Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

BACKGROUND: Hepatocellular carcinoma (HCC) is the most common primary liver cancer. Chronic hepatitis and liver cirrhosis lead to accumulation of genetic alterations driving HCC pathogenesis. This study is designed to explore genomic landscape of HCC in Egyptian patients by whole exome sequencing. METHODS: Whole exome sequencing using Ion Torrent was done on 13 HCC patients, who underwent surgical intervention (7 patients underwent living donor liver transplantation (LDLT) and 6 patients had surgical resection}. RESULTS: Mutational signature was mostly S1, S5, S6, and S12 in HCC. Analysis of highly mutated genes in both HCC and Non-HCC revealed the presence of highly mutated genes in HCC (AHNAK2, MUC6, MUC16, TTN, ZNF17, FLG, MUC12, OBSCN, PDE4DIP, MUC5b, and HYDIN). Among the 26 significantly mutated HCC genes-identified across 10 genome sequencing studies-in addition to TCGA, APOB and RP1L1 showed the highest number of mutations in both HCC and Non-HCC tissues. Tier 1, Tier 2 variants in TCGA SMGs in HCC and Non-HCC (TP53, PIK3CA, CDKN2A, and BAP1). Cancer Genome Landscape analysis revealed Tier 1 and Tier 2 variants in HCC (MSH2) and in Non-HCC (KMT2D and ATM). For KEGG analysis, the significantly annotated clusters in HCC were Notch signaling, Wnt signaling, PI3K-AKT pathway, Hippo signaling, Apelin signaling, Hedgehog (Hh) signaling, and MAPK signaling, in addition to ECM-receptor interaction, focal adhesion, and calcium signaling. Tier 1 and Tier 2 variants KIT, KMT2D, NOTCH1, KMT2C, PIK3CA, KIT, SMARCA4, ATM, PTEN, MSH2, and PTCH1 were low frequency variants in both HCC and Non-HCC. CONCLUSION: Our results are in accordance with previous studies in HCC regarding highly mutated genes, TCGA and specifically enriched pathways in HCC. Analysis for clinical interpretation of variants revealed the presence of Tier 1 and Tier 2 variants that represent potential clinically actionable targets. The use of sequencing techniques to detect structural variants and novel techniques as single cell sequencing together with multiomics transcriptomics, metagenomics will integrate the molecular pathogenesis of HCC in Egyptian patients.

Isolated unilateral ptosis as a complication of sinusitis: A case report and literature review.

Key Clinical Message: Ptosis associated with rhinosinusitis may indicate orbital or cavernous sinus involvement, typically accompanied by various other symptoms. However, isolated ptosis is a rare occurrence. This explains the diverse treatment approaches found in this literature review, ranging from conservative management to surgery. Imaging plays a crucial role in diagnosis and treatment planning. Abstract: Isolated upper lid ptosis is a rare manifestation of acute rhinosinusitis, typically occurring without other neuro-ophthalmological or orbital signs. This report presents a case of unilateral isolated ptosis in an adult male with acute rhinosinusitis. A 30-year-old male with asthma and bipolar disorder, and recent intranasal drug use, presented with nasal congestion, facial pressure, headache, and left eye droopiness. Neurological examination found left ptosis as the only abnormality. Lab results were normal, and COVID-19 PCR was negative. Imaging showed pansinusitis without complications. The patient received IV antibiotics and steroids, followed by oral antibiotics and steroids. Ptosis resolved within 3 days and did not recur at three-month follow-up. Only seven cases of isolated ptosis with rhinosinusitis have been reported, all in males, most recovering with medical therapy alone. This is the first case treated with high-dose steroids in addition to antibiotics. Isolated ptosis may be due to inflammation of the oculomotor nerve's distal branch or related muscular structures. Isolated ptosis in rhinosinusitis has a favorable prognosis. Imaging is crucial to exclude severe complications. The role of steroids needs further evaluation, and the timing for considering surgery remains to be defined.

Experiences of Multiple Myeloma Patients With Treatment in the Palestinian Practice: A Multicenter Qualitative Study in a Resource-Limited Healthcare System.

