A false positive serology test of SARS­CoV­2 in a patient with Waldenström's macroglobulinemia: A case report.

The serology test of SARS-CoV-2 is one of the critical assays to make a diagnosis of SARS-CoV-2 infection. The gold immunochromatography assay (GICA) is a common measure to test SARS-CoV-2 specific IgG and IgM. The sensitivity and specificity of the assay are ~>80%. It has been reported that the result of GICA could be compromised in various situations, such as auto-immune diseases, Kawasaki disease, pregnancy or other conditions. However, following the European Hematology Association's consensus statement on the management of Waldenström's Macroglobulinemia (WM) patients, serological tests for SARS-CoV-2 specific IgM should not be affected by the total IgM or paraprotein levels. The present study reports a patient with duplicate positive serology tests of SARS-CoV-2 which is hypothesized to be due to monoclonal IgM caused by WM.

Esthetics and smile-related characteristics assessed by laypersons.

PURPOSE: This study aimed to identify the characteristics of full-smile images assessed by laypersons using visual analog scale measurement. MATERIALS AND METHODS: A total of 176 young Chinese subjects (88 males and 88 females; 20-35 years of age) with healthy dentogingival tissue were recruited to have their dynamic smiles captured using digital technology. A full-smile frame image of each subject was selected and evaluated by 22 laypersons (11 males and 11 females; 20-35 years of age) using visual analog scale measurement. Unattractive and attractive groups were designated according to the 25th percentile and 75th percentile of average visual analog scale score for the subjects, respectively. Eight smile variables were used to measure the characteristics of the full-smile images. Pearson's Chi-square test and unpaired t tests were used to analyze the data with significance level α = 0.05. RESULTS: The visual analog scale measurement scores of unattractive and attractive subgroups, respectively, were 37.89 ± 2.12 and 50.67 ± 2.75 (male subjects), and 37.14 ± 2.80 and 51.92 ± 1.99 (female subjects). VAS scores were significantly different between subgroups for both male and female subjects (P < .001). No significant differences were observed between male and female subjects (P > .05). CONCLUSIONS: Attractive full-smiles in young Chinese subjects demonstrated higher frequencies of average or low anterior smile line, average or low posterior smile line, upward upper lip curvature, and "broad and short" smile with high smile index. CLINICAL SIGNIFICANCE: The smile variables of anterior smile line, posterior smile line, upper lip curvature, and smile index are predominant factors of smile attractiveness, which should be given priority to consider and manage in the anterior esthetic treatment plan.

Assessment of dynamic smile and gingival contour in young Chinese people.

OBJECTIVES: This study aimed to classify the dynamic smile and to quantify the gingival line (GL), as well as apico-coronal displacement of the gingival zenith (GZ), in the maxillary anterior dentition in a young Chinese population. METHODS: Two-hundred young Chinese subjects (100 men and 100 women; 20-35 years of age) with healthy dentogingival tissue were recruited. The dynamic smile process was captured using a digital camera. The smile type, GL type, the vertical distance of the GZ between the canine and the central incisor on the same side and the GZ of the lateral incisor-GL relationship were measured using a self-developed smile-analysis method. The kappa statistics was used to examine the reliability of the data recorded by the rater. The Pearson chi-square test was used to analyse the differences between subjects regarding the frequencies of smile type and GL type at α = 0.05. RESULTS: Data revealed that 45.5% of subjects had a high smile and 45.5% had an average smile; 58.2% of the subjects presented an upwards GL. The GZ of canine teeth was 0.33 mm apical to the corresponding central incisor and no significant difference between both sides of the GZ was observed. The GZ of the lateral incisor was located coronal to the GL in 87.9% of samples. The vertical distance between the GZ of the lateral incisor and the GL was 0.59 mm and no statistically significant difference was detected. CONCLUSIONS: The most common findings were a high or average smile type, combined with an upward GL. In the majority of subjects, the GZ of the lateral incisor is coronal to the GL. The apico-coronal displacement of the GZ showed bilateral symmetry.

[Mitochondrial tRNAIle A4317G mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation].

