Speech Outcomes in 5-Year-Old Korean Children with Bilateral Cleft Lip and Palate.

Background Among the cleft types, bilateral cleft lip and palate (BCLP) generally requires multiple surgical procedures and extended speech therapy to achieve normal speech development. This study aimed to describe speech outcomes in 5-year-old Korean children with BCLP and examine whether normal speech could be achieved before starting school. Methods The retrospective study analyzed 52 children with complete BCLP who underwent primary palatal surgery at a tertiary medical center. Three speech-language pathologists made perceptual judgments on recordings from a speech follow-up assessment of 5-year-old children. They assessed the children's speech in terms of articulation, speech intelligibility, resonance, and voice using the Cleft Audit Protocol for Speech-Augmented-Korean Modification. Results The results indicated that at the age of five, 65 to 70% of children with BCLP presented articulation and resonance within normal or acceptable ranges. Further, seven children with BCLP (13.5%) needed both additional speech therapy and palatal surgery for persistent velopharyngeal insufficiency and speech problems even at the age of five. Conclusion This study confirmed that routine follow-up speech assessments are essential as a substantial number of children with BCLP require secondary surgical procedures and extended speech therapy to achieve normal speech development.

The Image Quality and Diagnostic Performance of CT with Low-Concentration Iodine Contrast (240 mg Iodine/mL) for the Abdominal Organs.

Purpose: To evaluate the difference between CT examinations using 240 mgI/mL contrast material (CM) and 320 mgI/mL CM in the contrast enhancement of the abdominal organs and the diagnostic performance for focal hepatic lesions. Materials and methods: This retrospective study included 422 CT examinations, using 240 mgI/mL iohexol (Group A, 206 examinations) and 320 mgI/mL ioversol (Group B, 216 examinations), performed between April 2019 and May 2020. Two CT scanners (single-source CT (machine A) and dual-source CT (machine B)) were used to obtain CT images. Two radiologists independently drew regions of interest (ROIs) in the liver, pancreas, spleen, kidney, aorta, portal vein, and paraspinal muscle. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated for each organ. They evaluated the degree of subjective enhancement of the organs and detected/differentiated focal hepatic lesions. Results: The SNR, CNR, and subjective enhancement of most organs were significantly higher in Group B than in Group A (p < 0.05). The sensitivity and specificity for cysts and malignancy were higher than 85.0% in both groups. The sensitivity for hemangioma was lower in Group B (<75%) than in Group A. In Group A, the SNR and CNR were significantly higher in most organs with machine B than with machine A. Conclusion: Although the SNR and CNR of the abdominal organs were lower with 240 mgI/mL CM than with 320 mgI/mL CM, 240 mgI/mL CM was feasible for evaluating the liver. A CT scanner with more advanced specifications may be beneficial for examinations with 240 mgI/mL CM by using lower tube voltage.

Emerging Role of Consolidative Radiotherapy After Complete Remission Following R-CHOP Immunochemotherapy in Stage III-IV Diffuse Large B-Cell Lymphoma: A Single Institutional and Case-Matched Control Study.

PURPOSE: The role of consolidative radiotherapy (RT) after complete-remission (CR) following rituximab combined with cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) in advanced-stage diffuse large B-cell lymphoma (DLBCL) remains unclear. We retrospectively analyzed the survival outcomes and patterns of failure with our institutional experience. MATERIAL AND METHODS: Between 2009 and 2018, 206 patients with stage III-IV DLBCL achieved CR after receiving R-CHOP. Propensity-score matching was used to analyze the role of consolidative RT. The consolidative RT group (n = 34) and the R-CHOP alone group (n = 68) were matched at a 1:2 ratio. After propensity-score matching, 102 patients were analyzed. RESULTS: With a median follow-up of 39.7 months, 26 patients (25.5%) showed local recurrence. Only one patient failed at the previous RT field. RT was delivered to bulky sites, head and neck lesions, testes, and bone with median dose of 30.6 Gy. The most common site of failure was head and neck lesions followed by bulky sites. The 5-year overall survival (OS), progression-free survival (PFS), and isolated-local recurrence free survival (LRFS) were 73.5, 64.0, and 79.9%. In univariate and multivariate analysis, bone marrow involvement and consolidative RT were associated with isolated LRFS (p = 0.006 and 0.032) significantly. CONCLUSION: Consolidative RT improved isolated local control. Based on the pattern of failure, we carefully suggest to radiate on initially involved bulky sites or head and neck lesions. Further studies need to be done to find out the optimal radiation dose and selection of RT site.

