Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

Early spinal rigidity is a nonspecific feature reported in diseases such as neuromuscular and central movement disorders. We present a male patient with rigid spine muscular dystrophy caused by newly identified compound heterozygote mutations of the selenoprotein N gene and discuss this disease as a possible differential diagnosis for early-onset reduced spine mobility. Rigid spine muscular dystrophy is a rare myopathy presenting in childhood with a typical combination of stable or slowly progressive mild to moderate muscle weakness, limitation in flexion of the spine, and progressive restrictive ventilatory disorder. The clinical features of our patient include early-onset rigidity of his spine, scoliosis, mild muscular weakness predominantly of neck and trunk flexors, and restrictive ventilatory disorder. Biopsy of the biceps muscle revealed nonspecific myopathic changes, and molecular analysis confirmed the diagnosis of rigid spine muscular dystrophy. Thus, neuromuscular diseases such as muscular dystrophy must be considered in all patients presenting with early spinal rigidity, and genetic determination is a possible way to determine the diagnosis.     

Comparison of various spasmolytic drugs on guinea-pig isolated common bile duct

Summary Guinea-pig common bile duct preparations were used to quantify the spasmolytic potency of N-butylscopolamine (NBS), papaverine, gallopamil and nifedipine. A method was developed which allowed the measurement of intraluminal pressure changes in vitro. Barium chloride, carbachol and a solution with elevated potassium concentrations were used to stimulate smooth muscles. Concentration-response relationships for the spasmogens as well as for the spasmolytic drugs were evaluated in a cumulative manner. Furthermore, noncumulative concentration-response curves were constructed for carbachol in the absence and presence of NBS.The -log EC₅₀-values of the spasmogens were found to be 3.28±0.08 (BaCl₂), 6,46±0.07 (carbachol) and 1.31±0.08 (KCI), respectively. The E_max values of carbachol and potassium were comparable, and were twice as high as the E_max of BaCl₂. Papaverine was less potent than the calcium antagonists gallopamil and nifedipine, but proved capable of completely suppressing elevated muscular tone of the common bile duct preparation, independent of the stimulus used. NBS showed a high potency in suppressing only a carbachol-induced pressure increase, while it was rather ineffective when BaCl₂ or a high potassium solution was used as the spasmogen. The concentration-response-curve for carbachol was shifted to the right in a parallel manner by NBS. Only a slight depression of E_max was observed.From the results it is concluded that NBS acts mainly as a muscarinic receptor antagonist. The high potency found for the calcium antagonists, gallopamil and nifedipine, in this model may indicate a possible role for these compounds in the treatment of biliary colic. Send offprint requests to M. Pfaffendorf at the above address     

Mental health policies and changes in emergency service demand

OBJECTIVE: To verify the modifications observed in a school hospital psychiatric emergency unit in Ribeir?o Preto - SP, Brazil (EP-RP), due to alterations in the mental health policies implemented in this region. METHODS: Data about attendances was collected from university hospital files of the EP-RP, from 1988 to 1997. The following variables were studied: sex, age, origin and main diagnosis. Data about changes in mental health policies of the region was obtained from documents of the city and state departments of health. RESULTS: The yearly increase in the number of attendances followed the progressive involvement of EP-RP with the mental health service network, as the number of patients who looked for the service in 1995 was 2.3 times greater than in 1988. During this period, attendance at the EP-RP gave support to the modifications in the mental health policies in this region, resulting in a reduction of 654 psychiatry beds. In 1996 and 1997, a reduction of about 20% was observed in the total of attendance, as compared to 1995, result from an increase in the attendance capacity and number of the extra-hospital services. Since 1990, the EP-RP started to attend a higher proportion of older, male patients, with drug dependency and psychotic disorders and a lower proportion of non-psychotic patients. CONCLUSIONS: The changes observed in the EP-RP are related to modifications in the Ribeir?o Preto region mental health policies, like the psychiatric beds control, installed in 1990, the reduction of psychiatric beds after 1993, and the creation and/or amplification of extra-hospital services, in 1995.     

Behavior of rhesus monkeys raised in isolation

A number of animal studies have demonstrated the important influences of experience acquired during infancy and childhood on later behavior. (For views see and ¹, and ².) In his discussion of parameters relevant to studies concerning the effects of early experience on adult behavior patterns. ³ recognizes seven variables as particularly significant. Among these are included (a) the duration or quantity of the experience; (b) the type or quality of the experience, and (c) the type of performance measure obtained.

This report is primarily concerned with the effects of the second of these factors, the type or quality of the experience, on the social and manipulatory responsiveness of young rhesus monkeys. In previous studies the social behavior of adolescent monkeys raised from infancey in individual wire mesh cages was compared with the behavior of wild-born animals the same age. Laboratory-reared monkeys fought more than feral animals, groomed less and were deficient in their sexual performance⁴. In the present experiment the behavior of pubescent monkeys reared in the ordinary laboratory environment, as were the restricted subjects of the earlier experiment, is compared with the behavior of monkeys exposed from infancy to a more severe form of environmental restriction.     

Pulmonary Resection after Radiosurgery and Neoadjuvant Immunochemotherapy for NSCLC Patients with Synchronous Brain Metastasis—A Case Series of Three Patients

Simple SummaryIn this short communication, we present three cases of patients with symptomatic, synchronous brain metastases of otherwise locally limited non-small cell lung cancer. The patients received local ablative treatment of the brain metastases followed by neoadjuvant immunochemotherapy with pemetrexed, cisplatin, and pembrolizumab, and resection of the pulmonary lesion with curative intent. With two of the patients still alive and maintaining a good quality of life with a progression-free survival and overall survival of 28 and 35 months, respectively, this case series illustrates the potential of novel combinatorial treatment approaches.AbstractBrain metastases are a common finding upon initial diagnosis of otherwise locally limited non-small cell lung cancer. We present a retrospective case series describing three cases of patients with symptomatic, synchronous brain metastases and resectable lung tumors. The patients received local ablative treatment of the brain metastases followed by neoadjuvant immunochemotherapy with pemetrexed, cisplatin, and pembrolizumab. Afterwards, resection of the pulmonary lesion with curative intent was performed. One patient showed progressive disease 12 months after initial diagnosis, and passed away 31 months after initial diagnosis. Two of the patients are still alive and maintain a good quality of life with a progression-free survival and overall survival of 28 and 35 months, respectively, illustrating the potential of novel combinatorial treatment approaches.