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1.
Bratisl Lek Listy ; 115(10): 653-9, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25573734

RESUMEN

BACKGROUND: The impact of different approaches to fluid management during intraoperative volume resuscitation in patients undergoing major elective surgery is poorly defined. We compared volume effectiveness of crystalloid and colloid substitution aimed to maintain the cardiac index (CI) between 2.6 and 3.8 l/min/m(2) as measured by transesophageal Doppler (TED). METHODS: A total of 115 urological patients were enrolled in the prospective randomized trial and then randomized into 2 groups, one with volume therapy based on crystalloids (n = 57) and the other with colloids (n = 58). A TED probe was inserted and then hemodynamic optimization (therapy with Ringer's solution or hydroxyethyl starch 6 % 130/0.4 and administration of vasoactive drugs) was started according to TED variables to maintain the CI between 2.6 and 3.8 l/min/m(2). RESULTS: We observed high incidence of CI < 2.6 l/min/m(2) after induction of anesthesia (75 %) in both groups. There were no significant differences in demographic characteristics, ASA classification, length of surgery, estimated blood loss and the CI during surgery. To maintain the CI within the requested interval, significantly different amounts of crystalloids were needed as compared to colloid (median: 5000 ml vs 1500 ml). In the CRY group, more patients were treated by vasodilatators (40.4 vs 20.7 %). CONCLUSIONS: The study confirmed that crystalloids and colloids are effective in correcting flow-related perfusion abnormalities. The significant difference between volumes of crystalloids and colloids proved their different characteristics such as unequal distribution between compartments. The expansion of therapeutic algorithm by using vasoactive drugs allows us to avoid adverse events resulting from fluid overload (Tab. 1, Fig. 5, Ref. 35).


Asunto(s)
Fluidoterapia/métodos , Hipovolemia/complicaciones , Hipovolemia/terapia , Cuidados Intraoperatorios/métodos , Enfermedades Urológicas/cirugía , Procedimientos Quirúrgicos Urológicos , Adulto , Anciano , Anciano de 80 o más Años , Coloides/uso terapéutico , Soluciones Cristaloides , Procedimientos Quirúrgicos Electivos , Femenino , Hemodinámica , Humanos , Soluciones Isotónicas/uso terapéutico , Masculino , Persona de Mediana Edad , Atención Dirigida al Paciente/métodos , Estudios Prospectivos , Enfermedades Urológicas/complicaciones , Vasodilatadores/uso terapéutico
2.
Vnitr Lek ; 59(11): 962-70, 2013 Nov.
Artículo en Cs | MEDLINE | ID: mdl-24279439

RESUMEN

INTRODUCTION: Severe sepsis is still associated with significant morbidity and mortality, which is however different, as well as its management, depending on the region. What is the situation in the Czech Republic and what is the character of patients with severe sepsis is currently not known. The aim of the project is to describe the processes of care, outcome and characteristics of patients with severe sepsis admitted to the intensive care department of the Czech Republic. METHODS: This is a multicentre and observational project with retrospective enrollment of patients who meet the criteria for severe sepsis before or within 24 hours after admission to selected intensive care units (ICU EPOSS). RESULTS: 394 patients were analyzed. Median age at admission was 66 (56- 76) years, males predominated (58.9%) and the median APACHE II score on admission was 25 (19- 32). Patients were predominantly medical (56.9%) and most were secondary admitted from other ICU (53.6%). Meeting the criteria of severe sepsis was most frequently within the period (± 4 hours) of admission the EPOSS ICU (77.6%). Median total fluid intake during the first 24 hours was 6,680 (4,840- 9,450) ml. Most patients required mechanical ventilation (58.4%). Compliance with the resuscitation bundle of severe sepsis in our group was very good and was associated with lower mortality of patients. Most frequently, the EPOSS ICU length of stay (LOS) was 7 (3- 15) days and median hospital LOS was 13 (8- 28) days. Hospital mortality in our cohort was 35.8%. CONCLUSION: Introducing the project, which in its first stage obtained valuable and internationally comparable data about patients with severe sepsis admitted to the involved ICU in the Czech Republic.