Satisfaction Survey of Patients and Medical Staff for Telephone-Based Telemedicine During Hospital Closing Due to COVID-19 Transmission.

Introduction: Telephone-based telemedicine was temporarily permitted in Korea during the COVID-19 pandemic. The purpose of this study was to assess satisfaction with the telemedicine done during temporary hospital closing when in-person visits were not allowed due to in-hospital COVID-19 transmission. Methods: Survey questionnaires partially taken from a telehealth usability questionnaire (TUQ) were sent to 6,840 patients who used telephone-based telemedicine from February 24 to March 7, 2020. Questionnaires sent to patients and additionally created questionnaires to evaluate telemedicine were sent to medical staff (182 doctors and 138 nurses). Results: Response rates of patients and medical staff were 13.2% and 17.2%, respectively. Patients' satisfaction with telemedicine was significantly greater than medical staff's satisfaction for all five components taken from TUQ (all p = 0.000). In addition, created questionnaires showed good reliability, obtaining similar results between doctors and nurses (all p > 0.05). More than 85% of medical staff replied that telemedicine was needed in COVID-19, whereas more than 80% of them worried about incomplete assessment and communication of medical condition. Overall satisfaction with telemedicine by medical staff was 49.7%. The strength of telephone-based telemedicine was patients' convenience (53.4%). However, incomplete assessment of patients' condition (55.0%) was its weakness. Conclusion: Satisfaction with telephone-based telemedicine by patients was significantly greater than that by medical staff (doctors and nurses). Negative views for safety and inconvenience resulted in a greater proportion of dissatisfaction among medical staff. For safe application of telemedicine, medical staff insisted that developing a platform and creating guidelines should be needed.

FDG PET/CT Findings of Castleman Disease Assessed by Histologic Subtypes and Compared with Laboratory Findings.

Castleman disease (CD) is a relatively rare lymphoproliferative disorder and the pathophysiology of the subtypes are incompletely understood. Fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) demonstrates the metabolic activity of inflammatory and tumorous conditions. The FDG uptake intensity and sites of involved lesions on FDG PET/CT were assessed by histologic subtypes, and compared to the patient's hemoglobin, platelet, albumin, and high-sensitivity C-reactive protein (hs-CRP) levels. In total, 60 PET/CT images of 44 consecutive CD patients were included: 4 (9%) unicentric and 40 (91%) multicentric; 21 (48%) hyaline vascular subtype, 16 (36%) plasma cell, and 7 (16%) mixed or unclassified. The maximum standardized uptake value (SUVmax) and tumor-to-liver (T/L) ratio of involved lymph nodes (LNs) were 5.3 ± 2.4 (range, 1.6-11.5) and 2.8 ± 1.6 (range, 1.1-9.6), respectively, with no significant difference between the histologic subtypes. Higher number of involved LN stations and presence of extra-nodal involvement on FDG PET/CT were associated with thrombocytopenia, hypoalbuminemia, and elevated hs-CRP levels (p values < 0.05). FDG-avidity was not different by histologic subtypes and did not correlate with laboratory findings. However, the extent of nodal and extra-nodal involvement as noted on FDG PET/CT was significantly associated with abnormal laboratory findings in patients with CD.

Early Interim Chemotherapy Response Evaluation by F-18 FDG PET/CT in Diffuse Large B Cell Lymphoma.

Fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) after one cycle of standard chemotherapy in patients with diffuse large B cell lymphoma (DLBCL) was assessed. Prospectively enrolled 51 patients had four PET/CT studies using the same protocol and system: at baseline and after one, three, and six cycles of chemotherapy (PET0, PET1, PET3, PET6). The PET1 and PET6 Deauville five-point score (D5PS) agreed in 60.8%, while PET3 and PET6 D5PS agreed in 90.2%. The absolute and percent changes of peak standard uptake value corrected for lean body mass (SULpeak) compared to baseline were significantly different between PET1 and PET3 (p = 0.001, p < 0.001) and PET1 and PET6 (p = 0.002, p = 0.001), but not between PET3 and PET6 (p = 0.276, p = 0.181). The absolute SULpeak from PET1 predicted treatment failure with accuracy of 78.4% (area under the curve 0.73, p = 0.023). D5PS, SULpeak, and metabolic tumor volume (MTV) were not statistically different between responders versus non-responders, or the one year disease-free versus relapse groups. D5PS and PERCIST responses showed 100% agreement at end-of-therapy. In conclusion, the responses after three and six cycles of therapy showed high degree of agreement. D5PS or MTV after one cycle of chemotherapy could not predict response or one-year disease-free status, but the SULpeak from PET1 was associated with response to first line therapy in DLBCL. Deauville and PERCIST criteria show high concordance.

Analysis of the response time to involved-field radiotherapy in primary gastrointestinal low-grade B-cell lymphoma.

BACKGROUND: Early-stage primary gastrointestinal (GI) low-grade B-cell lymphoma shows good therapeutic response to primary radiotherapy. However, there is no clear guideline for the evaluation of response to radiation therapy currently. The aim of this study was to analyze the relationship between the best response time and the clinical course after radiotherapy. METHODS: Patients who underwent radiotherapy for treatment of primary GI low-grade B-cell lymphoma from September 2007 to December 2018 at Seoul St. Mary's Hospital were included. Early responders were defined by best response within 6 months after radiotherapy, and delayed responders after 6 months. Clinical and pathological factors associated with delayed response and survival analyses were performed to investigate the recurrence and survival during follow-up. RESULTS: A total of 43 patients were evaluated and the number of gastric mucosa-associated lymphoid tissue and duodenal follicular lymphoma was 36 and 7, respectively. All of 43 patients showed complete remission to radiotherapy and the best response time after radiotherapy was a median of 3 months. There were 8 delayed responders with a median duration of 8.9 months. Early and delayed responders were characterized by a significant difference in depth of invasion beyond the mucosal layer. CONCLUSIONS: Delayed responders did not show differences in oncological outcomes compared with early responders. They were allowed to watch and wait for an additional 6 to 12 months without further treatment.

Pattern of failure and optimal treatment strategy for primary gastric diffuse large B-cell lymphoma treated with R-CHOP chemotherapy.

PURPOSE: The optimal treatment for primary gastric diffuse large B-cell lymphoma (PG-DLBCL) is still unknown. We evaluated unfavorable prognostic factors and pattern of failure in PG-DLBCL to determine the optimal treatment strategy. METHODS: Between April 2001 and November 2018, 120 patients with complete remission following rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP) chemotherapy were retrospectively reviewed. According to the Lugano staging system, 80 patients (66.7%) had localized disease and 40 patients (33.3%) had advanced disease. A total of 93 (77.5%) patients had single gastric lesion and 27 (22.5%) patients had multiple gastric lesions. Ninety patients (75%) were treated with R-CHOP chemotherapy alone and 30 patients (25%) received R-CHOP chemotherapy with additional local treatment for gastric lesions. RESULTS: The 5-year locoregional failure-free survival (LRFS), progression-free survival (PFS), and overall survival (OS) rates in patients treated with R-CHOP chemotherapy with local treatment were 100%, 100%, and 100%, respectively, whereas the LRFS, PFS, and OS rates in patients treated with R-CHOP chemotherapy alone were 86.3%, 78.2%, and 87.4%, respectively (p = 0.031, p = 0.095, and p = 0.025, respectively). During the follow-up period, 17 patients (14.2%) had disease recurrence. Only 3 of the 17 patients had relapse in a completely new site without relapse in the initial involved site. All, except 2, cases of local recurrence included gastric failure. In the multivariate analysis, performance status and number of gastric lesions were independent prognostic factors for treatment outcome. CONCLUSIONS: Patients with complete remission following R-CHOP chemotherapy showed a good prognosis. The main pattern of failure in patients with PG-DLBCL was local recurrence, especially in the stomach. Patients who received local treatment for gastric lesions showed improved gastric control. Therefore, in patients with unfavorable prognostic factors, we recommend R-CHOP chemotherapy with additional local treatment for gastric lesions.

