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Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa

Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients. Patients and Method. In this study, we will take into consideration data from 24 patients diagnosed with type 1 Gaucher disease. We followed them closely for six years in progress. At baseline, all patients started therapy with taliglucerase alfa at a mean dosage of 45 UI/kg; later, during the study, two of them switched their cure toward velaglucerase alfa. Before baseline evaluations, 12 patients had been treated with imiglucerase at variable duration times. At baseline, we performed an X-ray of long bones and the spine, and each year, different standard assessments were performed, such as bone pain, MRI of the vertebral spine and pelvis, and DEXA for bone density. Four patients left the study for various reasons, two of them at baseline and two others during year 3 (FU3). Results. At baseline, we had 8 children and 16 adults. The average age was 28.7 ± 16.5 SD years. The most frequent skeletal manifestations in our patients were reduction of tibial femoral space (40%), osteonecrosis (36%), and body vertebral reduction (32%). At baseline, 15 patients presented with bone pain to different degrees. Over the years, bone pain in our patients had a gradual improvement. The most dramatic bone pain improvement was seen in a patient who presented bone crises. Another impressive finding was a significant BMD improvement during six years of treatment. Our study showed a significant improvement in BMD comparing FU5 and baseline values ( p = 0.0007). Especially children demonstrated a significant improvement in BMD ( p = 0.00061) compared to adults ( p = 0.3673). Mean BMD change was more indicative in switched patients ( p = 0.0142) compared to naïve patients ( p = 0.147). Conclusions. Skeletal manifestations are very different in Gaucher type 1 patients. In our study, as a result of long-term evaluations, it was noticed that the most frequent skeletal manifestation was a reduction of tibiofemoral space. Bone pain has gradually improved in all patients. Also, BMD values have been enhanced over six years of treatment, especially in children.

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The 30th Albanian Surgical Conference & the 7th Albanian Congress of Trauma and Emergency Surgery


 
 
 
 
 
 
 
 
 
 
 
 The 30th Albanian Surgical Conference (ACS 2023) and the 7th Albanian Congress of Trauma and Emergency Surgery (ACTES 2023) represent a significant milestone in the medical community. These concurrent events provide a platform for the exchange of knowledge, collaboration, and the advancement of surgical science in Albania.
 ACS 2023 & ACTES 2023 gather experts, scholars, practitioners, and enthusiasts from the field of surgery, both in traumatic and non-traumatic areas, in the vibrant city of Tirana. The comprehensive program encompasses a diverse range of surgical topics, from abdominal and chest injuries to vascular injuries, emergency surgery, and the challenge of nurse services in the new millennium.
 The theme of this year's events, "Surgery and not only...," reflects the commitment to innovation, best practices, and groundbreaking discoveries. The programs include plenary sessions with renowned experts, scientific presentations, panel discussions, networking opportunities, an industry exhibition, poster awards, cultural and social activities, and Continuing Medical Education (CME) credits.
 Participants can expect a professionally enriching experience that also offers personal rewards. ACS 2023 & ACTES 2023 value the role of each attendee in contributing to the advancement of surgical knowledge and patient care. The events promise to chart new horizons in the field of surgery and foster international collaboration.
 The 30th Albanian Surgical Conference and the 7th Albanian Congress of Trauma and Emergency Surgery are poised to create lasting memories, and their success hinges on the active participation of every attendee. It is an opportunity to inspire, collaborate, and make a lasting impact on surgical care worldwide.
 
 
 
 
 
 
 
 
 
 
 
 
 
 

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Attitudes of psychiatrists towards people with mental illness: a cross-sectional, multicentre study of stigma in 32 European countries

