Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene

Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause.     

Littoral cell angioma presenting as metastatic thyroid carcinoma to the spleen.

Papillary thyroid carcinoma (PTC) commonly metastasizes to cervical lymph nodes. Distant metastases are unusual with the lungs most frequently involved. Well-differentiated thyroid carcinoma very rarely presents with metastases to the spleen. This is the case of a 25-year-old man with a history of PTC (1.4 cm primary; no capsular invasion and negative lymph node metastases). One year after initial surgery, recurrent disease was found in multiple neck nodes by central neck dissection. Whole body scan (WBS) following a therapeutic ablation dose of 150 mCi I(131) revealed mediastinal metastases. Computerized axial tomography (CT) of the chest one year later showed no gross mediastinal or pulmonary disease. However, multiple large splenic lesions were incidentally noted. Evaluation by ultrasound (US) showed lesions to be solid echogenic masses without remarkable Doppler characteristics to suggest vascular tumors. US-guided percutaneous fine-needle aspiration biopsy (FNAB) of one lesion was nondiagnostic. After withdrawal from Levothyroxine, serum TSH was >100 mU/L with a thyroglobulin of 9.4 ng/mL and negative anti-thyroglobulin antibodies. Diagnostic WBS revealed faint splenic uptake but was otherwise unremarkable. Following treatment with 192 mCi I(131), WBS demonstrated increased activity in the mediastinum as well as in the spleen suggesting mediastinal and splenic metastases. Contrast CT of the abdomen showed multiple low-attenuated heterogeneously enhancing splenic masses, normal liver and no intra-abdominal lymphadenopathy. The largest mass (4.5 x 3.5 cm) was exophytic and in close proximity to the splenic capsule. Despite the serum thyroglobulin of only 9.4 ng/mL, the finding of I(131) accumulation within solid splenic masses led to a preoperative diagnosis of thyroid carcinoma metastases. To establish the diagnosis and to remove the risk for splenic rupture, a laparoscopic splenectomy was performed. Histopathologic analysis showed large littoral cell angiomas (LCA). False-positive radioiodine scintigraphy in the setting of PTC involving a vertebral hemangioma has been reported. To our knowledge, this is the first case that describes multiple angiomas mimicking metastatic thyroid carcinoma to the spleen. In one-third of all cases reported, LCA co-exists with various visceral organ cancers or malignant lymphoma. This is the first report of an association between LCA and thyroid carcinoma.     

Effect of Alveolar Segmental Sandwich Osteotomy on Alveolar Height: A Preliminary Study

Purpose

Bone loss following extraction is maximum in horizontal dimension. Height is also reduced which is pronounced on the buccal aspect. Various surgical procedures are available to correct the bone volume viz. GBR, onlay bone grafting, alveolar distraction and sandwich osteotomy. Sandwich osteotomy has been found to increase the vertical alveolar bone height successfully.

Objectives

The objective of the study was to assess the effect of alveolar segmental sandwich osteotomy on alveolar height and crestal width.

Materials and Methodology

A prospective study was undertaken from December 2012 to August 2014. Seven patients with 12 implant sites with a mean age of 36 years were recruited. All seven patients with 12 implant sites underwent alveolar segmental sandwich osteotomy and interpositional bone grafting. Alveolar bone height was assessed radiographically preoperatively, immediate post-op, and at 3 months post-op. Alveolar bone width was assessed radiographically preoperatively and at 3 months post-op. Statistical significance was inferred at p < 0.05.

Results

The mean vertical augmentation at immediate post-op was 6.58 mm (p = 0.001). The vertical augmentation that was achieved 3 months post-op was a mean of 3.75 mm which was statistically significant (p = 0.004). The change in alveolar height from immediate post-op to 3 month post-op was a mean 1.69 mm. The mean change in alveolar crestal width at 3 months was a mean of ?0.29 mm (p = 0.57).

Conclusion

Sandwich osteotomy can be used as an alternative technique to increase alveolar bone height prior to implant placement. Moderate alveolar deficiency can be predictably corrected by this technique.

     

Unresolving trismus following third molar surgery: Report of a case of fibrodysplasia ossificans progressiva with review of literature

Background: Trismus is a problem commonly encountered by the dental practitioner. It has a number of potential causes, and its treatment will depend on the cause. However, there are very few reports of trismus due to fibrodysplasia ossificans progressiva (FOP) following third molar surgery.

Clinical Presentation: FOP is a rare human genetic disorder with characteristic clinical features like progressive formation of extraskeletal bone or heterotopic ossification and congenital malformation of the great toes.

Clinical Significance: It is troublesome to the maxillofacial surgeon, that minimal manipulation and minor surgery can induce bone formation in soft tissues of the head and neck region, particularly the masticatory muscles and the temporomandibular joint. This paper presents a case of severe trismus following third molar extraction, intractable by routine treatment methods, which was later diagnosed as FOP.     

