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PubMed1985

Brachial plexus injuries with causalgia resulting from transaxillary rib resection.

In each of four patients with suspected thoracic outlet syndromes, the transaxillary approach to resection of the first thoracic and cervical ribs resulted in severe and permanent damage to the brachial plexus. The most severe sequela was causalgia. Weakness of the hand muscles, sensory deficits, and autonomic dysfunction also occurred. Abuse of narcotic analgesics was common. Two patients suffered severe psychological depressions, with one committing suicide. Current enthusiasm with transaxillary rib resections in cases of thoracic outlet syndrome should be tempered by the possibility of severe and permanent injury to the brachial plexus and intractable causalgia.

Adult↗

PubMed1990

Neuroleptic malignant syndrome in a multiple trauma patient.

Neuroleptic malignant syndrome is a little-known adverse reaction to neuroleptic administration characterized by hyperpyrexia, leukocytosis, creatine kinase elevations, muscular rigidity, autonomic dysfunction, and alterations in level of consciousness. Neuroleptic malignant syndrome has an associated 20% mortality but can be reversed when treated with neuroleptic discontinuation and administration of bromocriptine and dantrolene. Early diagnosis in the trauma unit may prevent an extensive workup for presumed sepsis. To our knowledge, neuroleptic malignant syndrome has not previously been reported in a multiple trauma patients.

Adult↗

PubMed1998

Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.

A 7-month-old infant, son of consanguinous Indian parents, presented with recurrent chewing of his digits in a median nerve distribution as the primary manifestation of carpal tunnel syndrome, in conjunction with features consistent with congenital insensitivity to pain. Electromyography (EMG) demonstrated severe median nerve entrapment at the wrist bilaterally, but other nerves were normal. In spite of clinical evidence of diffuse pain insensitivity, sural nerve and skin biopsies were normal, and he had no evidence of autonomic dysfunction. Hand findings evolved with scarring and infection of median innervated digits and loss of fine motor skills. Carpal tunnel release resulted in complete clinical resolution and significant EMG improvement. Milder symptoms and EMG evidence of median nerve entrapment were demonstrated in both parents, paternal grandparents, and several of his father's siblings. We hypothesize this child may be homozygous for a mutant allele that in its heterozygous state predisposes to familial autosomal dominant carpal tunnel syndrome. Homozygosity for this or another mutant allele may be responsible for his congenital insensitivity to pain.

Action Potentials↗

PubMed2004

A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).

Four affected siblings in a Costa Rican family presented an aggressive polyneuropathy with widespread involvement of many visceral organs and onset during the third decade of life with rapid loss of muscle mass in the lower limbs and severe dysautonomy. The medical histories include vitreous opacity, cardiac enlargement, dermal and gastrointestinal infiltration, and autonomic dysfunction including circulatory compromise and gastrointestinal disturbances. Histological studies using Congo red stain and immunohistochemical assays with antibodies against the transthyretin (TTR) protein showed widespread deposition of amyloid in extracellular areas, including dermis and gastrointestinal lamina propia, endo- and perineural spaces, and vascular walls. A mutation search in the transthyretin (ttr) gene was performed seeking the cause of this severe form of familial amyloidotic polyneuropathy (FAP). We applied single-stranded conformational polymorphism (SSCP)-analyses followed by sequencing of the four exons of the ttr gene, revealing a point mutation in exon 3, a G to A transition that causes a Glu54Lys codon change. Western blots of plasma proteins incubated with anti-transthyretin antibodies after gel electrophoresis provided separation of wild-type and mutant TTR protein in affected family members.

Adult↗

PubMed2006

PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk of NB. To date, mutations predisposing to neural crest tumors have been reported in 20 individuals from 16 families. These families included additional clinical features such as Hirschsprung (HSCR) disease or congenital central hypoventilation syndrome, either in the index case or relatives. The contribution of PHOX2B mutations to NB cases without additional features is unclear. To address this we sequenced PHOX2B in constitutional DNA from 86 individuals with non-syndromic NB (4 cases had a family history of NB). We identified two mutations, 600delC, a frameshift mutation in an individual with isolated, unifocal NB and G197D, a missense mutation that was present in a family with multiple individuals with NB but no evidence of autonomic dysfunction. These data demonstrate that PHOX2B mutations are a rare cause of non-syndromic NB. The mutations we identified are outside the domains typically mutated in PHOX2B syndromes. This provides further evidence that the underlying PHOX2B mutational mechanism influences tumor risk and suggests that the position of missense mutations may influence the resulting phenotype.

Amino Acid Sequence↗

PubMed2003

Limitations of current Parkinson's disease therapy.

