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1.
J Clin Med ; 13(8)2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38673527

RESUMEN

Background: Extracorporeal life support (ECLS) therapy for refractory postcardiotomy cardiogenic shock (rPCS) is associated with high early mortality rates. This study aimed to identify negative predictors of mid-term survival and to assess health-related quality of life (HRQoL) and recovery of the survivors. Methods: Between 2017 and 2020, 142 consecutive patients received ECLS therapy following cardiac surgery. The median age was 66.0 [57.0-73.0] years, 67.6% were male and the median EuroSCORE II was 10.5% [4.2-21.3]. In 48 patients, HRQoL was examined using the 36-Item Short Form Survey (SF-36) and the modified Rankin-Scale (mRS) at a median follow-up time of 2.2 [1.9-3.2] years. Results: Estimated survival rates at 3, 12, 24 and 36 months were 47%, 46%, 43% and 43% (SE: 4%). Multivariable Cox Proportional Hazard regression analysis revealed preoperative EuroSCORE II (p = 0.013), impaired renal function (p = 0.010), cardiopulmonary bypass duration (p = 0.015) and pre-ECLS lactate levels (p = 0.004) as independent predictors of mid-term mortality. At the time of follow-up, 83.3% of the survivors were free of moderate to severe disability (mRS < 3). SF-36 analysis showed a physical component summary of 45.5 ± 10.2 and a mental component summary of 50.6 ± 12.5. Conclusions: Considering the disease to be treated, ECLS for rPCS is associated with acceptable mid-term survival, health-related quality of life and functional status. Preoperative EuroSCORE II, impaired renal function, cardiopulmonary bypass duration and lactate levels prior to ECLS implantation were identified as negative predictors and should be included in the decision-making process.

2.
Anaesthesiologie ; 72(1): 3-12, 2023 01.
Artículo en Alemán | MEDLINE | ID: mdl-36454255

RESUMEN

Thrombotic microangiopathies (TMA) are rare diseases, which are defined by the triad microangiopathic hemolytic anemia, thrombocytopenia and organ damage, and are associated with high morbidity and mortality. The recognition of a TMA and the distinction of important differential diagnoses are key factors, particularly in a perioperative context and in routine clinical intensive care. The further differentiation of the different TMA subtypes, such as thrombotic thrombocytopenic purpura (TTP), Shiga toxin-producing Escherichia coli hemolytic uremic syndrome (STEC-HUS) and atypical hemolytic uremic syndrome (aHUS), based on the underlying pathophysiology and the development of new targeted treatment options in recent years have significantly improved the prognosis. A close interdisciplinary cooperation between critical care specialists and specialist disciplines experienced in the treatment of TMA, is essential for a prompt diagnosis and the initiation of the appropriate treatment.


Asunto(s)
Síndrome Hemolítico Urémico Atípico , Microangiopatías Trombóticas , Humanos , Anemia Hemolítica/diagnóstico , Síndrome Hemolítico Urémico Atípico/diagnóstico , Diagnóstico Diferencial , Púrpura Trombocitopénica Trombótica/diagnóstico , Escherichia coli Shiga-Toxigénica , Microangiopatías Trombóticas/diagnóstico , Cuidados Críticos , Trombocitopenia
3.
Thorac Cardiovasc Surg ; 70(5): 384-391, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35948015

