RESUMO
Identifying both Human immunodeficiency virus (HIV)-related and co-morbid symptoms experienced by people living with HIV (PLWH) who are receiving antiretroviral therapy (ART) treatment is a major challenge for healthcare providers globally. Yet, little research to date has examined the symptoms of illness experienced by PLWH including patients living in Central and South American. To address this gap, this study was designed to identify symptoms of HIV by socio-demographic and/or clinical characteristics among Chilean patients living with the virus. A convenience sample of 209 Chilean PLWH was recruited from an outpatient clinic in Santiago, Chile. A structured interview was used to elicit socio-demographic information and HIV symptoms status. Additional clinical information was obtained through a review of the participants' medical records. Results show that patients' most commonly reported HIV-related symptoms were fear/worries (66%), anxiety (52%), gas/bloating (50%), and thirst (50%). Multivariate analysis revealed a positive association between the number of reported HIV-related symptoms and number of years living with HIV. Having completed college was negatively associated with number of symptoms. Latent class analysis indicated that PLWH in the sample who had completed college were two times more likely to experience a mild intensity of HIV-related symptoms than their lesser educated counterparts. Similarly, logistic regression revealed that college-educated PLWH were twice as likely to be classified in the subgroup reporting mild intensity of symptoms than those who lacked a college degree. Overall, the study's results reveal that many Chilean PLWH, even those with high CD4 counts and low or undetectable viral loads, are not symptom free. The findings point to the need for clinicians to tailor a plan of care for individuals living with HIV that is based on their symptomatology.
Assuntos
Ansiedade/epidemiologia , Infecções por HIV/epidemiologia , Adolescente , Adulto , Idoso , Ansiedade/etiologia , Contagem de Linfócito CD4 , Chile/epidemiologia , Análise por Conglomerados , Comorbidade , Estudos Transversais , Feminino , Infecções por HIV/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Sede , Fatores de Tempo , Carga ViralRESUMO
We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old. At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.
Assuntos
Distrofia Muscular de Emery-Dreifuss/patologia , Adulto , Biópsia , Evolução Fatal , Humanos , Masculino , Músculo Esquelético/patologiaRESUMO
We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.
Assuntos
Catarata/diagnóstico , Deficiência Intelectual/diagnóstico , Laminina/metabolismo , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico , Adolescente , Biópsia , Criança , Deficiências do Desenvolvimento/diagnóstico , Distrofina/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/metabolismo , Distrofias Musculares/patologia , Sarcolema/metabolismoRESUMO
PURPOSE: To evaluate the cardiopulmonary exercise testing (CPX) for the diagnosis of myopathies. METHODS: 27 patients with myopathy were submitted to CPX testing (symptom limited bike protocol). RESULTS: Dystrophic patients and patients with mitochondrial disease, compared with controls, showed significant differences for the power of work perfomed (watt) and the maximum oxygen consumption (VO2 max). Patients with mitochondrial disease presented significantly lower values of anaerobic threshold when compared to controls and elevation of exercise peak respiratory exchange ratio (RER) values when compared to the others groups. CONCLUSIONS: CPX testing may be useful in evaluating degree of physical limitation of patients with myopathy at inicial stage as well on follow-up examinations. Power of work performed, VO2 max, anaerobic threshold and RER at exercise peak may suggest the diagnosis of myopathy and its sub-types and therefore exclude psychologic causes of limitation.
