RESUMO
Background: Leiomyosarcoma (LMS) is a rare malignancy that originates from smooth muscle. The most common sites of metastases include the lungs, liver, kidney, and skin. Notably, metastases of LMS to the central nervous system/or spine are extremely rare. When a cervical spinal LMS lesion was encountered, the patient successfully underwent gross total tumor resection with negative margins. Case Description: A 63-year-old female had undergone an anterior cervical C5-C7 diskectomy and fusion 18 years ago and resection of a retroperitoneal LMS 3 years ago. She newly presented with right-sided numbness and pain of 2 months duration that correlated with a focal right-sided C5-level hemiparesis (i.e., 4/5 motor strength). When the cervical magnetic resonance demonstrated a right-sided C5 intralaminar mass with extension into the C5-C6 foramen, she underwent posterior tumor resection; pathologically, this proved to be an LMS metastasis. Respectively, 1- and six months postoperatively, follow-up magnetic resonance imaging scans showed no tumor recurrence; she tolerated adjuvant oncological treatment accompanied by physical therapy. However, in one postoperative year, the lesion recurred, and she is presently under consideration for additional surgical management. Conclusion: Gross total surgical resection is the first line of treatment for patients with metastatic LMS. Here, a patient with a C5 laminar/C5-C6 foraminal bony LMS metastasis underwent posterior tumor resection accompanied by adjuvant oncological treatment but exhibited disease recurrence within one postoperative year.
RESUMO
This study compared the self-assessed health-related quality of life (HRQoL) and degree of depression between patients with chronic neuropathic nonodontogenic orofacial pain (NOFP) and healthy controls using the Short Form Survey (SF-36) health status questionnaire and Beck Depression Inventory II (BDI-II). This controlled cross-sectional study included 100 patients and 119 healthy controls. The diagnostic protocol recorded the following: 1) pain intensity using a visual analog scale for the time of examination and during the one-month prior; 2) evidence for neuropathic pain using the Leeds questionnaire for neuropathic signs and symptoms (LANSS); 3) emotional status using the BDI-II; and 4) HRQoL using the SF-36 questionnaire. The mean LANSS score was 17.18 in the patient group and 0.0 in the control group. The mean BDI-II score was 18.31 in the patient group and 5.87 in the control group. The SF-36 scores were shown with Mann-Whitney U testing to have statistically significant differences between the patient and healthy control groups in all categories. Vitality was the only SF-36 category in which the patient group scored higher than the control group. In conclusion, NOFP significantly reduces the self-reported HRQoL. NOFP is also related to the development of depression, but does not affect its severity. There is a significant correlation between depression and low quality of life in patients with NOFP.
Assuntos
Dor Crônica , Neuralgia , Humanos , Qualidade de Vida/psicologia , Estudos Transversais , Neuralgia/diagnóstico , Neuralgia/terapia , Nível de Saúde , Inquéritos e Questionários , Dor Facial/diagnóstico , Dor Facial/etiologia , Dor Facial/terapia , Dor Crônica/diagnóstico , Dor Crônica/terapiaRESUMO
Migraine and tension type headache are the most common disabling primary headache disorders. Epidemiological studies have documented their high prevalence and high socioeconomic and personal impacts. According to recent data, migraine ranks as the third most prevalent disorder and seventh-highest specific cause of disability worldwide. Tension-type headache has lifetime prevalence in the general population ranging between 30% and 78% in different studies. According to the International Classification of Headache Disorders, 3rd edition, there also are many other headaches but their incidence in general population is lower than the previously mentioned headaches. Trigeminal nerve and upper cervical segments (C1-C3) are included in pain control of the head region and often evaluated in headache studies in order to improve differential diagnosis and headache treatment. In our study, we evaluated the potential role of electromyographic (EMG) blink reflex in establishing diagnosis of headache and evaluation of trigeminal nerve dysfunction as the possible underlying pathomorphological headache mechanism. Our study included 60 patients with different types of primary headaches and 30 control subjects. Statistical analysis was performed by use of χ2-test and statistical significance was set at p<0.001. Study results showed that patients with trigeminal dysfunction in EMG blink reflex had a 5.6-fold higher risk of developing headache in comparison to subjects with normal EMG blink reflex finding.