RESUMEN

BACKGROUND: We analyzed the short-term and mid-term outcomes as well as the health-related quality of life (HRQOL) of octogenarians undergoing elective and urgent cardiac surgery. PATIENTS AND METHODS: We retrospectively identified 688 consecutive octogenarians who underwent cardiac surgery at our center between January 2012 and December 2019. A propensity score matching was performed which resulted in the formation of 80 matched pairs. The patients were interviewed and the Short Form-36 survey was used to assess the HRQOL of survivors. Multivariable analysis incorporated binary logistic regression using a forward stepwise (conditional) model. RESULTS: The median age of the matched cohort was 82 years (p = 0.937), among whom, 38.8% of patients were female (p = 0.196). The median EuroSCORE II of the matched cohort was 19.4% (10.1-39.1%). The duration of postoperative mechanical ventilation was found to be independently associated with in-hospital mortality (odds ratio: 1.01 [95% confidence interval: 1.0-1.02], p = 0.038). The survival rates at 1, 2, and 5 years was 75.0, 72.0, and 46.0%, respectively. There was no difference in the total survival between the groups (p = 0.080). The physical health summary score was 41 (30-51) for the elective patients and 42 (35-49) for the nonelective octogenarians (p = 0.581). The median mental health summary scores were 56 (48-60) and 58 (52-60), respectively (p = 0.351). CONCLUSION: Cardiac surgery can be performed in octogenarians with good results and survivors enjoy a good quality of life; however, the indication for surgery or especially for escalation of therapy should always be made prudently, reserved, and in consideration of patient expectations.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Calidad de Vida , Factores de Edad , Anciano de 80 o más Años , Procedimientos Quirúrgicos Cardíacos/efectos adversos , Femenino , Humanos , Masculino , Octogenarios , Complicaciones Posoperatorias , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento
4.
Interact Cardiovasc Thorac Surg ; 34(2): 258-266, 2022 01 18.
Artículo en Inglés | MEDLINE | ID: mdl-34414411

RESUMEN

OBJECTIVES: Acute kidney injury (AKI) following surgery involving the heart-lung-machine is associated with high mortality and morbidity. In addition to the known mechanisms, thrombotic microangiopathy (TMA) triggered by the dysregulation of complement activation was recently described as another pathophysiological pathway for AKI following aortic surgery. The aim of this retrospective study was to analyse incidence, predictors and outcome in these patients. METHODS: Between January 2018 and September 2019, consecutive patients undergoing aortic surgery requiring hypothermic circulatory arrest were retrospectively reviewed. If suspected, diagnostic algorithm was initiated to identify a TMA and its risk factors, and postoperative outcome parameters were comparably investigated. RESULTS: The incidence of TMA in the analysed cohort (n = 247) was 4.5%. Multivariable logistic regression indicated female gender {odds ratio (OR) 4.905 [95% confidence interval (CI) 1.234-19.495], P = 0.024} and aortic valve replacement [OR 8.886 (95% CI 1.030-76.660), P = 0.047] as independent predictors of TMA, while cardiopulmonary bypass, X-clamp and hypothermic circulatory arrest times showed no statistically significance. TMA resulted in postoperative AKI (82%), neurological disorders (73%) and thrombocytopaenia [31 (interquartile range 25-42) G/l], corresponding to the diagnostic criteria. Operative mortality and morbidity were equal to patients without postoperative TMA, despite a higher incidence of re-exploration for bleeding (27 vs 6%; P = 0.027). After 6 months, survival, laboratory parameters and need for dialysis were comparable between the groups. CONCLUSIONS: TMA is a potential differential diagnosis for the cause of AKI following aortic surgery regardless of the hypothermic circulatory arrest time. Timely diagnosis and appropriate treatment resulted in a comparable outcome concerning mortality and renal function.


Asunto(s)
Lesión Renal Aguda , Aneurisma de la Aorta Torácica , Microangiopatías Trombóticas , Lesión Renal Aguda/diagnóstico , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/etiología , Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/cirugía , Paro Circulatorio Inducido por Hipotermia Profunda/efectos adversos , Paro Circulatorio Inducido por Hipotermia Profunda/métodos , Femenino , Humanos , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Microangiopatías Trombóticas/complicaciones , Microangiopatías Trombóticas/etiología , Resultado del Tratamiento
5.
Diagnostics (Basel) ; 11(6)2021 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-34205176