Mitochondrial 12S rRNA A1555G mutation has been associated with both aminoglycoside-induced and nonsyndromic hearing loss. In this report, we performed a clinical and genetic evaluation, and mitochondrial genome analysis of one hearing-impaired Chinese family carrying the A1555G mutation. Strikingly, the penetrances of hearing loss in this family, which were 81% and 66.7%, respectively, when aminoglycoside-induced hearing loss was included or excluded. The penetrances of hearing loss in this family were significantly higher than those in other Chinese families carrying the A1555G mutation. Sequence analysis of their mitochondrial genomes revealed the presence of homoplasmic tRNAIle A4317G mutations and 38 mtDNA polymorphisms belonging to East-Asian haplogroup B4c1b2. Further analysis revealed that other mitochondrial DNA variants were not functional significantly, while the A4317G mutation is localized to a highly conserved nucleotide (conventional site 59) at tRNAIle TΨC loop of tRNAIle. The mutation may alter secondary structure and function of this tRNA, thereby leading to mitochondrial dysfunction. Allelic analysis showed that this mutation was absent in 961 hearing normal Chinese controls. Thus, the altered tRNAIle metabolism by the A4317G mutation may aggravate mitochondrial dysfunction associated with the A1555G mutation, and contribute to the higher penetrance of hearing loss. Therefore, the tRNAIle A4317G mutation may act as a mitochondrial modifier to influence the phenotypic manifestation of the A1555G mutation.

Analysis of dynamic smile and upper lip curvature in young Chinese.

During smile evaluation and anterior esthetic construction, the anatomic and racial variations should be considered in order to achieve better matching results. The aims of this study were to validate an objective method for recording spontaneous smile process and to categorize the smile and upper lip curvature of Chinese Han-nationality youth. One hundred and eighty-eight Chinese Han-nationality youths (88 males and 100 females) ranged from 20 to 35 years of age were selected. Spontaneous smiles were elicited by watching comical movies and the dynamics of the spontaneous smile were captured continuously with a digital video camera. All subjects' smiles were categorized into three types: commissure, cuspid and gummy smile based on video editing software and final images. Subjects' upper lip curvatures were also measured and divided into three groups: upward, straight and downward. Reliability analysis was conducted to obtain intra-rater reliabilities on twice measurements. The Pearson Chi-square test was used to compare differences for each parameters (α=0.05). In smile classification, 60.6% commissure smile, 33.5% cuspid smile and 5.9% gummy smile were obtained. In upper lip measurement, 26.1% upward, 39.9% straight and 34.0% downward upper lip curvature were determined. The commissure smile group showed statistically significant higher percentage of straight (46.5%) and upward (40.4%) in upper lip curvatures (P<0.05), while cuspid smile group (65.1%) and gummy smile group (72.7%) showed statistically significant higher frequency in downward upper lip curvature (P<0.05). It is evident that differences in upper lip curvature and smile classification exist based on race, when comparing Chinese subjects with those of Caucasian descent, and gender.

[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].

Mitochondrial 12S rRNA A1555AG mutation is one of the important causes of aminoglycoside-induced and nonsyndromic deafness. We report here the clinical, genetic and molecular characterization of 25 Chinese families carrying the A1555G mutation.Clinical and genetic characterizations of these Chinese families exhibited a wide range of penetrance, severity and age-at-onset of hearing impairment. The average penetrances of deafness were 28.1% and 21.5%, respectively, when aminoglycoside-induced hearing loss was included or excluded. Furthermore, the average age-of-onset for deafness without aminoglycoside exposure ranged from 1 and 15 years old. Their mitochondrial genomes exhibited distinct sets of polymorphisms including 16 novel variants, belonging to ten Eastern Asian haplogroups A, B, D, F, G, M, N and R, respectively. Strikingly, these Chinese families carrying mitochondrial haplogroup B exhibited higher penetrance and expressivity of hearing loss. In addition, 7 known secondary mutations and 21 variants resided at the highly conservative residues may enhance the penetrace of hearing loss in these Chinese families. Moreover, the absence of mutation in GJB2 gene suggested that GJB2 may not be a modifier for the phenotypic expression of the A1555G mutation in these Chinese families. These observations suggested that mitochondrial haplotypes and other modifiers may modulate the variable penetrance and expressivity of deafness among these Chinese families.

[Hearing loss may be associated with the novel mitochondrial tRNA(Asp) A7551G mutation in a Chinese family].

