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Τετάρτη 28 Οκτωβρίου 2020

Phosphatidylinositol 4 kinase-β is required for the ciliogenesis of zebrafish otic vesicle

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Publication date: Available online 28 October 2020

Source: Journal of Genetics and Genomics

Author(s): Yufei Feng, Ping Yu, Jingyu Li, Ying Cao, Jingjing Zhang

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Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation

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Publication date: Available online 28 October 2020

Source: Journal of Genetics and Genomics

Author(s): Xiulan Su, Yufei Feng, Sofia A. Rahman, Shuilong Wu, Guoan Li, Franz Rüschendorf, Lei Zhao, Hongwei Cui, Junqing Liang, Liang Fang, Hao Hu, Sebastian Froehler, Yong Yu, Giannino Patone, Oliver Hummel, Qinghua Chen, Klemens Raile, Friedrich C. Luft, Sylvia Bähring, Khalid Hussain

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Angioembolization in intra-abdominal solid organ injury: Does delay in angioembolization affect outcomes?

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imageINTRODUCTION Angioembolization (AE) is an integral component in multidisciplinary algorithms for achieving hemostasis in patients with trauma. The American College of Surgeons Committee on Trauma recommends that interventional radiologists be available within 30 minutes to perform emergent AE. However, the impact of the timing of AE on patient outcomes is still not well known. We hypothesized that a delay in AE would be associated with increased mortality and higher blood transfusion requirements in patients with blunt intra-abdominal solid organ injury. METHODS A 4-year (2013–2016) retrospective review of the ACS Trauma Quality Improvement Program database was performed. We included adult patients (age, ≥18 years) with blunt intra-abdominal solid organ injury who underwent AE within 4 hours of hospital admission. Patients who underwent operative intervention before AE were excluded. The primary outcome was 24-hour mortality. The secondary outcome was blood product transfusions. Patients were grouped into four 1-hour intervals according to their time from admission to AE. Multivariate regression analysis was performed to accommodate patient differences. RESULTS We analyzed 1,009,922 trauma patients, of which 924 (1 hour, 76; 1–2 hours, 224; 2–3 hours, 350; 3–4 hours, 274) were deemed eligible. The mean ± SD age was 44 ± 19 years, and 66% were male. The mean ± SD time to AE was 144 ± 54 minutes, and 92% of patients underwent AE more than 1 hour after admission. Overall 24-hour mortality was 5.2%. On univariate analysis, patients receiving earlier AE had decreased 24-hour mortality (p = 0.016), but no decrease in blood products transfused. On regression analysis, every hour delay in AE was significantly associated with increased 24-hour mortality (p
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New technology‐based assistive techniques in total knee arthroplasty: A Bayesian network meta‐analysis and systematic review

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Abstract

Background

The radiological and clinical efficiency among robot‐assisted surgery (RAS), computer‐assisted navigation system (CAS) and conventional (CON) total knee arthroplasty (TKA) remains controversial.

Methods

Bayesian network meta‐analysis (NMA) and systematic review were performed to investigate radiological and clinical efficiency respectively. The certainty of the evidence was evaluated using GRADE and CERQual tool.

Results

Thirty‐four RCTs (7289 patients and 7424 knees) were included. The NMA showed that RAS‐TKA had the highest probability for mechanical axis restoration (odds ratio for RAS vs. CAS 3.79, CrI 1.14 to 20.54, very low certainty), followed by CAS‐TKA (odds ratio for CAS vs. CON 2.55, CrI 1.67 to 4.01, very low certainty) and then CON‐TKA, without significant differences in other radiological parameters. No differences were found in clinical outcomes after qualitative systematic review (overall low certainty).< /p>

Conclusions

Technology‐based assistive techniques (CAS and RAS) may surpass the CON‐TKA, when considering higher radiological accuracy and comparable clinical outcomes.

This article is protected by copyright. All rights reserved.

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Peroral Endoscopic Myotomy Is Effective for Patients With Achalasia and Normal Lower-Esophageal Sphincter Relaxation Pressures.

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Peroral Endoscopic Myotomy Is Effective for Patients With Achalasia and Normal Lower-Esophageal Sphincter Relaxation Pressures.

