Bioenergy production from chicken feather waste by anaerobic digestion and bioelectrochemical systems.

BACKGROUND: Poultry feather waste has a potential for bioenergy production because of its high protein content. This research explored the use of chicken feather hydrolysate for methane and hydrogen production via anaerobic digestion and bioelectrochemical systems, respectively. Solid state fermentation of chicken waste was conducted using a recombinant strain of Bacillus subtilis DB100 (p5.2). RESULTS: In the anaerobic digestion, feather hydrolysate produced maximally 0.67 Nm3 CH4/kg feathers and 0.85 mmol H2/day.L concomitant to COD removal of 86% and 93%, respectively. The bioelectrochemical systems used were microbial fuel and electrolysis cells. In the first using a microbial fuel cell, feather hydrolysate produced electricity with a maximum cell potential of 375 mV and a current of 0.52 mA. In the microbial electrolysis cell, the hydrolysate enhanced the hydrogen production rate to 7.5 mmol/day.L, with a current density of 11.5 A/m2 and a power density of 9.26 W/m2. CONCLUSIONS: The data indicated that the sustainable utilization of keratin hydrolysate to produce electricity and biohydrogen via bioelectrical chemical systems is feasible. Keratin hydrolysate can produce electricity and biofuels through an integrated aerobic-anaerobic fermentation system.

Gamma irradiation and ozone application as preservation methods for longer-term storage of bee pollen.

Bee pollen is a healthy product with a good nutritional profile and therapeutic properties. Its high moisture content, however, promotes the growth of bacteria, molds, and yeast during storage commonly result in product degradation. Therefore, the aim of this study is to assess the effectiveness of gamma irradiation (GI) and ozone (OZ) as bee pollen preservation methods for longer storage time, as well as whether they are influenced by pollen species. To do that, GI at a dosage of 2.5, 5.0, and 7.5 kGy was applied at a rate of 0.68 kGy/h and OZ application at a concentration of 0.01, 0.02, and 0.03 g/m3 was applied for one time for 6 h, to Egyptian clover and maize bee pollen, then stored at ambient temperature for 6 months. We then determined the total phenolic content (TPC) and antioxidant activity of treated and non-treated pollen samples at 0, 3, and 6 months of storage. Total bacteria, mold, and yeast count were also evaluated at 0, 2, 4, and 6 months. Statistical analyses revealed that, TPC, antioxidant, and microbial load of both clover and maize pollen samples were significantly (p < 0.05) affected by both treatment and storage time and their interaction. Both methods were extremely effective at preserving the antioxidant properties of pollen samples after 6 months of storage at room temperature. Furthermore, the highest concentrations of both GI and OZ applications completely protected pollen samples from mold and yeast while decreasing bacterial contamination. GI at the highest dose (7.5 KGy) was found to be more effective than other GI doses and OZ application in preserving biologically active compounds and lowering the microbial count of pollen samples for 6 months. As a result, we advise beekeepers to use GI at this dose for longer-term storage.

Time and Risk Factors of Trauma-Related Mortality: A 5-Year Retrospective Analysis From a National Level I Trauma Center.

Background: We aimed to analyze in-hospital timing and risk factors for mortality in a level 1 trauma center. Methods: This is a retrospective analysis of all trauma-related mortality between 2013 and 2018. Patients were divided and analyzed based on the time of mortality (early (≤48 h) vs late (>48 h)), and within different age groups. Multivariate regression analysis was performed to predict in-hospital mortality. Results: 8624 trauma admissions and 677 trauma-related deaths occurred (47.7% at the scene and 52.3% in-hospital). Among in-hospital mortality, the majority were males, with a mean age of 35.8 ± 17.2 years. Most deaths occurred within 3-7 days (35%), followed by 33% after 1 week, 20% on the first day, and 12% on the second day of admission. Patients with early mortality were more likely to have a lower Glasgow coma scale, a higher shock index, a higher chest and abdominal abbreviated injury score, and frequently required exploratory laparotomy and massive blood transfusion (P < .005). The injury severity scores and proportions of head injuries were higher in the late mortality group than in the early group. The severity of injuries, blood transfusion, in-hospital complications, and length of intensive care unit stay were comparable among the age groups, whereas mortality was higher in the age group of 19 to 44. The higher proportions of early and late in-hospital deaths were evident in the age group of 24 to 29. In multivariate analysis, the shock index (OR 2.26; 95%CI 1.04-4.925; P = .04) was an independent predictor of early death, whereas head injury was a predictor of late death (OR 4.54; 95%CI 1.92-11.11; P = .001). Conclusion: One-third of trauma-related mortalities occur early after injury. The initial shock index appears to be a reliable hemodynamic indicator for predicting early mortality. Therefore, timely hemostatic resuscitation and appropriate interventions for bleeding control may prevent early mortality.