OBJECTIVE: We reported here the clinical and genetic evaluations as well as mutational analysis of mitochondrial DNA(mtDNA) in a Chinese family with maternally transmitted non-syndromic hearing loss and investigated the influence of the mitochondrial tRNA(Asp) A7551G mutation to the phenotypic manifestation of the deafness. METHODS: One Chinese Han pedigrees of maternally transmitted nonsyndromic hearing loss were collected. The proband and family members underwent clinical, genetic, and molecular evaluations, such as audiological examinations, mutational analysis of mitochondrial genome and mutational analysis of GJB2 gene. RESULTS: Six people of this pedigree suffered from hearing loss, including four matrilineal members, and others did not have significant clinical abnormalities. Sequence analysis of the complete mitochondrial genome in the proband showed that there were 28 mtDNA polymorphisms belonging to East -Asian haplogroup A4.In addition to the A7551G homogeneity mutation, there were no other functionally significant variants found in this family. The A7551G mutation located immediately at the three prime end to the anticodon, corresponding with the conventional position 37 of tRNA(Asp), and its' CI value was 100% compared with other 15 primate species. The A7551G mutation was absent in other Chinese controls. The mutations on GJB2 were detected by direct sequence analysis,GJB2 235delC and 299delAT which was associated with hearing loss were found in the genomic DNA of the proband and some matrilineal members. Clinical evaluation showed a variable phenotype of severity, age-at-onset and audiometric configuration of hearing loss in the matrilineal relatives in these families. CONCLUSIONS: The A7551G mutation may modify the secondary structure of the tRNA, and affect the stabilization of tRNA(Asp), produce non-normal functional tRNA(Asp) ultimately. And it may cause the phenotypic manifestation of the deafness that associated with A7551G mutation. Therefore, the mitochondrial tRNA(Asp) A7551G mutation may be a new mitochondrial mutation for hearing loss.

[Molecular mechanisms underlying function of hair bundle: study on genetic deafness in mouse models].

Although the basic principles for the function of peripheral auditory system have been known for many years, the molecular mechanisms which affect deafness are not clear. In recent years, the study of hereditary deafness associated mouse models has revealed the molecular basis which is related with the formation and function of the hair bundle and the mechanosensory organelle of hair cell. This review focused on the role of protein network, which is formed by the proteins encoded by the Usher syndrome type 1 genes, in hair-bundle development and mechanotransducer channel gating. And the review also showed how the stereocilia rootlets contribute to the hair bundle's mechanical properties and how the hair bundle produces suppressive masking. Finally, the review revealed multiple roles of the tectorial membrane and extracellular matrix in the hair bundles stimulating in the cochlea.

[Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province].

Mitochondrial DNA (mtDNA) mutations are one of the important causes of deafness. In particular, the 12S rRNA gene is the hot spots for mutations associated with both aminoglycoside ototoxicity and nonsyndromic deafness. In this report, a total of 318 Chinese pediatric hearing-impaired subjects were recruited from otology clinics in the Zhejiang Province, China. These subjects underwent clinical, genetic evaluation and molecular analysis of 12S rRNA gene. Mutational analysis identified 34 variants in the 12S rRNA gene in this cohort. The incidences of the known deafness-associated 1555A>G, 1494C>T and 1095T>C mutations were 9.1%, 0.6% and 1.25% in this cohort, respectively. Other mtDNA variants were evaluated by structural and phylogenetic analysis. Of these, the 839A>G and 1452T>C variants could confer increased sensitivity to aminoglycosides or nonsyndromic deafness as they were not present in 449 Chinese controls and localized at highly conserved nucleotides of the 12S rRNA. However, other variants appeared to be polymorphisms. These data further support the idea that mitochondrial 12S rRNA is one of major targets for aminoglycoside ototoxicity. These data have been providing valuable information to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside antibiotic therapy, and eventually to decrease the incidence of deafness.

[Mitochondrial 12S rRNA variants studies in 456 subjects with hearing loss in seven schools for deaf and mutes in Zhejiang province].

OBJECTIVE: To investigate mutational spectrum and frequency of the mitochondrial 12S rRNA gene in Chinese subjects with aminoglycoside-induced and non-syndromic hearing loss. METHODS: Total of 456 subjects with non-syndromic hearing loss were recruited from seven schools for deaf-mutes in Zhejiang province. Genomic DNA was extracted from the whole blood, and then the DNA fragment was amplified spanning the 12S rRNA gene, followed by sequencing and analyzed. RESULTS: Thirty-one variants were identified by mutation analysis of 12S rRNA gene in these subjects. The frequency of the known 1555A > G mutation was 4.4% (20/456). Prevalence of other putative deafness-associated mutation at positions 961 and 1095 were 2.0% (9/456) and 0.7% (3/456) respectively. Furthermore, the 1027A > G, 1109T > C and 1431G > A variants conferred increased sensitivity to ototoxic drugs or non-syndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this 12S rRNA gene. Moreover, clinical data showed a wide range of age-of-onset, variety of severity and various audiometric configurations in subjects carrying the 1555A > G mutation. CONCLUSIONS: Our data demonstrated that the mitochondrial 12S rRNA gene is the hot spot for mutations associated with aminoglycoside ototoxicity and non-syndromic hearing loss. Nuclear modifier genes, mitochondrial haplotypes and environmental factors might play a role in the phenotypic manifestation of these mutations.