Background Multiple myeloma is a crippling cancer that puts a significant strain on patients and their families alike. The long and exhausting treatment journey with the disease is challenging not only for patients but also for healthcare systems. This exploratory study was conducted to look into these patients' experiences with their treatment and explore their recommendations and views to improve the Palestinian healthcare system, which can be viewed as an evolving healthcare system within a resource-limited and developing country. Methods The consolidated criteria for reporting qualitative research (COREQ) checklist was used for conducting this multicenter exploratory qualitative study. A total number of eight patients with multiple myeloma who received treatment in the Palestinian healthcare system participated in semi-structured in-depth interviews. The semi-structured in-depth interviews followed a set interview schedule. Thematic analysis of the data was done using the qualitative interpretive description approach. Results A total of 5.48 h (329 min) of total interview time was analyzed. Among the patients, 6 (75%) were males, 5 (63.5%) lived in urban areas, 5 (62.5%) reported satisfaction with their household income, 6 (75%) underwent bone marrow transplantation, and all of them (100%) had governmental insurance. The qualitative data that emerged after analysis were classified into three major themes and multiple sub-themes. The three major themes were: (1) treatment side effects, (2) factors affecting treatment experience, and (3) recommendations to improve healthcare service. Conclusion The results of this qualitative study offer insight into how people with multiple myeloma view the healthcare system in Palestine and shed light on the variable and challenging experiences with their treatment, side effects, and communication with healthcare providers within the context of a resource-limited and developing country. Future research should involve hemato-oncology doctors and benefit from their expertise in the field.

Interactions between arm and leg neuronal circuits following paired cervical and lumbosacral transspinal stimulation in healthy humans.

Transspinal (or transcutaneous spinal cord) stimulation is a promising noninvasive method that may strengthen the intrinsic spinal neural connectivity in neurological disorders. In this study we assessed the effects of cervical transspinal stimulation on the amplitude of leg transspinal evoked potentials (TEPs), and the effects of lumbosacral transspinal stimulation on the amplitude of arm TEPs. Control TEPs were recorded following transspinal stimulation with one cathode electrode placed either on Cervical 3 (21.3 ± 1.7 mA) or Thoracic 10 (23.6 ± 16.5 mA) vertebrae levels. Associated anodes were placed bilaterally on clavicles or iliac crests. Cervical transspinal conditioning stimulation produced short latency inhibition of TEPs recorded from left soleus (ranging from - 6.11 to -3.87% of control TEP at C-T intervals of -50, -25, -20, -15, -10, 15 ms), right semitendinosus (ranging from - 11.1 to -4.55% of control TEP at C-T intervals of -20, -15, 15 ms), and right vastus lateralis (ranging from - 13.3 to -8.44% of control TEP at C-T intervals of -20 and - 15 ms) (p < 0.05). Lumbosacral transspinal conditioning stimulation produced no significant effects on arm TEPs. We conclude that in the resting state, cervical transspinal stimulation affects the net motor output of leg motoneurons under the experimental conditions used in this study. Further investigations are warranted to determine whether this protocol may reactivate local spinal circuitry after stroke or spinal cord injury and may have a significant effect in synchronization of upper and lower limb muscle synergies during rhythmic activities like locomotion or cycling.

In Situ Electrochemical Cobalt Doping in Perovskite-Structured Lanthanum Nickelate Thin Film Toward Energy Conversion Enhancement of Polymer Solar Cells.

This study demonstrates that the electrochemical doping of lanthanum nickelate (LNO) with cobalt ions is a promising strategy for enhancing its physical and electrochemical properties, which are critical for energy storage and conversion devices. LNO emerges as a promising hole transport layer (HTL) in solar cells due to its stability, large band gap, and high transparency. Nevertheless, its low conductivity and improperly aligned band positions are persistent problems. Here, in a pioneering endeavor, Co-doped LNO thin films were synthesized electrochemically and applied as the HTL in polymer solar cells (PSCs). Characterization revealed the impact of Co doping on the electrochemical, structural, morphological, and optical properties of LNO thin films. Depending on the Co doping level, PSCs based on 10 mol % Co-doped LNO outperformed pure LNO, achieving a champion efficiency of 6.11% with enhanced short-circuit current density (12.84 mA cm-2), fill factor (68%), open-circuit voltage (0.70 V), and external quantum efficiency (82.6%). This enhancement resulted from decreased series resistance, refined surface morphology, minimized trap-assisted recombination, enhanced conductivity, increased charge carrier production, favorable energy level alignment, and improved current extraction facilitated by LNC0.10O HTL. Moreover, the unencapsulated PSC-LNC0.10O long-term stability notably improved and retained 86% of its initial PCE after 450 h storage in ambient air, 82% after being continuously heated to 85 °C for 300 h, and 80% after operating at maximum power point for 300 h. These findings offer a straightforward approach to enhancing PSC performance through Co doping of LNO, supported by density functional theory (DFT) calculations that validate the experimental results and confirm the improvement in optical properties and stability of PSCs as an HTL.

