Progressive subglottic stenosis in a child with Pallister‐Killian syndrome

Pallister‐Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis.     

Predictive equations for the estimation of body size in seals and sea lions (Carnivora: Pinnipedia)

Body size plays an important role in pinniped ecology and life history. However, body size data is often absent for historical, archaeological, and fossil specimens. To estimate the body size of pinnipeds (seals, sea lions, and walruses) for today and the past, we used 14 commonly preserved cranial measurements to develop sets of single variable and multivariate predictive equations for pinniped body mass and total length. Principal components analysis (PCA) was used to test whether separate family specific regressions were more appropriate than single predictive equations for Pinnipedia. The influence of phylogeny was tested with phylogenetic independent contrasts (PIC). The accuracy of these regressions was then assessed using a combination of coefficient of determination, percent prediction error, and standard error of estimation. Three different methods of multivariate analysis were examined: bidirectional stepwise model selection using Akaike information criteria; all‐subsets model selection using Bayesian information criteria (BIC); and partial least squares regression. The PCA showed clear discrimination between Otariidae (fur seals and sea lions) and Phocidae (earless seals) for the 14 measurements, indicating the need for family‐specific regression equations. The PIC analysis found that phylogeny had a minor influence on relationship between morphological variables and body size. The regressions for total length were more accurate than those for body mass, and equations specific to Otariidae were more accurate than those for Phocidae. Of the three multivariate methods, the all‐subsets approach required the fewest number of variables to estimate body size accurately. We then used the single variable predictive equations and the all‐subsets approach to estimate the body size of two recently extinct pinniped taxa, the Caribbean monk seal (Monachus tropicalis) and the Japanese sea lion (Zalophus japonicus). Body size estimates using single variable regressions generally under or over‐estimated body size; however, the all‐subset regression produced body size estimates that were close to historically recorded body length for these two species. This indicates that the all‐subset regression equations developed in this study can estimate body size accurately.     

Lifestyle intervention might easily improve blood pressure in hypertensive men with the C genotype of angiotensin II type 2 receptor gene

BACKGROUND/OBJECTIVESRecent studies have reported an association of the angiotensin II type 2 receptor (AT2R) 3123Cytosine/Adenine (3123C/A) polymorphism with essential hypertension and cardiovascular diseases. The purpose of the study was to investigate whether the AT2R 3123C/A polymorphism affects blood pressure for free-living hypertensive men during a 5-month intervention period.SUBJECTS/METHODSThe subjects were free-living hypertensive Japanese men aged 40 to 75 years who agreed to intervention in the period from 2004 to 2011. Detection of the AT2R 3123C/A polymorphism was determined by polymerase chain reaction. The dietary intervention was designed to decrease salt level and to increase potassium level through cooking instructions and self-monitoring of the diet. The exercise session consisted of activities such as stretching, resistance training, and walking. Blood pressure, urinary sodium and potassium excretion, dietary and lifestyle data, and non-fasting venous blood sample were collected at baseline and after the intervention period.RESULTSThirty nine subjects were eligible for participation and the follow-up rate was 97.4%. The C allele proportion was 57.9%. AT2R 3123C/A polymorphism was X-chromosome-linked, therefore we analyzed the C and A genotypes. At baseline, no significant differences were observed between the genotype groups. After the intervention, there were no significant differences in lifestyle habit between the groups. Nevertheless, the estimated salt excretion (g/day) was significantly decreased only in the C genotype (13.0-10.3, P = 0.031). No significant change was observed in systolic blood pressure (SBP) (mmHg) in the A genotype, but a significant decrease was observed in the C genotype (150.0-141.5, P = 0.024).CONCLUSTIONSIn the C genotype, it might be easy to improve SBP through lifestyle intervention in free-living hypertensive Japanese men, however generalization could not be achieved by the small sample size.     

Cold snare polypectomy: Indications,devices, techniques,outcomes and future

Colonoscopy has been shown to reduce the risk of colon cancer by enabling the removal of precancerous lesions. Although cold snare and hot snare polypectomy have similar retrieval rates and complete resection rates, rates of delayed bleeding tend to be lower with cold snare polypectomy than with hot snare polypectomy, especially for patients taking antithrombotic agents. However, among cold snares there may be differences in terms of the completeness of polyp excision, as complete removal appears more likely with thin‐wire dedicated cold snares compared to the traditional, thick‐wire cold snares. Cold snare polypectomy may be especially well suited for use in patients taking antithrombotic agents, due to its minimal risk of delayed bleeding. Histological analyses suggest that cold snare polypectomy causes less damage to blood vessels in the submucosal layers, which results in a reduced incidence of hemorrhage compared to hot snare polypectomy. However, cold snare removal of small polyps may result in fragmentation of small specimens during collection and concerns as to whether the resection is complete. An endoscopy biomarker of effective cold snare polypectomy technique is needed to ensure complete removal of non‐pedunculated colorectal polyps ≤10 mm. Future uses of cold snare polypectomy may include piecemeal removal of sessile serrated adenoma/polyp lesions >10 mm. Currently, cold snare polypectomy should be considered a primary method for colorectal polyps of less than 10 mm, especially those in the 4‐ to 10‐mm range.     

A successful antimicrobial therapeutic strategy for the discitis caused by Aggregatibacter actinomycetemcomitans under unknown drug susceptibility: A case report

Aggregatibacter actinomycetemcomitans is well-known as the pathogen of gingivitis or periodontitis, and discitis or vertebral osteomyelitis cases caused by this organism have rarely been reported. Ampicillin or amoxicillin has been used in the previously reported discitis cases; however, no cases have been reported that is treated with levofloxacin. We report the first published case we chose levofloxacin to treat. We failed to perform the susceptibility testing because of the poor growth and fastidious nature of the organism, and the result of susceptibility of amoxicillin was unclear. Levofloxacin, which A. actinomycetemcomitans is usually susceptible to, can be an effective alternative oral antimicrobial agent in such cases.     

Fetal facial expressions in small-for-gestational-age and growth-restricted fetuses

Objective: To evaluate the frequencies of fetal facial expressions among appropriate-for-gestational-age (AGA), small-for-gestational-age (SGA), and growth-restricted (FGR) fetuses.

Methods: Four-dimensional (4D) ultrasound was used to examine the facial expressions of 50 AGA, 25 SGA, and six FGR fetuses between 28 and 35 weeks of gestation. The frequencies of seven facial expressions during 15-minute recordings were assessed. Comparison of facial expressions among the three groups was performed.

Results: Mouthing was the commonest facial expression at 28–35 weeks, and the frequency of mouthing was significantly higher than those of the other six facial expressions in AGA fetuses. Mouthing was the most frequent facial expression, but there was no significant difference in the frequency among mouthing, smiling and blinking in SGA fetuses. Moreover, mouthing displayed a significantly higher frequency than the other facial expressions, except for yawning, smiling, and blinking in FGR fetuses. However, there was no significant difference in the frequency of each facial expression among the three groups.

Conclusions: Our results suggest that the frequencies of fetal facial expressions are not decreased in either SGA or FGR pregnancies. The absence of a decrease in the frequency of each fetal expression in FGR fetuses may be due to increased brain blood flow because of the brain-sparing effect. Moreover, accelerated maturation and development of the brain function, especially the central dopamine system, might be suspected in SGA and FGR fetuses.