Asunto(s)
Infección Hospitalaria/terapia , Unidades de Cuidados Intensivos , Sepsis/terapia , Adulto , Anciano , Infección Hospitalaria/diagnóstico , Infección Hospitalaria/mortalidad , República Checa , Femenino , Adhesión a Directriz , Mortalidad Hospitalaria , Humanos , Tiempo de Internación/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Respiración Artificial , Resucitación , Estudios Retrospectivos , Sepsis/diagnóstico , Sepsis/mortalidad
3.
Bratisl Lek Listy ; 112(4): 218-22, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21585132

RESUMEN

During the pandemy caused by novel influenza A virus (subgroup H1N1), a significant number of patients became critically ill from respiratory failure. In the most severe cases of primary pneumonia, patients develop refractory hypoxemic acute respiratory distress syndrome (ARDS) with typical computed tomographic findings of multi-lobar alveolar opacities and extremely reduced pulmonary airspace. To reduce the risk of injurious ventilation and promote survival, some authors recommend the use of extracorporeal membrane oxygenation (ECMO). Unfortunately, ECMO is expensive, associated with serious complications, and available at very few centers. Other therapeutic options are clearly needed. Here we report three patients with severe influenza pneumonia who recovered following treatment with porcine surfactant (Tab. 1, Fig. 3, Ref. 6). Full Text in free PDF www.bmj.sk.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A , Gripe Humana/complicaciones , Surfactantes Pulmonares/uso terapéutico , Síndrome de Dificultad Respiratoria/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Síndrome de Dificultad Respiratoria/diagnóstico por imagen , Síndrome de Dificultad Respiratoria/fisiopatología , Síndrome de Dificultad Respiratoria/virología
4.
Klin Mikrobiol Infekc Lek ; 17(1): 19-23, 2011 Feb.
Artículo en Cs | MEDLINE | ID: mdl-21452119

RESUMEN

Ventilator-associated pneumonia (VAP) is defined as pneumonia occurring in a patient after intubation with an endotracheal tube or tracheostomy tube lasting for 48 hours or more. It is also one of the most common and fatal infections of patients in ICUs. The diagnostic process in VAP is still underestimated and precise criteria for diagnosis are inconsistent. Delayed diagnosis and subsequent delay in starting appropriate therapy are associated with worse outcomes in patients with VAP. Appropriate dose, adequate route of administration and reasonable length of antibiotic therapy together with de-escalation are the fundamental principles of therapy. Supportive care is also an integral part of the treatment. Implementing preventive procedures according to the local ICU standards is needed for reducing the incidence of VAP effectively.


Asunto(s)
Neumonía Asociada al Ventilador , Humanos , Neumonía Asociada al Ventilador/diagnóstico , Neumonía Asociada al Ventilador/tratamiento farmacológico , Neumonía Asociada al Ventilador/prevención & control
5.
Bratisl Lek Listy ; 111(11): 619-24, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21384750

RESUMEN

Cardiac arrest (CA) is a serious clinical condition that might be responsible in many cases for death, in other at least for development of irreversible multiple organ dysfunctions. During and after the CA a significant coagulopathy develops causing a decrease in proper tissue perfusion even if an early return of spontaneous circulation (ROSC) is achieved (no-reflow phenomenon). Administration of thrombolytics can solve the problem by destructing the blood clot in both macrocirculation and microcirculation. Results of some clinical trials proving an effectiveness of thrombolysis were published in the literature. Generally, it was done by describing its positive influence on some important clinical outcome measures (24hour survival, number of hospital admissions, better neurological status etc.) without significant increase in the number of bleeding complications. However, recent pivotal evidence based medicine (EBM) trial represented by TROICA study did not confirm the expected positive results. Because of that and also for other reasons (cost, fear of adverse effects, little practice etc.) thrombolysis, although theoretically promising therapeutical intervention, is not overly recommended and used in routine clinical practice in both out-of-hospital and in-hospital settings (Fig. 2, Tab. 4, Ref. 24). Full Text in free PDF www.bmj.sk.


