RESUMO
INTRODUCTION: Isaacs's syndrome (IS), is a rare neurological disorder, characterized by sustained muscular activity, fasciculations, cramps, myokymia, excessive sweating, and occasional elevation of creatine phosphokinase (CPK) enzyme. AIM: To report our experience in patients with IS and urinary manifestations, describing clinical findings, test's results, and response to treatment. Methods An observational, retrospective analysis of patients with IS and urinary manifestations treated at German Hospital of Buenos Aires between 2001 and 2011 was done. Diagnosis was performed with clinical examination and electromyography (EMG) of external sphincter of the anus and/or urethra. Demographic, clinical, and treatment variables were analyzed. International Prognostic Scoring System (IPSS) at diagnosis and follow up was made. RESULTS: Eleven IS patients were recruited, of whom 8 (72.72%) were females with a mean age 47.87 years (DS ± 13.95) and presented associated lower tract urinary symptoms (LUTS). Six of them (75%) had voiding and 2 (25%) filling symptoms. Urodynamic and electromyographic findings reproduced symptomatology in all patients. Patients with voiding symptomatology were treated with combination of alpha-blockers with benzodiazepines; membrane stabilizings agents; antiepileptics; neurotropic; corticoids; posterior tibial nerve stimulation and botulinum toxin, achieving improvement in 4/6. The two patients with storage symptoms were treated in first instance with anticholinergic drugs, one of which did not respond completely was added oral pentosansulfate and electrical stimulation, reversing the symptomatology. Four patients had associated pathologies: Hashimoto's thyroiditis; Sjögren's syndrome; dysautonomia, and myasthenia gravis. CONCLUSIONS: In our experience, IS urinary manifestations are common and usually has a good evolution with adequate treatment for each patient.
Assuntos
Síndrome de Isaacs/urina , Doenças Urológicas/etiologia , Doenças Urológicas/urina , Adolescente , Adulto , Canal Anal/fisiopatologia , Eletromiografia , Feminino , Humanos , Síndrome de Isaacs/diagnóstico , Síndrome de Isaacs/tratamento farmacológico , Sintomas do Trato Urinário Inferior/complicações , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Uretra/fisiopatologia , Urodinâmica , Doenças Urológicas/diagnóstico , Doenças Urológicas/tratamento farmacológico , Adulto JovemRESUMO
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). CONCLUSIONS: Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential.
Assuntos
Canalopatias/complicações , Transtornos Miotônicos/diagnóstico , Canais de Sódio/genética , Absenteísmo , Adolescente , Obstrução das Vias Respiratórias , Canalopatias/diagnóstico , Criança , Pré-Escolar , Contratura/etiologia , Diplopia/etiologia , Feminino , Transtornos Neurológicos da Marcha , Humanos , Lactente , Recém-Nascido , Masculino , Cãibra Muscular/etiologia , Hipotonia Muscular/etiologia , Transtornos Miotônicos/genética , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Sons Respiratórios/etiologia , Estudos Retrospectivos , Escoliose/etiologia , Estrabismo/etiologiaRESUMO
A dismenorréia é caracterizada por uma severa dor uterina durante o período menstrual. É um quadro que, apesar de ser muito freqüente, não tem um diagnóstico preciso dificultando conhecer sua real prevalência entre as mulheres. Pode ser primária ou secundária (decorrentes de causas orgânicas) e pode coexistir com perda sangüínea volumosa. Poderá preceder o período menstrual em vários dias ou simplesmente acompanhar este momento. O seu diagnóstico diferencial se baseia na anamnese e no exame físico, podendo haver necessidade de métodos auxiliares, como ultra-sonografia transvaginal, histeroscopia e laparoscopia. Além da dor pélvica cíclica, outros sintomas podem associar-se com a dismenorréia primária, resultand, freqüentemente em alterações psicológicas. Este quadro álgico associa-se à ação de prostaglandinas decorrentes da queda prévia dos níveis de progesterona na fase pré-menstruação. Os antiinflamatórios não hormonais, seguidos pelos contraceptivos orais, são a forma mais comum de tratamento, embora existam alternativas.
Assuntos
Humanos , Feminino , Dismenorreia , Dor Pélvica , Prostaglandinas , Cólica , MenstruaçãoRESUMO
Se evalúa la evidencia acerca de los posibles tratamientos para los calambres en embarazadas de más de 20 semanas de edad gestacional. La mejor evidencia de eficacia disponible se relaciona a la suplementación de magnesio, ya sea en forma de lactato o citrato, a una dosis de 5 mmoles a la mañana y 10 mmoles a la tarde. La evidencia sobre la suplementación de calcio, cloruro de sodio y multivitamínicos es débil por lo que no son recomendables. Los expertos recomiendan ejercicios y masajes en las piernas, aunque carecemos de evidencia para demostrar su eficacia.
Available evidence about treatment efficacy of pregnancy related leg cramps is revised. Best evidence of efficacy is relatedto supplementation of 5 mmols of magnesium morning time and 10 mmols evening time. Calcium, sodium chloride andmultivitamin preparations are related to weaker evidence of efficacy and can not be recommended. Experts recommendexercises and leg massage, but evidence related to its efficacy is lacking.* MÈdica Especialista en Medicina Familiar. Servicio de Medicina Familiar y Preventiva del Hospital Italiano de Buenos Aires.
Assuntos
Humanos , Feminino , Gravidez , Cãibra Muscular/terapia , Gravidez , Magnésio/uso terapêuticoRESUMO
PIP: The results of 486 laparoscopic procedures are reported. 70.3% of the procedures were for the purpose of sterilization and 27.9% were performed for fertility studies and diagnostic purposes. There were 3 pregnancies following 342 sterilization procedures. Laparoscopic diagnosis uncovered various contributing causes to abdominal pain: pelvic variocele, ovarian cysts of difficult palpation, uterine myomas, and adherent tissues with endometriosis. There was 1 case of puncture of the inferior vena cava and 2 cases of abscess of the abdominal wall. Preoperative and operative procedures are briefly described.^ieng