Depression and risk for Alzheimer disease: systematic review, meta-analysis, and metaregression analysis

CONTEXT: A history of depression may increase risk for developing Alzheimer disease (AD) later in life. Clarifying this relation might improve understanding of risk factors for and disease mechanisms in AD. OBJECTIVE: To systematically review and complete a meta-analysis on the relation of depression and AD. DATA SOURCES: We conducted electronic bibliographic searches of MEDLINE, PsychLit, EMBASE, and BIOSIS using search terms sensitive to studies of etiology combined with searches on terms related to depression and AD and reviewed reference lists of articles. STUDY SELECTION: Studies with data contrasting depressed vs nondepressed patients who did and did not later develop AD were included. Studies that related continuous measures of depression and cognitive status were excluded. DATA EXTRACTION: Numerical data were independently extracted by 3 reviewers. They also rated studies on a scale that assessed quality indicators for observational studies. Data on the interval between observation of depression and the diagnosis of AD were collected when available. DATA SYNTHESIS: Meta-analytic evaluation with random-effects models resulted in pooled odds ratios of 2.03 (95% confidence interval, 1.73-2.38) for case-control and of 1.90 (95% confidence interval, 1.55-2.33) for cohort studies. Findings of increased risk were robust to sensitivity analyses. Interval between diagnoses of depression and AD was positively related to increased risk of developing AD, suggesting that rather than a prodrome, depression may be a risk factor for AD. CONCLUSIONS: A history of depression may confer an increased risk for later developing AD. This relation may reflect an independent risk factor for the disease.     

A post hoc analysis of the impact on hostility and agitation of quetiapine and haloperidol among patients with schizophrenia

BACKGROUND: Quetiapine, a drug with a broad pharmacologic profile (similar to that of clozapine), may show benefits for agitation in patients with psychoses. Also, quetiapine may be superior to placebo and either equal or superior to haloperidol in treating this symptom. Available data for other second-generation antipsychotic agents show that quetiapine may have better efficacy in improving agitation compared with haloperidol. OBJECTIVE: This reanalysis of a previously reported pivotal clinical trial assessed whether quetiapine or haloperidol has benefits for the treatment of hostility and agitation among patients experiencing an acute exacerbation of schizophrenia. METHODS: Patients aged 18 to 65 years of either sex and any ethnicity who had a diagnosis of schizophrenia based on the Diagnostic and Statistical Manual of Mental Disorders, Revised Third Edition criteria and who were experiencing an acute exacerbation were recruited into the study. A priori, data from patients assigned to 4 therapeutically effective quetiapine treatment groups (150, 300, 600, and 750 mg) in a previously reported 6-week, double-blind, placebo-controlled clinical trial were combined and compared with data from patients given haloperidol 12 mg or placebo on an agitation measure derived from the Brief Psychiatric Rating Scale (BPRS). Patients who received at least 2 weeks of treatment who had a baseline assessment and at least 1 postbaseline assessment after the 2 weeks of treatment were included. An analysis of variance with the baseline hostility score and center as covariates was used to assess treatment effects of quetiapine or haloperidol versus placebo for changes in agitation scores. A path analysis was used to separate the direct from the indirect effects (via improvements in psychoses and/or overall psychopathology) on agitation scores of quetiapine relative to haloperidol. RESULTS: A total of 257 patients (193 men, 64 women) were studied. The combined quetiapine groups comprised 175 patients; the haloperidol group, 42 patients; and the placebo group, 40 patients. Quetiapine treatment reduced agitation scores significantly among patients with acute psychoses compared with placebo. A slight reduction in agitation scores was found when haloperidol treatment was compared with placebo, but this difference was not statistically significant. Compared with haloperidol, quetiapine treatment had a direct and significant effect on agitation that was independent of the improvement in psychotic symptoms. CONCLUSIONS: The data in this study suggest that quetiapine treatment has benefits for hostility and agitation among patients experiencing an acute exacerbation of schizophrenia. Furthermore, the path analysis indicated that, relative to haloperidol, quetiapine appeared to have direct effects on agitation that were independent of improvements in psychoses or overall psychopathology, as assessed by the BPRS.     

Analysis and Optimization of Dimensional Accuracy and Porosity of High Impact Polystyrene Material Printed by FDM Process: PSO,JAYA, Rao,and Bald Eagle Search Algorithms

High impact polystyrene (HIPS) material is widely used for low-strength structural applications. To ensure proper function, dimensional accuracy and porosity are at the forefront of industrial relevance. The dimensional accuracy cylindricity error (CE) and porosity of printed parts are influenced mainly by the control variables (layer thickness, shell thickness, infill density, print speed of the fused deposition modeling (FDM) process). In this study, a central composite design (CCD) matrix was used to perform experiments and analyze the complete insight information of the process (control variables influence on CE and porosity of FDM parts). Shell thickness for CE and infill density for porosity were identified as the most significant factors. Layer thickness interaction with shell thickness, infill density (except for CE), and print speed were found to be significant for both outputs. The interaction factors, i.e., shell thickness and infill density, were insignificant (negligible effect) for both outputs. The models developed produced a better fit for regression with an R² equal to 94.56% for CE, and 99.10% for porosity, respectively. Four algorithms (bald eagle search optimization (BES), particle swarm optimization (PSO), RAO-3, and JAYA) were applied to determine optimal FDM conditions while examining six case studies (sets of weights assigned for porosity and CE) focused on minimizing both CE and porosity. BES and RAO-3 algorithms determined optimal conditions (layer thickness: 0.22 mm; shell thickness: 2 mm; infill density: 100%; print speed: 30 mm/s) at a reduced computation time equal to 0.007 s, differing from JAYA and PSO, which resulted in an experimental CE of 0.1215 mm and 2.5% of porosity in printed parts. Consequently, BES and RAO-3 algorithms are efficient tools for the optimization of FDM parts.     

Gargantuan internal carotid artery aneurysm—a surgical challenge

Extracranial carotid artery aneurysms are a rarely reported entity. Here, we describe an unusually large internal carotid artery aneurysm in a 76-year-old female, with progressive enlargement and history of thromboembolic event. She was managed successfully with an open repair and common carotid artery to internal carotid artery bypass.