Identification of CD133+ cells in pituitary adenomas

Stem-like cells in tumors are capable of self-renewal and pluri-differentiation; they are thought to play important roles in tumor initiation and maintenance. Stem-like cells in malignant glioma express CD133. We examined samples from human pituitary adenoma, a generally benign neoplasm, for CD133 expression using routine immunohistochemical and biochemical methods. Our study of 70 pituitary adenomas (clinically nonfunctioning adenomas and growth hormone-, prolactin-, adrenocorticotropic hormone-, and thyroid-stimulating hormone-producing adenomas) showed that 18 (25.7%) expressed CD133. This rate was higher in clinically nonfunctioning (33.3%) than functioning adenomas (12.0%) (p = 0.085). Real-time PCR assay revealed the expression of CD133 mRNA in samples immunohistochemically positive for CD133. Neither the patient age and gender, nor the tumor size or postoperative recurrence rate correlated with CD133 positivity. CD133+ cells ubiquitously coexpressed CD34, nestin, and VEGFR2 (KDL1). S-100 and GFAP were not coexpressed with CD133. Chromogranin A, Pit-1, SF-1, and NeuroD1 were immune-negative, indicating that CD133+ cells did not have the potential to differentiate into functional endocrine cells. Our data suggest that the expression of CD133 in pituitary adenomas is related to immature endothelial progenitor cells that may play a role in the neovascularization of pituitary adenomas. Further studies are needed to elucidate the significance of CD133+ cells with respect to neovascularization and their sustainable growth in pituitary adenomas.     

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. A muscle biopsy showed active necrotic and regenerative processes. These distinct clinical findings prompted a mutational analysis of the lamin A (LMNA) gene, and we identified a novel heterozygous mutation in LMNA (c.1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head.     

MRI findings in patients with central neurocytomas with special reference to differential diagnosis from other ventricular tumours near the foramen of Monro

We retrospectively evaluated 12 patients with histologically verified central neurocytoma (CN) to identify the MRI characteristics associated with this tumour. All tumours had heterogeneous signal intensity in their solid components and seven had a "soap bubble" or spongy appearance. Spicules were identified at the tumour periphery interfacing with the lateral ventricular walls. These spicules were formed by walls of multiple cysts of medium size. Undulation of the lateral ventricular wall attached to the tumour capsule was seen in nine patients. These spicules and undulations resulted in a "scalloping" appearance. In a diagnostic experiment to test the differential diagnosis of CN from other neoplasms near the foramen of Monro, the identification of scalloping made a greater contribution to the specificity and accuracy of the diagnosis than the soap bubble appearance. Thus, recognition of multiple cystic interfaces between the solid part of the tumour and the lateral ventricular wall on MRI may contribute to a correct preoperative diagnosis of CN.     

Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy

We, for the first time, report a boy with West syndrome associated with Klinefelter's syndrome. He developed episodes of repetitive tonic spasms at the age of 4 months. He had developmental delays and hypsarrhythmia on interictal electroencephalography recording. His karyotype turned out to be 47, XXY, while we failed to observe anomalies in his appearance. Adrenocorticotropic hormone therapy with antiepileptic drugs resulted in cessation of tonic spasms, and his developmental quotient was improved by the age of 1 year. Further studies are needed to determine the causal association between West syndrome and Klinefelter's syndrome.     

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy

Background

Skeletal muscle metabolism is a major determinant of resting energy expenditure (REE). Although the severe muscle loss that characterizes Duchenne muscular dystrophy (DMD) may alter REE, this has not been extensively investigated.

Methods

We studied REE in 77 patients with DMD ranging in age from 10 to 37 years using a portable indirect calorimeter, together with several clinical parameters (age, height, body weight (BW), body mass index (BMI), vital capacity (VC), creatine kinase, creatinine, albumin, cholinesterase, prealbumin), and assessed their influence on REE. In addition, in 12 patients maintaining a stable body weight, the ratio of energy intake to REE was calculated and defined as an alternative index for the physical activity level (aPAL).

Results

REE (kcal/day, mean ± SD) in DMD patients was 1123 (10–11 years), 1186 ± 188 (12–14 years), 1146 ± 214 (15–17 years), 1006 ± 136 (18–29 years) and 1023 ± 97 (?30 years), each of these values being significantly lower than the corresponding control (p < 0.0001). VC (p < 0.001) was the parameter most strongly associated with REE, followed by BMI (p < 0.01) and BW (p < 0.05). The calculated aPAL values were 1.61 (10–11 years), 1.19 (12–14 years), 1.16 (15–17 years), and 1.57 (18–29 years).

Conclusion

The REE in DMD patients was significantly lower than the normal value in every age group, and strongly associated with VC. Both the low REE and PAL values during the early teens, resulting in a low energy requirement, might be related to the obesity that frequently occurs in this age group. In contrast, the high PAL value in the late stage of the disease, possibly due to the presence of respiratory failure, may lead to a high energy requirement, and thus become one of the risk factors for development of malnutrition.     

Appraisal of a copresent observer as supportive activates the left inferior parietal lobule: a near-infrared spectroscopy study using a driving video game

The role of the presence of others in a social context has been debated widely. Although the importance of mutual cognitive functions between performer and observer is generally accepted, little is known about the neural correlates of paired performers and observers themselves. In this near-infrared spectroscopy (NIRS) study we measured the activation in the bilateral inferior parietal lobule (IPL) when driver-observer pairs of participants performed a driving video game task. The performer's task was to drive from start to goal using a default route map, while their partner observed the performance. According to the performer's subjective appraisal of the copresent observer obtained after the driving task, the pairs were divided into three groups: supportive, nonsupportive, and neutral. The driving time, error, and tension score did not show significant differences between the three groups. However, NIRS data of performers in the supportive group showed significantly higher activation in the left IPL than those in the nonsupportive group, but not in the right IPL. NIRS data of observers in the concerned two groups did not show significant differences bilaterally in IPL. These results suggest that the left IPL distinctively responds according to a performer's cognitive appraisal of a copresent observer.     

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

We describe two individuals with the same chromosomal aberrations derived from an unbalanced translocation between chromosomes 8p and 9p, who presented with intellectual disabilities, dysmorphic features, and localization-related epilepsy. Several years after the onset of epilepsy, aggravation of widespread epileptic discharges during sleep resulted in the emergence of absence and/or atonic seizures in both patients; one patient additionally presented with psychomotor deterioration. These symptoms completely disappeared after treatment with ethosuximide and benzodiazepines, and marked improvement was observed in electroencephalographic findings. We review the clinical features of der(8)t(8;9) with particular focus on epileptic complications. We conclude that particular types of chromosomal aberrations may have a propensity to develop the condition categorized as electrical status epilepticus in sleep.     

Relationship between Barrett’s esophagus and colonic diseases: a role for colonoscopy in Barrett’s surveillance

Journal of Gastroenterology - Given that risk factors for Barrett’s carcinogenesis are predictive, appropriate management and surveillance of Barrett’s esophagus (BE) may be provided....