A dominantly inherited malformation syndrome with short stature,upper limb anomaly,minor craniofacial anomalies,and absence of TBX5 mutations: Report of a Thai family

We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc.     

Sialolipoma of the hard palate

Sialolipoma is a new variant of salivary gland lipoma, which was first proposed by Nagao et al. (Histopathology 2001; 38: 30) in 2001. We report this rare case of sialolipoma in the hard palate. A 60-year-old Japanese woman was referred to our department complaining of a painless swelling on the right side of the hard palate. Intra-oral examination revealed a soft, elastic, dome-shaped mass with 1 cm in diameter located in the posterior part of the hard palate. Magnetic resonance imaging examination revealed high intensity on T(1)-weighted image and isointensity on T(2)-weighted image. Incisional biopsy revealed that the tumor was encapsulated by fibrous tissue, consisted of adipose tissue, and also contained normal salivary gland tissue peripherally. First diagnosed as an ordinary lipoma of the hard palate, the tumor was excised. According to the recent criteria of histologic findings of sialolipoma, we rediagnosed the tumor as sialolipoma of the hard palate.     

Optimization of self-reference thermometry using complex field estimation.

Referenceless, or self-reference, thermometry is a technique for mapping temperature differences in the region of interest (ROI) using the baseline phase estimated by extrapolating the field in the surrounding region for estimation (RFE) and subtracting the estimated baseline from the measured field. In the present work a self-reference technique based on complex field estimation using 2D polynomials comprising complex-valued coefficients was proposed and optimized. Numerical simulations with a Gaussian-profiled phase distribution demonstrated that the ROI radius had to be 2.3-2.5 times the standard deviation (SD) of the Gaussian function in order to keep the error below 8% of the peak phase change. The area ratio between the ROI and the RFE had to be larger than 2.0 to maintain the error level. Based on the simulations, and phantom and volunteer experiments, the complex-based method with independently optimized polynomial orders for the two spatial dimensions was compared with the phase-based method using the similar-order optimization strategy. The complex-based method appeared to be useful when phase unwrapping was not removed. Otherwise, the phase-based method yielded equivalent results with less polynomial orders.     

Computerized tomography observation of a calcifying cystic odontogenic tumor with an odontoma: case report.

The calcifying cystic odontogenic tumor is a rare benign odontogenic lesion. This report documents a case of this lesion associated with odontoma arising from the anterior maxilla in a 14-year-old boy. The diagnosis was confirmed based on computerized tomography findings, which clearly depicted the internal structures obscured in conventional images.     

Enhanced phagocytosis of rat alveolar macrophages by intravenous infusion of an arginine-enriched solution.

Phagocytosis of rat alveolar macrophages (AM) was enhanced by the infusion of arginine-rich solution for 7 days. The enhancement of phagocytosis by arginine-rich solution was due to not the difference in the distribution of AM subpopulations (I to IV) but the difference in phagocytic activity of AM in fraction IV. In the process of phagocytosis, there were no significant differences in the stages of migration, attachment, and digestion between control and arginine-rich solutions, although AM from fraction IV of rats infused with arginine-rich solution showed significantly higher ingestion of opsonized sheep red blood cells (SRBC) compared to that of control group. Furthermore, the production of macrophage-activating factor (MAF) from rat splenocytes was higher in arginine-rich group than that of control group. AM from fraction IV of rats fed a stock diet had a higher arginase activity and showed a significant increase of phagocytosis following in vitro incubation with L-arginine (25 and 50 mM) for 24 h. From these results, the enhanced phagocytosis of AM by arginine-rich solution may be due to the increased phagocytosis of AM from fraction IV, in which the higher sensitivity of AM from fraction IV to arginine and the higher production of MAF from splenocytes following the infusion of arginine-rich solution participate.     

A nonsynonymous polymorphism in the human fatty acid amide hydrolase gene did not associate with either methamphetamine dependence or schizophrenia

Genetic contributions to the etiology of substance abuse and dependence are topics of major interest. Acute and chronic cannabis use can produce drug-induced psychosis resembling schizophrenia and worsen positive symptoms of schizophrenia. The endocannabinoid system is one of the most important neural signaling pathways implicated in substance abuse and dependence. The fatty acid amide hydrolase (FAAH) is a primary catabolic enzyme of endocannabinoids. To clarify a possible involvement of FAAH in the etiology of methamphetamine dependence/psychosis or schizophrenia, we examined the genetic association of a nonsynonymous polymorphism of the FAAH gene (Pro129Thr) by a case-control study. We found no significant association in allele and genotype frequencies of the polymorphism with either disorder. Because the Pro129Thr polymorphism reduces enzyme instability, it is unlikely that dysfunction of FAAH and enhanced endocannabinoid system induce susceptibility to either methamphetamine dependence/psychosis or schizophrenia.     