Mental health-related stigma occurs among the public and professionals alike. The lived experience of mental illness has been linked to less stigmatising attitudes. However, data on psychiatrists and the relationship between stigmatising attitudes and psychotherapeutic activity or case discussion groups remains scarce. A cross-sectional multicentre study was performed in 32 European countries to investigate the lived experiences and attitudes of psychiatrists toward patients with mental illness as well as the relationship between stigma, psychosocial and professional factors. The self-reported, anonymous, internet-based Opening Minds Stigma Scale for Health Care Providers was used to measure the stigmatising attitudes. The survey was translated into the local language of each participating country. All participants were practising specialists and trainees in general adult or child and adolescent psychiatry. The study took place between 2nd October, 2019 and 9th July, 2021 and was preregistered at ClinicalTrial.gov (NCT04644978). A total of 4245 psychiatrists completed the survey. The majority, 2797 (66%), had completed training in psychiatry, and 3320 (78%) worked in adult psychiatry. The final regression model showed that across European countries more favourable attitudes toward people with mental illness were statistically significantly associated with the lived experience of participants (including seeking help for their own mental health conditions (d=-0.92, 95% confidence interval (CI)=-1.68 to-0.15, p=0.019), receiving medical treatment for a mental illness (d=-0.88, 95% CI=-1.71 to-0.04, p=0.040), as well as having a friend or a family member similarly affected (d=-0.68, 95% CI=-1.14 to-0.22, p=0.004)), being surrounded by colleagues who are less stigmatising (d=-0.98, 95% CI=-1.26 to-0.70, p<0.001), providing psychotherapy to patients (d=-1.14, 95% CI=-1.63 to-0.65 p<0.001), and being open to (d=-1.69, 95% CI=-2.53 to-0.85, p<0.001) and actively participating in (d=-0.94, 95% CI=-1.45 to-0.42, p<0.001) case discussion, supervision, or Balint groups. Our study highlights the importance of psychotherapy training, supervision, case discussions and Balint groups in reducing the stigmatising attitudes of psychiatrists toward patients. As the findings represent cross-national predictors, Europe-wide policy interventions, national psychiatric education systems and the management of psychiatric institutions should take these findings into consideration. National Youth Talent Award (Ministry of Human Resources, Hungary, (NTP-NFTÖ-20-B-0134). All authors received no funding for their contribution.

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Management of syncope in the Emergency Department: a European prospective cohort study (SEED).

In 2018, the European Society of Cardiology (ESC) produced syncope guidelines that for the first-time incorporated Emergency Department (ED) management. However, very little is known about the characteristics and management of this patient group across Europe. To examine the prevalence, clinical presentation, assessment, investigation (ECG and laboratory testing), management and ESC and Canadian Syncope Risk Score (CSRS) categories of adult European ED patients presenting with transient loss of consciousness (TLOC, undifferentiated or suspected syncope). Prospective, multicentre, observational cohort study. Adults (≥18 years) presenting to European EDs with TLOC, either undifferentiated or thought to be of syncopal origin. Between 00:01 Monday, September 12th to 23:59 Sunday 25 September 2022, 952 patients presenting to 41 EDs in 14 European countries were enrolled from 98 301 ED presentations (n = 40 sites). Mean age (SD) was 60.7 (21.7) years and 487 participants were male (51.2%). In total, 379 (39.8%) were admitted to hospital and 573 (60.2%) were discharged. 271 (28.5%) were admitted to an observation unit first with 143 (52.8%) of these being admitted from this. 717 (75.3%) participants were high-risk according to ESC guidelines (and not suitable for discharge from ED) and 235 (24.7%) were low risk. Admission rate increased with increasing ESC high-risk factors; 1 ESC high-risk factor; n = 259 (27.2%, admission rate=34.7%), 2; 189 (19.9%; 38.6%), 3; 106 (11.1%, 54.7%, 4; 62 (6.5%, 60.4%), 5; 48 (5.0%, 67.9%, 6+; 53 (5.6%, 67.9%). Furthermore, 660 (69.3%), 250 (26.3%), 34 (3.5%) and 8 (0.8%) participants had a low, medium, high, and very high CSRS respectively with respective admission rates of 31.4%, 56.0%, 76.5% and 75.0%. Admission rates (19.3-88.9%), use of an observation/decision unit (0-100%), and percentage high-risk (64.8-88.9%) varies widely between countries. This European prospective cohort study reported a 1% prevalence of syncope in the ED. 4 in 10 patients are admitted to hospital although there is wide variation between country in syncope management. Three-quarters of patients have ESC high-risk characteristics with admission percentage rising with increasing ESC high-risk factors.

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Surgical Outcomes in Different Age Cohorts Undergoing Abdominal Surgery: A Retrospective Study