Role of F-18 FDG PET/CT in non-conjunctival origin ocular adnexal mucosa-associated lymphoid tissue (MALT) lymphomas.

BACKGROUND: Despite the widespread use of F-18 fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) in the diagnosis and response assessment of patients with lymphoma, few studies have assessed its value in ocular adnexal lymphomas. The purpose of this study was to evaluate the role of FDG PET/CT in staging of non-conjunctival origin ocular adnexal mucosa-associated lymphoid tissue (MALT) lymphomas (OAML). In addition, the diagnostic sensitivity of FDG PET/CT was compared with magnetic resonance imaging (MRI). FDG PET/CT of 123 consecutive patients with pathologically proven OAML between January 2009 and February 2016 were retrospectively reviewed. The patients with MALT lymphoma originating from conjunctiva were excluded. A total 50 patients with non-conjunctival origin OAML were assessed. Maximum standardized uptake value (SUVmax) and additional PET parameters were measured for all lesions. Sensitivity for primary tumor detection was compared with MRI. RESULTS: Ten patients had bilateral OAML and total 60 OAML lesions were analyzed. MRI was missing in one patient. The tumor locations were as follows: eyelid, 9; lacrimal gland, 18; orbit, 33. Fifty lesions (83.3%) were FDG-avid tumors with mean ± SD SUVmax 4.8 ± 2.4 (range 2.0~11.1). The mean SUVmax according to tumor location were as follows: eyelid, 3.7 ± 1.1 (2.8~5.3); lacrimal gland, 3.6 ± 1.4 (2.1~6.4); orbit, 5.7 ± 2.6 (2.0~11.1). Mean SUVmax among the 3 locations were statistically different (P = 0.010). The sensitivity was calculated as 83.1% (49/59) for FDG PET/CT and 89.8% (53/59) for MRI, which were statistically comparable (P = 0.219 by McNemar's test). Seven of 50 patients (14%) were upstaged by detection of extraocular lesions by FDG PET/CT (1 kidney and lung, 1 tonsil, 4 cervical LNs, 1 sacral foramen). CONCLUSION: 83.3% of the non-conjunctival origin OAML were FDG-avid tumors, with FDG PET/CT showing comparable sensitivity to that of MRI. FDG PET/CT detected unsuspected extraocular lymphoma involvement in 14% of the patients. FDG PET/CT performed for staging of non-conjunctival origin OAML may thus guide therapeutic management.

Effect of vowel context on test-retest nasalance score variability in children with and without cleft palate.

OBJECTIVE: The purpose of this study was to determine whether test-retest nasalance score variability differs between Korean children with and without cleft palate (CP) and vowel context influences variability in nasalance score. PARTICIPANTS: Thirty-four 3-to-5-year-old children with and without CP participated in the study. METHODS: Three 8-syllable speech stimuli devoid of nasal consonants were used for data collection. Each stimulus was loaded with high, low, or mixed vowels, respectively. All participants were asked to repeat the speech stimuli twice after the examiner, and an immediate test-retest nasalance score was assessed with no headgear change. RESULTS: Children with CP exhibited significantly greater absolute difference in nasalance scores than children without CP. Variability in nasalance scores was significantly different for the vowel context, and the high vowel sentence showed a significantly larger difference in nasalance scores than the low vowel sentence. The cumulative frequencies indicated that, for children with CP in the high vowel sentence, only 8 of 17 (47%) repeated nasalance scores were within 5 points. CONCLUSIONS: Test-retest nasalance score variability was greater for children with CP than children without CP, and there was greater variability for the high vowel sentence(s) for both groups.

Comparison of Selection and Long-term Clinical Outcomes Between Chemotherapy and Radiotherapy as Primary Therapeutic Modality for Ocular Adnexal MALT Lymphoma.