Asunto(s)
Trastornos de la Coagulación Sanguínea/tratamiento farmacológico , Paro Cardíaco/sangre , Terapia Trombolítica , Trastornos de la Coagulación Sanguínea/etiología , Trastornos de la Coagulación Sanguínea/fisiopatología , Paro Cardíaco/complicaciones , Humanos
6.
Bratisl Lek Listy ; 110(8): 459-64, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19750981

RESUMEN

Excessive forms of the response of organism to infection play an important role in the pathogenesis of severe sepsis. They may consist of either local pro-inflammatory response with a massive release of cytokines into the systemic circulation, or may be presented as an excessive systemic anti-inflammatory response. In the first case, the result is a systemic pro-inflammatory state, characterised by natural stages of the inflammatory response, in which dysfunction of macrocirculation is followed by microcirculation derangement and mitochondrial alteration at the end. These mechanisms are responsible for the development of remote organs failure. The result in the second case is a deactivation of local immunocompetent cells, which results in the risk of uncontrollable growth of microorganisms, especially in organs with an impaired antimicrobial barrier. This may explain the clinically observed recurrence of septic episodes, when a resolution of infection at one site is later replaced with an outbreak of sepsis from another site. A number of therapeutic interventions aimed on the management of causes and consequences of systemic pro-inflammatory state was clinically tested (e.g. antibiotics, goal directed hemodynamic support and inhibitors of coagulation) with surprisingly different effectiveness. The cause of this difference may lie, apart from the frequently discussed inhomogeneity of the studied patient population, also in an incorrect timing of the therapeutic interventions, which does not respect natural stages of the inflammatory response (Fig. 1, Ref. 40).


Asunto(s)
Sepsis/fisiopatología , Humanos , Sepsis/terapia , Síndrome de Respuesta Inflamatoria Sistémica/fisiopatología , Síndrome de Respuesta Inflamatoria Sistémica/terapia
7.
Vnitr Lek ; 55(1): 27-36, 2009 Jan.
Artículo en Cs | MEDLINE | ID: mdl-19227953

RESUMEN

Hemostasis is an important intricately regulated homeostatic process. During the hospitalization a critically ill patient is often subjected to various external and internal stimuli which have abilities to influence the hemostasis. Administration of substitute solutions could be related to such an adverse effect. This paper tries to describe main mechanisms leading to impair the hemostatic balance during the fluid therapy and outline possibilities of their monitoring. The work also deals with every basic arteficial substitute solutions individually in term of their influence on coagulation. The goal was as well to point out certain controversial conclusions and problems emerging from the effort of synthesis of all information acquired from clinical publications related to the main topic. Generally it is possible to conclude that all substitutes have a potential to disturb coagulation. Tromboelastography belongs between the most accurate ways to measure coagulation disturbances and has several substantial advantages compared to classic examination. Character and degree of the influence depends on quantity, velocity of administration and type of used solution.


Asunto(s)
Hemostasis , Sustitutos del Plasma/uso terapéutico , Coagulación Sanguínea , Hemodilución , Humanos , Sustitutos del Plasma/efectos adversos
8.
Acta Chir Belg ; 108(3): 346-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18710113

RESUMEN

Abdominal compartment syndrome (ACS) is defined as a sustained increase of intra-abdominal pressure (IAP) above 20 mmHg followed by the development of organ dysfunction. Treatment of ACS is still a question to be discussed and surgical decompression is usually preferred. According to recent data, massive crystalloid resuscitation of shock plays a key role in the development of secondary ACS in trauma patients. As mentioned previously, a high volume of infused crystalloids and a positive fluid balance were associated with ACS development in trauma patients as well as in septic patients. Moreover, we observed that a treatment strategy based on the achievement of a negative fluid balance resulted in a dramatic decrease in IAP and an improvement in haemodynamics and ventilation. This approach has been indicated as an interesting option for non-surgical treatment, with a caution that such intervention may exacerbate gut hypoperfusion. In this report we present two patients with secondary ACS development following abdominal surgery in which the achievement of a negative fluid balance showed a similar effect. Moreover, the fluid removal procedure also seemed to be associated with an improvement in splanchnic perfusion, as measured by gastric tonometry.