Clin Gastroenterol Hepatol. 2019 12;17(13):2803-2805

Authors: Sanaka MR, Parikh MP, Thota PN, Gupta NM, Gabbard S, Lopez R, Murthy S, Raja S

Abstract
Increased lower esophageal sphincter integrated relaxation pressure (LES-IRP) is a cardinal feature of achalasia. However, some patients with characteristic features of achalasia have normal LES-IRP.1,2 The efficacy of peroral endoscopic myotomy (POEM) in achalasia patients with normal LES-IRP is not well known. Hence, we aimed to compare POEM outcomes in achalasia patients with normal (<15 mm Hg) and increased (≥15 mm Hg) LES-IRP.

PMID: 30153516 [PubMed - indexed for MEDLINE]

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Pepsin Triggers Neutrophil Migration Across Acid Damaged Lung Epithelium.

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Pepsin Triggers Neutrophil Migration Across Acid Damaged Lung Epithelium.

Sci Rep. 2019 09 24;9(1):13778

Authors: Hurley BP, Jugo RH, Snow RF, Samuels TL, Yonker LM, Mou H, Johnston N, Rosen R

Abstract
Pepsin represents a potential biomarker for extraesophageal reflux disease when detected in airways, however a direct role for pepsin in lung dysfunction has not been clearly established. Children experiencing gastroesophageal and extraesophageal reflux are often prescribed proton pump inhibitors (PPIs) to reduce gastric acid associated damage to esophageal and airway mucosa. The potential of pepsin and gastric fluid, from children that were either on or off PPI therapy, to cause inflammation and damage using a human in vitro co-culture model of the airway mucosa was evaluated herein. Exposure of the airway model to acidic solutions caused cellular damage and loss of viability, however, acid alone did not disrupt barrier integrity or instigate neutrophil trans-epithelial migration without pepsin. Gastric fluid from patients on PPI therapy exhibited only a slightly higher pH yet had significantly higher concentrations of pepsin and elicited more barrier disruption and neutroph il trans-epithelial migration compared to gastric fluid from patients off PPIs. Inflammatory and damaging responses observed with gastric fluid from patients on PPIs were largely driven by pepsin. These results indicate the potential for PPI usage to raise concentrations of pepsin in gastric fluid, which may enhance the pathological impact of micro-aspirations in children with extraesophageal reflux.

PMID: 31551494 [PubMed - indexed for MEDLINE]

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Operative and Postoperative Complications of Laparoscopic Sleeve Gastrectomy in Super and Nonsuper Obese Patients: A Center of Excellence Experience Comparative Study.

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Operative and Postoperative Complications of Laparoscopic Sleeve Gastrectomy in Super and Nonsuper Obese Patients: A Center of Excellence Experience Comparative Study.

J Laparoendosc Adv Surg Tech A. 2020 May;30(5):501-507

Authors: Vilallonga R, Hidalgo M, Garcia Ruiz de Gordejuela A, Caubet E, Gonzalez O, Ciudin A, Rodríguez-Luna MR, Roriz-Silva R, Petrola C, Armengol M, Fort JM

Abstract
Background: Laparoscopic sleeve gastrectomy (LSG) is now one of the most common surgical procedures worldwide. It was initially defined for staged procedures in super or super-super obese, or in very complex patients. The primary objective of the study was to assess the safety of LSG for morbid-obese (MO, body mass index [BMI] >40 kg/m2) and super-morbid-obese (SMO, BMI >50 kg/m2) patients in terms of operative and postoperative complication rate. Methods: This study involves a retrospective analysis of a prospective database that included data for patients who underwent LSG, between 2008 and 2017, in our institution. All LSG procedures were performed by the same two certified bariatric surgeons following a standardized surgical procedure. Data on operative and postoperative complications were collected for all the patients. Results: A total of 713 patients were included in the study 495 (61.42%) were MO (mean age 46.06 ± 11.98 years) and 218 (30.58%) were SMO (mean age 42.98 ± 11.17 years). There were no significant differences between both groups in terms of minor and major postoperative complications or long-term complications. Postoperative mortality was slightly higher in the MO group but without statistically significant differences (MO: 0.2%; SMO: 0%). Long-term reoperation rate and late complications were higher in the MO group 6.12% versus 4.04% and 17.43% versus 15.15%, respectively. Reoperation for gastroesophageal reflux disease was higher in MO patients compared to SMO and weight issues reoperation higher in the SMO. Conclusion: We found LSG as a safe procedure in both groups. Interestingly long-term reoperation and complications rates were higher in the MO group.

