The impact of COVID-19 pandemic on dermatology patients with rare skin diseases.

The COVID-19 pandemic has caused a global health crisis, presenting novel challenges while worsening preexisting difficulties for individuals with rare diseases. Internationally, they have experienced disruptions in their medical care, with a lack of access to essential treatments and diagnostics. We focused on the specific challenges faced by individuals living with rare skin diseases in Albania, a country with limited healthcare infrastructure.

Management of Cardiac Involvement in Becker Muscular Dystrophy: A Case Report.

Becker muscular dystrophy (BMD) is an X-linked recessive neuromuscular disorder caused by a mutation in the dystrophin gene. Cardiac involvement is a frequent finding in BMD, and manifestations may vary from asymptomatic cardiac involvement to developing symptoms of heart failure and severe cardiomyopathy. We presented the case of a 32-year-old wheelchair-dependent BMD patient who came to our cardiology clinic with a two-month history of heart palpitations, rest and nocturnal dyspnea, fatigue, and generalized muscular weakness.

Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.

Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inherited disorder affecting fatty acid metabolism. This enzymatic defect presents with a broad clinical spectrum, from severe neonatal forms that can be fatal, to milder myopathic variants characterized by myalgia and recurrent myoglobinuria in adolescence and adulthood. Herein, we report the case of a male patient who developed exertional rhabdomyolysis and acute kidney injury due to CPT2 deficiency.

The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients.

Background: Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present a CFTR mutation analysis among the Albanian population and to identify rare variants.

Methods: We identified CFTR mutations in a representative cohort of CF patients comprising of Albanian patients and some Kosovo patients followed up by the Department of Pediatrics at the University Hospital Center "Mother Theresa" (UHCMT).

Prevalence and Sociodemographic Correlates of Smoking among Schoolchildren in Albania.

Smoking among children remains a critical public health issue, with millions of minors engaging in tobacco use, leading to addiction and long-term health consequences. Our objective was to assess the prevalence and sociodemographic distribution of smoking habits among Albanian children. A cross-sectional study was conducted in Albania in 2022, including a nationwide representative sample of 5454 schoolchildren aged 11, 13, and 15 years (N = 5454; ≈52% girls; response rate: 96%).

Definitive radiotherapy and trismus in HNC patients: A critical review.

Introduction: Trismus is a potentially critical morbidity following curative-intended radiotherapy in head and neck cancer patients. However, in this setting, evidence regarding this side effect remains to be fully defined, particularly in terms of dosimetric parameters.

Materials And Methods: Key references were derived from a PubMed query.

Identifying risk factors for blood culture negative infective endocarditis: An international ID-IRI study.

Background: Blood culture-negative endocarditis (BCNE) is a diagnostic challenge, therefore our objective was to pinpoint high-risk cohorts for BCNE.

Methods: The study included adult patients with definite endocarditis. Data were collected via the Infectious Diseases International Research Initiative (ID-IRI).

Contralateral approach to giant ruptured and unruptured ophthalmic artery aneurysms: patient series.

Background: Giant ophthalmic artery (OphA) aneurysms remain surgically challenging despite the progress in endovascular treatments. This study describes the contralateral interoptic corridor in select patients based on imaging criteria suitable for clipping. The aim of this study was to show that despite the growing use of novel endovascular techniques, such as coil embolization and flow diversion, for the treatment of OphA aneurysms, microsurgical clipping may still be preferred for giant ones under certain conditions.

Congenital Anomalies of the Left Main Coronary Artery: A Case Series.

Coronary artery anomalies (CAAs) are rare congenital defects. The most frequent congenital anomaly is the origin of the left circumflex artery (LCX) from the right coronary sinus, followed by the common origin of the right coronary artery (RCA) and left anterior descending artery (LAD) from the right coronary sinus, as well as LAD originating from the right coronary sinus. The rarest anomaly is the left coronary artery or left main (LM) originating from the right coronary sinus.

Role of Intracoronary Adrenaline in the Treatment of No-Reflow Phenomenon in Patients Undergoing Percutaneous Coronary Intervention.

The no-reflow phenomenon is defined as the failure to restore coronary flow demonstrated by the reduced or missing flow in angiography despite the patent artery. There are pharmacological strategies proposed and studied to manage the no-reflow phenomenon. The medication groups used are purine nucleoside (adenosine), calcium channel blockers (verapamil, nicardipine), beta 2 receptor agonists (adrenaline, nitroprusside), fibrinolytic agents (streptokinase, tissue plasminogen activators), glycoprotein IIb/IIIa inhibitors (abciximab, tirofiban).

A Rare Case of Undifferentiated Pleomorphic Cardiac Sarcoma.

We present a case of a patient with a four-month history of gradual-onset dyspnea and generalized body weakness. During the clinical evaluation, a mass was found in the left atrium. Coronary angiography was performed and showed normal coronary arteries.

Putting the pieces together: towards an integrative framework for healthcare performance.

