Update on HPV Vaccination Policies and Practices in 17 Eastern European and Central Asian Countries and Territories.

Background: In 2021, a survey was conducted as part of the regional program of the United Nations Population Fund (UNFPA) Regional Office for Eastern Europe and Central Asia (EECA) to assess the policies and practices relating to HPV vaccination and cervical cancer screening in the 17 countries and territories included in this region. Since then, very substantial progress has been made with HPV vaccination across the region so another survey was conducted establish the current situation.

Methods: A 10 question survey covering the policies, plans and practices for HPV vaccination was prepared.

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.

Purpose: The main objective of this study was to assess clinical features and genome-wide DNA methylation profiles in individuals affected by intellectual developmental disorder, autosomal dominant 21 (IDD21) syndrome, caused by variants in the CCCTC-binding factor (CTCF) gene.

Methods: DNA samples were extracted from peripheral blood of 16 individuals with clinical features and genetic findings consistent with IDD21. DNA methylation analysis was performed using the Illumina Infinium Methylation EPIC Bead Chip microarrays.

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to impact neurodevelopment. Specific genotype-to-phenotype correlations have been established previously describing striking differentiating features seen in variants located in specific domains of the TRIO gene that are associated with opposite effects on RAC1 activity. Currently, 32 cases with a TRIO gene alteration have been published in the medical literature.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering variation in the transcriptional coregulator ZMYM3, located on the X chromosome. Most (n = 24) individuals were males, 17 of which have a maternally inherited variant; six individuals (4 male, 2 female) harbor de novo variants.

Extralevator Abdominoperineal Excision (ELAPE) is Not Superior to Abdominoperineal Excision (APE) in the Era of Neoadjuvant Treatment in Rectal Cancer.

: To evaluate the effect of extralevator abdominoperineal excision of the rectum (ELAPE) on the circumferential resection margin (CRM) and overall survival in comparison to standard abdominoperineal excision of the rectum (APE) in patients with advanced rectal cancer. : This retrospective study encompasses patients with advanced rectal cancer operated on with two different methods: prone Jack-Knife position ELAPE and APE. In part of them, neoadjuvant chemoradiation was conducted.

Intra and Postoperative Advantages of Laparoscopy in the Treatment of Complicated Appendicitis.

: To determine and define the advantages of the laparoscopic appendectomy in the treatment of complicated appendicitis by comparing it with the open appendectomy. : In this prospective interventional clinical study we compared the intraoperative data and the postoperative outcome of 77 patients presented with complicated appendicitis, operated with open and laparoscopic appendectomy within a period of 20 months. One surgeon performed all of the laparoscopic procedures and two other senior surgeons performed the open procedures.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies.

Duplication of Chromosome 16p13.11-p12.3 with Different Expressions in the Same Family.

The knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple family members are caused by gene mutations, which can be inherited.

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

De novo variants in the WDR26 gene leading to haploinsufficiency have recently been associated with Skraban-Deardorff syndrome. This condition is an ultra-rare autosomal dominant neurodevelopmental disorder characterized by a broad range of clinical signs, including intellectual disability (ID), developmental delay (DD), seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies. Currently, 18 cases have been reported in the literature and for only 15 of them a clinical description is available.

Missense variant contribution to USP9X-female syndrome.

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome.

Genetics in Macedonia-Following the international trends.

Genetics in Macedonia-Following the international trends.

Beyond network structure: How heterogeneous susceptibility modulates the spread of epidemics.

The compartmental models used to study epidemic spreading often assume the same susceptibility for all individuals, and are therefore, agnostic about the effects that differences in susceptibility can have on epidemic spreading. Here we show that-for the SIS model-differential susceptibility can make networks more vulnerable to the spread of diseases when the correlation between a node's degree and susceptibility are positive, and less vulnerable when this correlation is negative. Moreover, we show that networks become more likely to contain a pocket of infection when individuals are more likely to connect with others that have similar susceptibility (the network is segregated).

Ghrelin suppression of potassium currents in smooth muscle cells of human mesenteric artery.

Ghrelin is a 28-amino acid peptide hormone which modulates many physiological functions including cardiovascular homeostasis. Here we report some novel findings about the action of ghrelin on smooth muscle cells (SMC) freshly isolated from human mesenteric arteries. Ghrelin (10(-7) mol/l) significantly suppressed the iberiotoxin-blockable component of potassium currents (I(K)) and depolarized the cell membrane, while having no effect on Ca(2+) currents.

[The possible pathogenesis of AA type amyloidosis in a patient with ulcerative colitis and renal cell carcinoma].

A 43-year-old male with a two-month history of ulcerative colitis and nephrectomy due to a renal cell carcinoma performed a month before was admitted to University Department of Nephrology for nephrotic syndrome and chronic renal failure. Biopsy of the remnant kidney revealed secondary AA amyloidosis with deposits in the glomeruli and walls of intrarenal blood vessels. Re-evaluation of the nephrectomized kidney also showed amyloid deposits both in the renal tissue free from malignant cells and in tumor tissue.

