Biomarcadores Tumorais , Humanos , Neoplasias de Células Epitelioides Perivasculares/diagnóstico
4.
Rehabilitation (Stuttg) ; 55(6): 348-356, 2016 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-27923240

RESUMO

Objectives: The assessment of work pressures is of particular importance in psychosomatic rehabilitation. An established questionnaire is the Occupational Stress and Coping Inventory (German abbr. AVEM), but it is quite long and with regard to scoring time-consuming in routine clinical care. It should therefore be tested, whether a shortened version of the AVEM can be developed, which is able to assess the formerly described three second-order factors of the AVEM, namely Working Commitment, Resilience, and Emotions, sufficiently reliable and valid, and which also may be used for screening of patients with prominent work-related behavior and experience patterns. Methods: Data were collected at admission from consecutive samples of three hospitals of psychosomatic rehabilitation (N = 10,635 patients). The sample was randomly divided in two subsamples (design and validation sample). Using exploratory principal component analyses in the design sample, items with the highest factor loadings for the three new scales were selected and evaluated psychometrically using the validation sample. Possible Cut-off values ought to be derived from distribution patterns of scores in the scales. Relationships with sociodemographic, occupational and diagnosis-related characteristics, as well as with patterns of work-related experiences and behaviors are examined. Results: The three performed principal component analyses explained in the design sample on the respective first factor between 31 % and 34 % of the variance. The selected 20 items were assigned to the 3-factor structure in the validation sample as expected. The three new scales are sufficiently reliable with values of Cronbach's α between 0,84 and 0,88. The naming of the three new scales is based on the names of the secondary factors. Cut-off values for the identification of distinctive patient-reported data are proposed. Conclusion: Main advantages of the proposed shortened version AVEM-3D are that with a considerable smaller number of items the three main dimensions of relevant work-related behavior and experience patterns can be reliably measured. The proposed measure is simple and economic to use and interpret. Based on the present sample we provide means and standard deviations as reference at admission of psychosomatic rehabilitation. As a limitation it should be mentioned that further evaluation of reliability, validity and sensitivity to change restricted to the items of the shortened version is necessary. The practicability and validity of the proposed cut-off values cannot yet be conclusively assessed. Finally, the validity of the AVEM-3D in groups of indications other than psychosomatic patients and in healthy persons remains to be examined.


Assuntos
Programas de Rastreamento/métodos , Doenças Profissionais/diagnóstico , Doenças Profissionais/reabilitação , Psicometria/métodos , Estresse Psicológico/diagnóstico , Estresse Psicológico/reabilitação , Adaptação Psicológica , Feminino , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/psicologia , Inventário de Personalidade/estatística & dados numéricos , Reprodutibilidade dos Testes , Retorno ao Trabalho/psicologia , Retorno ao Trabalho/estatística & dados numéricos , Sensibilidade e Especificidade , Estresse Psicológico/psicologia , Inquéritos e Questionários
5.
Zentralbl Chir ; 141(3): 335-40, 2016 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-26863158

RESUMO

BACKGROUND: The surgical treatment of pleural empyema should be carried out depending on the stage of the disease and the patient's symptoms. The aim of this study was to evaluate the outcomes of surgical pleural empyema treatment. PATIENTS AND METHODS: Retrospective analysis of all patients with pleural empyema treated surgically between January 2008 and December 2013. The primary endpoint of the study was inpatient lethality. Secondary endpoints included duration of inpatient stay, type of treatment (surgical/conservative), proof of pathogen and type, alteration and duration of antibiotic therapy. RESULTS: Of 359 patients, 0.8 % (n = 3) had stage I empyema, 50.4 % (n = 181) had stage II and 48.7 % (n = 175) had stage III. The most frequent causes (32.4 %) included acute pneumonia (parapneumonic pleural empyema), surgery (usually thoracic) in 18.0 % of cases and previous pneumonia (postpneumonic pleural empyema) in 15.4 %. Surgery was performed in 86 % of cases (operative procedures: open thoracotomy 85 %, VATS 15 %). The average duration of inpatient stay was 20 days for stages II and III. Recovery following VATS was significantly shorter in stage II compared to thoracotomy (p = 0.022). Hospital lethality amounted to 7.0 % (25 patients). The lethality rate was 5.5 % (10/185) in stage II and 8.6 % (15/175) in stage III. Patients with confirmed pathogens had a significantly worse mortality rate across all stages (9.8 %) than patients with no confirmed pathogens (4.0 %, p = 0.034). Age, malignant underlying disease, multiple comorbidities, immunosuppression, a change in antibiotic regimens and sepsis were significant risk factors. CONCLUSION: The inpatient lethality of patients with pleural empyema correlates with the stage of the condition. Positive confirmation of pathogens, sepsis, a higher age, multiple comorbidities, malignant tumour disease, immunosuppression and a change of antibiotics are negative prognostic factors.