Dexmedetomidine in Fluoroscopic Guided Splanchnic Nerve Neurolysis for Pain Control: A Randomized, Controlled Trial.

BACKGROUND: Splanchnic nerve neurolysis (SNN) shows beneficial effects in reducing malignancy-associated refractory abdominal pain. Using adjuvants, such as dexmedetomidine to improve the pain was studied. OBJECTIVE: To detect any role of dexmedetomidine as an additive to local anesthetics with an alcohol injection in the chemical SNN process to improve pain in patients having upper-abdominal cancer. STUDY DESIGN: Double-blinded, prospective randomized study. SETTING: Department of Anesthesia and Intensive Care, faculty of medicine, Minia University,Egypt. METHODS: Forty patients with upper-abdominal malignancy-associated refractory abdominal pain underwent fluoroscopic guided SNN were divided into 2 groups. The SNN was performed by using 1.5 mL lidocaine 1%, dexmedetomidine 2 µg/kg, and then an injection of 4.5 mL of ethanol 96% on each side in group D and without dexmedetomidine in group C is done. Patients gave the score of abdominal pain expressed by the Visual Analog Scale (VAS), which measures the pain intensity. Scors were recorded prior to injection, during injection, after injection by 5 min, and after 2, 6, 12, 24, 72 hours, one week (W), 2 W, one month (M), and 2 M. Also, we recorded the amount of morphine required to relieve the residual pain after injection, the effect of procedure on quality of life (QOL), and any complication after injection. RESULTS: VAS scores showed a significant increase in group C in comparison to group D during injection, after injection by 5 min, 2, 6, 12, 24 hours, one and 2 months (P < 0.0001, 0.0001, 0.029, 0.031, 0.025, 0.040, 0.020, 0.015), respectively. The morphine requirement was significantly increased at one W, one M, and 2 M in group C in comparison to Group D (P < 0.044, 0.017, 0.033) with no significant change in the QOL observed between groups. LIMITATIONS: The limitations of this study were a relatively small sample size and short period of follow-up. CONCLUSIONS: This study revealed that using dexmedetomidine in the chemical SNN process improves the pain results from injection of alcohol and refractory cancer related pain with reduction in the consumption of morphine in patients with upper-abdominal malignancy.

Cross-education effects on shoulder rotator muscle strength and function after shoulder stabilization surgery: a randomized controlled trial.

HYPOTHESIS: This study aimed to investigate the effects of cross education (CE) on rotator cuff (RC) muscle strength recovery and shoulder function in patients who underwent arthroscopic anterior shoulder stabilization surgery. METHODS: Twenty-eight patients who underwent shoulder stabilization surgery were included in the study (age, 25 ± 6 years; body mass index, 24.8 ± 3.6 kg/m2). The patients were randomly divided into either the CE group (n = 14) or the control group (n = 14). All patients received a standardized rehabilitation program until the end of the 12th postoperative week. The CE group also received isokinetic training of the nonoperative shoulder focusing on the RC muscles (twice a week, 3 sets of 10 repetitions). RC muscle strength was measured preoperatively and at 3 and 6 months postoperatively using an isokinetic dynamometer at 60°/s and 180°/s angular velocities. Shoulder function was assessed with the Closed Kinetic Chain Upper Extremity Stability Test and Y-Balance Test-Upper Quarter. Analyses of covariance were used for the statistical analyses. RESULTS: At 6 months postoperatively, at 60°/s angular velocity, there was higher internal rotator strength in the CE group (P = .02) and similar external rotator strength (P = .62) between the groups. At 180°/s angular velocity, both internal rotator strength (P = .04) and external rotator strength (P = .02) were higher in the CE group. The Closed Kinetic Chain Upper Extremity Stability Test (P = .47), Y-Balance Test-Upper Quarter (P = .95), and Western Ontario Shoulder Instability Index (P = .12) scores were similar between the groups at 6 months after surgery. CONCLUSIONS: CE in the early period of postoperative rehabilitation following stabilization surgery improves RC strength recovery. However, it has no effect on functional outcomes. Integrating a CE program into the postoperative rehabilitation protocol may help to improve dynamic shoulder stability but not functional capacity.

