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Fulltext A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features

Saidin A, Papazovska Cherepnalkovski A, Shaukat Z, Arsov T, Hussain R, Roberts BJ, et al.

Genes (Basel), 2024 Aug 05;15(8).
PMID: 39202391 DOI: 10.3390/genes15081031

Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker-Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the TUBA1A gene (NM_006009.4:c.848A>G; NP_006000.2:p.His283Arg) in the infant, who died at 2 months of age, as the likely cause. We report a previously unpublished, very rare heterozygous TUBA1A mutation with clinical features of macrocephaly and hypoplastic genitalia which have not previously been associated with the gene. The absence of eye phenotypes or mutations in Walker-Warburg-associated genes confirm this as not a new presentation of Walker-Warburg Syndrome but a novel TUBA1A tubulinopathy for neonatologists to be aware of.

Matched MeSH terms: Croatia
Consolidating international relations

Gething M

J Small Anim Pract, 2001 Feb;42(2):100-1.
PMID: 11263696
Matched MeSH terms: Croatia
Testing the accuracy of Bedek et al's new models based on 1-to-7 mandibular teeth for age estimation in 7-15 year old south Indian children

Sheriff SO, Medapati RH, Ankisetti SA, Gurrala VR, Haritha K, Pulijala S, et al.

J Forensic Odontostomatol, 2020 Sep 30;2(38):22-39.
PMID: 33174535

The goal of long term research on age assessment is to focus on the strengths and weaknesses of existing reliable methods of age estimation. In cases of age estimation when all teeth are present, maximum accuracy can be obtained using a 7 tooth model. Demirjian's system and Willems models require all seven mandibular teeth in the lower left quadrant for age assessment. Unfortunately, these methods cannot be applied in children with hypodontia. In 2019, Bedek et al., from Croatia, developed new models of age estimation based on a combination of one to seven mandibular teeth. In the present study, we tested the accuracy of the newly developed models for age estimation in South Indian children. Tested in parallel with Willems models, the accuracy of the new models was tested in terms of mean difference, mean absolute error (MAE) and percentage of correct estimations within intervals of +0.5 and +1 years. In terms of mean difference between chronological age (CA) and estimated dental age (DA), all models along with Willems models have underestimated the CA except Bedek et al's 6 tooth model where overestimation of CA was seen in boys. For MAE and percentage of correct estimations, the new models performed better than Willems models. With regards to our results, it can be concluded that the new models for dental age calculation are accurate and suitable. Therefore, we may encourage their use for age estimation in South Indian children, particularly in individuals with hypodontia or when multiple teeth are missing.

Matched MeSH terms: Croatia
Happiness among dentists: a multi-scale, multi-national study from 21 countries

Alhajj MN, Omar R, Khader Y, Celebić A, El Tantawi M, Folayan MO, et al.

Int Dent J, 2020 Oct;70(5):328-339.
PMID: 32501563 DOI: 10.1111/idj.12579

OBJECTIVES: The extent to which dentists are happy with their profession and their life has not been well studied. The present study aimed to explore the level of happiness, satisfaction with life and psychological well-being among a sample of dental professionals from 21 countries.
MATERIALS AND METHODS: The sample comprised 2,200 dentists from 21 countries. Three scales - Subjective Happiness Scale (SHS), Satisfaction With Life Scale (SWLS), and Affect Balance Scale (ABS) - were used to measure the subjective responses. Data related to demographic and social characteristics were recorded. Mann-Whitney and Kruskal-Wallis tests were used as appropriate. Scales were correlated, and multiple linear regression analyses were employed to identify the independent determinants of SHS, SWLS and ABS. Data were analysed using the SPSS software program; a value of P <0.05 was considered significant.
RESULTS: The overall mean scores of SHS, SWLS and ABS were 18.53 ± 5.06, 23.06 ± 6.25 and 1.26 ± 2.40, respectively, with significant differences found across countries: dentists working in Croatia, Peru and Serbia recorded the highest scores, unlike dentists practicing in Yemen, Syria, and Iraq, who recorded the lowest scores. There were significant, moderately positive correlations between the various scales: SHS and SWLS: r = 0.535, P

Matched MeSH terms: Croatia
Fulltext Geography as non-genetic modulation factor of chicken cecal microbiota

Pin Viso N, Redondo E, Díaz Carrasco JM, Redondo L, Sabio Y Garcia J, Fernández Miyakawa M, et al.

PLoS One, 2021;16(1):e0244724.
PMID: 33406150 DOI: 10.1371/journal.pone.0244724

The gastrointestinal tract of chickens harbors a highly diverse microbiota contributing not only to nutrition, but also to the physiological development of the gastrointestinal tract. Microbiota composition depends on many factors such as the portion of the intestine as well as the diet, age, genotype, or geographical origin of birds. The aim of the present study was to demonstrate the influence of the geographical location over the cecal microbiota from broilers. We used metabarcoding sequencing datasets of the 16S rRNA gene publicly available to compare the composition of the Argentine microbiota against the microbiota of broilers from another seven countries (Germany, Australia, Croatia, Slovenia, United States of America, Hungary, and Malaysia). Geographical location played a dominant role in shaping chicken gut microbiota (Adonis R2 = 0.6325, P = 0.001; Mantel statistic r = 0.1524, P = 4e-04) over any other evaluated factor. The geographical origin particularly affected the relative abundance of the families Bacteroidaceae, Lactobacillaceae, Lachnospiraceae, Ruminococcaceae, and Clostridiaceae. Because of the evident divergence of microbiota among countries we coined the term "local microbiota" as convergent feature that conflates non-genetic factors, in the perspective of human-environmental geography. Local microbiota should be taken into consideration as a native overall threshold value for further appraisals when testing the production performance and performing correlation analysis of gut microbiota modulation against different kind of diet and/or management approaches. In this regard, we described the Argentine poultry cecal microbiota by means of samples both from experimental trials and commercial farms. Likewise, we were able to identify a core microbiota composed of 65 operational taxonomic units assigned to seven phyla and 38 families, with the four most abundant taxa belonging to Bacteroides genus, Rikenellaceae family, Clostridiales order, and Ruminococcaceae family.

Matched MeSH terms: Croatia