Assuntos
Erros Inatos do Metabolismo/diagnóstico , Doenças Musculares/diagnóstico , Adolescente , Adulto , Idoso , Teste de Esforço , Feminino , Doença de Depósito de Glicogênio/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Miopatias Mitocondriais/diagnóstico , Distrofias Musculares/diagnósticoRESUMO
Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis. The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27 years) and onset of symptoms between 1 and 10 years (average 5 years). These patients presented a myotonic phenomenon unleashed by intensive contraction and global muscular hypertrophy. Three patients were diagnosed as cases of Becker type generalized myotonia because they presented a recessive autosomic heredity and/or transient episodes of muscular weakness. Two patients fitted the description of Thomsen congenital myotonia, with a pattern of dominating autosomic heredity and/or absence of weakness episodes or worsening factors for their condition. Two patients presented fluctuating myotonia, which because worse in cold weather or at potassium intake. The clinical diagnosis was confirmed through complementary tests (electroneuromyography, muscle biopsy and DNA study). Each of the patients made use of different drugs, in the search of optimal lessening of their myotonia. There were five reports of amelioration with the use of diphenilhydantoine; one report with the use of carbamazepine; three reports with the use of acetazolamide; one report with the use of a calcium channel blocker; one report with the use of a beta-adrenergic; one report with the use of thiazide; and none with the use of quinidine/procainamide.
Assuntos
Miotonia Congênita/diagnóstico , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miotonia Congênita/tratamento farmacológicoRESUMO
The authors report the case of a female patient, 18 years of age, with slowly progressing weakness in upper and lower limbs since childhood. There were no significant antecedents. The neurologic examination showed mild proximal and distal motor deficit with a slight muscular retraction at the level of shoulders, elbows, coxofemural joints, knees and ankles; muscular hypotrophy in the legs and feet; reflexes were present and sensitivity was normal. Creatinephosphokinase showed an increase of one and a half times the normal value. Electroneuromyography: decrease in the amplitude and duration of action potentials and excessive recruitment of motor units, compatible with a primary muscular disease. A muscle biopsy with frozen sections (HE, Gomori, PAS, ATPases, NADH, SDH, acid and alcaline phosphatases, cytochrome oxidase and Oil-red-o) revealed a primary muscular disease characterized by the presence of nemalinic and intracytoplasmic spheroid bodies. Nemalinic bodies have been described with different structural abnormalities of muscle fibers; however, such association is rare. This is the second case report of concomitant occurrence of nemalinic and spheroid bodies.
Assuntos
Miopatias da Nemalina/patologia , Adolescente , Citoplasma/patologia , Feminino , HumanosRESUMO
We report clinical and pathological findings in 9 children affected by congenital muscular dystrophy with normal or borderline intelligence and hypodensity of cerebral white matter (CMD-HWM), also frequently called 'occidental or western form of cerebro-muscular dystrophy' (OCMD). Our patients have uniform, distinct, clinical presentation that includes: normal or subnormal intelligence, severe, slowly progressive motor disability, high rate of facial involvement and dysmorphic aspect, increased creatine kinase levels and variable degrees of abnormal, radiographic, cerebral white matter pattern. By comparing our cases with previous reports we suggest that this subtype of CMD is not uncommon in Brazil and it is represented by a particularly severe and homogeneous clinical picture with important motor disability. The immunohistochemical staining for merosin, performed on the muscle biopsy of 6 among 9 patients, showed that all are merosin negative.
Assuntos
Córtex Cerebral/patologia , Laminina/deficiência , Distrofias Musculares/patologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Imageamento por Ressonância Magnética , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/epidemiologia , Tomografia Computadorizada por Raios XRESUMO
We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed.
Assuntos
Miotonia Congênita/diagnóstico , Adolescente , Eletromiografia , Feminino , Humanos , Miotonia Congênita/terapiaRESUMO
We report the case of a child with myotonic dystrophy (DM) with symptoms beginning at the age of seven, whose genetic study showed an additional DNA fragment, greater than of his father, an asymptomatic carrier. The clinical and molecular analysis of this parent-child pair are probably the first described in Brazil, since the recent discovery of genetic abnormality in DM by American and European researchers, that explained the long-debated phenomenon of "anticipation" in this disease. The main advances in molecular genetics in DM and its correlation with increasing severity and earlier onset of the symptoms in successive generations of a family are commented briefly.