BACKGROUND: The choice of a primary treatment for ocular adnexal mucosa-associated lymphoid tissue lymphoma (OAML) depends on the extent of tumor spread. However, radiotherapy is commonly used as a first-line therapy despite ophthalmic complications, because most OAMLs are in a limited stage of progression. However, the initial therapeutic modality, including chemotherapy and treatment of the advanced stage, has not been fully established for OAML. Therefore, we evaluated the optimal therapeutic options and survival outcome-related parameters for patients with primary OAML. METHODS: We evaluated 208 consecutive patients with primary OAML who were diagnosed at the Catholic University Lymphoma Group between January 2004 and April 2015. FINDINGS: During a median follow-up of 70.0 months (range, 3.2-182.0 months) in 208 patients with primary OAML, most patients were female and the median age was 46 years old. Overall survival (OS) and progression-free survival (PFS) at 13 years were excellent (92.7% and 69.7%, respectively). Of the 117 patients who received the first-line radiotherapy, 92% achieved complete remission (CR), usually by being treated with less than 30 Gy. Radiation-related ophthalmic complications including dry eye syndrome (59%) and cataract (22%) caused a decline in the quality of life (QoL). Chemotherapy alone was used to treat 86 OAML patients, with 84.9% achieving CR and 12.8% achieving partial remission with tolerable toxicities. There were no differences in survival outcomes between patients treated with radiotherapy versus those treated with rituximab-containing chemotherapy, although the latter group had more advanced stages of OAML (OS, p = 0.057; PFS, p = 0.075). INTERPRETATION: OAML patients were predominantly female and relatively young, and radiotherapy as a primary therapeutic option was more likely to lead to radiation-related complications, resulting in lower QoL. On the other hand, frontline chemotherapy showed consistent therapeutic outcomes with tolerable toxicities compared to radiotherapy, and there were no long-term or delayed adverse events. Therefore, when considering therapeutic efficacy and therapy-related QoL, chemotherapy is recommended for younger patients, and radiotherapy is recommended for older and chemotherapy-ineligible patients. FUNDING: A National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIP) (No. NRF-2016R1A2B4007282).

Clinical Outcomes of Primary Palatal Surgery in Children with Nonsyndromic Cleft Palate with and without Lip.

This study presents clinical outcomes of primary cleft palate surgery, including rate of oronasal fistula development, rate of velopharyngeal insufficiency (VPI) requiring secondary surgery, and speech outcomes. We examined the effect of cleft type on the clinical outcomes. Retrospective analysis was performed using clinical records of all patients who received a primary palatoplasty at the Cleft Palate Clinic at Seoul Asan Medical Center, South Korea, between 2007 and 2012. The study included 292 patients with nonsyndromic overt cleft palate (± cleft lip). The results revealed that the rate of oronasal fistula was 7.9% and the incidence of VPI based on the rate of secondary palatal surgery was 19.2%. The results showed that 50.3% of all the patients had received speech therapy and 28.8% and 51.4% demonstrated significant hypernasality and articulatory deficits, respectively. The results of the rate of VPI and speech outcomes were significantly different in terms of cleft type. Except for the rate of oronasal fistula, patients with cleft palate generally exhibited better clinical outcomes compared to those with bilateral or unilateral cleft lip and palate. This study suggests that several factors, including cleft type, should be identified and comprehensively considered to establish an optimal treatment regimen for patients with cleft palate.

Suggestion of response evaluation criteria in patients with ocular adnexal mucosa-associated lymphoid tissue lymphoma (OAML).

Ocular adnexal mucosa-associated lymphoid tissue lymphoma (OAML) has been recognized as most common primary orbital malignancy. However, little was known about the response criteria for OAML. Our aim was to suggest response criteria for nonconjunctival OAML; the response evaluation of which using the conventional response criteria is inappropriate. A retrospective chart review of 34 eyes from 30 patients diagnosed with nonconjunctival OAML was conducted, focusing on the change in tumor size based on linear bi-dimensional and three-dimensional methods in magnetic resonance imaging (MRI) of the orbit. The maximum tumor response period of each case was investigated, and the expected optimal response period was calculated using regression analysis. In 30 evaluable patients, the median time taken for the maximum tumor response was 6 months (range, 3-18). More than 75 % of patients attained maximal tumor response in 6 months after initial therapy for follow-up period, the median value of which was 30 months (range, 15-77). Based on the regression analysis, it took 4.7 months for the maximum diameter (2r) of tumor to decrease by 50 % of initial lesion size. We cautiously suggest that optimal response could be defined as 50 % reduction of the maximum diameter in 6 months since the treatment was initiated, and that only observation without additional therapy is enough for nonconjunctival OAML, if optimal response is achieved.