PurposeThis study aimed to investigate and compare the surgical outcomes of younger and older patients after abdominal surgery and explore risk factors related to postoperative complications and in-hospital mortality in patients ≥65 years old. DesignA retrospective study on 540 adult patients who underwent abdominal surgery and stayed more than 48 hours in the hospital. MethodsThe two groups of patients: younger than 65 years and ≥65 years old were compared related to postoperative complications, length of hospital stay, and mortality rates. The cohort of patients aged ≥65 years was selected to analyze risk factors for complications occurrence and in-hospital mortality. FindingsPatients ≥65 years old had poorer outcomes after abdominal surgery than younger patients. Pre-existence of comorbidities, American Society of Anesthesiologists physical status classification greater than two, emergency admission, and low preoperative serum albumin levels were risk factors for postoperative complications and mortality in elderly patients. Other risk factors for in-hospital mortality were the age ≥75 years, obesity, postoperative serum albumin level less than 30 g/L, presence of anemia before and after surgery, and occurrence of postoperative complications. Logistic regression revealed as independent risk factors for the postoperative complications the American Society of Anesthesiologists' physical status classification greater than two (odds ratio [OR]: 3.05, 95% confidence interval [CI]: 1.63-5.67, P = .0004) and preoperative serum albumin levels lower than 30 g/L (OR: 2.12, 95% CI: 1.08-4.17, P = .02), while for in-hospital postoperative mortality, independent risk factors were postoperative anemia (OR: 4.13; 95% CI: 1.22-13.97, P = .02) and obesity (OR: 7.65, 95% CI: 2.59-22.57, P = .0002). ConclusionsOptimizing the preoperative conditions of older patients will improve their postoperative outcomes, especially for patients ≥75 years old, with obesity, comorbidities, anemia, severe nutritional risk, and emergency admission.

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The ERA Registry Annual Report 2021: a summary.

The European Renal Association (ERA) Registry collects data on kidney replacement therapy (KRT) in patients with end-stage kidney disease (ESKD). This paper is a summary of the ERA Registry Annual Report 2021, including a comparison across treatment modalities. Data was collected from 54 national and regional registries from 36 countries, of which 35 registries from 18 countries contributed individual patient data and 19 registries from 19 countries contributed aggregated data. Using this data, incidence and prevalence of KRT, kidney transplantation rates, survival probabilities and expected remaining lifetimes were calculated. In 2021, 533.2 million people in the general population were covered by the ERA Registry. The incidence of KRT was 145 per million population (pmp). In incident patients, 55% were 65 years or older, 64% were male, and the most common primary renal disease (PRD) was diabetes (22%). The prevalence of KRT was 1040pmp. In prevalent patients, 47% were 65 years or older, 62% were male, and the most common PRDs were diabetes and glomerulonephritis/sclerosis (both 16%). On 31 December 2021, 56% of patients received haemodialysis, 5% received peritoneal dialysis, and 39% were living with a functioning graft. The kidney transplantation rate in 2021 was 37 pmp, a majority coming from deceased donors (66%). For patients initiating KRT between 2012-2016, 5-year survival probability was 52%. Compared to the general population, life expectancy was 65% and 68% shorter for males and females receiving dialysis, and 40% and 43% shorter for males and females living with a functioning graft.

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Safety of early discharge after primary percutaneous coronary intervention in low risk ST-segment elevation myocardial infarction presented in a tertiary center without an established STEMI network

Abstract Introduction The application of ST-segment elevation myocardial infarction (STEMI) networks, is a key factor for improvements in outcomes of STEMI patients, leading to earlier treatment, better outcomes and shorter hospital stay. Current guidelines support an early discharge (48-72 h) in selected low risk patients. Yet, this strategy is not routinely applied, especially in centers without an established STEMI network. Purpose To evaluate safety of early discharge in low risk STEMI patients treated with primary PCI by analyzing 30 days outcomes, in a unique tertiary center without an established STEMI network and serving a large area of population. Methods We prospectively collected data from 220 consecutive patients admitted to our center with diagnosis of STEMI, in two different time periods, categorized as low risk according to Zwolle risk score.175 patients were discharged within 72 hours and 45 patients after 72 hours. Follow-up was done by phone call at 30 days. Primary endpoint was occurrence of a major adverse event - a composite of death from cardiac cause, nonfatal myocardial re-infarction, and repeat intervention. Secondary endpoints were death from any cause, residual angina and re-hospitalization. Results The mean age was 58.12 +/-10.32 years. 193 (87%) of patients were male. 118 (53.6%) of them had inferior MI. Mean ejection fraction was 50% +/- 6.04%. Median symptom to hospital arrival time was 5.17 +/- 0.2 hours. Median length of hospital stay was 69.8 +/-17.09 hours. Primary endpoint occurred in 6 (3.4%) patients, all of them in the &amp;lt;72 hours discharge group. 3 patients had cardiac death, 3 had nonfatal MI and eventually 2 of them had repeat intervention. Secondary endpoint occurred in 8 (4.6%) patients in the &amp;lt;72 hours discharge group and 1 (2.2%) patient in the &amp;gt;72 hours discharge group, all of them having residual angina. Conclusion In low risk STEMI patients treated with successful primary PCI, data from our study suggest that an early discharge strategy within 72 hours is associated with comparable outcomes regarding major adverse events compared to late discharge strategy.