Assuntos
Distrofia Miotônica/genética , Criança , DNA/análise , Humanos , Cariotipagem , MasculinoRESUMO
The second most common mutation associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) in Japan is the 3271 mutation. This mutation was found in a Brazilian family of Portuguese and Italian descent, indicating that this mutation also exists in a race other than Japanese. The propositus had mild clinical manifestations atypical of MELAS, suggesting that patients with the 3271 mutation exhibit heterogeneous phenotypic expression as seen in the 3243 mutation.
Assuntos
Acidose Láctica/genética , Transtornos Cerebrovasculares/genética , DNA Mitocondrial/genética , Miopatias Mitocondriais/genética , Mutação , Adulto , Brasil , Humanos , Masculino , Linhagem , População BrancaRESUMO
The authors report the case of a 58-year-old male patient with clinical and electromyographic features of myasthenia. Muscle biopsy with histochemistry and electronic microscopy made it possible to diagnose a myopathy associated with tubular aggregates. Attention is called to the fact that the anatomical pathologic alterations which were found may be present in a heterogenous group of patients showing a great variety of symptoms. Thus, there is no reason to consider the existence of a myopathy associated with tubular aggregates, since the anatomical and pathologic findings are inespecific and do not characterize any specific disease.
Assuntos
Músculos/ultraestrutura , Miastenia Gravis/patologia , Biópsia , Humanos , Masculino , Microscopia Eletrônica , Pessoa de Meia-IdadeRESUMO
A series of 110 muscle and 40 skin biopsy specimens were examined using direct immunofluorescence aiming to identify features that may differentiate the myopathy of connective tissue disease from other muscle diseases. The skeletal muscle fluorescence was positive in 75% of the patients with muscle diseases. The sarcolemmal staining was higher in mitochondrial encephalomyopathy. Fiber and vascular staining occurred in all muscle diseases, except in cases of myasthenia. Our results showed that 42% of patients with polymyositis and 43% of patients with peripheral motor neuron diseases have vascular deposits of immune complexes suggesting that these two diseases could result from an immune-complex-induced vasculopathy. The IF test in skin specimens was positive in 60% of the patients with muscular diseases. The absence of immunoglobulin deposit at the dermoepidermal junction and at epidermal nuclei in cases of peripheral motor neuron disease suggest that this skin test may be useful in the differentiation of muscle diseases.
Assuntos
Músculos/patologia , Doenças Musculares/patologia , Pele/patologia , Biópsia , Doenças do Tecido Conjuntivo/patologia , Diagnóstico Diferencial , Imunofluorescência , Humanos , Microscopia de FluorescênciaRESUMO
The authors report the case of a female 5-months-old child who presented from the age of two months delayed neuromotor development, marked hypotonia, general muscle weakness and bilateral palpebral ptosis. The muscle biopsy revealed many fibers with central nuclei and the diagnosis was centronuclear (myotubular) myopathy. The difficult histological characterization of this congenital myopathy and the great variability of clinical findings with light, moderate or severe involvement are analysed and discussed.
Assuntos
Doenças Musculares/congênito , Biópsia , Feminino , Histocitoquímica , Humanos , Lactente , Microscopia Eletrônica , Músculos/metabolismo , Músculos/ultraestrutura , Doenças Musculares/metabolismo , Doenças Musculares/patologiaRESUMO
To diagnose infection with the human immunodeficiency virus (HIV) soon after birth in infants born to HIV type 1-infected women, we developed antiviral IgA Western blot and dot blot assays with recombinant HIV-1 proteins. Thirty-three infants born to HIV-1-seropositive mothers and nine infants born to HIV-1-seronegative intravenous drug-abusing mothers were followed prospectively. Infection was documented by positive virus culture. Results with the polymerase chain reaction were used for comparison. Twelve infants were found infected with HIV-1; the earliest age at which cultures became positive ranged from birth to 31 weeks of age. Of the 12 culture-positive infants, 10 had anti-HIV IgA antibodies detectable initially between birth (cord blood) and 27 weeks of age. Anti-HIV IgA was not present in the uninfected infants or in the control subjects, either by Western blot or dot blot assays. Testing for anti-HIV IgA antibodies with recombinant HIV-1 proteins is an effective method for detecting viral infection in newborn and young infants.