Ophthalmologic outcomes after chemotherapy and/or radiotherapy in non-conjunctival ocular adnexal MALT lymphoma.

In the present study, we evaluated the ophthalmologic outcomes of 24 patients who received chemotherapy and/or radiotherapy for the treatment of non-conjunctival ocular adnexal mucosa-associated lymphoid tissue-type (MALT) lymphoma. Ophthalmologic outcomes were assessed in patients who received chemotherapy and/or radiotherapy from March 2004 until May 2010. Outcomes were determined according to common symptoms following chemotherapy and/or radiotherapy, which consisted of decreased visual acuity, dry eye symptoms, retinopathy, optic neuropathy, increased intraocular pressure, and blepharitis. Nine patients received chemotherapy alone, eight patients received radiotherapy alone, and seven patients received chemotherapy with additional radiotherapy (chemoradiation therapy). Patients treated by chemotherapy alone showed better ophthalmologic outcome scores (mean score, 1.56) than those treated by radiation alone or chemoradiation therapy (mean score, 4.01). In conclusion, the treatment of ocular adnexal lymphoma including radiotherapy showed poor ophthalmologic outcomes due to radiation-induced complications. Recently, many new treatment options have emerged, such as immunotherapy or radioimmunotherapy. In the future study, to select a better treatment modality with fewer complications, well-designed prospective trials with ophthalmologic outcomes are needed.

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects without any other nonoral symptoms. Recently, a disease-causing nonsense mutation (c.406C>T) in a novel gene, FAM20A, was identified in a large consanguineous family affected by AI with gingival hyperplasia. We performed mutational analyses on nine AI families with similar phenotypes and identified three homozygous mutations (c.34_35delCT, c.813-2A>G, c.1175_1179delGGCTC) in three families and a compound heterozygous mutation (c.[590-2A>G] + [c.826C>T]) in one family. An in vitro splicing assay with a minigene confirmed the mutations located in the splicing acceptor site caused the deletion of exons 3 and 6, respectively. Taking into consideration the locations of the nonsense and frameshift mutations, the mutant transcripts are most likely degraded by nonsense-mediated mRNA degradation and it results in a loss of the FAM20A protein. This study confirms the importance of the FAM20A protein in enamel biomineralization as well as tooth eruption.

Feasibility of the TNM-based staging system of ocular adnexal extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma).

The American Joint Committee on Cancer has proposed the tumor, node, metastasis (TNM) staging system to overcome the limitations of the Ann Arbor staging system for ocular adnexal lymphoma. We performed this study to evaluate the feasibility of the TNM staging system for ocular adnexal extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (OAML). The data form 66 total eyes from 54 patients with biopsy-confirmed OAML according to World Health Organization classification were retrospectively analyzed. Using the TNM staging system, we reclassified all patients into two categories: (1) T1N0M0 stage group (n = 26), for patients with lymphoma involving only the conjunctiva; and (2) above T1N0M0 or bT1N0M0 stage group (n = 28), for patients with lymphoma extending to the orbit, eyelid, or adjacent structures, and/or bilateral OAML. After a 24-month median follow-up period for all patients, the T1N0M0 group revealed higher progression-free survival (PFS) than the above T1N0M0 or the bT1N0M0 group (P = 0.041). In a separate analysis of only 50 patients categorized as Ann Arbor stage IE, the T1N0M0 group demonstrated higher PFS (100%) than the above T1N0M0 or the bT1N0M0 group (84.7%; P = 0.067). Our data show that the poor prognostic group classified as Ann Arbor stage IE can be further distinguished by using the TNM staging system. Thus, further studies to develop treatment strategies for reducing relapse after treatment for OAML should use the TNM staging system.

A novel mutation in the AMELX gene and multiple crown resorptions.