RESUMEN

(1) Background: Extracorporeal membrane oxygenation (ECMO) therapy in intensive care units (ICUs) remains the last treatment option for Coronavirus disease 2019 (COVID-19) patients with severely affected lungs but is highly resource demanding. Early risk stratification for the need of ECMO therapy upon admission to the hospital using artificial intelligence (AI)-based computed tomography (CT) assessment and clinical scores is beneficial for patient assessment and resource management; (2) Methods: Retrospective single-center study with 95 confirmed COVID-19 patients admitted to the participating ICUs. Patients requiring ECMO therapy (n = 14) during ICU stay versus patients without ECMO treatment (n = 81) were evaluated for discriminative clinical prediction parameters and AI-based CT imaging features and their diagnostic potential to predict ECMO therapy. Reported patient data include clinical scores, AI-based CT findings and patient outcomes; (3) Results: Patients subsequently allocated to ECMO therapy had significantly higher sequential organ failure (SOFA) scores (p < 0.001) and significantly lower oxygenation indices on admission (p = 0.009) than patients with standard ICU therapy. The median time from hospital admission to ECMO placement was 1.4 days (IQR 0.2-4.0). The percentage of lung involvement on AI-based CT assessment on admission to the hospital was significantly higher in ECMO patients (p < 0.001). In binary logistic regression analyses for ECMO prediction including age, sex, body mass index (BMI), SOFA score on admission, lactate on admission and percentage of lung involvement on admission CTs, only SOFA score (OR 1.32, 95% CI 1.08-1.62) and lung involvement (OR 1.06, 95% CI 1.01-1.11) were significantly associated with subsequent ECMO allocation. Receiver operating characteristic (ROC) curves showed an area under the curve (AUC) of 0.83 (95% CI 0.73-0.94) for lung involvement on admission CT and 0.82 (95% CI 0.72-0.91) for SOFA scores on ICU admission. A combined parameter of SOFA on ICU admission and lung involvement on admission CT yielded an AUC of 0.91 (0.84-0.97) with a sensitivity of 0.93 and a specificity of 0.84 for ECMO prediction; (4) Conclusions: AI-based assessment of lung involvement on CT scans on admission to the hospital and SOFA scoring, especially if combined, can be used as risk stratification tools for subsequent requirement for ECMO therapy in patients with severe COVID-19 disease to improve resource management in ICU settings.

6.
Obes Med ; 25: 100358, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34250312

RESUMEN

AIMS: This study aimed to determine whether anthropometric markers of thoracic skeletal muscle and abdominal visceral fat tissue correlate with outcome parameters in critically ill COVID-19 patients. METHODS: We retrospectively analysed thoracic CT-scans of 67 patients in four ICUs at a university hospital. Thoracic skeletal muscle (total cross-sectional area (CSA); pectoralis muscle area (PMA)) and abdominal visceral fat tissue (VAT) were quantified using a semi-automated method. Point-biserial-correlation-coefficient, Spearman-correlation-coefficient, Wilcoxon rank-sum test and logistic regression were used to assess the correlation and test for differences between anthropometric parameters and death, ventilator- and ICU-free days and initial inflammatory laboratory values. RESULTS: Deceased patients had lower CSA and PMA values, but higher VAT values (p < 0.001). Male patients with higher CSA values had more ventilator-free days (p = 0.047) and ICU-free days (p = 0.017). Higher VAT/CSA and VAT/PMA values were associated with higher mortality (p < 0.001), but were negatively correlated with ICU length of stay in female patients only (p < 0.016). There was no association between anthropometric parameters and initial inflammatory biomarker levels. Logistic regression revealed no significant independent predictor for death. CONCLUSION: Our study suggests that pathologic body composition assessed by planimetric measurements using thoracic CT-scans is associated with worse outcome in critically ill COVID-19 patients.

