Branchiootic syndrome-a clinical case report and review of the literature

Branchiootoic syndrome is part of the spectrum of brachiootorenal disorders. Brachiootorenal disorder is a rare autosomal dominant condition, characterized by malformations of the outer, middle, and inner ear, which are associated with branchial and renal anomalies. We describe a case of bilateral branchiootoic syndrome and discuss the anatomy of second branchial cleft fistulae and the surgical management of this uncommon condition. We report the case of a 6-year-old girl referred to our department with bilateral intermittently discharging neck swellings. Clinical examination revealed bilateral branchial fistulae and preauricular sinuses, on a background of a positive family history of branchial fistulae. A magnetic resonance imaging scan confirmed the diagnosis of bilateral second branchial cleft fistulae. In view of her symptoms, she underwent bilateral branchial fistula excision and tonsillectomy with an uneventful postoperative recovery.     

Executive functioning and depressed mood before and after unilateral frontal lobe resection for intractable epilepsy

Executive dysfunction occurs in a variety of patients who have sustained damage to the frontal lobes. In individuals with frontal lobe epilepsy (FLE) or after unilateral frontal lobe resection (FLR), a unique neuropsychological profile linking executive functions (EF) with the frontal lobe has been elusive, with conflicting findings in the literature. Some studies show greater risk of executive impairment with left-sided FLE or FLR, while others report greater risk for right-sided patients. Some studies report no relationship between FLE and EF impairment, while others show EF impairment regardless of side of seizure foci or surgery. In patients with temporal lobe epilepsy, executive dysfunction is associated with depressed mood possibly reflecting disruption of cortical-limbic pathways and/or frontal–striatal circuitry. Although not previously examined, depression level may affect executive functioning in those with FLE or FLR. We hypothesized that FLE patients with poor mood state would show greater executive dysfunction than FLE patients without poor mood state. The relationship among EF, side of surgery and depressed mood before and 8 months after unilateral FLR was evaluated in 64 patients using validated measures of EF and mood state (Beck Depression Inventory-II). Results indicated that individuals with depressed mood before surgery had greater difficulty on a task of mental flexibility compared to patients without preoperative depressed mood. Further, individuals with depressed mood before surgery had significant increases in perseverative responding and completed fewer categories on a card-sorting task after surgery compared to patients without preoperative depressed mood. Regression analyses showed that among side of surgery, seizure freedom status after surgery and depression status, only pre-surgical depression status explained a significant amount of variance in executive functioning performance after surgery. Results suggest that clinically elevated depressive symptoms before surgery are a risk factor for moderate declines in EF after surgery. Results may be attributable to reduced cognitive reserve in patients with depressive symptoms, or may reflect a common cause attributable to damage to unilateral dorsal and ventral lateral frontal lobe.     

The dosimetric impact of daily setup error on target volumes and surrounding normal tissue in the treatment of prostate cancer with intensity-modulated radiation therapy

The purpose of this study was to evaluate the impact of daily setup error and interfraction organ motion on the overall dosimetric radiation treatment plans. Twelve patients undergoing definitive intensity-modulated radiation therapy (IMRT) treatments for prostate cancer were evaluated in this institutional review board–approved study. Each patient had fiducial markers placed into the prostate gland before treatment planning computed tomography scan. IMRT plans were generated using the Eclipse treatment planning system. Each patient was treated to a dose of 8100 cGy given in 45 fractions. In this study, we retrospectively created a plan for each treatment day that had a shift available. To calculate the dose, the patient would have received under this plan, we mathematically “negated” the shift by moving the isocenter in the exact opposite direction of the shift. The individualized daily plans were combined to generate an overall plan sum. The dose distributions from these plans were compared with the treatment plans that were used to treat the patients. Three-hundred ninety daily shifts were negated and their corresponding plans evaluated. The mean isocenter shift based on the location of the fiducial markers was 3.3 ± 6.5 mm to the right, 1.6 ± 5.1 mm posteriorly, and 1.0 ± 5.0 mm along the caudal direction. The mean D95 doses for the prostate gland when setup error was corrected and uncorrected were 8228 and 7844 cGy (p < 0.002), respectively, and for the planning target volume (PTV8100) was 8089 and 7303 cGy (p < 0.001), respectively. The mean V95 values when patient setup was corrected and uncorrected were 99.9% and 87.3%, respectively, for the PTV8100 volume (p < 0.0001). At an individual patient level, the difference in the D95 value for the prostate volume could be >1200 cGy and for the PTV8100 could approach almost 2000 cGy when comparing corrected against uncorrected plans. There was no statistically significant difference in the D35 parameter for the surrounding normal tissue except for the dose received by the penile bulb and the right hip. Our dosimetric evaluation suggests significant underdosing with inaccurate target localization and emphasizes the importance of accurate patient setup and target localization. Further studies are needed to evaluate the impact of intrafraction organ motion, rotation, and deformation on doses delivered to target volumes.     

gyrA and parC mutations in quinolone-resistant clinical isolates of Pseudomonas aeruginosa from Nini Hospital in north Lebanon