Asunto(s)
Síndromes Compartimentales/terapia , Fluidoterapia/efectos adversos , Equilibrio Hidroelectrolítico , Abdomen , Adulto , Anciano , Síndromes Compartimentales/etiología , Síndromes Compartimentales/fisiopatología , Soluciones Cristaloides , Femenino , Hemofiltración/métodos , Humanos , Soluciones Isotónicas , Masculino , Monitoreo Fisiológico , Presión , Resultado del Tratamiento
9.
Neotrop Entomol ; 47(5): 598-609, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28971341

RESUMEN

We report on Asphondylia poss. swaedicola Kieffer & Jörgensen inducing apical stem galls on Suaeda divaricata Moquin-Tandon in the Monte region of Argentina. The putative inquiline gelechiid Scrobipalpula patagonica Povolný is confirmed as an associate of A. poss. swaedicola galls. The following hymenopteran parasitoids are associated with this system: Torymus nr swaedicola (Kieffer & Jörgensen), Aprostocetus sp., Horismenus sp., Bracon (Bracon) sp., Chelonus (Microchelonus) sp., Apanteles sp., Zaeucoila robusta (Ashmead), and Goniozus nigrifemur Ashmead. The Horismenus sp., Z. robusta, and G. nigrifemur are reported as associates of Suaeda for the first time. A total of 28 genera and 31 species of parasitoids known to be associated with Suaeda spp. worldwide and their associations are tabulated.


Asunto(s)
Chenopodiaceae , Dípteros/parasitología , Himenópteros , Lepidópteros/parasitología , Tumores de Planta , Animales , Argentina , Interacciones Huésped-Parásitos
10.
Vnitr Lek ; 53(9): 972-8, 2007 Sep.
Artículo en Cs | MEDLINE | ID: mdl-18019668

RESUMEN

Intraabdominal hypertension is frequently observed both in surgical and non-surgical patients hospitalised at intensive care units. This clinical syndrome of multifactorial etiology is characterised by increased intraabdominal tension with subsequent development of organ dysfunctions. It is reflected in impaired cardiovascular, pulmonary, renal, splanchnic and neurological functions which improve after the abdominal decompression. Patients with intraabdominal hypertension can be relatively easily identified by measuring tension in the bladder the primary purpose of which is early detection of clinically less severe stages and also the detection of the most sever forms of abdominal compartment syndrome. The objective of subsequent surgical or conservative treatment is to prevent organ dysfunction and subsequent multi-organ failure.


Asunto(s)
Abdomen/fisiopatología , Síndromes Compartimentales/fisiopatología , Síndromes Compartimentales/diagnóstico , Síndromes Compartimentales/terapia , Humanos , Unidades de Cuidados Intensivos
11.
Vnitr Lek ; 53(12): 1319-24, 2007 Dec.
Artículo en Sk | MEDLINE | ID: mdl-18357868

RESUMEN

There is no doubt that artificial ventilation of lungs seems to be proven as life-saving manoeuvre, whereas a growing amount of evidence is presented and published recently that artificial ventilation cause damage to patient by so far unexplained mechanism--by conversion of mechanical stress to biochemical signals inducing local and systemic inflammatory response, which is wide spreading and causing multiple organ dysfunction syndrome (MODS). Higher mortality of patients with acute lung injury on MODS rather than acute respiratory failure itself can be explained just by these findings. The article is brief summary of recent opinions of mechanism of ventilator induced lung and systemic injury. There is also evidence that the process of implementation of these finding into clinical practice is exceedingly slow.


Asunto(s)
Respiración Artificial/efectos adversos , Humanos
12.
Transplant Proc ; 49(6): 1262-1269, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28735991

RESUMEN

BACKGROUND: Hyperchloremia produces renal vasoconstriction and fall in glomerular filtration rate. In 90% of brain-dead organ donors, diabetes insipidus develops, characterized by inappropriate diuresis, hyperosmolality, and hyperchloremia. The aim of this study was to determine the relationship between the serum concentration of chlorides of the donor and the onset of the function of the kidney allograft in the recipient. METHODS: We retrospectively studied 213 donors and kidney allograft recipients. Serum creatinine concentrations and glomerular filtration rates on the 1st, 7th, and 30th days after transplantation of the recipients from hyperchloremic donors were compared with the recipients from normochloremic donors, as well as the incidences of acute tubular necrosis and delayed graft function. RESULTS: On the 1st day, serum creatinine concentrations of the recipients from hyperchloremic and normochloremic donors, respectively, were 448.2 ± 212.1 µmol/L and 502.2 ± 197.8 µmol/L (P = .1), on the 7th day, 168.6 ± 102.6 µmol/L and 196.9 ± 120.6 µmol/L (P = .13), and on the 30th day, 129.4 ± 43.3 µmol/L and 131.8 ± 43.6 µmol/L (P = .73). The differences were statistically significant. The groups also did not differ significantly in glomerular filtration rates and incidences of acute tubular necrosis and delayed graft function. CONCLUSIONS: In this study, no significant correlation between serum chloride concentrations of the organ donors and the onset of the function of kidney allografts in the recipients was found.