Vision-related quality of life among patients with keratoconus: a cross sectional study.

Purpose: The present study aimed to evaluate the quality of life of keratoconus patients residing in Nablus city, Palestine. Furthermore, we investigated the possible correlation between Pentacam topographic indices and the quality of life of patients with keratoconus. Methods: This cross-sectional study evaluated keratoconus patients at An-Najah University Hospital in 2019, diagnosed through clinical examination and corneal tomography. A control group was randomly selected from non-keratoconus patients with normal tomography. The NEI-VFQ-25 questionnaire was administered during face-to-face interviews to compare both groups. NEI-VFQ-25 assesses vision-related quality of life and is a validated tool. Results: Keratoconus patients' quality of life is significantly impacted, mainly in near and distant vision, general vision, mental health, and social health, but not in general health, ocular pain, color vision, role difficulties, or dependency. Visual acuity is significantly affected in both eyes of keratoconus patients. Conclusion: Patients with keratoconus exhibit a decreased quality of life related to vision, with physical, emotional, and social impairments demonstrated by the NEI-VFQ-25 when compared to controls. Since keratoconus patients are typically young adults in their productive years, understanding their concerns about their future is an important public health aspect that can aid in modifying their treatments. By addressing the specific needs of this patient population, healthcare providers can better support their long-term well-being and quality of life.

Recovery of the shoulder kinematics after reverse shoulder arthroplasty.

BACKGROUND: There is very limited information about the changes in shoulder kinematics in patients with reverse shoulder arthroplasty. The aim of the study was to investigate the changes in the scapulohumeral rhythm and shoulder kinematics over time after the reverse shoulder procedure. METHODS: Nineteen patients with reverse shoulder arthroplasty (age: 65.8 ± 10.3 years) were included to the study. During arm elevation in the sagittal and scapular planes, operated shoulder kinematics (humerothoracic elevation, glenohumeral elevation, scapulohumeral rhythm, and scapular rotations) were assessed using an electromagnetic tracking system at the postoperative 3rd, 6th, and 18th months. Asymptomatic shoulder kinematics were also assessed at the postoperative 18th month. Shoulder function was assessed using The Disabilities of the Arm Shoulder and Hand score at the postoperative 3rd, 6th, and 18th months. FINDINGS: Maximum humerothoracic elevation increased from 98° to 109° over the postoperative period (p = 0.01). The scapulohumeral rhythm was similar on the operated and asymptomatic shoulders at the final follow-up (p = 0.11). Both the operated and asymptomatic shoulder demonstrated similar scapular kinematics at the postoperative 18th month (p > 0.05). The Disabilities of the Arm Shoulder and Hand score decreased over time in the postoperative period (p < 0.05). INTERPRETATION: Shoulder kinematics may be improved after reverse shoulder arthroplasty in the postoperative period. Focusing on scapular stabilization and deltoid muscle control in the postoperative rehabilitation program may enhance the shoulder kinematics and upper extremity function.

Effects of Different Frequencies of Physical Therapy Visits on Shoulder Function After Arthroscopic Rotator Cuff Repair.