Assuntos
Síndrome da Imunodeficiência Adquirida/diagnóstico , Anticorpos Anti-HIV/análise , HIV-1 , Imunoglobulina G/análise , Western Blotting , Seguimentos , Produtos do Gene env/análise , Produtos do Gene gag/análise , Antígenos HIV/análise , Proteína do Núcleo p24 do HIV , Proteína gp160 do Envelope de HIV , HIV-1/imunologia , HIV-1/isolamento & purificação , Humanos , Immunoblotting , Lactente , Recém-Nascido , Reação em Cadeia da Polimerase , Precursores de Proteínas/análise , DNA Polimerase Dirigida por RNA/análise , Proteínas Recombinantes , Sensibilidade e Especificidade , Fatores de Tempo , Proteínas do Core Viral/análiseRESUMO
In order to investigate if the same apparent decrease in dystrophin negative fibers with aging observed in mouse mdx female heterozygotes also occurs in carriers of the DMD and BMD gene, we have studied the muscle of 29 DMD carriers (19 adults and 10 young daughters of obligate carriers, including 3 manifesting carriers) and 5 adult asymptomatic heterozygotes for Becker dystrophy (BMD). All young DMD possible carriers and 11 of 24 adult DMB/BMD heterozygotes had increased serum enzymes activities. A population of dystrophin negative fibers, more evident with the use of the C-terminal antibody, was seen in the three manifesting and in a 9-yr-old possible DMD carrier. In the remaining females, a positive immunohistochemical pattern of dystrophin, which did not differ from normal controls, was observed. Our results suggest that: (1) the increased population of dystrophin negative fibers reported in young mdx female heterozygotes was not seen in young DMD carriers, aged 6-17 yr; and (2) abnormalities in dystrophin immunostaining are not easily observed and are more frequent in manifesting carriers, when the muscle is grossly altered.
Assuntos
Distrofina/sangue , Heterozigoto , Distrofias Musculares/genética , Adolescente , Adulto , Idoso , Envelhecimento/metabolismo , Criança , Pré-Escolar , Creatina Quinase/sangue , Distrofina/imunologia , Feminino , Imunofluorescência , Humanos , Masculino , Pessoa de Meia-Idade , Músculos/patologia , Distrofias Musculares/sangue , Distrofias Musculares/imunologiaRESUMO
The case of an 11-year-old boy with external ophthalmoparesia, tetraparesia and bilateral eyelid ptosis is reported. He was 7-years-old when first symptoms appeared. Anticholinesterasic drugs were used. He was submitted to muscle biopsy. The results of histochemistry analysis showed storage of granulous material at the subsarcolemmal region of muscle fibers by SDH. Increase in the number of mitochondria with electron dense bodies was found at electron microscopy. Anticholinesterasic drugs administration was interrupted and consequently he got worse, and bouts of dyspnea occurred. Due to this worsening anticholinesterasic agents were reintroduced together with prednisone, and he improved. Due to clinical and histological expressions we think it is possible that morphological mitochondrial alterations may occur also in myasthenia gravis.