Asunto(s)
Acidosis/fisiopatología , Aloinjertos/fisiopatología , Muerte Encefálica/fisiopatología , Cloruros/sangre , Trasplante de Riñón , Donantes de Tejidos , Acidosis/complicaciones , Adulto , Cloruros/fisiología , Creatinina/sangre , Funcionamiento Retardado del Injerto/sangre , Funcionamiento Retardado del Injerto/epidemiología , Funcionamiento Retardado del Injerto/etiología , Femenino , Tasa de Filtración Glomerular , Humanos , Incidencia , Riñón/fisiopatología , Pruebas de Función Renal , Necrosis Tubular Aguda/sangre , Necrosis Tubular Aguda/epidemiología , Necrosis Tubular Aguda/etiología , Masculino , Complicaciones Posoperatorias/sangre , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Resultado del Tratamiento
13.
Case Rep Transplant ; 2017: 7345680, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28912999

RESUMEN

Acute renal failure can be caused by calcineurin inhibitors (CNIs), due to arteriolopathy and altered tubular function. Within this context, we present the case of a 14-month-old liver transplant recipient who suffered an acute polyuric renal failure during a short episode of hypercaloric feeding. In our case, CNI-induced distal RTA led to nephrocalcinosis and therefore to secondary nephrogenic diabetes insipidus. The diet with high renal solute load consequently resulted in an acute polyuric renal failure with severe hypernatremic dehydration. In conclusion, a hypercaloric diet in children with potentially impaired renal function due to therapy with CNIs requires precise calculation of the potential renal solute load and the associated fluid requirements.

14.
Ceska Gynekol ; 71(6): 494-9, 2006 Dec.
Artículo en Cs | MEDLINE | ID: mdl-17236411

RESUMEN

AIM: Overview of recent knowledge about risks and benefits of blood transfusion. TYPE OF STUDY: Review article. SETTING: Department of Anaesthesiology and Intensive Care, University Hospital, Ostrava. METHODS: Summary of previously published data. CONCLUSION: Transfusion of blood and blood products remains controversial in clinical practice. Neither indication and timing nor benefit of this procedure is clearly determined. Previously often reported complications as blood-group incompatibility and infection are less frequent now, and new transfusion's side effects as TRIM (transfusion-related immunomodulation) and TRALI (transfusion-related lung injury) are reported with growing evidence. This risk (often underestimated in the past) is discussed in the article, and compared with blood transfusion benefits. Either restrictive or more open approach to blood transfusion are supported as well as criticised by different groups of clinicians and "good clinical practice" definition remains open for the future.


Asunto(s)
Transfusión Sanguínea , Tolerancia Inmunológica , Enfermedades Pulmonares/etiología , Humanos , Reacción a la Transfusión
15.
Rozhl Chir ; 84(5): 223-7, 2005 May.
Artículo en Cs | MEDLINE | ID: mdl-16050034

RESUMEN

Perioperative optimalization of haemodynamics is associated with improved post-operative development, as presented in most published studies. This study has confirmed that intra-operative correction of cardiac output back to it's physiological level is associated with improved post-operative course in the group of patients undergoing major elective intraabdominal surgery. Statistically significant decreasing of post-operative complications (4.7% vs 17.7%), decreased length of stay (LOS) in the ICU by 33% and decreased LOS in the hospital by 24% was recorded. Interpretation of the study could be limited by using non-indexed cardiac output values and higher female presentation in the group of patients (although statistically not significant).


