FDA-approved deep learning software application versus radiologists with different levels of expertise: detection of intracranial hemorrhage in a retrospective single-center study.

PURPOSE: To assess an FDA-approved and CE-certified deep learning (DL) software application compared to the performance of human radiologists in detecting intracranial hemorrhages (ICH). METHODS: Within a 20-week trial from January to May 2020, 2210 adult non-contrast head CT scans were performed in a single center and automatically analyzed by an artificial intelligence (AI) solution with workflow integration. After excluding 22 scans due to severe motion artifacts, images were retrospectively assessed for the presence of ICHs by a second-year resident and a certified radiologist under simulated time pressure. Disagreements were resolved by a subspecialized neuroradiologist serving as the reference standard. We calculated interrater agreement and diagnostic performance parameters, including the Breslow-Day and Cochran-Mantel-Haenszel tests. RESULTS: An ICH was present in 214 out of 2188 scans. The interrater agreement between the resident and the certified radiologist was very high (κ = 0.89) and even higher (κ = 0.93) between the resident and the reference standard. The software has delivered 64 false-positive and 68 false-negative results giving an overall sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of 68.2%, 96.8%, 69.5%, 96.6%, and 94.0%, respectively. Corresponding values for the resident were 94.9%, 99.2%, 93.1%, 99.4%, and 98.8%. The accuracy of the DL application was inferior (p < 0.001) to that of both the resident and the certified neuroradiologist. CONCLUSION: A resident under time pressure outperformed an FDA-approved DL program in detecting ICH in CT scans. Our results underline the importance of thoughtful workflow integration and post-approval validation of AI applications in various clinical environments.

Continuous Multidisciplinary Care for Patients With Orofacial Clefts-Should the Follow-up Interval Depend on the Cleft Entity?

OBJECTIVE: The multidisciplinary follow-up of patients with cleft lip with or without palate (CL/P) is organized differently in specialized centers worldwide. The aim of this study was to evaluate the different treatment needs of patients with different manifestations of CL/P and to potentially adapt the frequency and timing of checkup examinations accordingly. DESIGN: We retrospectively analyzed the data of all patients attending the CL/P consultation hour at a tertiary care center between June 2005 and August 2020 (n = 1126). We defined 3 groups of cleft entities: (1) isolated clefts of lip or lip and alveolus (CL/A), (2) isolated clefts of the hard and/or soft palate, and (3) complete clefts of lip, alveolus and palate (CLP). Timing and type of therapy recommendations given by the specialists of different disciplines were analyzed for statistical differences. RESULTS: Patients with CLP made up the largest group (n = 537), followed by patients with cleft of the soft palate (n = 371) and CL ± A (n = 218). There were significant differences between the groups with regard to type and frequency of treatment recommendations. A therapy was recommended in a high proportion of examinations in all groups at all ages. CONCLUSION: Although there are differences between cleft entities, the treatment need of patients with orofacial clefts is generally high during the growth period. Patients with CL/A showed a similarly high treatment demand and should be monitored closely. A close follow-up for patients with diagnosis of CL/P is crucial and measures should be taken to increase participation in follow-up appointments.

Patients referred to a German TMD-specialized consultation hour-a retrospective on patients without a diagnosis according to RDC/TMD decision trees.

OBJECTIVES: The objective was to describe the physical and psychosocial features of patients attending a specialized consultation hour for temporomandibular disorders (TMD). This investigation focused on those patients who did not receive a diagnosis according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). MATERIALS AND METHODS: From 2004 to 2017, patients seeking care during a TMD-specialized consultation hour were consecutively recruited. Each patient completed a TMD-related questionnaire, psychosocial questionnaires (Graded Chronic Pain Scale, Hospital Anxiety and Depression Scale, Beschwerden-Liste), and the Oral Health Impact Profile-49. The clinical examination was performed according to the RDC/TMD. RESULTS: The mean age of the 1020 patients was 43.3 years (75.3% female). According to the RDC/TMD decision trees, 351 patients were categorized without a TMD diagnosis (NoTMDdx). The most frequent reasons for seeking care were orofacial pain/TMJ pain or headaches revealing an OR of 1.89 (for TMDdx group). A relevant proportion of patients was categorized as positive for anxiety (NoTMDdx/TMDdx 30.8/41.2%; p = 0.072), depression (20.8/23.9%; p = 0.433), non-specific physical symptoms (31.4/44.1%; p < 0.001), or dysfunctional chronic pain (11.5/18.2%; p < 0.001). In both patient groups, the oral health-related quality of life was impaired (42.9/52.7 points; p < 0.001), and the frequency of therapy measures prior to the consultation hour was high. CONCLUSIONS: Patients seeking care from TMD specialists were usually referred with TMD-associated symptoms. Of those, a relevant proportion did not receive a diagnosis according to RDC/TMD decision trees. CLINICAL RELEVANCE: Psychosocial screening and the avoidance of overtreatment are recommended for patients with TMD-related symptoms.

Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking.

Massive parallel sequencing technologies are promising a highly sensitive detection of low-level mutations, especially in mitochondrial DNA (mtDNA) studies. However, processes from DNA extraction and library construction to bioinformatic analysis include several varying tasks. Further, there is no validated recommendation for the comprehensive procedure. In this study, we examined potential pitfalls on the sequencing results based on two-person mtDNA mixtures. Therefore, we compared three DNA polymerases, six different variant callers in five mixtures between 50% and 0.5% variant allele frequencies generated with two different amplification protocols. In total, 48 samples were sequenced on Illumina MiSeq. Low-level variant calling at the 1% variant level and below was performed by comparing trimming and PCR duplicate removal as well as six different variant callers. The results indicate that sensitivity, specificity, and precision highly depend on the investigated polymerase but also vary based on the analysis tools. Our data highlight the advantage of prior standardization and validation of the individual laboratory setup with a DNA mixture model. Finally, we provide an artificial heteroplasmy benchmark dataset that can help improve somatic variant callers or pipelines, which may be of great interest for research related to cancer and aging.

Survival Rates of Dental Implants in Autogenous and Allogeneic Bone Blocks: A Systematic Review.

Background and Objectives: Preliminary studies emphasize the similar performance of autogenous bone blocks (AUBBs) and allogeneic bone blocks (ALBBs) in pre-implant surgery; however, most of these studies include limited subjects or hold a low level of evidence. The purpose of this review is to test the hypothesis of indifferent implant survival rates (ISRs) in AUBB and ALBB and determine the impact of various material-, surgery- and patient-related confounders and predictors. Materials and Methods: The national library of medicine (MEDLINE), Excerpta Medica database (EMBASE) and Cochrane Central Register of Controlled Trials (CENTRAL) were screened for studies reporting the ISRs of implants placed in AUBB and ALBB with ≥10 participants followed for ≥12 months from January 1995 to November 2021. The review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The risk of bias was assessed via several scoring tools, dependent on the study design. Means of sub-entities were presented as violin plots. Results: An electronic data search resulted in the identification of 9233 articles, of which 100 were included in the quantitative analysis. No significant difference (p = 0.54) was found between the ISR of AUBB (96.23 ± 5.27%; range: 75% to 100%; 2195 subjects, 6861 implants) and that of ALBB (97.66 ± 2.68%; range: 90.1% to 100%; 1202 subjects, 3434 implants). The ISR in AUBB was increased in blocks from intraoral as compared to extraoral donor sites (p = 0.0003), partially edentulous as compared to totally edentulous (p = 0.0002), as well as in patients younger than 45 as compared to those older (p = 0.044), cortical as compared to cortico-cancellous blocks (p = 0.005) and in delayed implantations within three months as compared to immediate implantations (p = 0.018). The ISR of ALBB was significantly increased in processed as compared to fresh-frozen ALBB (p = 0.004), but also in horizontal as compared to vertical augmentations (p = 0.009). Conclusions: The present findings widely emphasize the feasibility of achieving similar ISRs with AUBB and ALBB applied for pre-implant bone grafting. ISRs were negatively affected in sub-entities linked to more extensive augmentation procedures such as bone donor site and dentition status. The inclusion and pooling of literature with a low level of evidence, the absence of randomized controlled clinical trials (RCTs) comparing AUBB and ALBB and the limited count of comparative studies with short follow-ups increases the risk of bias and complicates data interpretation. Consequently, further long-term comparative studies are needed.