PMID: 32181691 [PubMed - indexed for MEDLINE]

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Pediatric laryngopharyngeal reflux

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Pediatric laryngopharyngeal reflux: Perceptual, acoustic, and laryngeal findings.

Int J Pediatr Otorhinolaryngol. 2020 Jun;133:109974

Authors: Wertz A, Carroll LM, Zur KB

Abstract
OBJECTIVES: Describe acoustic and laryngeal findings in pediatric patients with subjective dysphonia attributed to laryngopharyngeal reflux (LPR). Determine the impact of LPR on perceived voice quality using the pediatric Voice Handicap Index (pVHI). Compare these findings with age-matched normative values as well as data on pediatric patients with dysphonia due to other etiologies.
METHODS: Retrospective case series of pediatric patients (age 2-17 years) evaluated at a specialty pediatric voice clinic at a tertiary care children's hospital from January 1 2007 to December 31 2017 in whom LPR in whom LPR was deemed to be the most significant contributing factor for dysphonia based on physical examination and history. Patients with structural laryngeal abnormalities unrelated to LPR, such as raised lesions, stenosis, papillomatosis, or vocal fold immobility were excluded.
RESULTS: 163 out of 1195 evaluable patients met inclusion criteria. Of these, 87% had pVHI and 83% had acoustic data available from their first appointment for analysis. Mean total pVHI score was 24 (range: 0-81). Perturbation measures were elevated in both females (jitter 1.38%, shimmer 4.16%) and males (jitter 2.01%, shimmer 5.62%). Laryngologic assessment revealed: vocal fold changes including erythema and/or pre-nodules in 72% of patients. Cobblestoning of any portion of the pharynx was present in 67% with hypopharyngeal cobblestoning the most common, present in 64% of patients.
CONCLUSION: Pediatric patients with clinically diagnosed LPR have pVHI, jitter, and shimmer scores that are comparable to previously reported patients with raised lesions, scar and immobility, and values that are significantly higher than published normative data. Dysphonic children should be assessed for LPR and treated when indicated.
LEVEL OF EVIDENCE: 4.

PMID: 32197186 [PubMed - indexed for MEDLINE]

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Ibrutinib treatment via alternative administration in a patient with chronic lymphocytic leukemia and dysphagia.

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Ibrutinib treatment via alternative administration in a patient with chronic lymphocytic leukemia and dysphagia.

J Oncol Pharm Pract. 2020 Oct 27;:1078155220967440

Authors: DiSogra KY, Tran T, Arnall JR, Janes A, Moore DC, Park SI

Abstract
INTRODUCTION: Ibrutinib is a small molecule inhibitor of Bruton's tyrosine kinase indicated for the treatment of a variety of B-cell malignancies including chronic lymphocytic leukemia, mantle cell lymphoma, marginal zone lymphoma, and Waldenstrom's macroglobulinemia. These indolent hematologic malignancies are considered diseases of the elderly, a population that may have dysphagia leading to difficulty swallowing tablets and capsules. Ibrutinib is currently not available in a liquid oral dosage form. We report the utilization and clinical outcomes associated with alternative administration of ibrutinib capsules in a patient with chronic lymphocytic leukemia and significant dysphagia.
CASE REPORT: An 86-year old female requiring chronic lymphocytic leukemia-directed therapy due to a rising absolute lymphocyte count and worsening, transfusion-dependent anemia with a past medical history of dementia and dysphagia, was initiated on ibrutinib.
MANAGEMENT & OUTCOME: Due to the patient's significant inability to swallow, ibrutinib capsules were administered via an alternative method by opening them and sprinkling onto soft food or applesauce. With ibrutinib therapy, the patient has had a significant clinical response in her chronic lymphocytic leukemia as evidenced by her decreased absolute lymphocyte count and achieving transfusion independence with improvements in hemoglobin.
DISCUSSION: Ibrutinib administration via this alternative method resulted in an initial clinical response in the treatment of our patient's chronic lymphocytic leukemia as evidenced by a decreasing absolute lymphocyte count and improved anemia that achieved transfusion independence. The patient has maintained this response to therapy after approximately 1 year at the time of manuscript preparation.