Assuntos
Infecções Bacterianas/classificação , Infecções Bacterianas/cirurgia , Empiema Pleural/classificação , Empiema Pleural/cirurgia , Adulto , Idoso , Antibacterianos/uso terapêutico , Infecções Bacterianas/mortalidade , Terapia Combinada , Empiema Pleural/mortalidade , Feminino , Alemanha , Mortalidade Hospitalar , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Pneumonectomia/métodos , Estudos Retrospectivos , Fatores de Risco , Toracentese/métodos , Cirurgia Torácica Vídeoassistida/métodos , Toracotomia/métodos
7.
J Surg Oncol ; 107(7): 735-40, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23386426

RESUMO

BACKGROUND: Assessing the pharmacokinetics of intrapleurally administered cisplatin during hyperthermic intrathoracic chemotherapy perfusion (HITHOC) following pleurectomy/decortication in patients with malignant pleural mesothelioma or advanced thymoma with pleural spread. METHODS: Pharmacokinetic analysis (ICP-MS) of intrapleural cisplatin with a dosage of 100 mg/m(2) (n = 5) or 150 mg/m(2) (n = 5) at 42°C perfusate temperature. Simultaneous pleural perfusion fluid and serum samples were collected at the beginning and every 15 min. Serum samples were collected at the end of the operation, 6, 12, and 24 hr postoperative. RESULTS: Mean cisplatin levels in the perfusate slightly decreased during the HITHOC. The mean area under the curve ratios (AUC perfusate :AUC serum ) of cisplatin were nearly similar. The mean AUCs of cisplatin in the perfusate were approximately 58 and 55 times greater than detected in the serum. The mean peak of cisplatin in the serum was reached after 1 hr of HITHOC. The AUC of cisplatin in the serum did not significantly differ (P = 0.18) between both groups up to 24 hr after perfusion. CONCLUSIONS: HITHOC with cisplatin provides a pharmacological advantage of high local intrapleural cisplatin concentrations. Elevation of the cisplatin dosage to 150 mg/m(2) did not lead to a significant increase of the systemic cisplatin concentration.


Assuntos
Antineoplásicos/administração & dosagem , Antineoplásicos/farmacocinética , Quimioterapia do Câncer por Perfusão Regional , Cisplatino/administração & dosagem , Cisplatino/farmacocinética , Hipertermia Induzida , Mesotelioma/tratamento farmacológico , Mesotelioma/cirurgia , Neoplasias Pleurais/tratamento farmacológico , Neoplasias Pleurais/cirurgia , Timoma/secundário , Neoplasias do Timo/patologia , Adulto , Idoso , Área Sob a Curva , Quimioterapia Adjuvante , Quimioterapia do Câncer por Perfusão Regional/métodos , Fatores de Confusão Epidemiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Pleurais/secundário , Estudos Prospectivos
8.
Zentralbl Chir ; 138 Suppl 1: S52-7, 2013 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-24150857