OBJECTIVE: There is no consensus about the optimal frequency of patient visits during the rehabilitation program after arthroscopic rotator cuff repair (ARCR). This study aimed to investigate the short- and long-term effects of high-frequency (HF) and low-frequency (LF) visits of the patients in the first 12 weeks of rehabilitation after ARCR. METHODS: This was a quasi-randomized study with 2 parallel groups. Forty-seven patients with ARCR were included in 2 different patient visit frequency protocols (HF = 23, LF = 24) in 12 weeks of postoperative rehabilitation. Patients in the HF group visited the clinic twice a week, whereas patients in the LF group visited once every 2 weeks for the first 6 weeks and once a week for the following 6 weeks. Both groups performed the same exercise protocol. Outcome measurements were pain and range of motion measured at baseline; at the 3rd, 5th, 8th, 12th, and 24th weeks; and at 1-year follow-up. Shoulder function was assessed at the 12th and 24th weeks and at 1-year follow-up with an American Shoulder and Elbow Surgeons score. RESULTS: There was a significant group × time interaction in pain intensity during the activity between the groups. The activity pain intensity was higher in the LF group (4.2 points) at 8 weeks post surgery than in the HF group (2.7 points) (mean difference: 1.5 points, P < .05), whereas it was similar in both groups at other time periods. The interaction term was not significant between the groups for pain intensity during rest and night through the 1-year follow-up. No group × time interactions were observed in shoulder range of motion and American Shoulder and Elbow Surgeons score over the postoperative period. CONCLUSION: Both rehabilitation programs at different visit frequencies after ARCR showed similar clinical results in the long term. A supervised, controlled rehabilitation program with LF visits in the first 12 weeks after surgery can be sufficient to achieve optimal clinical results and reduce rehabilitation-related costs after ARCR. IMPACT: This study highlights that LF treatment protocols under the supervision of the therapist can be adopted after the arthroscopic rotator cuff repair to achieve successful results while decreasing the treatment costs. Physical therapists should plan the treatment sessions efficiently for the compliance of the patients to the exercise treatment. LAY SUMMARY: If you are a patient with arthroscopic rotator cuff repair, a supervised, controlled rehabilitation program with low-frequency visits in the first 12 weeks after surgery could help you achieve the best outcome and help lower the costs of rehabilitation. A total of 3 visits in the first 6 weeks might be sufficient (once every 2 weeks). More frequent visits (1-2 visits a week) should happen 6 to 12 weeks after the surgery.

Functional Performance Tests Reveal Promising Results at 6 Months After Shoulder Stabilization Surgery.

BACKGROUND: Although athletes are mostly allowed to return to play 6 months after shoulder stabilization surgery, there are inadequate data about their functional status during this period. HYPOTHESES: Performance tests would reveal insufficiency in the functional capacity of shoulder 6 months after stabilization surgery. STUDY DESIGN: Prospective cohort study. LEVEL OF EVIDENCE: Level 3. METHODS: A total of 32 male athletes with arthroscopic anterior capsulolabral repair (AACR) were included in the study. Shoulder internal and external rotator (IR-ER) strength was assessed using isokinetic dynamometer at 60°/s and 180°/s angular velocities preoperatively and 6 months postoperatively. Shoulder function was assessed with closed kinetic chain upper extremity stability (CKCUES) test, Y balance test-upper quarter (YBT-UQ), and unilateral seated shot-put test (USSPT) at 6 months postoperation. Western Ontario shoulder instability index (WOSI) and Tampa scale of kinesiophobia (TSK) were used for the self-assessment of the shoulder. Mixed-model ANOVA was used to analyze the changes in the IR-ER strength on both shoulders. Limb symmetry index (LSI) was calculated for the IR-ER strength, YBT-UQ, and USSPT scores. RESULTS: Shoulder IR strength was higher at 6 months postoperatively compared with preoperatively. The LSI was 76.4% and 76.6% for ER strength, and 94.2% and 94% for IR strength at 60°/s and 180°/s angular velocities, respectively, at the postoperative 6 month timepoint. The mean CKCUES test score was 21.8 ± 2.6 touches and the LSI was 94.7% for the YBT-UQ and 102.5% for the USSPT. WOSI (P < 0.001) and TSK (P = 0.001) scores were significantly lower at 6 months postoperatively. CONCLUSION: Functional status of the patients with shoulder stabilization surgery improved considerably 6 months after surgery, yet they did not fully recover function. CLINICAL RELEVANCE: Exercise programs focusing on shoulder ER strength and shoulder performance should be emphasized after stabilization surgery.

