X-Linked Sinus Node Dysfunction and Atrial Fibrillation. Introduction: Atrial fibrillation (AF) is a heritable disorder with male predilection, suggesting a sex chromosome defect in certain patients. Loss-of-function truncation mutations in EMD, encoding the nuclear membrane protein emerin, cause X-linked Emery-Dreifuss muscular dystrophy (EDMD) characterized by localized contractures and skeletal myopathy in adolescence, sinus node dysfunction (SND) in early adulthood, and atrial fibrillation as a variably associated trait. This study sought to identify the genetic basis for male-restricted, nonsyndromic sinus node dysfunction and AF in a multigenerational family. Methods and Results: Genealogical and medical records, and DNA samples, were obtained. Progressive SND and AF occurred in four males related through maternal lineages, consistent with X-linked inheritance. Skeletal myopathy was absent, even at advanced ages. Targeted X chromosome genotyping mapped the disease locus to Xq28, implicating EMD as a positional candidate gene. DNA sequencing revealed hemizygosity for an in-frame 3-bp deletion in EMD (Lys37del) in affected males, disrupting a residue within the LEM binding domain critical for nuclear assembly but leaving the remainder of the protein intact. Buccal epithelial cell staining with emerin antibody demonstrated near-total functional loss of emerin. Female relatives underwent prospective electrocardiographic and genetic testing. Those heterozygous for Lys37del had ∼50-70% emerin-positive nuclei and variable degrees of paroxysmal supraventricular arrhythmia. Conclusions: Mutation of EMD can underlie X-linked familial AF. Lys37del is associated with epithelial cell emerin deficiency, as in EDMD, yet it causes electrical atriomyopathy in the absence of skeletal muscle disease. Targeted genetic testing of EMD should be considered in patients with SND-associated AF and/or family history suggesting X-linked inheritance.

>Magister Scientiae - MSc / Periapical lesions are fairly common pathology associated with the apex of a non-vital tooth. Some chronic lesions develop without an acute phase with no recollection of previous symptoms. It is known that maxillary odontogenic infections can breach the sinus floor with succeeding complications. Pantomography, a widespread conventional radiographic technique, provides a generalized view of the maxillofacial region. Advanced modalities like CBCT may facilitate in navigating complex anatomy, which would otherwise be obscured.

Indiana University-Purdue University Indianapolis (IUPUI) / Frontonasal malformation, FNM, was first described by Hoppe in 1859. FNM is an anomaly that is characterized by ocular hypertelorism, broad nasal root, lack of a nasal tip, V-shaped hair, prolongation onto the forehead (widow's peak), anterior cranium bifidum occultum, median facial cleft affecting the nose, upper lip, and/or palate, and uni- or bilateral clefting of the ala nasi. The anomalies noted in FNM may be explained as a single malformation. If the nasal capsule fails to develop properly, the primitive brain vesicle fills the space normally occupied by the capsule, thus producing anterior cranium bifidum occultum, an arrest in the positioning of the eyes, and a lack of formation of the nasal tip. The condition presents clinically with variable expressions as sporadic cases and infrequently in familial cases. The present study is the first attempting to quantify and characterize FNM via anatomic radiographic measurements. The lateral (LA) and posterior-anterior (PA) cephalometric radiographs of twenty-four individuals, both sporadic and familial, with FNM were analyzed for comparison of linear and angular measurements with previously published data of a "normal," i.e. unaffected, population standard. Usual and customary cephalometric points were identified and located, then digitized into the computer. Twenty-nine measurements included the previously diagnosed anomalous features of hypertelorism, medial nasal cavity, and palatal shelves, as well as other facial features. The radiographs of individuals with FNM have anatomic features that are unusual and distinct to the specific malformation. The data from this research suggest that patients with FNM, regardless of a genetic or sporadic predisposition, have a midface deficiency in height and depth, an increased interorbital width with possible increased orbital socket width, and a longer zygomatic buttress. Also, the familial cases tend to have a flatter cranial base than the sporadic cases. Furthermore, the familial patients might be a different type of FNM since this subgroup shows narrower zygomatic widths. The patients with surgical procedures demonstrated improvement different from the growth of those patients who did not have surgery. The hypothesis that the facies of a patient with frontonasal malformation is different from the "normal" control population is supported by this research. The differences between the familial and sporadic patients tend to support the general theory that genetic predisposition is less severe than FNM that occurs randomly.