Assuntos
Piscadela/fisiologia , Transtornos de Enxaqueca/epidemiologia , Cefaleia do Tipo Tensional/epidemiologia , Doenças do Nervo Trigêmeo/epidemiologia , Adulto , Estudos de Casos e Controles , Vértebras Cervicais , Diagnóstico Diferencial , Eletromiografia , Feminino , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Transtornos da Cefaleia/epidemiologia , Transtornos da Cefaleia/fisiopatologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/fisiopatologia , Prevalência , Nervos Espinhais/fisiopatologia , Cefaleia do Tipo Tensional/fisiopatologia , Nervo Trigêmeo/fisiopatologia , Doenças do Nervo Trigêmeo/diagnóstico , Doenças do Nervo Trigêmeo/fisiopatologiaRESUMO
Patient safety culture (PCS) has a crucial impact on the safety practices of healthcare delivery systems. The purpose of this study was to assess the state of PSC in Croatian hospitals and compare it with hospitals in the United States. The study was conducted in three public general hospitals in Croatia using the Croatian translation of the Hospital Survey of Patient Safety Culture (HSOPSC). A comparison of the results from Croatian and American hospitals was performed using a T-square test. We found statistically significant differences in all 12 PSC dimensions. Croatian responses were more positive in the two dimensions of Handoff s and Transitions and Overall Perceptions of Patient Safety. In the remaining ten dimensions, Croatian responses were less positive than in US hospitals, with the most prominent areas being Nonpunitive Response to Error, Frequency of Events Reported, Communication Openness, Teamwork within Units, Feedback & Communication about Error, Management Support for Patient Safety, and Staffing. Our findings show that PSC is significantly lower in Croatian than in American hospitals, particularly in the areas of Nonpunitive Response to Error, Leadership, Teamwork, Communication Openness and Staffing. This suggests that a more comprehensive system for the improvement of patient safety within the framework of the Croatian healthcare system needs to be developed. Our findings also help confirm that HSOPSC is a useful and appropriate tool for the assessment of PSC. HSOPSC highlights the PSC components in need of improvement and should be considered for use in national and international benchmarking.
Assuntos
Hospitais/normas , Cultura Organizacional , Segurança do Paciente/normas , Gestão da Segurança/normas , Atitude do Pessoal de Saúde , Croácia , Humanos , Inovação Organizacional , Inquéritos e QuestionáriosRESUMO
Headaches are one of the most common ailments in modern society, leading to severe diminishing of general activities and they result in significant impact on the patient's quality of life. Blink reflex is an objective neurophysiological method for determining the status of the trigeminal system, facial nerve and the lateral part of medulla oblongata. The aim of this study was to examine the connection between trigeminal nerve dysfunction and various types of headaches using functional electrophysiological assessment of blink reflex tests in patients and controls. The sample comprised 60 subjects with headache attacks, 44 females, and 16 males). The control group consisted of 30 healthy subjects (19 females, and 11 males) who did not suffer from headaches. The age of subjects ranged from 20 years to 76 years with the mean of 42.81 years. Trigeminal nerve function was assessed by using blink reflex tests in patients suffering from headaches and in controls, applying the standard procedure described by Kimura et al. Pathological findings of blink reflex were observed in 58.3 % of patients suffering from headaches and in only 20 % of cases in the control group. The application of Yates' χ2 test showed a significant correlation between pathological blink reflex and headache occurrence (χ2 = 10.354; P = 0.001). Normal blink reflex was found in 41.7 % of patients suffering from headaches and in 80 % of control group subjects. Females with pathological blink reflex have 4 times higher risk for headaches than controls (OR = 4.107; 95% CI = 1.036 - 17.565). Males with pathological blink reflex have a considerably higher risk for headaches, and it was 13 times higher than in controls (OR = 13.500; 95% CI = 1.555 - 153.646). There is a strong correlation between pathological blink reflex and the occurrence of headaches in both genders, indicating significant association of trigeminal nerve dysfunction with the occurrence of headaches. The use of blink reflex testing could be of help to detect patients with an increased risk for headaches.