7.
Ann Intensive Care ; 11(1): 116, 2021 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-34319491

RESUMEN

BACKGROUND: Percutaneous dilatational tracheotomy (PDT) has become an established procedure in intensive care units (ICU). However, the safety of this method has been under debate given the growing number of critically ill patients with high bleeding risk receiving anticoagulation, dual antiplatelet therapy (DAPT) or even a combination of both, i.e. triple therapy. Therefore, the purpose of this study, including such a high proportion of patients on antithrombotic therapy, was to investigate whether PDT in high-risk ICU patients is associated with elevated procedural complications and to analyse the risk factors for bleeding occurring during and after PDT. METHODS: PDT interventions conducted in ICUs at 12 European sites between January 2016 and October 2019 were retrospectively analysed for procedural complications. For subgroup analyses, patient stratification into clinically relevant risk groups based on anticoagulation and antiplatelet treatment regimens was performed and the predictors of bleeding occurrence were analysed. RESULTS: In total, 671 patients receiving PDT were included and stratified into four clinically relevant antithrombotic treatment groups: (1) intravenous unfractionated heparin (iUFH, prophylactic dosage) (n = 101); (2) iUFH (therapeutic dosage) (n = 131); (3) antiplatelet therapy (aspirin and/or P2Y12 receptor inhibitor) with iUFH (prophylactic or therapeutic dosage) except for triple therapy (n = 290) and (4) triple therapy (DAPT with iUFH in therapeutic dosage) (n = 149). Within the whole cohort, 74 (11%) bleedings were reported to be procedure-related. Bleeding occurrence during and after PDT was independently associated with low platelet count (OR 0.73, 95% CI [0.56, 0.92], p = 0.009), chronic kidney disease (OR 1.75, 95% CI [1.01, 3.03], p = 0.047) and previous stroke (OR 2.13, 95% CI [1.1, 3.97], p = 0.02). CONCLUSION: In this international, multicenter study bronchoscopy-guided PDT was a safe and low-complication airway management option, even in a cohort of high risk for bleeding on cardiovascular ICUs. Low platelet count, chronic kidney disease and previous stroke were identified as independent risk factors of bleeding during and after PDT but not triple therapy.

8.
Diagnostics (Basel) ; 12(1)2021 Dec 22.
Artículo en Inglés | MEDLINE | ID: mdl-35054177

RESUMEN

(1) Background: Respiratory insufficiency with acute respiratory distress syndrome (ARDS) and multi-organ dysfunction leads to high mortality in COVID-19 patients. In times of limited intensive care unit (ICU) resources, chest CTs became an important tool for the assessment of lung involvement and for patient triage despite uncertainties about the predictive diagnostic value. This study evaluated chest CT-based imaging parameters for their potential to predict in-hospital mortality compared to clinical scores. (2) Methods: 89 COVID-19 ICU ARDS patients requiring mechanical ventilation or continuous positive airway pressure mask ventilation were included in this single center retrospective study. AI-based lung injury assessment and measurements indicating pulmonary hypertension (PA-to-AA ratio) on admission CT, oxygenation indices, lung compliance and sequential organ failure assessment (SOFA) scores on ICU admission were assessed for their diagnostic performance to predict in-hospital mortality. (3) Results: CT severity scores and PA-to-AA ratios were not significantly associated with in-hospital mortality, whereas the SOFA score showed a significant association (p < 0.001). In ROC analysis, the SOFA score resulted in an area under the curve (AUC) for in-hospital mortality of 0.74 (95%-CI 0.63-0.85), whereas CT severity scores (0.53, 95%-CI 0.40-0.67) and PA-to-AA ratios (0.46, 95%-CI 0.34-0.58) did not yield sufficient AUCs. These results were consistent for the subgroup of more critically ill patients with moderate and severe ARDS on admission (oxygenation index <200, n = 53) with an AUC for SOFA score of 0.77 (95%-CI 0.64-0.89), compared to 0.55 (95%-CI 0.39-0.72) for CT severity scores and 0.51 (95%-CI 0.35-0.67) for PA-to-AA ratios. (4) Conclusions: Severe COVID-19 disease is not limited to lung (vessel) injury but leads to a multi-organ involvement. The findings of this study suggest that risk stratification should not solely be based on chest CT parameters but needs to include multi-organ failure assessment for COVID-19 ICU ARDS patients for optimized future patient management and resource allocation.