Levodopa and other dopaminergic medications drastically improve the motor symptoms and quality of life of patients with Parkinson's disease in the early stages of the disease. However, once the "honeymoon" period has waned, usually after a few years of dopaminergic therapy, patients become progressively more disabled despite an ever more complex combination of available antiparkinsonian treatments. Sooner or later, they suffer from "dopa-resistant" motor symptoms (speech impairment, abnormal posture, gait and balance problems), "dopa-resistant" nonmotor signs (autonomic dysfunction, mood and cognitive impairment, sleep problems, pain) and/or drug-related side effects (especially psychosis, motor fluctuations, and dyskinesias). Therefore, the current antiparkinsonian therapy cannot be considered as ideal with regard to both efficacy and safety.

Antiparkinson Agents↗

PubMed1978

Pharmacological studies of the pupils in familial amyloid polyneuropathy.

Pharmacological studies of the pupils of 7 patients with familial amyloid polyneuropathy (FAP) were performed in order to demonstrate the site of the lesion. Supersensitivity to 1.25% epinephrine was observed frequently, but not to 2.5% methacholine. The lesions of the sympathetic nervous system, judging from the epinephrine and tyramine tests, were regarded as preganglionic in 2 patients and postganglionic in 4. Among 3 patients reexamined six months later, 1 had developed signs of sympathetic postganglionic disturbance and another showed a peripheral parasympathetic disturbance associated with progress of a sympathetic preganglionic disturbance. From these results it was suggested that in FAP, sympathetic abnormalities involve the pupils more often than parasympathetic disturbances, and pharmacological studies can detect the autonomic dysfunction before it becomes clinically apparent.

Adult↗

PubMed1979

Cerebral infarcts with arterial occlusion in neonates.

Among 592 infants examined at autopsy during a four-year period, 32 (5.4%) had cerebral infarcts. Excluded were cases of traumatic hemorrhages and softening, periventricular leukomalacia, venous lesions, and any mass, including encephaloceles, with arterial distortion and infarction. Histological abnormalities were similar to those of infarcts in adults. Relatively advanced histopathological changes in some infants living only a few hours indicated that some infarctions may have occured in utero. The most common cause of arterial occlusion was embolization, with sepsis and disseminated intravascular coagulation playing a major role. The brains of term neonates were more frequently involved than those of premature infants. Multiple small infarcts occurred more often in premature infants. In most cases autonomic dysfunction with prolonged apnea, episodic seizures, and metabolic acidosis were the major associated clinical features, rather than focal neurological deficits. Similar cerebral infarcts in infants who survive with less severe systemic complications may lead to porencephaly, hemiplegia, mental and motor retardation, and recurrent seizures.

Brain↗

PubMed1987

Biochemical and genetic characterization of type I familial amyloidotic polyneuropathy.

Type I familial amyloidotic polyneuropathy is an autosomal dominant, inherited systemic amyloidosis characterized initially by dissociated sensory disturbance and autonomic dysfunction. The amyloid fibril protein seen in patients of Portuguese, Japanese, and Swedish descent in the U.S. mainly consists of a variant form of transthyretin (also called prealbumin) with the substitution of methionine for valine at position 30. Methods have been developed to detect this variant transthyretin in the serum, and to detect a base change in a mutated transthyretin gene. The biochemical and genetic abnormalities in transthyretin are completely linked to the clinical diagnosis of type I familial amyloidotic polyneuropathy. These diagnostic methods may allow early diagnosis and genetic counseling to avoid transmission of this intractable disorder to the next generation.

Amyloidosis↗

PubMed1987

Diencephalic seizures: responsiveness to bromocriptine and morphine.

Two patients with posttraumatic diencephalic seizures, characterized by autonomic dysfunction and extensor posturing, had partial responses to bromocriptine and complete responses to morphine. Probable synergism between the two agents was noted. These 2 cases suggest the potential effectiveness of this regimen for the treatment of diencephalic seizures, raise questions regarding the role of the dopaminergic and opioid systems in this disease entity, and support the hypothesis that diencephalic seizures represent a release phenomenon in the brain.

Adult↗

PubMed1996

Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin.

We investigated a 6-month-old infant with daily episodes of left hemifacial contraction, head and eye deviation to the right, nystagmoid jerks to the right, autonomic dysfunction, and retained consciousness. The episodes began on day 1 of life and were unresponsive to antiepileptic medication. Interictal and ictal scalp electroencephalographic (EEG) recordings were unremarkable. Magnetic resonance imaging revealed a mass in the left cerebellar hemisphere and peduncle. Ictal single-photon emission computed tomography revealed focal hyperperfusion in the region of the cerebellar mass. Ictal EEG recordings with implanted cerebellar electrodes demonstrated focal seizure discharges in the region of the mass. Resection of the mass resulted in remission of seizures and histopathology revealed ganglioglioma. Six previously reported infants with similar semiology (described as "hemifacial spasm"), imaging findings, and histopathology are reviewed. We believe the previously reported infants and our patient constitute a rare but important clinicopathological syndrome of infancy characterized by epileptic seizures of cerebellar origin.