Assuntos
Piscadela/fisiologia , Cefaleia/diagnóstico , Nervo Trigêmeo/fisiopatologia , Adulto , Idoso , Feminino , Cefaleia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
This article offers a general examination of the sources responsible for understanding Roman military medicine, starting with literal and epigraphical sources all the way to archaeological remains consisting of hospitals, the infrastructure of military garrisons and small medical tools. Given that not one of the literary sources does not directly mention the medical personnel within the various military units, epigraphical discoveries widely represent the main source of our knowledge on the subject. On the other hand, the archaeological exploration of military garrisons offers proof of the medical care of Roman soldiers. If at first it appears that Roman military medicine is perfectly obvious and clear, actually this is not the case as many questions remain to be answered and debated. In all this, Croatia has its own archaeological perspective, where notably, one site stands out, which could hold a key role according to the layout of buildings within the garrison including its hospital.
Assuntos
Medicina Militar/história , Arqueologia , Croácia , História Antiga , Hospitais/história , Humanos , Militares/históriaRESUMO
This study aimed to answer the question whether it is possible to predict the quality of life in individuals with gastrointestinal cancer based on the number of life events, perceived stress levels and coping strategies. The study included 60 individuals (44 male and 16 female) aged 48 to 87 years, with malignant gastrointestinal tract diseases (56 with colon or rectal cancer, 2 with stomach cancer and 2 with pancreatic cancer). The following instruments were used: Questionnaire on General Information and Lifestyle Habits (developed for the purpose of this study); Scale for Measuring Quality of Life; Coping Inventory for Stressful Situations; and Life Events Scale. Results showed that the number of life events, perceived stress levels, emotion-oriented coping and avoidance were not predictive for the quality of life. Education was the only predictor for factors contributing to the quality of life (predictive variables on the Scale for Measuring Quality of Life). Task-oriented coping and education were predictors for satisfaction with past life and task-oriented coping was predictive for criterion variables on the Scale for Measuring Quality of Life and for factor related to future expectations and comparison to other people, but the proportion of explained variance was modest. The results of this study suggest that it is important to consider other variables (e.g., personality traits and sociodemographic factors) in predicting the quality of life and psychotherapeutic work with gastrointestinal cancer patients. It is important to bear in mind that there is no universally good individual coping strategy that is acceptable in all situations, but that coping flexibility or the ability to adequately change coping strategies in response to situational demands is by far more important.
Assuntos
Adaptação Psicológica , Neoplasias Gastrointestinais/psicologia , Qualidade de Vida , Estresse Psicológico/etiologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
The piezoelectric properties of some natural crystals and polymers can also be used in surgery. For this purpose, a prototype of an endoscopic instrument was constructed with piezoelectric material attached to its working end with the aim of recognizing pulsating blood vessels during laparoscopic surgery. To test the properties of the new instrument in laboratory conditions, simulated blood circulation was used with the possibility of changing pressure and frequency. The instrument was tested in the pressure range of 40-180 mm Hg at constant frequency of 72/min and frequency range of 36-130 beats per minute at constant pressure of 120 mm Hg. Test results showed that the instrument with certainty recognized a pulsating "blood vessel" in the expected pressure ranges and at different blood pump frequencies. Given the piezoelectric material's very small dimensions and flexible form, it can be installed at the working end of most standard laparoscopic instruments and thus significantly increase certainty in the recognition of arteries during surgery, which would reduce the possibility of their injury or accidental ligation.