RESUMO

INTRODUCTION: Patients with pleural thymoma spread (Masaoka stage IV a) should be treated within a multimodal treatment regime. However, the extent of local surgical resection to achieve optimal tumour control remains controversial. PATIENTS AND METHODS: Prospective analysis between September 2008 and April 2013 of all patients with a Masaoka stage IV a thymoma, who underwent radical pleurectomy/decortication (P/D) followed by hyperthermic intrathoracic chemotherapy (HITHOC). RESULTS: A total of 11 patients (male n = 7; mean age 46.5 ± 11.4 years) with a primary stage IV a thymoma (n = 3) or thymoma with pleural relapse (n = 8) were included after successful transsternal thymoma resection. WHO histological classification was: B1 n = 1, B2 n = 6, B3 n = 3 and C n = 1. A radical P/D (5/11; 45 %) was extended with resection of the pericardium and diaphragm in 6/11 (55 %) patients. After surgical resection (91 % complete macroscopic R0/R1-resection) the HITHOC with cisplatin (100 mg/m2 body surface area (BSA) n = 7; 150 mg/m2 BSA n = 4) was performed for one hour at 42 °C. Operative revision was necessary in two patients (chylo- and hematothorax) with one patient also requiring temporary renal replacement therapy due acute renal failure (cisplatin 150 mg/m2 BSA). 30-day mortality was 0 %. Local recurrence (pulmonary n = 1, paravertebral n = 2) was documented in 3/10 (30 %) patients after R0/R1 resection. After a mean follow-up of 23 months the overall median survival was 27 months and 82 % (9/11) patients are still alive at the end of the study period. CONCLUSIONS: Masaoka stage IV a thymoma could be safely treated with lung-sparing radical P/D and HITHOC with cisplatin in a multimodality treatment regime. Early results with respect to recurrence and survival are encouraging, but further studies are warranted and we have to await long-term results.


Assuntos
Quimioterapia do Câncer por Perfusão Regional/métodos , Cisplatino/administração & dosagem , Hipertermia Induzida/métodos , Pleura/cirurgia , Neoplasias Pleurais/secundário , Neoplasias Pleurais/terapia , Timoma/secundário , Timoma/terapia , Neoplasias do Timo/terapia , Adulto , Cisplatino/efeitos adversos , Terapia Combinada , Relação Dose-Resposta a Droga , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Estadiamento de Neoplasias , Neoplasias Pleurais/mortalidade , Neoplasias Pleurais/patologia , Estudos Prospectivos , Taxa de Sobrevida , Timoma/mortalidade , Timoma/patologia , Neoplasias do Timo/mortalidade , Neoplasias do Timo/patologia
9.
Thorac Cardiovasc Surg ; 60(2): 145-9, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21692020

RESUMO

OBJECTIVE: The aim of this study was to analyze the clinicopathological factors, treatment strategies and survival rates after surgical resection of thymoma. METHODS: Between 12/1997 and 5/2010, 42 patients underwent surgical resection of the thymus. The presence of a thymoma was determined by histological examination in 23 patients, while patients with hyperplasia of the thymus (n = 19) were excluded from further analysis. RESULTS: Myasthenia gravis coexisted in 9/23 (39.1%) patients. Thymomas were classified according to the Masaoka staging system (I: n = 6 [26.1%], IIa: n = 7 [30.4%], IIb: n = 2 [8.7%], III: n = 1 [4.4%], IVa: n = 7 [30.4%]) and the WHO histological classification (A: n = 4 [17.4%], AB: n = 5 [21.7%], B1: n = 1 [4.4%], B2: n = 8 [34.8%], B3: n = 3 [13%], C: n = 2 [8.7%]). Recurrence of thymoma was documented in three (13%) patients. After a mean follow-up of 58.4 months, 21 (91.3%) patients are alive. The overall survival rate was 95% and 87.8%, at 2 and 5 years, respectively. The disease-free interval at 5 years was 85% for the 17 (73.9%) patients with complete resection. CONCLUSIONS: Surgical resection of thymoma is the preferred treatment, because it is safe and effective with a low rate of recurrence and a good long-term survival. Advanced and invasive thymomas require a multimodal approach for better local tumor control and further improvement of prognosis.


Assuntos
Timectomia , Timoma/cirurgia , Neoplasias do Timo/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Feminino , Alemanha , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/complicações , Recidiva Local de Neoplasia , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Timectomia/efeitos adversos , Timectomia/mortalidade , Timoma/complicações , Timoma/mortalidade , Timoma/patologia , Neoplasias do Timo/complicações , Neoplasias do Timo/mortalidade , Neoplasias do Timo/patologia , Fatores de Tempo , Resultado do Tratamento
10.
Chirurg ; 90(5): 403-410, 2019 May.
Artigo em Alemão | MEDLINE | ID: mdl-30276427