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THE EFFECTS OF INTRAVITREAL ANTI-VEGF INJECTION ON THE MACULAR EDEMA AND VISUAL ACUITY OF PATIENTS WITH WET ARMD

&lt;p&gt;&lt;span&gt;Globally, age-related macular degeneration, or AMD, is the primary cause of irreversible vision loss. It has 2 late-stage manifestations, which may coexist: a nonneo-vascular form known as geographic atrophy and a neovascular form characterized by the presence of macular neovascularization, previously known as choroidal neovascularization. Risk factors for AMD may be nonmodifiable (eg, age) or modifiable (eg, cigarette smoking and low micronutrient intake). According to multiple genome-wide association studies, genetic factors account for at least 55% of total AMD risk, and the pathway most consistently implicated in AMD is the complement cascade. For exudative AMD, anti-vascular endothelial growth factor agents are the cornerstone of care and are typically administered using 1 of 3 broad approaches: fixed-interval dosing, as-needed dosing, or treat-and-extend dosing. In addition to AMD, multiple retinal pathologies may lead to choroidal neovascularization; these distinct exudative diseases are also frequently managed with antivascular endothelial growth factor drugs. Case report: We describe three months of treatment with three intavitrealaflibercept (EYLEA) in two cases of ARMD with macular edema. Following each injection, the visual acuity (VA) increased in both of the cases. The purpose of this article is to review how anti-VEGF medications affect macular edema and help ARMD patients see better.&lt;/span&gt;&lt;/p&gt;&lt;p&gt;&lt;span&gt;&lt;strong&gt;Keywords:&lt;/strong&gt; ARMD; macular edema, coroidalneovascularisation, visual acuity, anti-VEGF treatment.&lt;/span&gt;&lt;/p&gt;

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THE SIGNIFICANCE OF ARGON LASER IN PATIENTS WITH PERIPHERAL RETINAL BREAKS IN PREVENTING RETINAL DETACHMENT

&lt;p&gt;&lt;span&gt;Retinal detachment is a risk to one's vision that occurs about 1 in 10,000 times. Prior to the 1920s, this disease was completely blinding. Restoration of retinal detachments has been much simpler over the past 50 years thanks to procedures like scleral buckling, pneumatic retinopexy, and vitrectomy. Rhegmatogenous, tractional, and exudative retinal detachments are the three types. When subretinal fluid accumulates between the retinal pigment epithelium and the neurosensory retina, retinal detachment occurs. During this phase, three things might occur. Breaking the retina is one way to let vitreous directly enter the subretinal region. This retinal detachment is rhegmatogenous. Rhegmatogenous retinal detachments are frequently brought on by trauma- or posterior vitreous-separated-induced retinal tears. The growth of membranes on the vitreous or retinal surface is a second mechanism.These membranes have the capacity to physically divide the retinal pigment epithelium from the neurosensory retina. A tractional retinal detachment is what this is. Proliferative retinopathy caused by sickle cell anemia, diabetes, or other conditions that neovascularize the retina can cause tractional retinal detachment. Proliferative vitreoretinopathy following trauma or surgery may also contribute to tractional retinal detachments. Fluid exuding from a mass lesion or an accumulation of subretinal fluid caused by inflammatory mediators are the third causes of retinal detachment. Serous or exudative retinal detachment is the term used to describe this mechanism. Sarcoidosis and choroidal neoplasms are two examples of inflammatory or exudative retinal disease processes that can cause serous detachments. Patients with aggressively spreading cancers, such as testicular cancer, may also have serous retinal detachments. A case study of a retinal detachment without a profilactive argon laser and a known peripheral retinal break is presented. The patient arrived at our clinic with symptoms of retinal detachment that had been present for two to three weeks, as well as peripheral retinal breaks that had been photographed eight months prior.&lt;/span&gt;&lt;/p&gt;&lt;p&gt;&lt;span&gt;&lt;strong&gt;&lt;span&gt;Keywords: &lt;/span&gt;&lt;/strong&gt;&lt;span&gt;Retinal detachment; peripheral retinal breaks; rhegmatogenous; tractional; exudative; profilactive argon laser.&lt;/span&gt;&lt;/span&gt;&lt;/p&gt;

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