SHOX far-downstream deletion in a patient with nonsyndromic short stature.

Haploinsufficiency of SHOX represents one of the major genetic causes of nonsyndromic short stature. To date, eight DNA elements around SHOX exons have been proposed as putative enhancer regions. Although six copy-number variations (CNVs) downstream to the known enhancer regions have recently been identified in patients with short stature, the pathogenicity of these CNVs remains uncertain. Here, we identified a paternally derived SHOX far-downstream deletion in a boy. The deletion involved a ~100 kb genomic interval at a position >60 kb away from the known enhancer regions. The boy exhibited moderate short stature with nonspecific skeletal changes. The height of the father was within the normal range but lower than the mid-parental height. The deletion of the boy and the six previously reported CNVs mostly overlapped; however, all CNVs had unique breakpoints. The deletion of our case encompassed a ~30 kb genomic interval that has previously been associated with a 4C-seq peak, as well as several SHOX-regulatory SNPs/indels. These results indicate that the SHOX far-downstream region contains a novel cis-acting enhancer, whose deletion leads to nonsyndromic short stature of various degree. In addition, our data highlight genomic instability of SHOX-flanking regions that underlies diverse nonrecurrent CNVs.

The relationship between visuospatial ability and cognitive function in patients with right-hemisphere infarction.

INTRODUCTION: The relationship between visuospatial ability and cognitive function is still controversial among the patients with right-hemisphere damage. AIM: To elucidate the relationship between the visuospatial ability and cognitive function in patients with right-hemisphere infarction, we analyzed the mini-mental state examination (MMSE) and behavioral inattention test (BIT). METHODS: The present study was based on 54 right-handed patients (35 men, 19 women; 69.3 ± 11.1 years old) who were admitted to our hospital due to the right-hemisphere infarction in acute and subacute stages. Those who showed recent bilateral or infero-tentorial lesions were excluded. A total of 77 sets of MMSE and BIT Japanese edition were carried out. BIT is consisted of conventional and behavioral subtest, and conventional subtest includes 6 subtests: line cancelation, star cancelation and character cancelation subtests were categorized as intentional tasks, whereas copy, line bisection, and drawing subtests as attentional tasks. RESULTS: With Spearman's rank correlation, there was a significant correlation between MMSE score and number of errors in the attentional tasks (p=0.0022, ρ=-0.352), whereas there was no significant correlation between MMSE score and number of errors in the intentional tasks (p=0.1769). CONCLUSION: Since the attentional tasks of BIT were more deeply influenced by cognitive function than the intentional tasks, the visuospatial ability reflecting in the attentional tasks was considered to be more closely associated with the cognitive function among the patients with cerebral infarction on their right cerebral hemisphere.

Possibility of oral feeding after induction of percutaneous endoscopic gastrostomy.

BACKGROUND AND AIM: Although percutaneous endoscopic gastrostomy (PEG) has become established as a useful enteral nutrition technique, the associated risks must always be kept in mind. Recently, we experienced several patients who could orally ingest after PEG. To avoid unnecessary PEG, we investigated patients who could orally ingest after PEG, and analyzed predictive factors of postoperative oral feeding. METHODS: We retrospectively analyzed data of 302 patients who underwent PEG at our hospital. After all patients were divided according to postoperative oral feeding status, we assessed factors of patients' backgrounds. In patients who could orally ingest after PEG, we investigated the course of oral feeding status. We attempted to identify predictive factors for postoperative oral feeding using logistic regression analysis. RESULTS: Mean age was high in both groups, and overall condition was markedly poor. Forty-four patients (15%) were able to ingest orally after PEG. Enteral nutrition could be avoided during our observation period in 15 cases, because sufficient oral intake was achieved. Conversely, oral feeding was reduced or discontinued in 14 cases. Multivariate analysis identified the following independent predictive factors for postoperative oral feeding: (i) absence of dysphagia or aphagia; (ii) younger age; (iii) favorable performance status; (iv) presence of post-traumatic encephalopathy; and (v) preoperative swallowing training. CONCLUSIONS: A total of 15% of PEG cases were able to ingest orally after PEG. In patients showing positive predictive factors, indications for PEG should be carefully considered.

Investigation and prediction of enteral nutrition problems after percutaneous endoscopic gastrostomy.

AIM: To investigate and predict enteral nutrition problems after percutaneous endoscopic gastrostomy (PEG). METHODS: We retrospectively analyzed data for 252 out of 285 patients who underwent PEG at our hospital from 1999 to 2008. Enteral nutrition problems after PEG were defined as: (1) patients who required > or = 1 mo after surgery to switch to complete enteral nutrition, or who required additional parenteral alimentation continuously; or (2) patients who abandoned switching to enteral nutrition using the gastrostoma and employed other nutritional methods. We attempted to identify the predictors of problem cases by using a logistic regression analysis that examined the patients' backgrounds and the specific causes that led to their problems. RESULTS: Mean age of the patients was 75 years, and in general, their body weight was low and their overall condition was markedly poor. Blood testing revealed that patients tended to be anemic and malnourished. A total of 44 patients (17.5%) were diagnosed as having enteral nutrition problems after PEG. Major causes of the problems included pneumonia, acute enterocolitis (often Clostridium difficile-related), paralytic ileus and biliary tract infection. A multivariate analysis identified the following independent predictors for problem cases: (1) enteral nutrition before gastrectomy (a risk reduction factor); (2) presence of esophageal hiatal hernia; (3) past history of paralytic ileus; and (4) presence of chronic renal dysfunction. CONCLUSION: Enteral nutrition problems after PEG occurred at a comparatively high rate. Patient background analysis elucidated four predictive factors for the problem cases.

Clostridium difficile-associated enteric disease after percutaneous endoscopic gastrostomy.

BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) has become established as a useful enteral nutrition technique. Although various adverse events related to PEG are known, few reports have described Clostridium difficile-associated enteric disease (CDED) after PEG. We encountered several cases of CDED with onset soon after PEG. The present study examined these cases in detail and analyzed potential risk factors. METHODS: A total of 239 patients underwent PEG at our hospital from 1999, and the subjects comprised 233 patients for whom data could be statistically analyzed. CDED with onset soon after PEG was defined for cases with symptoms within 1 month after PEG. We investigated features and prognosis of these cases. A total of 19 predictors were chosen, and logistic regression analysis was performed using CDED with onset soon after PEG as a dependent variable. RESULTS: Mean patient age was high, and about 65% were men. Their body weights were low and their general condition was markedly poor. CDED with onset soon after PEG was shown in 15 patients (6.4%). Although oral administration of vancomycin resulted in prompt recovery in most cases, enteral nutrition was interrupted for a long period, and the general condition deteriorated markedly in two patients. Logistic regression analysis identified "past history of CDED" and "antibiotic dosing period at PEG" as risk factors for CDED onset soon after PEG. CONCLUSIONS: CDED occurred with onset soon after PEG at a comparatively high rate. Our analysis suggested "past history of CDED" and "antibiotic dosing period at PEG" as risk factors for CDED after PEG.