A probabilistic approach for power cable cross section area selection: Most economic design by computer aided.

This study presents a practical computer-based design program for a power cable network called "Power Cables Graphical User Interface" (PCGUI). This program is mainly for academic education, consulting electrical designers, primary engineers, and technical personnel with open-source code and a simple user interface. As a low/medium-voltage cable selection program, PCGUI will represent an essential part of the design for any electrical system, including different and complex analytic procedures based on various international standards ("IEEE, IEC, BS, NEC, NPFA 70, and local applied country standards."). A MATLAB PCGUI program gives a new method to analyze and identify the optimized cable design depending on huge numbers of MATLAB script files and data appropriate for different factors and conditions. These factors and conditions include the type of insulation, temperature factor, grouping factor, accepted voltage drop, cable lifetime costs, etc. PCGUI is easily accomplished with the least effort and provides a fast and economical design with very high accuracy through limited manual input steps. After executing the program, the obtained results will contain the complete economic cable design, the circuit breaker standard rating and type, the actual cable current loading, the actual voltage drop, and the primary and the most economic cable cross-section area "CSA" based on the cost analysis.

Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.

We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.Global developmental delay is a common presentation to general paediatric and community paediatric clinics. This prompts the search for an aetiology to describe the child's constellation of symptoms which often consists of a chromosomal microarray, neuroimaging and investigations for an inborn error of metabolism. With developments in genetic testing such as the reducing cost of clinical exome sequencing or whole-exome sequencing, could these testing strategies offer a more comprehensive first line test?This case not only demonstrates the features of cardiofaciocutaneous syndrome type 3 but the added value of modern genetic technologies in the diagnosis of children with global developmental delay.

Targeting the Complement Cascade for Treatment of Dry Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in the elderly population. AMD is characterized in its late form by neovascularization (wet type) or geographic atrophy of the retinal pigment epithelium cell layer (dry type). Regarding the latter type, there is growing evidence supporting an association between the pathophysiology of dry AMD and key proteins in the complement cascade. The complement cascade works as a central part of the innate immune system by defending against foreign pathogens and modified self-tissues. Through three distinct pathways, a series of plasma and membrane-associated serum proteins are activated upon identification of a foreign entity. Several of these proteins have been implicated in the development and progression of dry AMD. Potential therapeutic targets include C1q, C3, C5, complement factors (B, D, H, I), membrane attack complex, and properdin. In this review, we provide an understanding of the role of the complement system in dry AMD and discuss the emerging therapies in early phase clinical trials. The tentative hope is that these drugs may offer the potential to intervene at earlier stages in dry AMD pathogenesis, thereby preventing progression to late disease.

Translation, cross-cultural adaptation, and validation of the Turkish version of the shoulder instability-return to sport (SI-RSI) after injury scale.

To translate and culturally adapt the shoulder instability-return to sport after injury (SI-RSI) scale into Turkish (SI-RSI-Tr) and examine the psychometric properties of the Turkish version of athletes following a traumatic shoulder instability. The SI-RSI was translated into Turkish using Beaton guidelines. Sixty-nine patients with shoulder instability completed the translated SI-RSI, Western Ontario Shoulder Instability Index (WOSI), the Tampa Scale of Kinesiophobia (TSK), and the Walch-Duplay Scores. We analysed the internal consistency, agreement, reliability, and validity of the SI-RSI-Tr. The SI-RSI-Tr demonstrated excellent internal consistency (Cronbach's alpha = 0.92), test-retest reliability (ICC = 0.95), and feasibility with no ceiling or floor effect. SI-RSI-Tr correlated with WOSI total score (r = -0.824, p < 0.001), its subscales: WOSI-physical (r = -0.683, p < 0.001), WOSI-sports (r = -0.832, p < 0.001), WOSI-lifestyle (r = -0.739, p < 0.001), and WOSI-emotions (r = -0.734, p < 0.001) respectively), Walch-Duplay (r = 0.840, p < 0.001) and TSK (r = -0.828, p < 0.001) scores. The Turkish SI-RSI is a reliable, internally consistent, and valid tool for athletes with shoulder instability. Researchers and clinicians could safely use the SIRSI-Tr to evaluate the shoulder-specific psychological factors on return to sports following an episode of shoulder instability.