First experiences with automated annular suturing device in totally endoscopic aortic and mitral valve replacement.

OBJECTIVES: To overcome some of the challenges of endoscopic minimally invasive valve surgery, an automated annular suturing device has been used in aortic and mitral valve replacement surgeries. The current study investigates early clinical outcomes of patients who received aortic or mitral valve replacement with the help of the RAM® device as first experiences in minimally invasive valve surgery. METHODS: Between September 2020 and June 2023, 66 consecutive patients (mean age 61.8 ± 11 years) underwent endoscopic minimally invasive aortic or mitral valve replacement through right anterior mini-thoracotomy at 2 cardiac surgery referral centres in Germany. The RAM® device was used in all Patients. 3.5 and 5.0 sizes were used in 16.7% and 83.3% of patients, respectively. Aortic, mitral and double valve surgery was performed in 81.8%, 15.2% and 1.5% of patients, respectively. Clinical data were prospectively entered into our institutional database. RESULTS: Cardiopulmonary bypass time and cross-clamping time were 97.9 ± 20.9 and 66 ± 15.7 min, respectively. Intensive care unit and hospital stays were 1 [1-2] and 9 [7-13] days, respectively. No paravalvular leak and no other intraoperative complications occurred. 30-day and in-hospital mortality were zero. Conversion to sternotomy occurred in 1 (1.5%) patient due to bleeding. CONCLUSIONS: The usage of the RAM® device is a safe, feasible and effective approach to the endoscopic implantation of aortic or mitral valves and yield excellent early outcomes. Larger size studies are needed to evaluate the efficacy and safety of RAM® device.

Comparison of Two Surgical Approaches for Coronary Artery Bypass of Left Anterior Descending Artery.

Background/Objectives: The minimally invasive approach through left mini-thoracotomy is a promising alternative to the median sternotomy for coronary artery bypass. The aim of this study was to compare the short-term outcomes of patients undergoing minimally invasive coronary artery bypass (MIDCAB) with off-pump coronary artery bypass through sternotomy (OPCAB) for single-vessel disease. Methods: From January 2017 to February 2023, 377 consecutive patients aged above 18 years undergoing off-pump bypass of the left anterior descending artery (LAD) with left internal thoracic artery underwent OPCAB. Propensity score matching was then applied. Primary endpoints were in-hospital mortality and 30-day mortality. Results: Prior to matching, 30-day mortality occurred in 2 (0.7%) patients in the MIDCAB group vs. 1 (1%) patient in the OPCAP group (p = 1). Transfusion of red blood cells (RBC) was required in 9.4% and 29% of patients within the MIDCAB and the OPCAB groups, respectively (p < 0.001). Median intensive care stay (ICU) was 1 [1-2] day in the MIDCAB group, vs. 2 [1-3] in the OPCAB (p < 0.001). In the matched cohort, 10% of MIDCAB patients received RBCs vs. 27.5% of OPCAB patients (p = 0.006). Median ICU stay was significantly lower in the MIDCAB group, 1 [1-2] vs. 2 [1-3] days. Conclusions: MIDCAB is as safe and effective as OPCAB for single coronary artery bypass of the LAD with the LITA in select patients. It is associated with a decreased ICU stay and lower transfusion rates when compared with OPCAB.

Essential principles for blood centrifugation.

Currently, autologous platelet concentrates (APCs) are frequently used for soft- and hard-tissue regeneration, not only within the oral cavity, but also extra-orally including chronic wounds, burns, joints, dermatological conditions, among others. The benefits of APCs are largely influenced by the treatment strategy but also their preparation. This paper therefore discusses in detail: the physical properties of blood cells, the basic principles of blood centrifugation, the impact of the centrifugation protocol (rotations/revolutions per minute, g-force, variation between centrifuges), the importance of timing during the preparation of APCs, the impact of the inner surface of the blood tubes, the use/nonuse of anticoagulants within APC tubes, the impact of the patient's hematocrit, age, and gender, as well as the important requirements for an optimal centrifugation protocol. All these variables indeed have a significant impact on the clinical outcome of APCs.

Multicentre experience of sutureless prostheses inside degenerated stentless aortic valves and bioroots.