Assuntos
Perda Sanguínea Cirúrgica/prevenção & controle , Laparoscopia/instrumentação , Laparoscopia/métodos , Modelos Cardiovasculares , Segurança do Paciente , Piezocirurgia/instrumentação , Artérias/fisiopatologia , Artérias/cirurgia , Desenho de Equipamento , Segurança de Equipamentos , Humanos , Laparoscopia/efeitos adversos , Piezocirurgia/efeitos adversos , Pulso ArterialRESUMO
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the α-galactosidase A (α-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
Assuntos
Doença de Fabry/diagnóstico , Doença de Fabry/terapia , Guias de Prática Clínica como Assunto , Adolescente , Criança , Pré-Escolar , Croácia , Feminino , Humanos , Masculino , Nefrologia/normas , Garantia da Qualidade dos Cuidados de Saúde/normas , Índice de Gravidade de DoençaRESUMO
Peripheral facial weakness is a facial nerve damage that results in muscle weakness on one side of the face. It may be idiopathic (Bell's palsy) or may have a detectable cause. Almost 80% of peripheral facial weakness cases are primary and the rest of them are secondary. The most frequent causes of secondary peripheral facial weakness are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immune disorders, drugs, degenerative diseases of the central nervous system, etc. The diagnosis relies upon the presence of typical signs and symptoms, blood chemistry tests, cerebrospinal fluid investigations, nerve conduction studies and neuroimaging methods (cerebral MRI, x-ray of the skull and mastoid). Treatment of secondary peripheral facial weakness is based on therapy for the underlying disorder, unlike the treatment of Bell's palsy that is controversial due to the lack of large, randomized, controlled, prospective studies. There are some indications that steroids or antiviral agents are beneficial but there are also studies that show no beneficial effect. Additional treatments include eye protection, physiotherapy, acupuncture, botulinum toxin, or surgery. Bell's palsy has a benign prognosis with complete recovery in about 80% of patients, 15% experience some mode of permanent nerve damage and severe consequences remain in 5% of patients.
Assuntos
Paralisia de Bell , Paralisia de Bell/diagnóstico , Paralisia de Bell/terapia , HumanosRESUMO
Multiple sclerosis is a chronic, immune-mediated disease of the central nervous system that typically strikes young adults. It is often associated with a wide range of functional deficits and progressive disability. Common symptoms of multiple sclerosis include vision problems, spasticity, weakness, ataxia, bladder and bowel dysfunctions, fatigue, pain syndromes, tremors, vertigo, cognitive impairment, and mood disorders. Multiple sclerosis has a major negative impact on patient health-related quality of life (HRQoL). Quality of life (QoL) is a multidimensional construct composed of functional, physical, emotional, social and spiritual well-being. Researches have reported that individuals with multiple sclerosis have lower QoL than non-diseased and diseased populations. The inclusion of HRQoL questionnaires in the patient follow-up is a relevant issue to optimize treatment, facilitate treatment decisions and improve adherence, as well as to reduce the inconveniences derived from medication such as side effects.
Assuntos
Esclerose Múltipla/complicações , Qualidade de Vida , Ataxia/etiologia , Dor Crônica/etiologia , Transtornos Cognitivos/etiologia , Depressão/etiologia , Avaliação da Deficiência , Progressão da Doença , Fadiga/etiologia , Humanos , Síndrome do Intestino Irritável/etiologia , Transtornos do Humor/etiologia , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/psicologia , Espasticidade Muscular/etiologia , Debilidade Muscular/etiologia , Inquéritos e Questionários , Tremor/etiologia , Bexiga Urinaria Neurogênica/etiologia , Vertigem/etiologia , Transtornos da Visão/etiologiaRESUMO
The ubiquitous distribution of vitamin D receptors in the human body is responsible for the pleiotropic effects of vitamin D-receptor activation. We discuss the possible beneficial effects of a selective activator of vitamin D receptor, paricalcitol, on the cardiovascular system in chronic heart failure patients and chronic kidney patients, in light of new trials. Paricalcitol should provide additional clinical benefits over the standard treatment for chronic kidney and heart failure, especially in cases of cardiorenal syndrome.
