Rapadilino syndrome

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome. © 1992 Wiley-Liss, Inc.     

Proton magnetic resonance spectroscopic imaging for discrimination of absence and complex partial seizures

We performed proton magnetic resonance spectroscopic imaging of the temporal lobes between, during, and soon after nonconvulsive seizures in 20 patients with documented temporal lobe epilepsy, 5 patients with primary generalized epilepsy, and 2 patients with secondary generalized epilepsy. Our objective was to determine whether there were metabolic changes observable by magnetic resonance spectroscopic imaging during seizures and whether these changes were specific for focal or generalized nonconvulsive seizures. We found a significant increase in lactate to creatine plus phosphocreatine (lactate/creatine) values, reflecting an imbalance in energy supply and demand or an adaptation in response to ictal neuronal discharges, during and soon after complex partial seizures, but not during or soon after absence seizures associated with generalized epilepsy. In patients with temporal lobe epilepsy, the N-acetylaspartate resonance relative to creatine plus phosphocreatine was low in one or both temporal lobes, indicating neuronal loss or damage. This was not observed in patients with primary generalized epilepsy. The regions with abnormal lactate/creatine and N-acetylaspartate/creatine values corresponded to the epileptogenic focus as defined by clinical-electroencephalographic investigation. There was no change in the N-acetylaspartate/creatine values in the temporal lobes between the interictal, ictal, or postictal states. We conclude that (1) partial seizures are associated with abnormally high lactate levels, but absence seizures are not, and (2) no short-term changes of N-acetylaspartate occur during or soon after complex partial seizures or absence seizures. These findings may be related to the lack of postictal confusion in patients with absence seizures, as well as with the more benign course of primary generalized epilepsy with nonconvulsive attacks.     

Neuquen,Argentina: Provincial Health Policies and Their Results*

ABSTRACT: A case study of the creation and implementation of a four-tier, integrated system of health care services in a sparsely populated, rural province in Argentina is described and discussed. Begun in 1970 in a diverse geographical area with a tradition of poor health status and inadequate health care resources, the provincial government set out to develop the human, physical and technological resources needed to provide a system of preventive and curative services appropriate to the health care needs of its residents. Innovative programs included training in management techniques, and epidemiological perspective of high risk, an emphasis on personnel development through a rural general medicine residency and an expanded nursing program as well as programs to attack infectious diseases, poor sanitation and dental problems were all developed in response to the distinctive features of the physical and social environment of the province. Improvements in traditional health indicators are reviewed and attributed to the program and administrative structures that were developed.     

Maternal syphilis and congenital syphilis in Latin America: big problem, simple solution]

From the data submitted to the Pan American Health Organization (PAHO) by nationwide programs against sexually transmitted diseases (STD), HIV infection, and AIDS (2002), one can estimate the overall prevalence of syphilis among pregnant women to be 3.1% and to range from 1.00% in Peru to 6.21% in Paraguay. According to these data, the incidence of congenital syphilis ranges from 1.4 per 1000 live births in El Salvador to 12.0 per 1000 live births in Honduras. Among men who engage in sex with other men, who often classify themselves as heterosexual, as well as in female sex workers, the prevalence of syphilis ranged from 5% to 15%. Factors that determine the persistence of congenital syphilis as public health problem include a lack of awareness of the seriousness of the problem among politicians, health officials, and health care providers, difficult access to prenatal care, and screening services, a low demand for the test among users, and the stigma and discrimination that surround sexually transmitted diseases (STD). This paper seeks to focus the attention of health professionals on maternal and congenital syphilis so they will undertake actions, using an interprogrammatic approach, to eliminate congenital syphilis from Latin America and the Caribbean. Eliminating congenital syphilis will only become possible if interventions targeting vulnerable groups are also implemented. PAHO's role in eliminating congenital syphilis includes determining the baseline situation in the Region as a whole and in each country, developing communication and procurement strategies, supporting nationwide programs, promoting operational research, and facilitating interprogrammatic coordination.     

Neuronal activity in the globus pallidus of multiple system atrophy patients.

The pathophysiological changes in neural activity that characterize multiple system atrophy (MSA) are largely unknown. We recorded the activity of pallidal neurons in 3 patients with clinical and radiological features of MSA who underwent unilateral microelectrode-guided pallidotomy for disabling parkinsonism. Findings in these patients were compared with 4 control patients with a clinical diagnosis of Parkinson's disease (PD). The position, firing rates, and firing patterns of single neurons in the pallidal complex were analyzed in both MSA and PD patients. The mean spontaneous firing rate of neurons in the internal segment of the globus pallidus internus (GPii) was significantly lower in MSA than in PD patients. There were no significant differences between MSA and PD patients, however, in firing rates of neurons in the external globus pallidus (GPe) or in the external segment of GPi (GPie). In addition, no significant differences in firing pattern were found between MSA and PD patients. In conclusion, this study has shown that firing rates of neurons in GPii but not in GPie and GPe are different in MSA patients compared with that in PD patients, a finding that may reflect the poor clinical results of pallidotomy reported in patients with MSA.     