OBJECTIVES: Patients with failed stentless aortic prostheses are a challenging population to treat, as reoperative procedures may be complex and catheter-based treatments are associated with a high rate of procedural events. Reoperative surgery using sutureless valves may be an alternative. METHODS: In this multicentre experience, we assess outcomes of 17 patients who underwent reoperative surgery using the Perceval valve (Corcym UK Limited, London, UK) inside Freestyle prosthesis (Medtronic Inc., Dublin, Ireland) or bioroots from 2018 to 2023. RESULTS: Mean age was 71.1 ± standard deviation 15.1 years and mean EuroSCORE II was 13.5 ± 15.8%, Society of Thoracic Surgeons Score was 5.9 ± 11.7%. Mean transvalvular gradient at baseline was 25.3 ± 19.9 mmHg and left ventricular ejection fraction was 53.5 ± standard deviation 8.5%. In 70.6% (12/17), moderate or severe aortic regurgitation was present. Implant success was 100%. Aortic cross-clamp time was 44.5 ± standard deviation 23.6 min. No patient needed a pacemaker and no mild paravalvular regurgitation occurred. Mean gradient was 12.5 ± 4.7 mmHg; 30-day mortality was 5.9% (1/17). CONCLUSIONS: Rate of mortality was lower than predicted by EuroSCORE II in these high-risk patients and haemodynamic outcomes were favourable. Heart teams should consider this treatment concept when discussing patients with failed stentless valves or bioroots.

Unraveling a Rare Case of Epidural Extramedullary Hematopoiesis in a Patient With Transfusion-Dependent Beta Thalassemia Presenting With Spinal Cord Compression.

Thalassemia is known to induce extramedullary hematopoiesis (EMH), which is a compensatory mechanism in which the body forms blood cells outside the bone marrow. While EMH typically affects organs such as the spleen and liver, there are rare instances where it leads to spinal cord compression (SCC) in the epidural space. A 31-year-old male patient with transfusion-dependent beta thalassemia presented with numbness and bilateral limb weakness due to EMH. Neurological examination revealed increased tone in both legs, reduced power, loss of crude touch and pain sensation, and increased deep tendon reflexes. Magnetic resonance imaging (MRI) indicated a lobulated soft tissue structure in the posterior dural intrathecal space causing SCC. Laminectomy of the T2-T8 vertebrae was done, after which the lesion was identified and completely removed. Post-surgery, significant neurological improvements were observed in both motor and sensory functions. Thalassemia patients presenting with symptoms of SCC should be investigated for the presence of epidural EMH. Treatment options include decompressive surgery, blood transfusions, hydroxyurea, and radiotherapy.

Soleus H-reflex amplitude modulation during walking remains physiological during transspinal stimulation in humans.

The soleus H-reflex modulation pattern was investigated during stepping following transspinal stimulation over the thoracolumbar region at 15, 30, and 50 Hz with 10 kHz carry-over frequency above and below the paresthesia threshold. The soleus H-reflex was elicited by posterior tibial nerve stimulation with a single 1 ms pulse at an intensity that the M-wave amplitudes ranged from 0 to 15% of the maximal M-wave evoked 80 ms after the test stimulus, and the soleus H-reflex was half the size of the maximal H-reflex evoked on the ascending portion of the recruitment curve. During treadmill walking, the soleus H-reflex was elicited every 2 or 3 steps, and stimuli were randomly dispersed across the step cycle which was divided in 16 equal bins. For each subject and condition, the soleus M-wave and H-reflex were normalized to the maximal M-wave. The soleus background electromyographic (EMG) activity was estimated as the linear envelope for 50 ms duration starting at 100 ms before posterior tibial nerve stimulation for each bin. The gain was determined as the slope of the relationship between the soleus H-reflex and the soleus background EMG activity. The soleus H-reflex phase-dependent amplitude modulation remained unaltered during transspinal stimulation, regardless frequency, or intensity. Similarly, the H-reflex slope and intercept remained the same for all transspinal stimulation conditions tested. Locomotor EMG activity was increased in knee extensor muscles during transspinal stimulation at 30 and 50 Hz throughout the step cycle while no effects were observed in flexor muscles. These findings suggest that transspinal stimulation above and below the paresthesia threshold at 15, 30, and 50 Hz does not block or impair spinal integration of proprioceptive inputs and increases activity of thigh muscles that affect both hip and knee joint movement. Transspinal stimulation may serve as a neurorecovery strategy to augment standing or walking ability in upper motoneuron lesions.

Case report: Video-assisted minimally invasive mitral and pulmonary valve replacement as reoperation in patient with situs inversus totalis.

Dextrocardia with situs inversus totalis is a rare congenital condition. We report herein a first experience of video-assisted minimally invasive mitral and pulmonary valve replacement through right anterior mini-thoracotomy as reoperation in patient with this complex anomaly. The good clinical and cosmetic results demonstrate that this innovative technique can be safely performed even in difficult anatomical conditions.