Age of Onset↗

PubMed1997

Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome.

To clarify the mechanism of brain and spinal cord impairment in Rett syndrome (RS), we measured the cerebrospinal fluid (CSF) levels of substance P in 20 patients with RS including 16 childhood patients and 4 adult patients. Findings were compared with those obtained in age-matched controls and diseased controls. The CSF level of substance P was significantly lower in patients with RS compared with controls. The alteration in the CSF level of substance P may be related to the neurological impairment, especially autonomic dysfunction, and neuropathological involvement of dorsal root ganglia and peripheral nerve observed in RS.

Adult↗

PubMed2003

Antiidiotypic antibodies neutralize autoantibodies that inhibit cholinergic neurotransmission.

OBJECTIVE: Functional autoantibodies that inhibit M(3) muscarinic receptor (M3R)-mediated neurotransmission have been reported in patients with Sjögren's syndrome (SS) and in patients with scleroderma. Because of limited reports that intravenous immunoglobulin (IVIG) improves dysautonomia in primary SS, we investigated whether IVIG neutralizes the effect of anti-M3R antibodies on colon smooth muscle contractions, in an in vitro functional assay. METHODS: IgG obtained from patients with primary SS, patients with rheumatoid arthritis and secondary SS, and patients with scleroderma was tested, before and after coincubation with equimolar amounts of IVIG or its F(ab')(2) and Fc fractions, for the ability to inhibit carbachol-evoked colon smooth muscle contractions. In addition, patient IgG was passed through an IVIG F(ab')(2) column, and unretained IgG was tested for functional activity on colon smooth muscle strips. Purified IgG obtained from healthy adults was also examined for a neutralizing effect on anti-M3R antibody activity. RESULTS: Inhibition of colon contractions was mediated by the Fab fraction of patient IgG. Coincubation of IgG from the 3 patient groups with IVIG or its F(ab')(2) fragment neutralized anti-M3R antibody-mediated inhibition of cholinergic smooth muscle contractions. Preabsorption of patient IgG with Sepharose-bound IVIG F(ab')(2) removed the anti-M3R inhibitory activity. In addition, purified IgG from each of 4 healthy adults neutralized the functional autoantibodies. CONCLUSION: Anti-M3R antibody activity does not require receptor crosslinking. Antiidiotypic antibodies present in pooled IgG neutralize patient IgG-mediated inhibition of M3R cholinergic neurotransmission, providing a rationale for IVIG as a treatment of autonomic dysfunction in patients with SS and patients with scleroderma. Furthermore, antiidiotypic antibodies in healthy individuals may prevent the emergence of pathogenic anti-M3R autoantibodies.

Acetylcholine↗

PubMed1979

Chronotropic incompetence in exercise testing.

Patients with chronotropic incompetence, defined as a failure of the heart rate response to exercise to rise to within two standard deviations of the expected increase with exercise, where studied and compared to patients with known coronary disease by angiogram with and without ST segment depression. 72% of the patients with chronotropic incompetence but without ST depression had significant coronary heart disease. The demonstration of chronotropic incompetence in exercise testing has important predictive implications and should be looked upon as carefully as ST segment changes. There was no evidence of SA node ischemia in these patients. Intrinsic heart rate measurements done in this study suggest autonomic dysfunction as a possible pathophysiologic mechanism for chronotropic incompetence. The heart rate response to exercise may be a useful predictor of the presence and severity of coronary disease. Therefore, a predicted heart rate response with standard deviation for age and sex should be included as part of the stress test protocol.

Adult↗

PubMed1984

Exercise testing in the latent phase of Chagas' disease.

Exercise stress testing was performed in 50 completely asymptomatic patients in the latent phase of Chagas' disease. In 32 (64%) abnormalities were found consisting of either abnormal ST depression, exercise-induced arrhythmias, or chronotropic incompetence. The latter was determined by comparing the heart rate response to 50 age- and sex-matched control patients without serologic evidence of Chagas' disease. In the absence of an adequate control population we can only speculate as to the significance of the ST depression and arrhythmias during exercise. However, chronotropic incompetence may be a specific marker for Trypanosomal infestation in an endemic area. It probably is an early manifestation of autonomic dysfunction secondary to Chagas' disease.

Adult↗

PubMed1998

Diabetic cardiomyopathy.