Purpose: In the past few decades, performance measuring systems have become important managerial tools for healthcare organizations. Healthcare performance metrics are a useful tool in understanding how healthcare organizations achieve their goals while satisfying the needs of their patients and conforming to national and international standards. Various efforts have been made to assess healthcare performance.

Aplastic Anaemia in Pregnancy: A Case-Based Comprehensive Review of the Literature.

Aplastic anaemia (AA) is a rare and life-threatening haematologic disorder characterised by pancytopenia and bone marrow failure. Its occurrence during pregnancy is exceedingly rare, posing significant risks and management challenges for both the mother and the foetus. We present here the case of a 23-year-old female, six months pregnant, diagnosed with severe aplastic anaemia (AA), aiming to highlight the diagnostic challenges and management considerations of AA in pregnancy.

Positive end-expiratory pressure and the incidence of postoperative pulmonary complications in patients undergoing general anaesthesia.

Aim Of The Study: To evaluate the effect of intraoperative positive end-expiratory pressure and driving pressure on the development of postoperative pulmonary complications.

Method: The prospective study included 83 patients undergoing abdominal surgery and receiving general anaesthesia. Patients were divided into two groups: with low intraoperative positive end-expiratory pressure (0-2cm HO) and with high intraoperative positive end-expiratory pressure (8-10cm HO).

Hepatic Hydatid Cyst Presenting as Right-Sided Heart Failure: A Case Report.

Cystic echinococcosis is a parasitic disease caused by . The transmission of the parasite to dogs occurs when organs of animals that harbor hydatid cysts are consumed. We present the case of a patient presented in the cardiology outpatient clinic with the signs and symptoms of predominant right-sided heart failure.

Impact of Temperature and Atmospheric Pressure on Hospitalizations of Patients Presenting With Acute Coronary Syndrome.

Aim:  This study aims to investigate the impact of temperature and atmospheric pressure on hospitalizations of patients with acute coronary syndrome (ACS).

Materials And Methods: This is a retrospective, observational, analytical study conducted in a single center, University Hospital Center "Mother Teresa," Tirana, Albania, in the period January-December 2018. This study included 1,165 patients with ACS, who performed urgent coronary angiography, from January 2018 to December 2018.

Percutaneous Coronary Intervention in a Patient Presenting With Inferior Myocardial Infarction and an Anomalous Left Main Artery Originating From the Right Coronary Sinus.

We present a case of a patient with inferior myocardial infarction (MI) and anomalous left main artery originating from the right coronary sinus. The left main artery and right coronary artery originated from the right coronary sinus but with separate ostia. The patient underwent revascularization of the right coronary artery with balloon angioplasty and a drug-eluting stent.

Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.

Introduction: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults.

Aim: This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease.

Contrast-Induced Nephropathy in Interventional Cardiology: Incidence, Risk Factors, and Identification of High-Risk Patients.

Aim: This study aimed to study contrast-induced nephropathy (CIN) or more recent nomenclature contrast-associated acute kidney injury (CI-AKI) in patients undergoing percutaneous coronary procedures, evaluating CIN incidence, risk factors (RFs), and high-risk patients with CIN.  Methods: This is a prospective, observational, unicentric trial of patients who underwent coronary angiography and/or percutaneous coronary intervention (PCI) in the University Hospital Center (UHC) "Mother Teresa" in Tirana, Albania, during 2016-2018. CIN was defined as an increase of 25% and/or by 0.

Sodium and water dynamics in the progression of chronic kidney disease: mechanisms and clinical significance.

Aim: Lifestyle modifications can postpone the progression of chronic kidney disease toward its terminal stage. This mini-review aims to explore the impact of salt and water intake on the progression of chronic kidney disease (CKD) and provide insights into the optimal consumption levels to preserve the glomerular filtration rate.

Methods: We reviewed relevant literature to examine the association between salt and water consumption and CKD progression.

Trends in SARS-CoV-2 seroprevalence in Albania during the 2021-2022 pandemic year.

Background: Monitoring SARS-CoV-2 seroprevalence dynamics during the COVID-19 pandemic is crucial for understanding population immunity and providing insights into public health policies. Limited data exist on this from Albania and other Eastern European countries. This study aimed to investigate SARS-CoV-2 seroprevalence in Albania, comparing August 2021 and August 2022 data from two representative samples of the general population.

Long-term prognosis in patients undergoing redo-isolated aortic valve replacement.

To evaluate clinical outcomes after redo aortic valve replacement (AVR) with sutured valves, versus valve-in-valve transcatheter aortic valve replacement (ViV-TAVR), versus sutureless valves. We identified 113 consecutive patients undergoing redo AVR with either ViV-TAVR, redo-sutured and redo-sutureless valves between August 2010 to March 2020. Heart-team made the decision whether patient should undergo redo-sutureless versus ViV-TAVR, versus redo-sutured AVR.