Vibrational studies of the solid imidazole and pyridine adducts of metal(II) saccharinates. III. Zn(II) and Hg(II) imidazole saccharinates.

Adducts of bis(o-sulfobenzimidato)zinc(II) and mercury(II) with imidazole are synthesized for the first time and their mid-infrared vibrational spectra at ambient conditions and at 77 K are coupled with the earlier spectra-structural inferences to predict aspects of the respective solid-state structures. The spectrum of the H2O-matrix isolated OD fundamentals in the hydrated zinc compound is also investigated. The structure of the latter adduct contrasts the octahedral isostructural tetrad of mixed imidazole-saccharinates [M(H2O)2(C3H4N2)4](C7H4NO3S)2 [M = Mn(II), Fe(II), Co(II) and Ni(II)] in that it bears only a single crystallographic type of hydrogen bonded C2v water molecules and at least two structurally different o-sulfobenzimidate ligands, some of them likely utilized in a bridging fashion.

On the short carbonyl bond in bis[mu-1,2-benzisothiazol-3(2H)-one 1,1-dioxido-kappa2N:O]bis[[1,2-benzisothiazol-3(2H)-one 1,1-dioxido-kappaN]bis(imidazole)copper(II)].

The short carbonyl bond in the title compound, [Cu(2)(C(7)H(4)NO(3)S)(4)(C(3)H(4)N(2))(4)] [Liu, Huang, Li & Lin (1991). Acta Cryst. C47, 41-43], is an artifact of disorder in the isothiazol-3(2H)-one 1,1-dioxide part of the 1,2-benzisothiazol-3(2H)-one entity.

Experimental and theoretical vibrational study of bis(N,N-dimethylthiocarbamoylthio)acetic acid.

Harmonic vibrational analysis at HF/3-21G level is performed on the ab initio optimized molecular structure of bis(N,N-dimethylthiocarbamoylthio)acetic acid, and the outcome used in assigning the infrared spectrum of the acid. The calculated spectrum compares well with the experimental solid-state FT IR spectrum recorded at 298 and at 77 K.

Experimental and theoretical vibrational study of isatin, its 5-(NO2, F, Cl, Br, I, CH3) analogues and the isatinato anion.

Effects of 5-R substitution (R = NO2, F, Cl, Br, I, CH3) and N-deprotonation on the 4000-400 cm(-1) region of the low temperature FT IR spectrum and the molecular structure of solid isatin are investigated. Harmonic IR spectra and molecular geometries of the 5-R isatins (except for Br and I analogues) are calculated at the HF/6-31G(d, p) level and compared with the experimental solid-state data. In general, substitution has small effect on the molecular structure and the IR spectrum of isatin.

Investigation of antimicrobial activity of essential oils of several Macedonian Thymus L. species (Lamiaceae).

Antimicrobial activity of twenty specimens of essential oils of eleven Thymus species, naturally occurring in the Macedonian flora, was investigated by agar diffusion and broth dilution methods. Inhibition of growth and microbicidal action was examined on three Gram positive bacteria (Staphylococcus aureus, Streptococcus pyogenes and Streptococcus pneumoniae). In spite of wide variability in essential oil composition, ranging from traces of thymol to the amount of about 50% thymol in oils, all examined samples of Thymus essential oil possessed strong antibacterial activity.

Vibrational study and spectra-structure correlations in ammonium saccharinate: comparison with the alkali saccharinates.

The FT IR spectra, at temperatures from liquid-nitrogen boiling (LNT) up to room temperature (RT), as well as the RT Raman solid-state spectra of protonated and deuterated ammonium saccharinate and of a series of alkali (Na, K, Rb, Cs) saccharinates are studied. The spectral assignments are aided with ab initio calculations on the free saccharinato anion at the HF/6-31 + + G(d,p) level. Attention is paid to the ND, CO and SO2 stretching regions.

Pathogenesis of anaemia in hyperparathyroidism.

It is suggested that parathyroid hormone (PTH), when in excessive amounts, interferes with normal erythropoiesis by downregulating the erythropoietin receptors on erythroid progenitor cells in the bone marrow. Therefore, physiologic concentrations of EPO can no longer sustain normal red cell counts, so normocytic and normochromic anaemia ensues. In primary hyperparathyroidism (HPT), this effect is observed with very high concentrations of PTH.

Bioelectric impedance in the estimation of hemodynamic and fluid status in dialysis patients.

In order to estimate the hemodynamic and fluid changes, "dry body weight" and intradialytic stability, electric bioimpedance cardiography was performed in 37 dialysis patients during dialysis procedure, i.e. before, at 2 h and after dialysis.

Dicesium trans-Tetraaquadichlorochromium(III) Chloride: Redetermination of the Crystal Structure and Infrared Study of the Water Spectrum.

Infrared spectral studies of the solid led us to believe that the published crystal structure of dicesium trans-tetraaquadichlorochromium(III) chloride,trans-Cs(2)[CrCl(2)(H(2)O)(4)]Cl(3) might be incorrect. Crystal data: Cs(2)CrCl(5). 4H(2)O, a = 17.