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Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis.

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3 emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3 gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3 gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3 gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for SOX3 gene duplications with DNA microarrays.

Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at the usual dose. Laboratory investigations revealed normal values for calcium, phosphorus and alkaline phosphatase. He was short (-3.5 SDS), his mental development was normal, and he started to walk at the age of 22 months. The diagnostic clue for the diagnosis of metatropic dysplasia was the presence of the hump back in the upper lumbar and lower thoracic vertebrae, in addition to a long and narrow chest. An X-ray survey of the skeleton revealed platyspondyly, dysplastic metaphyses with dumbbell appearance of the long bones, kyphoscoliosis, and narrow and elongated thorax with short ribs. This is the first patient with MD in the Republic of Macedonia. Knock-knees were the cause of his referral, as a peculiarity of his phenotype. The very presence of the hump back, and the dumbbell appearance of the long bones distinguished the MD from other bone dysplasias with similar characteristics. We believe that the presence of those two features can shorten the path to accurate diagnosis in the crowded field of overlapping skeletal dysplasias. The diagnosis of MD in this patient was further confirmed by the discovery of the mutation c.2396C>T; p.Pro799Leu (P799L) of the TRPV4 gene.

Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS)] and height (+0.15 SDS) for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC)286Leu(CTC)] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.

BACKGROUND: Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multicenter series of 42 persons with 16p11.2 deletions. RESULTS: We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P

The air quality in the city of Bor in 2023 is analysed in this paper. In the period from May 1, 2022 until April 1, 2023 the copper smelter in Bor was not working due to reconstruction and capacity increase. The analyses show that in 2023, no exceeding of the daily limit value for SO2 , PM10, and soot concentrations was detected at any measuring point. During the reconstruction of the copper smelter, correlation coefficients (Pearson) at measurement point "Jugopetrol" between PM10 and the chemical elements Cd and As were moderate (0.6>r>0.4), while in the period before and after the reconstruction of the smelter, they were strong (0.8>r>0.6), and very strong (r>0.8). The results presented in the paper indicate that despite the reconstruction of the copper smelter, the problem of emission of high concentrations of carcinogenic elements in PM10 from the copper smelter is still present. It is necessary to urgently implement additional measures to reduce these emissions to the values provided by law.

In addition to traffic, the main source of nitrogen dioxide is also industrial plants where combustion takes place at high temperatures, such as heating plants and smelters. Nitrogen oxides from traffic are the dominant component of air pollution in large cities and represent an important source of exposure and health risk for people, especially those who move along busy roads. In Bor, real-time nitrogen dioxide concentrations have been measured since 2010 at the measuring point "Institute IRM Bor" near Mining and Metallurgy Institute Bor. This paper presents an analysis of the results of measuring nitrogen dioxide concentrations in Bor in the periods 2010-2013 and 2019-2023. Based on the analysis of nitrogen dioxide measurement results, it was established that in both periods there are seasonal changes (heating/non-heating season) in nitrogen dioxide concentrations. Nitrogen dioxide concentrations were on average 17% higher in the heating season than in the non-heating season. Also, in the period 2019-2023 the average concentration of nitrogen dioxide was 28.6 µg/m3 , which is about 18% more compared to the period 2010-2013 in which the average concentration of nitrogen dioxide was 24.3 µg/m3 . In the observed periods, there was no exceedance of the limit value for the average annual concentration of nitrogen dioxide of 40 µg/m3 . However, several days were recorded with an average daily concentration of nitrogen dioxide above the daily limit value of 85 µg/m3 .