Assuntos
Envelhecimento/fisiologia , Conservadores da Densidade Óssea/uso terapêutico , Ergocalciferóis/uso terapêutico , Insuficiência Cardíaca/tratamento farmacológico , Receptores de Calcitriol/agonistas , Insuficiência Renal Crônica/tratamento farmacológico , Animais , Conservadores da Densidade Óssea/farmacologia , Síndrome Cardiorrenal/tratamento farmacológico , Síndrome Cardiorrenal/fisiopatologia , Sistema Cardiovascular/efeitos dos fármacos , Doença Crônica , Ergocalciferóis/farmacologia , Insuficiência Cardíaca/fisiopatologia , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Insuficiência Renal Crônica/fisiopatologiaRESUMO
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the alpha-galactosidase A (alpha-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
Assuntos
Doença de Fabry/diagnóstico , Doença de Fabry/terapia , Feminino , Humanos , MasculinoRESUMO
The National Center for Complementary and Alternative Medicine defines complementary and alternative medicine as a group of diverse medical and health care systems, practices and products that are not generally considered part of conventional medicine. Multiple sclerosis (MS) is a chronic disabling disease of the central nervous system that affects people during early adulthood. In spite of many approved medications, the treatment options in MS are limited. Many people with MS explore complementary and alternative medicine (CAM) treatments to help control their MS and treat their symptoms. Surveys suggest that up to 70% of people with MS have tried one or more CAM treatment for their MS. People with MS using CAM generally report deriving some benefit from therapies. The CAM therapies most frequently used include diet, omega-3 fatty acids and antioxidants. The therapies with highest potential among CAM therapies that warrant further investigation are low-fat diet, omega-3 fatty acids, lipoic acid, and vitamin D supplementation as potential anti-inflammatory and neuroprotective agents in both relapsing and progressive forms of MS. There are very limited researches evaluating the safety and efficacy of CAM in MS. However, in recent years, the USA National Institutes of Health and the National Multiple Sclerosis Society have been actively supporting the researches in this very important area.
Assuntos
Terapias Complementares/estatística & dados numéricos , Comportamentos Relacionados com a Saúde , Esclerose Múltipla/terapia , Medicina de Precisão/métodos , Antioxidantes/uso terapêutico , Dieta com Restrição de Gorduras/estatística & dados numéricos , Ácidos Graxos Ômega-3/uso terapêutico , Humanos , Esclerose Múltipla/epidemiologia , Autocuidado/métodos , Vitamina D/uso terapêutico , Vitaminas/uso terapêuticoRESUMO
Multiple sclerosis is a chronic demyelinating disease of the central nervous system. Tumor-like manifestation of multiple sclerosis is one of the rare clinical variants and it is frequently misdiagnosed. This is a report on a 45-year-old man who presented with right-sided hemiparesis. Initial computed tomography and magnetic resonance imaging studies of the brain revealed a large hyperintense signal lesion in the left hemisphere surrounding the cerebral edema. Low grade glioma was among the likely differential diagnoses. The patient underwent surgery. Brain biopsy showed demyelination. Lumbar puncture was performed and cerebrospinal fluid was positive for intrathecal synthesis of immunoglobulins. Other findings were compatible with the unusual form of multiple sclerosis. This case report illustrates a demyelinating process mimicking tumor lesions of the brain and it is of high importance to consider the diagnosis of multiple sclerosis on differential diagnosis of a tumor-like lesion of the central nervous system.
Assuntos
Neoplasias Encefálicas/diagnóstico , Encéfalo/patologia , Esclerose Múltipla/patologia , Encéfalo/cirurgia , Edema Encefálico/complicações , Edema Encefálico/diagnóstico , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/cirurgiaRESUMO
Multiple sclerosis (MS) is a chronic demyelinating neurologic disorder that mainly affects young individuals (aged 20 to 50 years). Approximately 85% of patients experience an initial course with relapses and remissions (relapsing-remitting multiple sclerosis). Guidelines for the management of MS should be focused on three main areas: (a) the diagnosis of MS; (b) treatment of relapses; and (c) long-term preventive treatment including clinical follow up, dose adjustment, drug switch, control of therapeutic efficacy, and disease progression. Diagnosis should be established according to clinical and paraclinical criteria. Discussion on therapeutic recommendations is focused on the disease-modifying agents in acute phases and drugs for long-term treatment and symptomatic treatment. Differential diagnoses must be taken into account on making the diagnosis of MS. Therefore, diagnosis of MS should be established on clinical and radiological diagnostic criteria, cerebrospinal fluid analysis and evoked potentials.