Asunto(s)
Abdomen/cirugía , Gasto Cardíaco Bajo/terapia , Complicaciones Intraoperatorias/terapia , Femenino , Hemodinámica , Humanos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Monitoreo Intraoperatorio , Cuidados Posoperatorios , Complicaciones Posoperatorias/prevención & control
16.
Am J Psychiatry ; 150(7): 1102-4, 1993 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-8317584

RESUMEN

Twenty patients with myasthenia gravis and 15 patients with polymyositis/dermatomyositis were assessed with a structured interview. Fifteen patients (43%) were diagnosed with an anxiety disorder. Significantly more myasthenic patients (40%) than polymyositis/dermatomyositis patients (7%) were diagnosed with panic disorder/agoraphobia. These findings suggest that the symptoms of myasthenia gravis may predispose vulnerable individuals to panic disorder/agoraphobia.


Asunto(s)
Trastornos de Ansiedad/diagnóstico , Dermatomiositis/epidemiología , Miastenia Gravis/epidemiología , Polimiositis/epidemiología , Adolescente , Adulto , Anciano , Agorafobia/diagnóstico , Agorafobia/epidemiología , Trastornos de Ansiedad/epidemiología , Comorbilidad , Dermatomiositis/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miastenia Gravis/psicología , Trastorno de Pánico/diagnóstico , Trastorno de Pánico/epidemiología , Polimiositis/psicología , Prevalencia , Factores de Riesgo
17.
Neurology ; 41(1): 135-40, 1991 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-1824643

RESUMEN

We studied muscles from 3 patients with centronuclear myopathy (CNM) by immunocytochemistry using myosin heavy chain (MHC)-specific monoclonal antibodies to determine whether subtypes of CNM express prenatal MHC and to assess if there is an arrest in development of these muscles. Muscle from a woman with childhood-onset CNM did not express prenatal MHC, yet this prenatal MHC was strongly expressed in the muscle fibers of 2 brothers with X-linked CNM. This finding represents the 1st immunocytochemical evidence of the expression of a prenatal myosin isoform in nonregenerating postnatal human muscle and suggests that the X-linked form of CNM differs from the other types because of a true arrest in maturation of the muscle.


Asunto(s)
Enfermedades Musculares/patología , Miosinas/química , Adulto , Anticuerpos Monoclonales , Biopsia , Femenino , Genes Recesivos , Ligamiento Genético , Histocitoquímica , Humanos , Inmunohistoquímica , Lactante , Recién Nacido , Masculino , Músculos/patología , Enfermedades Musculares/clasificación , Enfermedades Musculares/enzimología , Enfermedades Musculares/genética , Cromosoma X
18.
Neurology ; 58(8): 1266-72, 2002 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-11971097

RESUMEN

BACKGROUND: Mutations in the human skeletal muscle sodium channels are associated with hyperKPP, hypoKPP, paramyotonia congenita, and potassium-aggravated myotonia. This article describes the clinical manifestations of a patient with hyperKPP carrying a mutation (L689I) occurring in the linker DIIS4-S5 and its functional expression in a mammalian system. OBJECTIVE: To correlate the clinical manifestations of hyperkalemic periodic paralysis (hyperKPP) with the functional expression of a sodium channel mutation. METHODS: The mutation was introduced into a mammalian expression vector and expressed in the human embryonic kidney 293 cells. The functional expression of the L689I and that of the wild-type channels was monitored using the whole cell voltage-clamp technique. RESULTS: There was no change in the kinetics of fast inactivation, and inactivation curves were indistinguishable from that of wild-type channels. However, the L689I mutation caused a hyperpolarizing shift in the voltage dependence of activation and the mutant channels showed an impaired slow inactivation process. In addition, the mutant channels have a larger persistent current at -40 mV where window current may occur. CONCLUSIONS: The L689I mutation has similar effects to the T704M mutation and causes hyperKPP in this family. Because both of these hyperKPP mutations cause episodic muscle weakness, and because patients harboring another mutation (I693T) also can have episodic weakness, it is hypothesized that mutations occurring in this region of the sodium channel may cause episodic weakness through an impaired slow inactivation process coupled with enhanced activation.