PMID: 33106104 [PubMed - as supplied by publisher]

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Swallowing evaluation by the Kuchikara Taberu Balance Chart and videoendscopic examination reveals that respiratory conditions, chewing, and position are strongly related to dysphagia.

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Swallowing evaluation by the Kuchikara Taberu Balance Chart and videoendscopic examination reveals that respiratory conditions, chewing, and position are strongly related to dysphagia.

Odontology. 2020 Oct 27;:

Authors: Tonosaki K, Yonenaga K, Ono S, Itai S, Oyama S, Mizuno T, Watanabe R, Hoshi K

Abstract
This study focused on the Kuchikara Taberu Balance Chart (KTBC) as a tool for swallowing function evaluation. To clarify the relationship between videoendoscopic (VE) examination of swallowing function and the KTBC, we compared median KTBC scores with and without laryngeal penetration identified by VE. Sixty-five patients with a mean age of 84.3 ± 7.9 years were examined at the Towada City Hospital. The patients were classified into groups based on laryngeal penetration, including 28 patients with and 37 patients without penetration. We found no significant differences in patient backgrounds. The median KTBC score (interquartile range) was 36.5 (31-44.5) in the group with laryngeal penetration and 42 (35-48.5) in the group without penetration, but the scores were not significantly different (level of statistical significance at α = 0.0036 determined by the Bonferroni correction method) when compared with the Mann-Whitney U test (36.5 vs. 42, z = -2.33, p  = 0.020). The median respiratory condition (4 vs. 3, z = - 3.23; p < 0.0036), oral preparatory and propulsive phases (4 vs. 3, z = - 2.96; p < 0.0036), and position and endurance (3 vs. 1, z = - 3.25; p < 0.0036) scores were significantly lower in the group without laryngeal penetration. This study revealed a correlation between laryngeal penetration confirmed by VE and KTBC scores. Consequently, respiratory condition, oral preparatory and propulsive phases, and position and endurance may be useful as tools for the assessment of swallowing. In particular, we recommend adding respiratory status to dysphagia screening.

PMID: 33108554 [PubMed - as supplied by publisher]

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MRI-based radiomics to predict lipomatous soft tissue tumors malignancy: a pilot study

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Abstract

Objectives

To develop and validate a MRI-based radiomic method to predict malignancies in lipomatous soft tissue tumors.

Methods

This retrospective study searched in the database of our pathology department, data from patients with lipomatous soft tissue tumors, with histology and gadolinium-contrast enhanced T1w MR images, obtained from 56 centers with non-uniform protocols. For each tumor, 87 radiomic features were extracted by two independent observers to evaluate the inter-observer reproducibility. A reduction of learning base dimension was performed from reproducibility and relevancy criteria. A model was subsequently prototyped using a linear support vector machine to predict malignant lesions.

Results

Eighty-one subjects with lipomatous soft tissue tumors including 40 lipomas and 41 atypical lipomatous tumors or well-differentiated liposarcomas with fat-suppressed T1w contrast enhanced MR images available were retrospectively enrolled. Based on a Pearson's correlation coefficient threshold at 0.8, 55 out of 87 (63.2%) radiomic features were considered reproducible. Further introduction of relevancy finally selected 35 radiomic features to be integrated in the model. To predict malignant tumors, model diagnostic performances were as follow: AUROC = 0.96; sensitivity = 100%; specificity = 90%; positive predictive value = 90.9%; negative predictive value = 100% and overall accuracy = 95.0%.

Conclusion

This work demonstrates that radiomics allows to predict malignancy in soft tissue lipomatous tumors with routinely used MR acquisition in clinical oncology. These encouraging results need to be further confirmed in an external validation population.

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