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 ( = 0.0007). Especially children demonstrated a significant improvement in BMD ( = 0.00061) compared to adults ( = 0.3673). Mean BMD change was more indicative in switched patients ( = 0.0142) compared to naïve patients ( = 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.

Nowadays, one of the most important and essential aspects of having a healthy and safe life is the air safety and its quality in indoor and outdoor environments. In the air, there are not only chemical pollutants but also biological ones, with specific impacts. Hospital environments are among the most likely to be affected by the microbiological contamination of the air; therefore its quality is particularly important. Pathogenic microorganisms, which may be present in the air, can cause nosocomial infections in hospitalized patients, with compromised immune system or other medical conditions. This paper reflects the evaluation of microbiological air contamination, in different hospital environments and nearby areas, in the city of Tirana. The microbial air quality has been monitored during the period of 2009-2018, performing evaluations every three years, in the same area and the same time of the year. In order to build a database for understanding the impact of developmental changes on the air microbiological loads, results of similar studies conducted earlier, during 2007 and 2008 were also taken into consideration. The above-mentioned period was selected because of the changes in the infrastructure and indoor environments of the monitored area, where many patients have been treated for years. Changes have been made over the years to hospital structures and surroundings, including recreational facilities, clinical service units, as well as main and connecting roads, etc. The obtained results, which were compared over the years, provided a clear view of the changing microbiological air loads, influenced by the improvements of indoor and outdoor areas. The morphological studies of the observed, isolated, purified and identified microorganisms revealed the presence of specific mold loads, with the dominance of the species of Aspergillus genus and those of the group Fungi imperfecti. Over the years, a decrease in the total number was observed (from 103 to 101), together with a smaller number of bacteria (1012), in the monitored environments.

The described experimental study, performed over the years, includes the quantitative and qualitative monitoring of the presence of microorganisms of air in outdoor and indoor environments of the Albanian Capital, Tirana, during a time when large demographic movements, accompanied by important urban interventions and infrastructural changes, have been part of our lives. A project, part of the National Program in Biotechnology (R & D—the year 2000), was the first support to obtain a database on microbiological air pollution in selected urban areas in Tirana and isolate and identify specific air microbial pollutants. The results obtained were an incentive to continue further with additional scientific evaluation monitoring research, which included the years 2011 to 2015 and then those of 2016–2020. Over the years, there has been a significant reduction in pollutant microbial loads (for selected outdoor areas of the center of Tirana, the total discovered loads decreased from values of the order 10⁵–10⁶, to currently about 10², for the same areas). A fluctuation in indoor microbial loads was observed in many cases. Additionally, a prominent presence of typical environmental fungi pollutants such as Aspergillus niger, Aspergillus flavus, Aspergillus terreus, as well as bacterial pollutants, cocci, and bacilli (typical Bacillus megatherium) was identified during a Total Viable Count (TVC) and other microbiological tests of identification.

Background Rare diseases affect over 300 million people worldwide, with more than half of these cases presenting in childhood. Despite advances in genomic technologies, significant diagnostic delays remain, particularly in underrepresented populations. Although whole-genome sequencing is expected to be more effective than whole-exome sequencing, there are currently no direct patient-level comparisons from Albania. Methods We conducted a prospective, head-to-head comparison of whole-genome sequencing and whole-exome sequencing in 72 pediatric patients from Albania with suspected rare genetic disorders. Both technologies were applied in parallel using ISO-accredited pipelines. Variants were classified according to the ACMG guidelines and assessed for clinical relevance. Primary and secondary findings, as well as dual diagnoses, were recorded and compared. Results A molecular diagnosis was achieved in 72.2% of patients. Whole genome sequencing yielded diagnostic or secondary findings in 68.1% of cases, while whole exome sequencing identified primary diagnoses in 30.6% of cases. WGS made a primary diagnosis in 37.5% of cases, resolving complex or blended phenotypes and detecting variant types that were missed by WES, including deep intronic, regulatory and structural variants. Furthermore, WGS identified medically actionable secondary findings in 15.3% of patients, providing direct information for clinical management. Overall, WGS outperformed WES across variant classes and inheritance modes. Conclusion WGS demonstrated clear diagnostic superiority over WES in this pediatric cohort, particularly in identifying complex phenotypes and structural variants. These results suggest that WGS should be considered a primary diagnostic tool and highlight the importance of ensuring equitable access to genomic technologies for underrepresented populations.