Prior to 1972, the increased cardiovascular morbidity and mortality that diabetics endure had been attributed to vascular disease. In 1972, Rubler et al. proposed the existence of a diabetic cardiomyopathy based on their expereince with four adult diabetic patients who suffered from congestive heart failure (CHF) in the absence of discernable coronary artery disease, valvular or congenital heart disease, hypertension, or alcoholism. Alternative explanations for CHF, such as anemia and vascular and renal disease in these four patients, gave rise to criticisms, but a wave of subsequent studies in the 1970s and 1980s provided credence to this new disease entity. This review of the studies done since 1972 appears to support the concept of a diabetic cardiomyopathy independent of atherosclerotic cardiovascular disease. The exact mechanism is still questionable, and several mechanisms have been proposed including small and microvascular disease, autonomic dysfunction, metabolic derangements, and interstitial fibrosis. However, the weight of evidence leans toward the development of fibrosis, possibly caused by the accumulation of a peroxidase acid schiff (PAS)-positive glycoprotein, leading to myocardial hypertrophy and diastolic dysfunction.

Cardiomyopathy, Dilated↗

PubMed2005

Heart rate response to graded exercise correlates with aerobic and ventilatory capacity in patients with heart failure.

BACKGROUND: Autonomic dysfunction and reduced exercise tolerance are typical features of patients with congestive heart failure (CHF). Baro-chemoreflex balance and organ response may have a common role in conditioning exercise tolerance, ventilation, and chronotropic competence in patients with CHF. HYPOTHESIS: We tested the hypothesis that there is a relationship between functional capacity and chronotropic competence to exercise in CHF. METHODS: In all, 48 stable outpatients with CHF (age 65 +/- 10 years, 41 men, NYHA class 2.1 +/- 0, ejection fraction 31 +/- 7%, peak VO2 16 +/- 4 ml/kg/min) performed cardiopulmonary exercise testing (CPX). Heart rate (HR) response to exercise was assessed by the chronotropic index (CRI). The CRI was calculated by the following formula: CRI = peak HR - rest HR/220 - age - rest HR x 100 (normal value > 80%). The relationship of CRI to peak oxygen consumption (VO2) and ventilation/carbon dioxide production (VE/VCO2) ratio was examined. A group of 33 healthy controls underwent CPX as well. RESULTS: The CRI correlated directly with peak VO2 (r = 0.638, p < 0.001) and inversely with VE/VCO2 (r = -0.492, p < 0.001) in patients with CHF. A CRI < 78% identified patients with CHF and a peak VO2 < 20 ml/kg/min, area under the receiver operating curve (AUROC): 0.76, 95% confidence interval (CI) 0.60-0.92. A CRI < 74% predicted exercise hyperventilation in CHF (AUROC: 0.71 for VE/VCO2 > 30, 95% CI 0.53-0.88). The CRI was not significantly related either to peak VO2 or to VE/VCO2 in the control group. CONCLUSIONS: In patients with mild to moderate CHF, CRI correlates with functional capacity. This relationship adds new data on pathophysiologic grounds and supports the routine incorporation of CRI into CPX interpretation.

Aged↗

PubMed2005

Assessment of continuous positive airway pressure treatment in obstructive sleep apnea syndrome using 24-hour urinary catecholamines.

BACKGROUND: Obstructive sleep apnea syndrome (OSAS) is related to diurnal sympathetic hyperactivity and increased blood pressure, both factors that are likely to lead to the development of cardiovascular disease. HYPOTHESIS: The study investigated whether 24-h urinary catecholamines would reflect the effect of obstructive sleep apnea on autonomic activity. METHODS: Standard polysomnography was performed in 17 patients with OSAS (age 53.7 +/- 13.5 years, mean +/- standard deviation). The number of apnea/hypopnea episodes per hour of sleep (apnea/hypopnea index [AHI]); number of oxygen desaturation episodes per hour (desaturation index [DSI]); arousals per hour (arousal index); lowest oxygen saturation (lowest SpO2); and percentages of stages 1, 2, 3/4, and rapid eye movement sleep (% stage 1, -2, and -3/4, and % REM, respectively) were measured. Overnight continuous positive airway pressure (CPAP) titration was performed the night after the baseline sleep measurements had been taken. Twenty-four-hour urinary adrenaline and noradrenaline were also examined. RESULTS: During the CPAP treatment, both 24-h urinary adrenaline and noradrenaline were significantly lower compared with natural sleep. Continuous positive airway pressure significantly decreased the AHI, DSI, % stage 1, and arousal index and significantly increased the lowest SpO2. There were no significant differences in % stage 2, % stage 3/4, and % REM between before and during CPAP treatment. Multiple analysis of covariance tests revealed that lowest SpO2 was the most important factor for increasing 24-h urinary noradrenaline levels (F = 4.75, p = 0.048). CONCLUSIONS: One night CPAP treatment could improve autonomic dysfunction. The assessment of 24-h urinary noradrenaline would provide important information for evaluating the effect of CPAP treatment.

Adult↗