This paper presents the results of the air quality measurements in the agglomeration of Bor in the period June-December 2022, in which the Copper Smelter in Bor was not working due to the works on reconstruction and increasing the capacity for copper concentrate processing. Based on an analysis of the existing measuring points and concentrations of pollutants, measured in the local and national air quality monitoring network in the territory of the Bor agglomeration, as well as the possible impact of the new mining and metallurgical facilities in the company Serbia ZiJin Copper Bor, the additional locations, where the measurements were performed, were selected. The air quality measurement results show that there was no exceedance of the hourly and daily limit values for gaseous pollutants, nor were there an exceedance of the limit value for the mean daily concentration of lead in the suspended particles of the PM10 fraction, as well as the target values for the concentrations of cadmium and nickel in PM10. The arsenic concentration in PM10 at the measuring point of PU Bor was above the target annual value for 3 days. The maximum measured mean daily value of arsenic concentration in PM10 at this measuring point was 11.3 ng/m3 . Based on a complete insight into the results of air quality measurements in the Bor agglomeration in 2022, it can be concluded that the dominant share of concentration of SO2 , CO, as well as the concentration of arsenic, cadmium, and lead in PM10, originates from the gaseous pollutant emissions from the Copper Smelter Bor in the period when it operates. It was established that at the measuring point MMI Bor, the nitrogen oxide emissions from traffic mostly affect the level of nitrogen oxides in the air. Also, the measurement results indicate that the operation of the Smelter in 2022 did not significantly contribute to the concentration increase of suspended PM10 particles in the agglomeration of Bor, and that during the period of operation of the Copper Smelter in 2022, no copper concentrates with increased nickel content were processed.

The subjective experience of the environment where people live defines the comfort of that environment. The elements of environmental comfort are the air quality, thermal comfort, visual comfort, and sound comfort. The air quality in the room where people stay can significantly affect their concentration, i.e., the ability to work and study. The concentration of CO 2 in the room is used as an indicator of ventilation, that is, as an indicator of the air quality in the observed room. The thermal comfort defines a state of satisfaction with the thermal environment. The thermal comfort is achieved when the environment properties are such that they ensure the release of BAKAR 48 (2023) 1 COPPER body heat within the comfortable limits. This paper presents a part of the air quality and thermal comfort measurement results in the selected office in the Mining and Metallurgy Institute Bor from 2020 to 2022. Based on the analysis of measurement results, it was determined that the air quality in the selected office was satisfactory on an average of more than 90% of the working time, and the thermal comfort on an average of about 60% of the working time.

This paper presents the results of measurements the suspended particles of the PM 10 and PM 2.5 fractions in two high schools in Bor (School of Mechanical and Electrical Engineering-MS and Grammar School-GM). The measurements were conducted in two heating seasons for a duration of seven days (five weekdays, and two weekend days). Periods during the weekdays when there were classes and weekend days when there were no classes at school were analyzed separately. The measurement results show that the average concentrations of suspended particles PM 10 during the class period were 1.7 (GM) and 2.4 (MS) times higher than in the period without classes. The average concentrations of suspended particles PM 2.5 in both schools during the class period were 1.5 times higher than in the period without classes. In MS the average PM 10 and PM 2.5 concentrations during classes were above daily limit values for 3 of 5 working days. In contrast, there was no exceeding of the average daily limit values for concentrations of suspended particles during classes in GM. The results of measurements indicate that more attention should be paid to the way classrooms are cleaned to reduce the possibility of particles resuspension due to the movement of pupils during the teaching period.

The paper deals with the characteristics of synthesized glass-ceramics obtained by sintering a mixture of final flotation waste (FFW) with tuff at 1260ºC for 7 h, followed by the annealing of pressed samples at 1080oC for 36 h. The experiments were done in order to find the possibility for the valorization of waste material (FFW). By thermal treatment of mixtures of T20 (20 % tuff, 80 % FFW) and T40 (40 % tuff, 60 % FFW) to a temperature of 1260oC over a period of 7 hours, is obtained glass-ceramics with dendritic structure. The synthesized glass-ceramics consists of two phases: iron oxide crystals (maghemite, magnetite, and hematite) and glass with an approximate ratio of phases 32/68 (T20) and 23/77 (T40), respectively. The relatively small shrinkage of the synthesized material (up to 7 %) enables reliable control when designing a given shape indicating that such glass-ceramics can be used as a basis for obtaining construction material. The synthesis of pressed samples of mixtures (T20 and T40) at 1080oC for 36 h produces glass-ceramics that have a high coefficient of sound attenuation, which indicates good acoustic insulating properties.