Ankle Brachial Index Predicts for Difficulties in Performing Microvascular Anastomosis.

PURPOSE: In reconstructive microsurgery, severe arteriosclerosis is a known predictor for free flap failure because of problems with the vascular anastomosis. We investigated whether the ankle brachial index (ABI) could be a suitable preoperative measurement for the prediction of compromise regarding vascular anastomosis in patients undergoing microsurgical reconstruction. MATERIAL AND METHODS: We conducted a prospective cohort study of patients who had undergone reconstructive microvascular surgery in a tertiary care center from 2015 to 2017. The ABI was preoperatively assessed by dividing the systolic blood pressure measured at the ankle by the brachial systolic blood pressure. Results from 0.9 to 1.3 are within the physiologic range. Values less than 0.9 indicate moderate to severe arteriosclerosis, and those greater than 1.3 indicate the major form of arteriosclerosis with complete calcification of the tunica media. The ABI value correlated with the ease of the anastomosis (rated from 1 [very straightforward] through 5 [very difficult]), gross examination findings (intraluminal plaque [yes vs no]), and the necessity of plaque removal before anastomosis (yes vs no). In addition, cross-sectional specimens were obtained from the arteries and veins of the donor and recipient sites intraoperatively. The specimens were rated histologically for the arteries and veins using an ordinal scale. Histologic evaluation was performed to confirm and objectify the results from the ABI. Statistical analysis was performed using SPSS software, version 24.0 (IBM Corp, Armonk, NY) and t tests, analysis of variance, and χ2 tests. RESULTS: The sample included 41 patients with a mean age of 56.7 years; 59% were men. The mean ABI was 1.06. The mean ease of anastomosis was 1.8. The mean ABI was associated with the ease of anastomosis. A pathologic ABI was significantly related to problems with the arterial anastomosis (P = .004) and increased arteriosclerosis in the arteries from the donor (P = .047) and recipient (P = .036) sites. CONCLUSIONS: A pathologic ABI was associated with increased difficulty with the microvascular anastomosis.

Flow Chart for Reconstructive Head and Neck Surgery in Composite Soft and Hard Tissue Defects.

INTRODUCTION: Virtual planning of reconstructive surgical procedures in patients with osseous and composite defects in the head and neck region is becoming increasingly a state of the art modality. However, computational algorithms lack the capability of planning the involved soft tissue and vascular pedicle position. The authors present a flow-chart to solve this problem in the reconstruction of defects of the upper and lower jaw. MATERIAL AND METHODS: Clinical records from 2013 to 2018 from a tertiary care center were screened for patients undergoing osseous reconstruction in the head and neck region. A flow-chart considering soft tissue positioning and the anatomical course of the vascular pedicle was assessed in consideration of the defect and donor-site. RESULTS: A total of 81 osseous and composite microvascular reconstructive procedures have been conducted. Defects of the lower jaw were the most common (n = 61). The free fibula flap was the most common reconstructive measure and showed a wide versatility of surgical options to reconstruct these defects. The flow charts were assessed accordingly in these procedures. CONCLUSION: Soft tissue and vascular pedicle positioning can be planned pre-operatively by the use of virtual planning and should be considered as an enhancement tool to the already existing computational algorithms of planning hard tissue reconstruction.

Hand Perfusion in Patients with Physiological or Pathological Allen's Tests.

BACKGROUND: The Allen test (AT) is a widely used clinical tool for the preoperative assessment of sufficient dual vessel hand perfusion although the impact of a pathological AT on tissue perfusion of the hand is not entirely clear. This study reveals perfusion changes of the hand in patients with pathological and physiological AT after terminating the dual blood supply. METHODS: Patients were distributed into 2 groups (physiological and pathological AT) that each contained 25 members. Perfusion of the thumb, middle, and small fingers was measured with a laser Doppler based ("oxygen-to-see" [O2C]) device. A steady state was measured and also values at 1, 3, 5, and 10 minutes after radial occlusion were measured. RESULTS: In patients with a physiological AT, only 1 out of 18 values differed significantly from the steady state measurements after 10 minutes, whereas patients with a pathological AT showed significant alterations in 8 out of 18 values. Oxygen saturation of the superficial and deep tissues appeared to be significantly worse in patients with a pathological AT. CONCLUSION: Patients with a pathological AT suffered significantly more from the loss of dual hand perfusion than patients with a physiological AT. Patients with a pathological AT need more time to compensate for the altered perfusion pattern.