Telehealth application in Sudan: requirements and potential benefits.

Telehealth (TH) is defined as the entire spectrum of activities used to deliver care remotely. It could either be provider-to-patient or provider-to-provider communications. TH can take place synchronously (via telephone and video), asynchronously (via patient portal messages, e-consults), and through virtual agents (chat) and wearable devices. It has been used to support access to specialised medical advice in remote areas in many countries all over the world. We discuss the potential use of TH Clinics in Sudan and propose guidance for establishing such services. The current pandemic of SARS-COVID-19 has increased the pressure on most health systems. This has challenged and urged for significant changes in the way we provide health care for both COVID and non-COVID cases. There is a great potential for improvement in services in many countries including Sudan with the use of TH.

Gender Discrepancy in Patients with Traumatic Brain Injury: A Retrospective Study from a Level 1 Trauma Center.

Objectives: The objective of this study is to explore the gender discrepancy in patients with traumatic brain injury (TBI). Methods: A retrospective analysis of Qatar Trauma Registry (QTR) was conducted among patients (age ≥14y) who were hospitalized with TBI. Data were collected and analyzed based on the gender and age. Results: Over 5 years (2014-2019), 9, 309 trauma patients (90% males and 10% females) were admitted to the trauma center. Of these, 1, 620 (17.4%) patients were hospitalized with TBI (94% males and 6% females). Motor vehicle crash was the main mechanism of injury (MOI) in females, and fall from height was predominant among males. Subdural hematoma (SDH) was the more frequent type of TBI in both genders, but it was more prevalent in male patients ≥55 years. Injury severity score, Glasgow coma scale, and head abbreviated injury score were comparable between males and females. The length of stay in the ICU and hospital and mortality were similar in both genders. However, mortality was higher among males ≥55 years when compared to 14-54 years within the same gender (21% vs. 12%, p = 0.002). The crude and adjusted odds ratio did not show that gender is a significant predictor of mortality among TBI patients. Conclusions: Although the incidence and MOI of TBI show significant differences between male and female patients, the severity and outcomes are comparable.

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Background: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90% of SDS patients have pathogenic variants in SBDS, the first gene associated with the disease with very low allelic heterogeneity; three variants, derived from events of genetic conversion between SBDS and its pseudogene, SBDSP1, provided the alleles observed in about 62% of SDS patients. Methods: We performed a reanalysis of the available WES files of a group of SDS patients with biallelic SBDS pathogenic variants, studying the results by next bioinformatic and protein structural analysis. Parallelly, careful clinical attention was given to the patient focused in this study. Results: We found and confirmed in one SDS patient a germline heterozygous missense variant (c.100T>C; p.Phe34Leu) in the EIF6 gene. This variant, inherited from his mother, has a very low frequency, and it is predicted as pathogenic, according to several in silico prediction tools. The protein structural analysis also envisages the variant could reduce the binding to the nascent 60S ribosomal. Conclusion: This study focused on the hypothesis that the EIF6 germline variant mimics the effect of somatic deletions of chromosome 20, always including the locus of this gene, and similarly may rescue the ribosomal stress and ribosomal dysfunction due to SBDS mutations. It is likely that this rescue may contribute to the stable and not severe hematological status of the proband, but a definite answer on the role of this EIF6 variant can be obtained only by adding a functional layer of evidence. In the future, these results are likely to be useful for selected cases in personalized medicine and therapy.