Abstract available through the Journal of Investigative Medicine.

AIM/PURPOSE: To investigate the correlation between the histopathology of periapical lesion of endodontic origin and the radiographic findings of the maxillary sinus observed by cone-beam computed tomography (CBCT). MATERIAL AND METHODS: Retrospective record review study, data collected of patients received surgical root canal treatment at Boston University school of dental medicine. Total of 39 periapical lesions all had CBCT scans and pathology reports. Each periapical lesion was biopsied and examined by oral & maxillofacial pathologist. CBCT scans for each lesion were examined by two examiners: endodontic resident and board-certified endodontic faculty. RESULTS: 65% of the lesions associated with changes in the maxillary sinus and 35% had no changes as seen on the CBCT scans. 82% of the lesions were granulomas 15.5% were cysts and 2.5% OKC. Out of the 65% (26 lesions) maxillary sinus changes were 50% (13) were periapical mucositis (PAM) & 50% (13) were periapical osteoperiostitis (PAO). CONCLUSION: Histopathology of the periapical lesion didn’t have an effect on the type of changes observed in the sinus. And the closer the lesion was to the sinus the more chances of developing changes in the sinus.

Although we have several therapeutic interventions for depression, we lack an understanding of the mechanisms that underlie these interventions. To gain a better understanding of the mental health conditions we treat, diagnoses we make, and interventions we use, mechanistic understandings are necessary. There is evidence that exposure to depressive emotion and cognitions can yield therapeutic outcome. The current study examines the physiology associated with an intervention, expressive writing (EW), which other research has shown to produce therapeutic outcomes because it increases exposure to negative feelings. The current study tests the hypothesis that EW increases depressive emotion, cognition, and physiology. Depression has been associated with decreased respiratory sinus arrhythmia (RSA) and increased heart rate (HR). RSA and HR were measured while participants did either EW or a control writing (CW) task. Because measures of RSA can be confounded by respiratory rate (RR), RR was also measured and statistically controlled for. Results revealed that EW does not alter RSA or HR. Interestingly, exploratory regression analyses between HR and RR during EW suggest that EW might trigger exposure to a depressive physiological state. Further investigation into the relationship between HR and RR during EW is warranted. / Thesis / Master of Science (MSc) / The current study examines the emotion, cognition, and physiology associated with an intervention, expressive writing (EW), which is commonly used as a treatment for anxiety and depression. Research has suggested that EW produces therapeutic outcome because it increases exposure to negative feelings. The current study tests the hypothesis that EW increases depressive emotion, cognition, and physiology. Results suggest that EW increases depressive emotion and cognition but does not alter some of the physiological parameters that have been associated with depression in prior research. An unpredicted exploratory result was that EW affected the relationship between heart rate and respiratory rate. Further investigation into the relationship between heart rate and respiratory rate during EW is warranted.

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Purpose: The purpose of this study is to investigate the prevalence of intraosseous vascular canals in the lateral wall of the maxillary sinus by utilizing high quality Cone Beam Computerized tomography (CBCT) scans. Material and Methods: 111 CBCTs that were obtained in a private practice were randomly selected from 500 CBCTs. The CBCTs were obtained from 2007 to 2011 with an iCAT CBCT unit. Then were reconstructed and imported into Simplant pro 15 software. Among the 111 selected CBCT images 13 scans that were not covering the sinus cavity entirely or had poor quality (e.g. scattering) were excluded from the study. All the CT scans were examined for presence or absence of intraosseous anastomosis by a single investigator. All the para-axial sections were carefully observed on both left and right side. The focus was on the area that most commonly the lateral window is prepared. In other words, the main area that was evaluated was from Distal of canine to distal of second molar on each side. Result: From initial 111 selected CBCTs, 13 were excluded due to either quality or the range of coverage. 52 (53%) were female and the rest 46 (47%) were male. 54 (55.1%) anastomosis noted among the 98 CBCTs that were evaluated. In other words, in 196 sinuses that were evaluated 27.5% of them had intraosseous anastomosis. Conclusion: the presence of intraosseous vascular canals in the lateral wall of the maxillary sinus is not a prevalent finding. Learning of the presence of intraosseous anastomosis in the lateral wall of the maxillary sinus would help with minimizing bleeding complications associated with the lateral wall approach sinus augmentation technique. Therefore, evaluation of the CBCT for anatomical variations is recommended prior to sinus augmentation surgeries. / Oral Biology