Influence of a strictly perioperative antibiotic prophylaxis vs a prolonged postoperative prophylaxis on surgical site infections in maxillofacial surgery.

PURPOSE: The adequate perioperative antibiotic prophylaxis in maxillofacial surgery is still under discussion due to the wide range of hard and soft tissue procedures as well as contaminated, semi-contaminated and clean surgical sides. Perioperative antibiosis is an easy applicable tool that can be used to decrease nosocomial morbidity and mortality by reducing the rate of infections. We compared strictly perioperative antibiosis with an extended postoperative prophylactic antibiosis. MATERIALS AND METHODS: In this study, 901 consecutive patients, from a tertiary care maxillofacial surgery department were included and distributed into two groups: The first group received peri- and postoperative antibiotic prophylaxis (PP; n = 365) from the day of operation until the fifth day postoperatively. The second group was treated with single shot prophylaxis with intraoperative repetition as needed (SSP; n = 536) only. Furthermore, the patients were grouped according to their main diagnosis and surgical procedure. For comparison, general anamnestic data, cultured bacteria and resistances, number of surgical site infections and duration of hospitalization were compared. RESULTS: There were no statistically significant differences in general diseases or extent of surgery between the groups. There was no statistical difference in the surgical site infections between the groups regardless of their diagnosis. There were significant correlations between tracheotomised patients (p < 0.001) as well as patients with a higher BMI (p = 0.009) and the incidence of surgical site infections. Most common cultured bacteria were staphylococci. CONCLUSION: Based on the findings of the study, we believe that a perioperative antibiosis delivers a sufficient prophylaxis for patients undergoing maxillofacial surgery procedures.

Comparison of allogeneic and autogenous bone grafts for augmentation of alveolar ridge defects-A 12-month retrospective radiographic evaluation.

OBJECTIVES: The aim of this study was to compare three-dimensional alterations following the use of autogenous versus allogeneic onlay grafts for augmentation at single tooth defects. MATERIALS AND METHODS: Alveolar bone width at specific implant sites were assessed using sagittal and cross-sectional CBCT images prior grafting and at three subsequent time points. Twenty-one patients received autogenous bone blocks harvested from the retromolar region and another 21 patients received freeze-dried cancellous allogeneic bone blocks. RESULTS: The vertical and horizontal dimensions did not significantly differ between autogenous and allogeneic bone grafts at any time point. In addition, there were no statistically significant differences in graft remodeling rates between autogenous (mean shrinkage rate after 12 months: 12.5% ± 7.8%) and allogeneic onlay grafts (mean shrinkage rate after 12 months: 14.4% ± 9.8%). CONCLUSIONS: Freeze-dried cancellous allogeneic bone blocks showed equivalent volumetric shrinkage rates as autogenous bone blocks when used for treating circumscribed bone defects classified as Type-II to Type-IV according to the ITI-treatment guide categories. Therefore, it is not necessary to over-contour the alveolar ridge when using allogeneic blocks for treating single tooth defects, but to apply the same procedure as when using autogenous blocks.

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud.

Next generation sequencing (NGS) allows investigating mitochondrial DNA (mtDNA) characteristics such as heteroplasmy (i.e. intra-individual sequence variation) to a higher level of detail. While several pipelines for analyzing heteroplasmies exist, issues in usability, accuracy of results and interpreting final data limit their usage. Here we present mtDNA-Server, a scalable web server for the analysis of mtDNA studies of any size with a special focus on usability as well as reliable identification and quantification of heteroplasmic variants. The mtDNA-Server workflow includes parallel read alignment, heteroplasmy detection, artefact or contamination identification, variant annotation as well as several quality control metrics, often neglected in current mtDNA NGS studies. All computational steps are parallelized with Hadoop MapReduce and executed graphically with Cloudgene. We validated the underlying heteroplasmy and contamination detection model by generating four artificial sample mix-ups on two different NGS devices. Our evaluation data shows that mtDNA-Server detects heteroplasmies and artificial recombinations down to the 1% level with perfect specificity and outperforms existing approaches regarding sensitivity. mtDNA-Server is currently able to analyze the 1000G Phase 3 data (n = 2,504) in less than 5 h and is freely accessible at https://mtdna-server.uibk.ac.at.