RESUMO

BACKGROUND: The lungs are the second most common organ site for metastases in patients with colorectal cancer (CRC). Lymph node metastasis of CRC represents a prognostic factor for survival. OBJECTIVE: The present study investigated the influence of CRC lymph node metastasis on lung metastasis, in particular thoracic lymph node metastasis. MATERIAL AND METHODS: A retrospective analysis of 88 patients (n = 56 male) with curative resection of lung metastases of CRC was performed. Primary endpoint: influence of lymph node status of CRC on lung metastases. Secondary endpoints: disease-free survival and overall survival. Statistical evaluation was carried out with SPSS. RESULTS: In 48 patients a positive lymph node status of CRC and in 9 patients an N+ status of lung metastases were determined. The lymph node status of the CRC significantly affected the incidence of synchronous metastases (p = 0.03), disease-free interval until formation of metachronous lung metastases (p = 0.012) and the overall survival of patients with CRC (p = 0.048). The 5­year survival rate for CRC patients with lung metastases was 48.7% after pulmonary metastasectomy. Thoracic lymph node involvement also significantly affected survival (p = 0.001). CONCLUSION: Screening for pulmonary metastases should be included in the staging and follow-up of all patients with CRC, especially in patients with a positive lymph node status of the CRC.


Assuntos
Neoplasias Colorretais , Neoplasias Pulmonares , Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Feminino , Humanos , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/cirurgia , Linfonodos , Masculino , Pneumonectomia , Prognóstico , Estudos Retrospectivos
11.
Rev Sci Instrum ; 89(10): 103501, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30399784

RESUMO

Second ion experiment for sputtering and TDS analysis is a high-current ion source for erosion and retention studies with focus on wall materials for fusion devices. The system is composed of a DuoPIGatron type ion source, three consecutive grids for ion extraction, acceleration and beam focusing, a differential pumping stage, a dipole magnet for mass filtering, a quadrupole doublet lens, a target chamber, a load-lock, and a chamber for thermal desorption spectrometry. The acceleration potential of the source can be varied between 500 V and 10 kV. The target chamber has a base pressure of 10-8 mbar and an operating pressure of 5 × 10-7 mbar. The target can be rotated to study angle-dependent effects and can be heated via electron-impact heating up to 1300 K for high temperature erosion and implantation studies. The target chamber is equipped with an in situ magnetic suspension balance. The operating parameters of the ion source were mapped to achieve the maximum ion current at the target for various gas species and accelerating potentials. The beam emittance for a D3 + ion beam was measured after deflection in the dipole magnet. This was used for ion beam simulations, which were instrumental for the design of the quadrupole lenses. If the quadrupole doublet is used, the ion flux to the target is increased by up to a factor of 4. Additionally, the relative population of neutral particles present in the beam at the target was quantified and is equal to 0.8% when averaged over the measurement positions. The typical beam footprint at the target under normal incidence has an area of 0.5 cm2. The ion current reaching the target increases with the accelerating potential. Due to this effect, the ion flux density at the target in the low-ion-impact-energy range can be increased by operating the source at a higher extraction potential and by applying a (decelerating) potential to the target. Ion impact energies as low as 200 eV/D are achieved this way with a D3 + current of 100 µA when focusing the beam with the quadrupole doublet lens, equating to a D particle flux density of 3.7 × 1019 m-2 s-1. At ion impact energies of 2 keV/D, the maximum achievable flux density with D3 + is 6 × 1019 D m-2 s-1. Experimental determination of sputter yields was performed via ex situ weight loss measurement for bulk Au samples, showing reasonably good agreement with simulations and experimental data from the literature.

12.
Rev Sci Instrum ; 88(3): 033508, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28372397

RESUMO

A new high speed gas valve was developed for disruption mitigation studies in the tokamak ASDEX Upgrade. The valve was designed to operate inside the vacuum vessel to reduce the time of flight of the injected gas and to prevent dispersion of the gas cloud before the gas reaches the plasma. A spring-driven mechanism was chosen for the valve as it is robust against the high magnetic fields and electromagnetic disturbances inside the vessel. The internal gas reservoir (128 cm3) of the valve, which holds the mitigation gas, is opened within 1.5 ms, and the maximal stroke between the valve plate and nozzle (diameter 13 mm) is 4.5 mm. This allows a peak flow rate of 72 kPam3/s after 1 ms which was determined both analytically and numerically. The highest gas velocity (approximately 560 m/s) is reached 0.6 ms after the valve is opened. The gas cloud expands in a pear shape with an opening angle of 49°.