The problem of Pseudomonas aeruginosa resistance to fluoroquinolones is of growing concern in hospitals. The major mechanism of the resistance of this bacterium to fluoroquinolones is the modification of type II topoisomerases (DNA gyrase and topoisomerase IV). In this study, we examined, using the technique of DNA pyrosequencing, mutations in the quinolone resistance-determining regions of the gyrA and parC genes of 38 clinical isolates of P. aeruginosa that were non-susceptible to at least one of the three fluoroquinolones tested. The most common origin of the isolates was sputum (44.7 %), followed by wounds (11 %), urine (5 %), and ear discharge (5 %). Serotypes O:11 (21 %), O:2 (18.4 %), and O:6 (7.8 %), were the most predominant. Among these 38 isolates, 11 were susceptible, 22 were resistant, and 5 were intermediate-resistant to ciprofloxacin. We found that 19 (50 %) of these strains had a mutation in the gyrA gene (Thr 83 Ile), one of them presented a new mutation (His 80 Arg), 8 (21.05 %) strains had an additional mutation in the parC gene (Ser 80 Leu), and one of these strains had two new mutations not previously reported (Gln 84 Asp, Ala 85 Gly). The ciprofloxacin-sensitive strains had no mutations in the sequence area examined. We found that 81.8 % of the isolates that were resistant to ciprofloxacin had a mutation in the gyrA gene. Some of these resistant strains also had a mutation in the parC gene. The results of this study suggest that pyrosequencing is a reliable technique for the determination of the antibiotic resistance pattern of a given bacterial strain.     

Clues from Bariatric Surgery: Reversing Insulin Resistance to Heal the Heart

Obesity is a state of metabolic dysregulation of the whole organism and a major contributing factor to the epidemic of insulin resistant diabetes. The nonpharmacologic treatment of obesity with bariatric surgery results in a dramatic and almost instantaneous reversal of insulin resistance. The present review collectively addresses the evidence for this phenomenon in the literature and discusses potential metabolic and neurohumoral mechanisms. We propose that nutrient restriction lowers the cell’s defense mechanisms for nutrient overload in insulin responsive organs.     

Impact of TAVI on Mitral Regurgitation: A Prospective Echocardiographic Study

Objective: This study aims to assess changes in mitral regurgitation (MR) severity after transcatheter aortic valve implantation (TAVI). Background: Existing data on MR after TAVI are contradictory. Methods: Thirty‐five patients with MR graded ≥ 2+ were followed after undergoing TAVI with either the Edwards Sapien or CoreValve device. Echocardiography was performed the week before and 3 months after the procedure. MR was graded on a scale of 0 to 4+, classified as organic or functional, and the effective regurgitant orifice area (EROA) and MR index were calculated. Results: At baseline, MR was graded 4+ in 4 (11.4%) patients, 3+  in 10 (28.6%), and 2+ in 21 (60%). At follow‐up, MR was graded at 3+ in 4 (11.4%) patients, 2+ in 8 (22.9%), and 1+ in 19 (54.3%); 4 (11.4%) exhibited no MR. EROA (24.4 ± 11.5 mm² pre‐TAVI vs. 11.2 ± 10.3 mm² post‐TAVI, P < 0.001) and MR index (1.9 ± 0.3 pre‐TAVI vs. 1.3 ± 0.7 post‐TAVI, P < 0.001) were reduced with TAVI, independent of the etiology. MR decreased by at least 1 grade in 28 (80%) patients, with a reduction ≥2 grades in 10 (28.6%) patients; no patient showed a worsened condition. Subgroup analyses showed that the reduction in MR was significant in patients treated with the Edwards Sapien device but not in patients treated with the CoreValve device. Conclusions: This multiparametric echocardiographic evaluation showed that MR improved significantly after TAVI and that this result may be related to the type of valve implanted.     

Polygenic risk heterogeneity among focal epilepsies

Focal epilepsy (FE) is clinically highly heterogeneous. It has been shown recently that not only rare but also a subset of common genetic variants confer risk for FE. The relatively modest power of genetic studies in FE suggests a high genetic heterogeneity of FE when grouped as one disorder. We hypothesize that the clinical heterogeneity of FE is correlated with genetic heterogeneity on a common risk variant level. To test the hypothesis, we used an FE polygenic risk score “FE-PRS” that combines small effect sizes of thousands of common variants from the largest FE-GWAS (genome-wide association study) into a single measure. We grouped 414 individuals with FE according to common clinical features into subgroups, either by one feature at a time or by all features combined in a cluster analysis. We examined their association with FE-PRS compared to 20 435 matched population controls and observed heterogeneous FE-PRS burden among the subgroups. The highest phenotypic variance explained by FE-PRS was identified in a cluster analysis–defined FE subgroup where all individuals had unknown etiologies and psychiatric comorbidities, and the majority had early onset seizures. Our results indicate that genetic factors associated with FE have differential burden among FE subtypes. Future studies using better-powered FE-PRS might have clinical utility.