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing.

Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters (haplogroups), which is of great relevance for evolutionary, forensic and medical genetics. With the extensive growth of the underlying phylogenetic tree summarizing the published mtDNA sequences, the manual process of haplogroup classification would be too time-consuming. The previously published classification tool HaploGrep provided an automatic way to address this issue. Here, we present the completely updated version HaploGrep 2 offering several advanced features, including a generic rule-based system for immediate quality control (QC). This allows detecting artificial recombinants and missing variants as well as annotating rare and phantom mutations. Furthermore, the handling of high-throughput data in form of VCF files is now directly supported. For data output, several graphical reports are generated in real time, such as a multiple sequence alignment format, a VCF format and extended haplogroup QC reports, all viewable directly within the application. In addition, HaploGrep 2 generates a publication-ready phylogenetic tree of all input samples encoded relative to the revised Cambridge Reference Sequence. Finally, new distance measures and optimizations of the algorithm increase accuracy and speed-up the application. HaploGrep 2 can be accessed freely and without any registration at http://haplogrep.uibk.ac.at.

Color duplex ultrasonography versus handheld Doppler to plan anterior lateral thigh flaps.

BACKGROUND: The anterior lateral thigh flap (ALT) has become increasingly important in reconstructive surgery in the head and neck region. To cope with the problem of anatomical variability in the supplying blood vessels, preoperative evaluation is desirable. Purpose of the study is to compare the most commonly used Doppler devices Handheld Doppler (HD) and Color Doppler Ultrasonography (CDU) for their clinical reliability. METHODS: Forty five consecutive head and neck cancer patients (mean age 66.0 ± 11.2 years) were included in the study. They all underwent a reconstruction via ALT flap for a defect in the head and neck area. Study period ranged from May 2014 to August 2015. We preoperatively conducted HD and CDU on the lateral thigh and compared the intraoperative findings by measuring presence of the perforator and distance to the estimated position. RESULTS: There were 95 perforators identified in 45 patients. The sensitivity and positive predictive value (PPV) were calculated as 97.9% and 100% for CDU and 90.5% and 80.4% for HD, respectively. Accuracy was significantly greater with the HD compared to the CDU device (P < 0.001) and was strongly associated with body mass index (BMI) (P < 0.001). This effect was stronger in HD than in CDU (r = 0.800; P < 0.001 versus r = 0.673; P < 0.001). CONCLUSIONS: Our results indicate CDU is more precise and reliable than HD with respect to detecting the anatomical position of perforating arteries. © 2017 Wiley Periodicals, Inc. Microsurgery 37:388-393, 2017.

Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar.

BACKGROUND: Myanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled by changing kingdoms and dynasties and lying on the trade route between India and China, Myanmar was influenced by numerous cultures. Since its independence from British occupation, tensions between the ruling Bamar and ethnic minorities increased. RESULTS: Our aim was to search for genetic footprints of Myanmar's geographic, historic and sociocultural characteristics and to contribute to the picture of human colonization by describing and dating of new mitochondrial DNA (mtDNA) haplogroups. Therefore, we sequenced the mtDNA control region of 327 unrelated donors and the complete mitochondrial genome of 44 selected individuals according to highest quality standards. CONCLUSION: Phylogenetic analyses of the entire mtDNA genomes uncovered eight new haplogroups and three unclassified basal M-lineages. The multi-ethnic population and the complex history of Myanmar were reflected in its mtDNA heterogeneity. Population genetic analyses of Burmese control region sequences combined with population data from neighboring countries revealed that the Myanmar haplogroup distribution showed a typical Southeast Asian pattern, but also Northeast Asian and Indian influences. The population structure of the extraordinarily diverse Bamar differed from that of the Karen people who displayed signs of genetic isolation. Migration analyses indicated a considerable genetic exchange with an overall positive migration balance from Myanmar to neighboring countries. Age estimates of the newly described haplogroups point to the existence of evolutionary windows where climatic and cultural changes gave rise to mitochondrial haplogroup diversification in Asia.