Assuntos
Esclerose Múltipla/diagnóstico , Esclerose Múltipla/terapia , Diagnóstico Diferencial , HumanosRESUMO
PURPOSE: The purpose of this study was to evaluate the effects of epineurotomy on the post-surgical median nerve volume and clinical outcomes in carpal tunnel syndrome (CTS) patients with a prominent nerve narrowing. METHODS: This was a prospective, randomised, double-blind controlled trial. Patients (n = 50) were randomised (1:1) to open-field surgical carpal tunnel release followed by a longitudinal epineurotomy of the nerve (test), or to open-field release without epineurotomy (control). RESULTS: The nerve volume was slightly larger in the test group 90 days post-surgery (by 10.5 %, p = 0.157) but not 180 days post-surgery. No relevant electropyhsiological or clinical difference between groups and no effect of the nerve volume was observed. The subjective pain reduction was slightly more prominent in the control group at 180 days. Larger post-surgical nerve volume was associated with lower pain, but only in the control group. CONCLUSIONS: Even in selected CTS patients, longitudinal epineurotomy confers no benefit regarding the nerve volume or clinical outcomes over a simple carpal tunnel release.
Assuntos
Síndrome do Túnel Carpal/cirurgia , Nervo Mediano/cirurgia , Procedimentos Neurocirúrgicos/métodos , Síndrome do Túnel Carpal/patologia , Método Duplo-Cego , Eletromiografia/métodos , Feminino , Humanos , Masculino , Nervo Mediano/patologia , Nervo Mediano/fisiologia , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/efeitos adversos , Dor , Medição da Dor , Satisfação do Paciente , Complicações Pós-Operatórias/etiologia , Estudos ProspectivosRESUMO
Bursae around the knee reduce friction between moving structures. When involution of suprapatellar septum fails to occur ("complete septum"), then suprapatellar bursa may stay completely separated from the knee joint cavity to form a cystic cavity. In the case of the increased volume, suprapatellar bursitis can cause painful suprapatellar swelling. The aim is to point to the possibility of arthroscopic decompression of suprapatellar cyst. In the case presented, the indication for knee arthroscopy was based on clinical examination, ultrasonography and magnetic resonance studies. The preoperative diagnosis was verified intra-operatively, and intra-articular cyst decompression was performed by arthroscopy. At the final examination 8 months postoperatively, the patient still had no pain, swelling and had full range of motion. This minimally invasive operative procedure resulted in a satisfactory anatomic and functional outcome. In this case report, we present a patient with suprapatellar cyst submitted to arthroscopic cyst decompression.
Assuntos
Artroscopia , Descompressão Cirúrgica/métodos , Articulação do Joelho/cirurgia , Cisto Sinovial/cirurgia , Edema/etiologia , Edema/cirurgia , Humanos , Articulação do Joelho/patologia , Masculino , Pessoa de Meia-Idade , Cisto Sinovial/diagnósticoRESUMO
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. The incidence has been estimated to 1 per 40,000-60,000 males and 1 per 117,000 in the general population. Symptoms usually occur during childhood or adolescence, occasionally in middle age (according to the level of the enzyme activity). Life-threatening complications often develop in untreated patients. In classic Fabry disease, they include cutaneous, renal, cardiac and cerebrovascular manifestations that lead to premature death. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 levels in the blood, urine and skin biopsies, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy initiation prior to significant disease manifestations or complications may improve patient outcome.