13.
Chirurg ; 87(6): 489-96, 2016 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-27146388

RESUMO

Sternal osteomyelitis as a direct consequence of advanced mediastinitis or as in most cases after median sternotomy is still associated with a prolonged hospital stay, increased morbidity and postoperative mortality. Early diagnosis and an adequate surgical treatment are decisive for the prognosis. Prerequisites for a secondary stabilization of the chest wall using wires or plates are sterile wound conditions. Diverse reconstructive techniques are available for anterior chest wall reconstruction depending on the defect size and localization. The various reconstructive methods including local and free flap coverage are described in this review article.


Assuntos
Mediastinite/cirurgia , Osteomielite/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Esterno/cirurgia , Parede Torácica/cirurgia , Placas Ósseas , Fios Ortopédicos , Diagnóstico Precoce , Intervenção Médica Precoce , Retalhos de Tecido Biológico , Humanos , Mediastinite/diagnóstico
14.
Rev Sci Instrum ; 87(2): 023508, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26931850

RESUMO

Experiments have been performed at ASDEX Upgrade, aiming to investigate the impact of lithium in an all-metal-wall tokamak and attempting to enhance the pedestal operational space. For this purpose, a lithium pellet injector has been developed, capable of injecting pellets carrying a particle content ranging from 1.82 × 10(19) atoms (0.21 mg) to 1.64 × 10(20) atoms (1.89 mg). The maximum repetition rate is about 2 Hz. Free flight launch from the torus outboard side without a guiding tube was realized. In such a configuration, angular dispersion and speed scatter are low, and a transfer efficiency exceeding 90% was achieved in the test bed. Pellets are accelerated in a gas gun; hence special care was taken to avoid deleterious effects by the propellant gas pulse. Therefore, the main plasma gas species was applied as propellant gas, leading to speeds ranging from 420 m/s to 700 m/s. In order to minimize the residual amount of gas to be introduced into the plasma vessel, a large expansion volume equipped with a cryopump was added into the flight path. In view of the experiments, an optimal propellant gas pressure of 50 bars was chosen for operation, since at this pressure maximum efficiency and low propellant gas flux coincide. This led to pellet speeds of 585 m/s ± 32 m/s. Lithium injection has been achieved at ASDEX Upgrade, showing deep pellet penetration into the plasma, though pedestal broadening has not been observed yet.

15.
Chirurg ; 86(5): 432-6, 2015 May.
Artigo em Alemão | MEDLINE | ID: mdl-25920472

RESUMO

BACKGROUND: Persistent postoperative pleural effusion can occur after thoracic surgery and might lead to progressive dyspnea with a subsequent complicated and prolonged hospital stay. OBJECTIVES: The etiology, prevention and therapy of persistent pleural effusion after thoracic surgical interventions are presented. MATERIAL AND METHODS: A selective literature search was carried out in Medline (pleural effusion, pleural empyema and chylothorax). RESULTS: Persistent pleural effusions were observed especially after lung resection due to disorders in the pleural fluid balance and reduced postoperative lung expansion. An adequate chest tube management and postoperative physical therapy can reduce the incidence of postoperative pleural effusion. Relevant postoperative bleeding causes a hemothorax. An infection of the pleural effusion is defined as pleural empyema. These patients suffer from a significantly higher postoperative morbidity and require an adjusted multimodal treatment. Intraoperative injury of the thoracic duct can result in a postoperative chylothorax, which should be diagnosed early with specific laboratory investigations of the milky fluid. Interventional radiological procedures have now taken their place alongside conservative measures and surgical procedures in the therapy of chylothorax. CONCLUSION: Persistent postoperative pleural effusion after thoracic surgical interventions warrant early diagnosis and an adjusted treatment in order to avoid further complications and to shorten the postoperative hospital stay.


Assuntos
Derrame Pleural/etiologia , Complicações Pós-Operatórias/etiologia , Procedimentos Cirúrgicos Torácicos/efeitos adversos , Quilotórax/etiologia , Quilotórax/prevenção & controle , Quilotórax/terapia , Dispneia/etiologia , Dispneia/prevenção & controle , Dispneia/terapia , Diagnóstico Precoce , Intervenção Médica Precoce , Empiema Pleural/etiologia , Empiema Pleural/prevenção & controle , Empiema Pleural/terapia , Humanos , Tempo de Internação , Derrame Pleural/prevenção & controle , Derrame Pleural/terapia , Pneumonectomia/efeitos adversos , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/terapia , Ducto Torácico/lesões
16.
Am J Med Genet ; 31(2): 375-8, 1988 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-3068989

RESUMO

We report on an 22-month-old white girl with tetraploidy who is growing well, but who is extremely delayed in psychomotor development. When counseling parents it is important to realize that, although quite rare, tetraploid individuals can be born alive and live for at least 22 months. The implications are also relevant to prenatal diagnosis.