9.
Anaesthesist ; 70(7): 573-581, 2021 Jul.
Artículo en Alemán | MEDLINE | ID: mdl-33369696

RESUMEN

BACKGROUND: In a pandemic situation the overall mortality rate is of considerable interest; however, these data must always be seen in relation to the given healthcare system and the availability of local level of care. A recently published German data evaluation of more than 10,000 COVID-19 patients treated in 920 hospitals showed a high mortality rate of 22% in hospitalized patients and of more than 50% in patients requiring invasive ventilation. Because of the high infection rates in Bavaria, a large number of COVID-19 patients with considerable severity of disease were treated at the intensive care units of the LMU hospital. The LMU hospital is a university hospital and a specialized referral center for the treatment of patients with acute respiratory distress syndrome (ARDS). OBJECTIVE: Data of LMU intensive care unit (ICU) patients were systematically evaluated and compared with the recently published German data. METHODS: Data of all COVID-19 patients with invasive and noninvasive ventilation and with completed admission at the ICU of the LMU hospital until 31 July 2020 were collected. Data were processed using descriptive statistics. RESULTS: In total 70 critically ill patients were included in the data evaluation. The median SAPS II on admission to the ICU was 62 points. The median age was 66 years and 81% of the patients were male. More than 90% were diagnosed with ARDS and received invasive ventilation. Treatment with extracorporeal membrane oxygenation (ECMO) was necessary in 10% of the patients. The median duration of ventilation was 16 days, whereby 34.3% of patients required a tracheostomy. Of the patients 27.1% were transferred to the LMU hospital from external hospitals with reference to our ARDS/ECMO program. Patients from external hospitals had ARDS of higher severity than the total study population. In total, nine different substances were used for virus-specific treatment of COVID-19. The most frequently used substances were hydroxychloroquine and azithromycin. Immunomodulatory treatment, such as Cytosorb® (18.6%) and methylprednisolone (25.7%) were also frequently used. The overall in-hospital mortality rate of ICU patients requiring ventilation was 28.6%. The mortality rates of patients from external hospitals, patients with renal replacement therapy and patients with ECMO therapy were 47.4%, 56.7% and 85.7%, respectively. CONCLUSION: The mortality rate in the ventilated COVID-19 intensive care patients was considerably different from the general rate in Germany. The data showed that treatment in an ARDS referral center could result in a lower mortality rate. Low-dose administration of steroids may be another factor to improve patient outcome in a preselected patient population. In the authors' opinion, critically ill COVID-19 patients should be treated in an ARDS center provided that sufficient resources are available.


Asunto(s)
COVID-19/terapia , Respiración Artificial/estadística & datos numéricos , Anciano , Anciano de 80 o más Años , Antivirales/uso terapéutico , COVID-19/complicaciones , COVID-19/mortalidad , Enfermedad Crítica/terapia , Oxigenación por Membrana Extracorpórea , Femenino , Alemania , Mortalidad Hospitalaria , Hospitales Universitarios , Humanos , Factores Inmunológicos/uso terapéutico , Unidades de Cuidados Intensivos/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Transferencia de Pacientes , Terapia de Reemplazo Renal/estadística & datos numéricos , Síndrome de Dificultad Respiratoria/etiología , Síndrome de Dificultad Respiratoria/terapia , Resultado del Tratamiento
10.
Diagnostics (Basel) ; 10(12)2020 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-33352758

RESUMEN

(1) Background: To assess the value of chest CT imaging features of COVID-19 disease upon hospital admission for risk stratification of invasive ventilation (IV) versus no or non-invasive ventilation (non-IV) during hospital stay. (2) Methods: A retrospective single-center study was conducted including all patients admitted during the first three months of the pandemic at our hospital with PCR-confirmed COVID-19 disease and admission chest CT scans (n = 69). Using clinical information and CT imaging features, a 10-point ordinal risk score was developed and its diagnostic potential to differentiate a severe (IV-group) from a more moderate course (non-IV-group) of the disease was tested. (3) Results: Frequent imaging findings of COVID-19 pneumonia in both groups were ground glass opacities (91.3%), consolidations (53.6%) and crazy paving patterns (31.9%). Characteristics of later stages such as subpleural bands were observed significantly more often in the IV-group (52.2% versus 26.1%, p = 0.032). Using information directly accessible during a radiologist's reporting, a simple risk score proved to reliably differentiate between IV- and non-IV-groups (AUC: 0.89 (95% CI 0.81-0.96), p < 0.001). (4) Conclusions: Information accessible from admission CT scans can effectively and reliably be used in a scoring model to support risk stratification of COVID-19 patients to improve resource and allocation management of hospitals.