Elevated concentrations of TNF-alpha are related to low serum magnesium levels in obese subjects.

The aim of this study was to determine the relationship between serum magnesium and TNF-alpha levels in obese subjects. A cross-sectional population based study that included 192 non-diabetic, non-hypertensive subjects allocated in three categories of body mass index (BMI) <25; > or =25 to <30 kg/m2; and > or =30 kg/m2. Elevation of TNF-alpha levels was defined by serum levels > or =3.5 pg/mL, and low serum magnesium by levels < or = 0.74 mmol/L. Multivariate odds ratios (OR) adjusted by age, HOMA-IR index, and glucose tolerance status are presented. Obese subjects exhibited higher serum concentration of TNF-alpha (p = 0.002) and lower serum magnesium levels (p < 0.0001) than lean and overweight subjects. Ninety-one (47.4%) subjects showed elevated levels of TNF-alpha, of them 7 (10.9%), 31 (48.4%), and 43 (67.2%) in the groups with BMI <25, > or = 25 to < 0, and > or =0 kg/m2, respectively. Multivariate OR between low serum magnesium and TNF-alpha levels in obese subjects was of 1.8, Cl95% 1.2-9.1, P = 0.001, whereas in the lean and overweight individuals of 1.1, Cl95% 0.7-8.7, P = 0.12, and 1.3, Cl95% 0.9-10.8, P = 0.09, respectively. These data shows that low serum magnesium levels and elevated TNF-alpha are related in the obese subjects. It will be necessary to conduct more studies in order to add new data on this issue.     

Sleep complaints and their relation with drug treatment in patients suffering from Parkinson's disease.

The aim of this research was to quantify sleep problems in patients suffering from Parkinson's disease by means of the new Parkinson's Disease Sleep Scale (PDSS) and to correlate such problems with the possible influence of current drug treatment. A total of 70 patients (36 men and 34 women) with a diagnosis of Parkinson's disease were enrolled. Their mean age was 69.7 +/- 8.2 years, and duration of disease was 7.4 +/- 4.8 years. All patients completed the PDSS and the Unified Parkinson's Disease Rating Scale (UPDRS Parts I-IV). Drug consumption and doses were registered. The mean score on the PDSS scale was 109.23 +/- 19.75 and on the UPDRS III scale was 25.24 +/- 11.35. The lowest scores were obtained in Item 3 (sleep fragmentation): 5.53 (2.46); and in Item 8 (nocturia): 5.75 (2.91). There was a weak correlation between the PDSS and UPDRS III (cc = -0.355, P = 0.003), PDSS and UPDRS I (cc = -0.272, P = 0.02), and PDSS and UPDRS IV (cc = -0.416, P < 0.001). Motor conditions, mental state, and drug complications influence sleep quality. Although this effect was significant, it was not of a great magnitude. Dopaminergic drugs did not increase daytime sleepiness. As a whole, sleep quality in patients who took dopaminergic agonists did not differ from that of patients who took levodopa in monotherapy.     

Cystic spinal dysraphism of the cervical and upper thoracic region

Background Cystic dysraphic lesions of the cervical and upper thoracic region are rare and only a few series have been published about the topic. These malformations can be divided into categories that include both myelocystoceles and the so-called cervical meningoceles or myelomeningoceles.Methods A retrospective study of 18 patients was conducted.Results In 17 patients a squamous or a cicatricial epithelium of variable thickness covered the dome of the lesions, while the base was covered with full-thickness skin. In one case the skin was entirely normal. Four patients displayed associated CNS malformations and three more had systemic congenital anomalies. All patients underwent surgical exploration and the length of time between birth and surgery ranged from 6 h to 9 months. The most frequent surgical finding, seen in 14 patients, was a stalk connecting the dorsal surface of the spinal cord to the cyst. In three patients the findings were consistent with myelocystocele. Only in one case was a true meningocele found. Hydrocephalus and Chiari II malformation were not as consistently associated as in myelomeningoceles. Neurological signs and symptoms were not so marked as in myelomeningoceles and were found in the follow-up of four patients. In two of them there was a non-progressive deficit, probably expressing an imperceptible involvement of the nervous system in the first year of life. The histopathological findings were of three types: neuroglial stalks, fibrovascular stalks and myelocystoceles.Conclusions Cystic dysraphisms of the cervical and upper thoracic region differ clinically and structurally from meningomyelocele and have a more favorable outcome. We believe that these malformations have not been properly labeled and propose a classification based on the structures found inside the cyst.