Assuntos
Anormalidades Múltiplas/genética , Poliploidia , Feminino , Humanos , Recém-Nascido , Masculino
17.
Am J Med Genet ; 8(2): 167-72, 1981.
Artigo em Inglês | MEDLINE | ID: mdl-7282771

RESUMO

The mean survival in Trisomy-13-syndrome patients is reported to be 130 days. We have diagnosed 21 cases of this syndrome in this institution (11 females and 10 males); 15 patients had regular trisomy 13 and 6 had translocation-trisomy 13 karyotypes. The mean survival of the 19 patients who died was 97.05 days; translocation patients survived longer than regular trisomy patients. The oldest living patients with trisomy 13 are a girl 19 and a boy 11 years old. Both are black, have regular trisomy 13 karyotypes and have had most of the manifestations of the syndrome. No mosaicism was detected in repeated cytogenetic studies. The 19-year-old patient is the oldest known living person with regular trisomy 13.


Assuntos
Cromossomos Humanos 13-15 , Trissomia , Anormalidades Múltiplas/genética , Adulto , Criança , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Síndrome
18.
Am J Med Genet ; 1(3): 271-7, 1978.
Artigo em Inglês | MEDLINE | ID: mdl-677166

RESUMO

An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos 1-3 , Deficiência Intelectual/genética , Translocação Genética , Trissomia , Cromossomos , Dermatoglifia , Seguimentos , Humanos , Lactente , Cariotipagem , Masculino
19.
Am J Med Genet ; 8(1): 111-5, 1981.
Artigo em Inglês | MEDLINE | ID: mdl-7246600

RESUMO

Duplication of the distal part of 17q has been reported in 4 patients [1,2]. We are reporting clinical, autopsy, and cytogenetic data on an additional patient whose condition was due to a familial translocation in which the patient's chromosome constitution is 46,XX, der(4),t(4;17)(p16;q21) pat. The phenotype of the five known patients with this duplication is very similar, and their manifestations are distinct enough to be clinically recognizable. Abnormalities common to all five patients are severe growth impairment, craniofacial anomalies with severe hypertelorism, frontal bossing and temporal narrowness, a widow's peak, narrow palpebral fissures, a thin upper lip overlapping a thin lower lip with down-turned corners of the mouth, micrognathia, apparently low-set and deformed ears, short webbed neck, and hyperlaxity of the limbs.


Assuntos
Cromossomos Humanos 16-18 , Replicação do DNA , Anormalidades Múltiplas/genética , Bandeamento Cromossômico , Feminino , Humanos , Recém-Nascido , Fenótipo , Translocação Genética
20.
Am J Med Genet ; 47(2): 294-8, 1993 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-8213923

RESUMO

Trisomy 16 is common in embryos and fetuses aborted early during development. Mosaicism for trisomy 16 is sometimes encountered during prenatal diagnosis, particularly with chorionic villi biopsy specimens, and, until recently, was thought to be confined to the placenta. However, recently, several liveborn infants with trisomy 16 mosaicism have been described. We report on an additional liveborn infant with trisomy 16 mosaicism and compare the clinical findings with those of the previously reported cases in an attempt to delineate a mosaic trisomy 16 syndrome. Cytogenetic analysis from our patient showed that there was a different proportion of abnormal cells in different tissues and that the anomaly was undetectable in blood lymphocyte cultures. This observation was consistent with some of the previous reports. DNA analysis of parents and child was carried out using a polymorphic dinucleotide marker that maps to the long arm of chromosome 16. This analysis showed that the extra chromosome 16 in the infant was maternal in origin and suggested that the nondisjunction was probably a first meiotic division error. Our results suggest that an investigation of multiple tissues is required before concluding that mosaicism is confined to the placenta. We conclude that a finding of trisomy 16 mosaicism at prenatal diagnosis should be regarded with extreme caution. This diagnosis may be associated with a highly variable phenotype that may occasionally be compatible with extrauterine life.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 16 , Mosaicismo , Trissomia , Feminino , Retardo do Crescimento Fetal/genética , Humanos , Recém-Nascido , Mães , Não Disjunção Genética , Fenótipo
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