Pre-elastofibroma-like colonic polyp: another cause of colonic polyp

We present a case of pre-elastofibroma-like lesion, a kind of elastic-producing fibrous tumor. The small colonic polyp, which was found in a 49-year-old asymptomatic man in association with a large colonic adenoma, showed submucosal nodular deposits of fine granular or fibrillar eosinophilic materials with interspersed fibroblastic cells. Elastic stain revealed these deposits to consist mainly of dark gray granular or partially fibrillar dense elastinophilic materials, most of which were digested with elastase. This stromal lesion somewhat resembled a pre-elastofibroma. Therefore, pre-elastofibroma-like lesions should be kept in mind as a possible origin of colonic polyp.     

No evidence of PEG1/MEST gene mutations in Silver‐Russell syndrome patients

Silver‐Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (α and β) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST α coding region, and there were no significant mutations in the 5′‐flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST α were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS. © 2001 Wiley‐Liss, Inc.     

YouTube Videos Demonstrating the Nasopharyngeal Swab Technique for SARS-CoV-2 Specimen Collection: Content Analysis

BackgroundReal-time polymerase chain reaction using nasopharyngeal swabs is currently the most widely used diagnostic test for SARS-CoV-2 detection. However, false negatives and the sensitivity of this mode of testing have posed challenges in the accurate estimation of the prevalence of SARS-CoV-2 infection rates.ObjectiveThe purpose of this study was to evaluate whether technical and, therefore, correctable errors were being made with regard to nasopharyngeal swab procedures.MethodsWe searched a web-based video database (YouTube) for videos demonstrating SARS-CoV-2 nasopharyngeal swab tests, posted from January 1 to May 15, 2020. Videos were rated by 3 blinded rhinologists for accuracy of swab angle and depth. The overall score for swab angle and swab depth for each nasopharyngeal swab demonstration video was determined based on the majority score with agreement between at least 2 of the 3 reviewers. We then comparatively evaluated video data collected from YouTube videos demonstrating the correct nasopharyngeal swab technique with data from videos demonstrating an incorrect nasopharyngeal swab technique. Multiple linear regression analysis with statistical significance set at P=.05 was performed to determine video data variables associated with the correct nasopharyngeal swab technique.ResultsIn all, 126 videos met the study inclusion and exclusion criteria. Of these, 52.3% (66/126) of all videos demonstrated the correct swab angle, and 46% (58/126) of the videos demonstrated an appropriate swab depth. Moreover, 45.2% (57/126) of the videos demonstrated both correct nasopharyngeal swab angle and appropriate depth, whereas 46.8% (59/126) of the videos demonstrated both incorrect nasopharyngeal swab angle and inappropriate depth. Videos with correct nasopharyngeal swab technique were associated with the swab operators identifying themselves as a medical professional or as an Ear, Nose, Throat–related medical professional. We also found an association between correct nasopharyngeal swab techniques and recency of video publication date (relative to May 15, 2020).ConclusionsOur findings show that over half of the videos documenting the nasopharyngeal swab test showed an incorrect technique, which could elevate false-negative test rates. Therefore, greater attention needs to be provided toward educating frontline health care workers who routinely perform nasopharyngeal swab procedures.     

Validity of observed differences in dietary surveys by two self-administered questionnaires over a 5-year period: Concordance with self-reported change

Differences observed by comparing the responses to two surveys taken 5 years apart were compared with self-reported changes in dietary habits in the second survey to examine the construct validity of dietary change. That is, when an observed difference about a certain food was consistent with a self-reported change, these two methods seemed to show a high validity regarding dietary change. Both surveys used the same self-administered food intake frequency questionnaire, and subjective changes in food intake were evaluated at the second survey (self-reported change). Eight hundred fifty-five males and one thousand females aged 30-69 years were analyzed. Since results by both methods showed a higher frequency of increased intake of green-yellow vegetables in general, pale- colored vegetables in general, carrots, and squash, these results were thought to be of high validity. However, cabbage, lettuce, and seaweeds showed inconsistent results regarding higher frequencies of intake. Changes among quintiles of lower frequency seemed to show lower validity because the results obtained by the two methods were often inconsistent for dairy foods and some other foods. Thus, self-reported changes may reflect respondents’ attitudes toward foods, not their actual behavior.