The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.

Since the determination in 1981 of the sequence of the human mitochondrial DNA (mtDNA) genome, the Cambridge Reference Sequence (CRS), has been used as the reference sequence to annotate mtDNA in molecular anthropology, forensic science and medical genetics. The CRS was eventually upgraded to the revised version (rCRS) in 1999. This reference sequence is a convenient device for recording mtDNA variation, although it has often been misunderstood as a wild-type (WT) or consensus sequence by medical geneticists. Recently, there has been a proposal to replace the rCRS with the so-called Reconstructed Sapiens Reference Sequence (RSRS). Even if it had been estimated accurately, the RSRS would be a cumbersome substitute for the rCRS, as the new proposal fuses--and thus confuses--the two distinct concepts of ancestral lineage and reference point for human mtDNA. Instead, we prefer to maintain the rCRS and to report mtDNA profiles by employing the hitherto predominant circumfix style. Tree diagrams could display mutations by using either the profile notation (in conventional short forms where appropriate) or in a root-upwards way with two suffixes indicating ancestral and derived nucleotides. This would guard against misunderstandings about reporting mtDNA variation. It is therefore neither necessary nor sensible to change the present reference sequence, the rCRS, in any way. The proposed switch to RSRS would inevitably lead to notational chaos, mistakes and misinterpretations.

Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients.

The genetic etiology of prostate cancer, the most common form of male cancer in western countries, is complex and the interplay of disease genes with environmental factors is far from being understood. Studies on somatic mitochondrial DNA (mtDNA) mutations have become an important aspect of cancer research because these mutations might have functional consequences and/or might serve as biosensors for tumor detection and progression. We sequenced the entire mitochondrial genome (16,569 bp) from 30 prospectively collected pairs of macrodissected cancerous and benign cells from prostate cancer patients and compared their genetic variability. Given recent concerns regarding the authenticity of newly discovered mtDNA mutations, we implemented a high-quality procedure for mtDNA whole-genome sequencing. In addition, the mitochondrial genes MT-CO2, MT-CO3, MT-ATP6, and MT-ND6 were sequenced in further 35 paired samples from prostate cancer patients. We identified a total of 41 somatic mutations in 22 out of 30 patients: the majority of these mutations have not previously been observed in the human phylogeny. The presence of somatic mutations in transfer RNAs (tRNAs) was found to be associated with elevated PSA levels (14.25 ± 5.44 versus 7.15 ± 4.32 ng/ml; p = 0.004). The level and degree of heteroplasmy increased with increasing tumor activity. In summary, somatic mutations in the mitochondrial genome are frequent events in prostate cancer. Mutations mapping to mitochondrial tRNAs, ribosomal RNAs, and protein coding genes might impair processes that occur within the mitochondrial compartment (e.g., transcription, RNA processing, and translation) and might finally affect oxidative phosphorylation.

Qualitative bone CT as a tool to assess vascularization in irradiated bone: an animal study.

OBJECTIVE: The purpose of this paper was to find a correlation between laser doppler flowmetry (LDF) and the bone mineral density quotient (BMDQ) to evaluate irradiated bone quality preoperatively. MATERIALS AND METHODS: Premolars and molars were extracted from six minipigs. After a three-month healing period, three animals received irradiation at a total dose of 24 Gy. Three months after irradiation, quantitative computed tomography was performed using a calibration bone phantom to determine the 120-position BMDQ in the alveolar bone. A drill template was created to define the exact location for measurement. LDF was then recorded after osteotomy of the residual alveolar ridge. The correlation between the BMDQ and LDF was investigated. RESULTS: There was a linear negative correlation between LDF and BMDQ in non-irradiated bone (r = -0.435, P = 0.001) and less pronounced also in irradiated bone (r = -0.309, P = 0.017). In both non-irradiated and irradiated bone, we found distinct differences between the maxilla and mandible with respect to BMDQ. However, a clear difference in mandibular and maxillary vascularity was only seen in non-irradiated bone. CONCLUSION: In non-irradiated bone, LDF and BMDQ were inversely correlated. In irradiated bone, the BMDQ alone is not an adequate preoperative tool for evaluating bone quality because it was not correlated with bone perfusion.