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90% of patients. The clinical spectrum of SDS in patients is wide, and variability has been noticed between different patients, siblings, and even within the same patient over time. Herein, we present two SDS siblings (UPN42 and UPN43) carrying the same SBDS mutations and showing relevant differences in their phenotypic presentation. Study aim. We attempted to understand whether other germline variants, in addition to SBDS, could explain some of the clinical variability noticed between the siblings. Methods. Whole-exome sequencing (WES) was performed. Human Phenotype Ontology (HPO) terms were defined for each patient, and the WES data were analyzed using the eVai and DIVAs platforms. Results. In UPN43, we found and confirmed, using Sanger sequencing, a novel de novo variant (c.10663G > A, p.Gly3555Ser) in the KMT2A gene that is associated with autosomal-dominant Wiedemann−Steiner Syndrome. The variant is classified as pathogenic according to different in silico prediction tools. Interestingly, it was found to be related to some of the HPO terms that describe UPN43. Conclusions. We postulate that the KMT2A variant found in UPN43 has a concomitant and co-occurring clinical effect, in addition to SBDS mutation. This dual molecular effect, supported by in silico prediction, could help to understand some of the clinical variations found among the siblings. In the future, these new data are likely to be useful for personalized medicine and therapy for selected cases.

Clinical and Molecular Characteristics of Diabetic Retinopathy and Its Severity Complications among Diabetic Patients: A Multicenter Cross-Sectional Study.

BACKGROUND: Diabetic retinopathy (DR) is a complication associated with uncontrolled DM. It is a leading preventable cause of visual impairment in the world and a cause of blindness in those under 75 years old in developing countries. We aimed to explore the prevalence and associated risk factors of DR among diabetic patients in the West Bank. MATERIALS AND METHODS: A quantitative multicenter cross-sectional study was conducted in all West Bank cities. Nearly, 385 patients underwent a comprehensive eye examination in addition to blood and urine tests. A previously validated questionnaire for ocular examination classification was used together with a socio-demographic and past medical history information sheet. RESULTS: The prevalence of all DR in the West Bank was 41.8%. The prevalence of non-proliferative diabetic retinopathy (NPDR) was 50.3% (38.5% for mild NPDR, 10.6% for moderate NPDR and 1.2% for severe NPDR). The prevalence of proliferative diabetic retinopathy (PDR) was 9.9% and 39.7% for diabetic macular edema (DME) (17.4% for mild, 15.5% for moderate and 6.8% for severe DME). The prevalence of vision-threatening PDR and DME was 49.7% for both. In a univariate analysis, DR was significantly associated with body mass index; BMI (p = 0.035), DM duration (p = 0.002), Low-density lipoprotein (LDL) (p = 0.034), glutamic-oxaloacetic transaminase (GOT) level (p = 0.016) andblood urea (BU) (p = 0.044). A multivariate analysis showed a strong significant association between DR andpatients who had DM for 10-19years (adjusted odds ratio; AOR (95%CI); 1.843 (1.05-3.22)), abnormal levels of LDL (AOR (95%CI); 0.50 (0.30-0.83)), abnormal levels of GOT (AOR (95%CI); 0.49 (0.27-0.89)), and overweight (AOR (95%CI); 0.39 (0.19-0.80)). CONCLUSIONS: We found that the prevalence of DR in Palestine was higher than the global prevalence. Referral coordination between ophthalmologists and internal physicians is necessary to better follow up with DR patients. An interventional educational program by clinicians and public health professionals is recommended.

Effect of Chitosan Nanoparticles as Edible Coating on the Storability and Quality of Apricot Fruits.

Apricots are a fragile fruit that rots quickly after harvest. Therefore, they have a short shelf-life. The purpose of this work is to determine the effect of coatings containing chitosan (CH) as well as its nanoparticles (CHNPs) as thin films on the quality and shelf-life of apricots stored at room (25 ± 3 °C) and cold (5 ± 1 °C) temperatures. The physical, chemical, and sensorial changes that occurred during storage were assessed, and the shelf-life was estimated. Transmission electron microscopy was used to examine the size and shape of the nanoparticle. The nanoparticles had a spherical shape with an average diameter of 16.4 nm. During the storage of the apricots, those treated with CHNPs showed an obvious decrease in weight loss, decay percent, total soluble solids, and lipid peroxidation, whereas total acidity, ascorbic acid, and carotenoid content were higher than those in the fruits treated with CH and the untreated fruits (control). The findings of the sensory evaluation revealed a significant difference in the overall acceptability scores between the samples treated with CHNPs and the other samples. Finally, it was found that CHNP coatings improved the qualitative features of the apricots and extended their shelf-life for up to 9 days at room temperature storage and for 30 days in cold storage.