ABSTRACT
Malignant hyperthermia (MH) is a pharmacogenetic disease triggered by volatile anesthetics and succinylcholine. Deaths due to MH have been reported in Brazil. The first Malignant Hyperthermia Diagnostic and Research Center in Latin America was inaugurated in 1993 at the Federal University of Rio de Janeiro, Brazil. The center followed the diagnostic protocols of the North America MH Group, in which the contractures of biopsies from the vastus lateralis muscle are analyzed after exposure to caffeine and halothane (CHCT). CHCT was performed in individuals who survived, their relatives and those with signs/symptoms somewhat related to MH susceptibility (MHS). Here, we report data from 194 patients collected over 16 years. The Southeast (N = 110) and South (N = 71) represented the majority of patients. Median age was 25 (4-70) years, with similar numbers of males (104) and females (90). MHS was found in 90 patients and 104 patients were normal. Abnormal responses to both caffeine and halothane were observed in 59 patients and to caffeine or halothane in 20 and 11 patients, respectively. The contracture of biopsies from MHS exposed to caffeine and halothane was 1.027 ± 0.075 g (N = 285) and 4.021 ± 0.255 g (N = 226), respectively. MHS was found in patients with either low or high blood creatine kinase and also, with a low score on the clinical grading scale. Thus, these parameters cannot be used with certainty to predict MHS. We conclude that the CHCT protocol described by the North America MH Group contributed to identification of MHS in suspected individuals at an MH center in Brazil with 100 percent sensitivity and 65.7 percent specificity.
Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Anesthetics, Inhalation , Caffeine , Contracture/chemically induced , Halothane , Malignant Hyperthermia/diagnosis , Biopsy , Contracture/physiopathology , Malignant Hyperthermia/physiopathology , Sensitivity and Specificity , Severity of Illness Index , Young AdultABSTRACT
Inverse Duane's retraction syndrome is very uncommon. Congenital cases are even more unusual. A 6-year-old girl with convergent squint along with severe restriction on abduction is described. On attempted abduction, a narrowing of the palpebral fissure, upshoot and retraction of the eyeball were observed. Brain and orbit MRI demonstrated no intracranial or intraorbital mass, fracture, or entrapment of the medial rectus. Forced duction test was strongly positive. The primary lesion was found to be a tight medial rectus with shortening and soft tissue contracture. Surgical tenotomy of the medial rectus led to successful postoperative motility, but some limitation at full adduction and abduction persisted. This is a case reported with congenital medial rectus shortening, suggesting that this condition may be one of the etiologies of the rare inverse Duane's retraction syndrome.
Subject(s)
Child , Female , Humans , Contracture/physiopathology , Contracture/etiology , Duane Retraction Syndrome/surgery , Duane Retraction Syndrome/physiopathology , Duane Retraction Syndrome/congenital , Duane Retraction Syndrome/complications , Eye Movements , Oculomotor Muscles/surgery , Oculomotor Muscles/physiopathologyABSTRACT
El síndrome de movilidad articular limitada se presenta en 30 y 25 por ciento de los enfermos con diabetes mellitus tipo I y II, respectivamente; este síndrome no se diagnostica en forma adecuada y oportuna por el clínico. En su causa se han identificado alteraciones en el metabolismo de la colágena y se ha relacionado con las complicaciones micro y macrovasculares de la diabetes mellitus. La aparición temprana del síndrome de movilidad articular limitada en el paciente diabético es un factor predictivo de alto riesgo para el desarrollo de complicaciones tardías. En el caso que se reporta se describe el cuadro clínico, así como datos radiológicos e histopatológicos que integran este síndrome
Subject(s)
Humans , Female , Adult , Metacarpophalangeal Joint/physiopathology , Contracture/physiopathology , Diabetes Mellitus/complications , MovementABSTRACT
The pattern of muscle paralysis and paresis in the lower limbs has been studied in 1356 children with 1800 poliomyelitic limbs, revealed that more than two-third (68 = 55%) muscles were affected, with the ratio of paresis and paralysed muscles were 1.89:1.00. The muscles most frequently affected were tibialis anterior (1516), quadriceps (1465) and tibialis posterior (1435) while tibialis anterior (1070), tibialis posterior (820) and quadriceps (766) were most commonly paralysed in descending order. The tibialis anterior which leads in paralysis group, has come last in order of frequency of paresis. The highest segmental incidence of affection of muscles found in second to fourth lumbar segments while muscle paralysis is found in fourth lumbar spinal segment. The commonest deformities encountered in residual poliomyelitis are flexion-abduction contracture hip, flexion contracture knee and valgus deformity foot.