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

Recent studies demonstrated a strong influence of rare genetic variants on several lipid-related traits. However, their impact on free fatty acid (FFA) plasma concentrations, as well as the role of rare variants in a general population, has not yet been thoroughly addressed. The adipose triglyceride lipase (ATGL) is encoded by the PNPLA2 gene and catalyzes the rate-limiting step of lipolysis. It represents a prominent candidate gene affecting FFA concentrations. We therefore screened the full genomic region of ATGL for mutations in 1,473 randomly selected individuals from the SAPHIR (Salzburg Atherosclerosis Prevention program in subjects at High Individual Risk) Study using a combined Ecotilling and sequencing approach and functionally investigated all detected protein variants by in-vitro studies. We observed 55 novel mostly rare genetic variants in this general population sample. Biochemical evaluation of all non-synonymous variants demonstrated the presence of several mutated but mostly still functional ATGL alleles with largely varying residual lipolytic activity. About one-quarter (3 out of 13) of the investigated variants presented a marked decrease or total loss of catalytic function. Genetic association studies using both continuous and dichotomous approaches showed a shift towards lower plasma FFA concentrations for rare variant carriers and an accumulation of variants in the lower 10%-quantile of the FFA distribution. However, the generally rather small effects suggest either only a secondary role of rare ATGL variants on the FFA levels in the SAPHIR population or a recessive action of ATGL variants. In contrast to these rather small effects, we describe here also the first patient with "neutral lipid storage disease with myopathy" (NLSDM) with a point mutation in the catalytic dyad, but otherwise intact protein.

Is one-stage lateral sinus lift and implantation safe in severely atrophic maxillae? Results of a comparative pilot study.

PURPOSE: The aim of this retrospective comparative study was to evaluate the survival of dental implants placed in the posterior maxilla with a residual bone height less than 3 mm using a one-stage lateral sinus lifting approach. The research question was whether in very severely atrophied maxillary bones (residual height < 3 mm), a sinus lift with simultaneous implant placement would be associated with a higher complication rate compared to single-stage sinus lifts at average residual alveolar process heights. METHODS: Complications of 63 implants, where the residual bone height was below 3 mm, were compared to a reference group of 40 implants, which were inserted using a one-stage lateral sinus lift in maxillae with at least 3 mm residual bone height. Implant survival, bleeding-on-probing, the presence of peri-implant mucositis and the occurrence of peri-implantitis were documented. RESULTS: The mean follow-up time for implant survival was 80.3 ± 25.9 months. One implant out of 63 was lost in the severely atrophic maxilla group and two implants out of 40 were lost in the reference group. There were no differences in the occurrence of implant loss (p = 0.558), bleeding-on-probing (p = 0.087), peri-implantitis (p = 0.999) and peri-implant mucositis (p = 0.797) between the severely atrophic alveolar ridge group and the reference group. CONCLUSIONS: Even in severely atrophic maxillae with < 3 mm residual bone height, a one-stage maxillary sinus lift and immediate implant placement can be carried out safely.

First Clinical Case Report of a Xenograft-Allograft Combination for Alveolar Ridge Augmentation Using a Bovine Bone Substitute Material with Hyaluronate (Cerabone® Plus) Combined with Allogeneic Bone Granules (Maxgraft®).

BACKGROUND: A patient had lost the first left maxillary incisor in the esthetic zone. METHODS: The defect in the alveolar ridge was reconstructed for an implant-supported restoration using a new xenogeneic bone substitute containing hyaluronate, which was used in combination with allogeneic bone granules. RESULTS: After three years of follow-up, the dental implant was stable and showed no signs of infection. CONCLUSIONS: This is the first case report with a long-term follow-up time of three years of a successful clinical application of a xenograft-allograft combination (cerabone® plus combined with maxgraft®) for alveolar ridge augmentation before dental implantation. Cerabone® plus offers volume stability, provides reliable and efficient structural support of the oral soft tissues in the augmented region (particularly crucial in the aesthetic zone), and preserves the alveolar ridge shape.