Assuntos
Mitocôndrias Musculares/ultraestrutura , Músculos/patologia , Miastenia Gravis/fisiopatologia , Criança , Eletrofisiologia , Humanos , Masculino , Miastenia Gravis/patologiaRESUMO
Foram examinados dois irmäos portadores de uma síndrome miclónica progressiva comn discretos sintomas cerebelares. O exame neurológico mostrava sinais cerebelares moderados e papilas pálidas; mioclonais assíncronas, arrítmicas e assimétricas, um déficit artrestésico e ausência de fraqueza muscular. A atividade de base do EEG era moderadamente lenta e sem atividade irritativa. A TC era normal em ambos os casos. A estimulaçäo fótica intemitente aumentava a freqüência dos abalos mioclônicos que se tornavam bilaterais e sincronos, progredindo para uma crise tônico-clônica generalizada. Potenciais evocados e RMN em um caso foram normais . Drogas anticonvulsivantes foram ineficazes no controle das mioclonias. O diagníostico de encefalomiopatia mitocondrial foi realizado através do achado em espécimes musculares de membranas basais espessadas, com degeneraçäo miofibrilar e um número elevado de mitocondrias distribuídos perifericamente e com uma matriz densa, granular e com alguns vacúolos. Os achados clínicos e eletrográficos sugerem uma origem subcortical para esta síndrome mioclônica
Assuntos
Adulto , Pessoa de Meia-Idade , Humanos , Masculino , Encefalopatias/fisiopatologia , Mitocôndrias Musculares/ultraestrutura , Mioclonia/diagnóstico , Doenças Neuromusculares/patologia , Eletroencefalografia , Potenciais Evocados , Mioclonia/etiologiaRESUMO
É relatado o caso de um paciente de 11 anos de idade com oftalmoparesia extrínseca, ptose palpebral bilateral e tetraparesia desde os 7 anos de idade. A concentraçäo de anticorpos contra receptor de acetilcolina por radioimunoensaio foi 0,6 nM/1; a pesquisa de anticorpos contra músculo estriado foi negativa. Exame eletromiográfico revelou decremento de 26,1%. Foi tratado com brometo de piridostigmina na dose de 60 mg/d. Submetidos a biópsia de tecido muscular estriado (biceps braquial esquerdo) com avaliaçöes por métodos histoquímicos e microscopia eletrônica, que revelaram: acúmulos de mitocôndrias na regiäo subsarcolemal na coloraçäo pela SDH; aumento da concentraçäo de mitocôndrias e corpúsculos eletrodensos a microscopia eletrônica; esses achados säo sugestivos de miopatia mitocondrial. Em conseqüência da interrupçäo das drogas anticolinesterásicas ocorreu piora das manifestaçöes deficitárias, disfagia e dispnéia. Reintroduzidos os anticolinesterásicos, associados a imunossupressäo com corticosteróides, houve melhora e retomada pelo paciente de suas atividades habituais. Destarte, é discutido o caráter inespecífico das alteraçöes morfogenéticas e disfunçöes de mitocôndrias em outras patologias neuromusuclares, incluindo a miastenia grave, como neste casos em particular
Assuntos
Humanos , Criança , Masculino , Mitocôndrias Musculares/ultraestrutura , Músculos/patologia , Miastenia Gravis/fisiopatologia , EletrofisiologiaRESUMO
To determine the usefulness of DNA amplification by polymerase chain reaction for the early identification of human immunodeficiency virus type 1 (HIV-1) infection in infants and children, we compared the polymerase chain reaction and concurrent viral cultures of peripheral blood mononuclear cells from 25 high-risk subjects aged 5 weeks to 8 years. In two separate primer pairs, HIV-1 proviral DNA gag sequences were successfully identified in cell lysates from seven patients, including two infants with previously indeterminate HIV-1 status on the basis of serologic and culture results. In the remaining 18 patients the polymerase chain reaction was negative for HIV-1. Simultaneously grown HIV-1 cultures concurred with polymerase chain reaction results for all patients. In an 18-month-old infant who had had a single HIV-1 positive culture at 1 month of age with four subsequent negative cultures, both polymerase chain reaction and HIV-1 culture were negative. Our data demonstrate the clinical applicability of polymerase chain reaction on crude cell lysates for the rapid, early, definitive detection of HIV-1 infection in high-risk infants and children.