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders with regard to genetic aetiology and clinical phenotype and affects tooth enamel with no other non-oral syndromic conditions. X-linked AI is caused by mutations in the amelogenin (AMELX) gene, the only AI candidate gene located on the X chromosome. To date, 15 mutations in the AMELX gene have been found to cause AI. We identified a proband with generalized hypoplastic enamel and unusual multiple crown resorption in premolars and molars. Pedigree analysis suggested an X-linked hereditary pattern. We performed mutational analysis for the AMELX gene based on the candidate gene approach. Sequencing analysis revealed a novel mutation in exon 6 (g.4090delC, c.517delC, p.Pro173LeufsX16). This frameshift mutation produces a premature stop codon within exon 6 and is predicted to replace 33 amino acids at the C-terminus with 15 novel amino acids if the mutant mRNA escapes the nonsense-mediated decay system. Although crown resorptions occur frequently in patients with the hypoplastic type of A1, an association with the AMELX mutation has not been previously reported. We believe that these findings will broaden our understanding of the clinical phenotype and pathogenesis of X-linked AI.

Multilaboratory assessment of variations in spectrophotometry-based DNA quantity and purity indexes.

Human genetic studies are using an increasing number of biobanked DNA samples, which require consistent measurements of DNA quantity and purity between multicenters or multilaboratories. In an attempt to standardize DNA quantitation protocols, a DNA quantitation project was performed, in which 16 technicians from 11 laboratories participated in measuring optical density (A260, A280, A230) of multiple DNA samples (N = 35) of known concentrations. We analyzed variations in the measurement of DNA quantity and purity and found that the mean interoperator coefficients of variation percentage for A260, A260/A280, and A260/A230 values among individuals were 21.9%, 7.4%, and 24.7%, respectively. In contrast, the mean intra-operator coefficients of variation percentage for A260, A260/A280, and A260/A230 values were 9.9%, 1.7%, and 8.3%, respectively. The variability in A260/A230 determination was much more sensitive to the method of DNA quantitation and the technical skill of the individual than those of A260 and A260/A280. In addition, a concentration of DNA of >100 ng/µL was found to reduce the variability of DNA quantity (A260) and purity (A260/A280 and A260/A230 ratios) indexes. This work emphasizes the need for standardization of DNA quantitation protocols for multicenter DNA work, as well as the importance of training and education of technicians at these centers.

The measurement of opening angle and orifice area of a bileaflet mechanical valve using multidetector computed tomography.

BACKGROUND AND OBJECTIVES: The aim of this study was to assess mechanical valve function using 64-slice multidetector computed tomography (MDCT). SUBJECTS AND METHODS: In 20 patients (mean age, 50+/-12 years; male-to-female ratio, 10:10), 30 St. Jude bileaflet mechanical valves (15 aortic and 15 mitral valves) were evaluated using MDCT. We selected images vertical and parallel to the mechanical valve. The valve orifice area (OA) and valve length were determined by manual tracing and the opening and closing angles were measured using a protractor. The OA and length of the mechanical valves were compared with the manufacturer's values. RESULTS: The geometric orifice areas (GOAs) based on the manufacturer's values and the OAs determined by MDCT were 3.4+/-0.2 cm(2) and 3.4+/-0.3 cm(2) for the mitral valves and 2.1+/-0.3 cm(2) and 2.1+/-0.4 cm(2) for the aortic valves, respectively. The correlation coefficients between the OA measures were 0.433 for the mitral valves and 0.874 for the aortic valves (both p<0.001). The lengths based on the manufacturer's values and determined by MDCT were 29.3+/-1.99 mm and 29.6+/-1.65 mm for the mitral valves and 21.5+/-2.1 mm and 20.7+/-2.3 mm for the aortic valves, respectively. The correlation coefficients between the measures were 0.651 for the mitral valve and 0.846 for the aortic valve (both p<0.001). The opening and closing angles determined by MDCT were 10.9+/-0.6 degrees and 131.1+/-3.2 degrees for the mitral valves and 11.1+/-0.9 degrees and 120.6+/-1.7 degrees for the aortic valves, respectively. CONCLUSION: MDCT is an accurate modality with which to assess the function and morphology of bileaflet mechanical valves.