The occurrence of some foodborne pathogens recovered from poultry meat in Shahrekord, Iran.

Objective: Arcobacter butzleri, Listeria monocytogenes, Staphylococcus aureus, and Campylobacter jejuni are significant foodborne pathogens regarding the consumption of raw poultry meat. An existing survey was conducted to assess the occurrence of S. aureus, C. jejuni, A. butzleri, and L. monocytogenes in raw poultry meat samples. Materials and Methods: Ninety-four raw ostrich, turkey, chicken, and quail meat samples were collected and subjected to culture-based analysis. Staphylococcus aureus, C. jejuni, A. butzleri, and L. monocytogenes isolates were confirmed by standard biochemical techniques. Results: The occurrence of A. butzleri, C. jejuni, L. monocytogenes, and S. aureus in poultry meat samples was 11.45%, 17.70%, 1.04%, and 16.66%, respectively. L. monocytogenes was absent in chicken, turkey, and ostrich meat samples. Only one quail meat (4.16%) was positive for L. monocytogenes. The uppermost contamination rate with A. butzleri, C. jejuni, and S. aureus was found in chicken (25%), turkey (25%), and turkey (25%) meat samples, respectively. The concurrent occurrence of A. butzleri + C. jejuni + S. aureus bacteria amid the examined poultry meat samples was 2.08%. Conclusion: This is an initial report of A. butzleri, S. aureus, C. jejuni, and L. monocytogenes in poultry meat samples. Adequate cooking of poultry meat can diminish foodborne diseases due to A. butzleri, S. aureus, L. monocytogenes, and C. jejuni bacteria, and these species may constitute a public health problem.

Evolution in the management of vestibular schwannoma: a single-center 15-year experience.

PURPOSE: To highlight the changes in the management of vestibular schwannoma (VS) since 2004 with a focus on small- to middle-size VS. METHODS: Retrospective analysis of the decisions made in skull base tumor board between 2004 and 2021. RESULTS: 1819 decisions were analyzed (average age 59.25, 54% females). Overall, 850 (47%) cases were allocated to a Wait and Scan (WS) approach, 416 (23%) received radiotherapy and 553 (30%) were treated surgically (MS). All stages considered WS increased from 39% before 2010 to 50% after 2010. Similarly, Stereotactic Radio Therapy (SRT) increased from 5 to 18%. MS decreased from 46 to 25%. It was more commonly proposed to younger patients and larger tumors, p < 0.001. For Koos stages 1, 2, and 3 there was a statistically significant increase in SRT, and a decrease in MS, p < 0.001. WS also increased for stages 1 and 2. However, such a trend was not observed for stage 3. MS remained the primary treatment modality for stage 4 tumors throughout the study period, p = 0.057. The significance of advanced age as a factor favoring SRT decreased over time. The opposite is true for serviceable hearing. There was also a decrease in the percentage of the justification "young age" in the MS category. CONCLUSION: The is a continuing trend towards non-surgical treatment. Small- to medium-sized VS witnessed an increase in both WS and SRT. There is only an increase in SRT for moderately large VS. Physicians are less and less considering young age as a factor favoring MS over SRT. There is a tendency towards favoring SRT when hearing is serviceable.

Effects of Health Anxiety, Social Support, and Coping on Dissociation with Mediating Role of Perceived Stress during the COVID-19 Pandemic.

BACKGROUND: Our study aimed to examine whether health anxiety, social support, and ways of coping relate to dissociation directly or only through the mediation of perceived stress, moderated by the time of measurement (lockdown). We investigated the effect of perceived stress on different forms (sub-scales) of dissociation. METHODS: A cross-sectional survey was conducted by an online form at two points in time: the beginning and the later stage of the COVID-19 pandemic. RESULTS: We received a total of 1711 responses. Perceived stress moderately correlated with dissociation in both international and Hungarian samples. Health anxiety showed a strong direct and indirect correlation with dissociation. Regarding social support, the support of family significantly decreased the dissociative experiences in the Hungarian sample mediated by perceived and direct stress. In the international sample, goal-oriented coping strategies strongly decreased all dissociation scales in the first measurement, through the mediation of perceived stress. As for the Hungarian sample, positive thinking was found to decrease dissociation by decreasing perceived stress. CONCLUSION: health anxiety, coping, and social support appeared to influence dissociation directly and through the mediation of perceived stress. Social support, mainly support of the family and problem-focused coping strategies may decrease the level of stress, this way decreasing dissociative behavior.