11.
J Clin Med ; 9(9)2020 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-32911781

RESUMEN

BACKGROUND: Acute kidney injury (AKI) after cardiovascular surgery (CVS) infers high morbidity and mortality and may be caused by thrombotic microangiopathy (TMA). This study aimed to assess incidence, risk factors, kidney function, and mortality of patients with a postoperative TMA as possible cause of severe AKI following cardiovascular surgery. METHODS: We analyzed retrospectively all patients admitted to the ICU after a cardiovascular procedure between 01/2018 and 03/2019 with severe AKI and need for renal replacement therapy (RRT). TMA was defined as post-surgery-AKI including need for RRT, hemolytic anemia, and thrombocytopenia. TMA patients were compared to patients with AKI requiring RRT without TMA. RESULTS: Out of 893 patients, 69 (7.7%) needed RRT within one week after surgery due to severe AKI. Among those, 15 (21.7%) fulfilled TMA criteria. Aortic surgery suggested an increased risk for TMA (9/15 (60.0%) vs. 7/54 (31.5%), OR 3.26, CI 1.0013-10.64). Ten TMA patients required plasmapheresis and/or eculizumab, and five recovered spontaneously. Preoperative kidney function was significantly better in TMA patients than in controls (eGFR 92 vs. 60.5 mL/min, p = 0.004). However, postoperative TMA resulted in a more pronounced GFR loss (ΔeGFR -54 vs. -17 mL/min, p = 0.062). There were no deaths in the TMA group. CONCLUSION: Our findings suggest TMA as an important differential diagnosis of severe AKI following cardiovascular surgery, which may be triggered by aortic surgery. Therefore, early diagnosis and timely treatment of TMA could reduce kidney damage and improve mortality of AKI following cardiovascular surgery, which should be further investigated.

12.
ASAIO J ; 57(4): 341-3, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21654352

RESUMEN

In acute respiratory distress syndrome (ARDS) with severe hypoxemia or respiratory acidosis, veno-venous extracorporeal membrane oxygenation (VV-ECMO) ensures oxygenation and decarboxylation. Commonly, simultaneous cannulation of jugular and femoral veins is used for VV-ECMO. A recently introduced dual-lumen cannula for VV-ECMO promises single vessel access through the right internal jugular vein and patient ambulation. However, correct direction of the reinfusion jet toward the tricuspid valve during ECMO treatment requires more demanding cannula placement control. We present a new ultrasound-guided technique for the placement of a dual-lumen VV-ECMO cannula in a patient with ARDS and extreme obesity.


Asunto(s)
Catéteres , Ecocardiografía Transesofágica/métodos , Oxigenación por Membrana Extracorpórea/métodos , Obesidad/terapia , Síndrome de Dificultad Respiratoria/terapia , Diseño de Equipo , Femenino , Humanos , Venas Yugulares/patología , Persona de Mediana Edad , Obesidad/complicaciones , Síndrome de Dificultad Respiratoria/complicaciones , Válvula Tricúspide/patología , Ultrasonido
13.
Ann Neurol ; 51(1): 14-8, 2002 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11782979

RESUMEN

The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.


Asunto(s)
Cromosomas Humanos Par 1 , Salud de la Familia , Ligamiento Genético , Enfermedad de Parkinson/genética , Adulto , Edad de Inicio , Antiparkinsonianos/uso terapéutico , Europa (Continente) , Femenino , Efecto Fundador , Haplotipos , Humanos , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/tratamiento farmacológico , Linaje , Fenotipo
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