Asunto(s)
Músculo Esquelético/fisiopatología , Distrofias Musculares/genética , Distrofias Musculares/fisiopatología , Parálisis/genética , Parálisis/fisiopatología , Canales de Sodio/genética , Canales de Sodio/fisiología , Adulto , Sustitución de Aminoácidos , Línea Celular , ADN/genética , Electrofisiología , Femenino , Humanos , Hiperpotasemia/fisiopatología , Masculino , Potenciales de la Membrana/fisiología , Mutagénesis , Mutación/genética , Técnicas de Placa-Clamp , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transfección
19.
J Neurol Sci ; 63(1): 75-84, 1984 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-6321669

RESUMEN

A well documented case of I-cell disease is presented. Light- and electron-microscopic studies of muscle revealed marked accumulation of characteristic I-cell inclusions in satellite cells and only scattered autophagic vacuoles in muscle fibers. Correlation with previous tissue culture studies indicated an amelioration of structural abnormalities with differentiation from satellite cell to mature muscle fiber. Histochemically, the muscle demonstrated paucity of type I fibers without evidence of denervation thus suggesting a developmental disturbance in motor unit organization. Selective type I fiber dysfunction and reduced satellite cell regenerative capacity may be related factors in the neuromuscular disability of patients with I-cell disease.


Asunto(s)
Mucolipidosis/patología , Músculos/patología , Preescolar , Femenino , Fibroblastos/ultraestructura , Histocitoquímica , Humanos , Cuerpos de Inclusión/ultraestructura , Microscopía Electrónica , Mucolipidosis/metabolismo , Músculos/metabolismo , Músculos/ultraestructura
20.
Neurosurgery ; 44(5): 1005-17, 1999 May.
Artículo en Inglés | MEDLINE | ID: mdl-10232534

RESUMEN

OBJECTIVE: Chiari malformations are regarded as a pathological continuum of hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. The Chiari I malformation (CMI) is defined as tonsillar herniation of at least 3 to 5 mm below the foramen magnum. Increased detection of CMI has emphasized the need for more information regarding the clinical features of the disorder. METHODS: We examined a prospective cohort of 364 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine, and some were evaluated using CINE-magnetic resonance imaging and other neurodiagnostic tests. For 50 patients and 50 age- and gender-matched control subjects, the volume of the posterior cranial fossa was calculated by the Cavalieri method. The families of 21 patients participated in a study of familial aggregation. RESULTS: There were 275 female and 89 male patients. The age of onset was 24.9+/-15.8 years (mean +/- standard deviation), and 89 patients (24%) cited trauma as the precipitating event. Common associated problems included syringomyelia (65%), scoliosis (42%), and basilar invagination (12%). Forty-three patients (12%) reported positive family histories of CMI or syringomyelia. Pedigrees for 21 families showed patterns consistent with autosomal dominant or recessive inheritance. The clinical syndrome of CMI was found to consist of the following: 1) headaches, 2) pseudotumor-like episodes, 3) a Meniere's disease-like syndrome, 4) lower cranial nerve signs, and 5) spinal cord disturbances in the absence of syringomyelia. The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (364 patients), tonsillar herniation of at least 5 mm (332 patients), and varying degrees of cranial base dysplasia. Volumetric calculations for the posterior cranial fossa revealed a significant reduction of total volume (mean, 13.4 ml) and a 40% reduction of cerebrospinal fluid volume (mean, 10.8 ml), with normal brain volume. CONCLUSION: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterized by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible for headaches, pseudotumor-like episodes, endolymphatic hydrops, syringomyelia, and hydrocephalus) and direct compression of nervous tissue. The demonstration of familial aggregation suggests a genetic component of transmission.


Asunto(s)
Malformación de Arnold-Chiari/complicaciones , Malformación de Arnold-Chiari/diagnóstico , Adolescente , Adulto , Malformación de Arnold-Chiari/genética , Estudios de Cohortes , Fosa Craneal Posterior/patología , Oftalmopatías/etiología , Femenino , Cefalea/etiología , Humanos , Imagen por Resonancia Magnética , Imagen por Resonancia Cinemagnética , Masculino , Persona de Mediana Edad , Enfermedades del Sistema Nervioso/etiología , Linaje , Estudios Prospectivos , Siringomielia/complicaciones , Enfermedades Vestibulares/etiología
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