Reconstructing the face from the skull is important not only for forensic identification but also as a tool that can provide insight into the appearance of individuals from past populations. It ...requires a multidisciplinary approach that combines anthropological knowledge, advanced imaging methods, and artistic skills. In the present study, we demonstrate this process on the skull of an early medieval warrior from Croatia. The skeletal remains were prepared and scanned using multi-slice computed tomography (MSCT) and examined using standard anthropological and radiological methods. The analysis revealed that the remains belonged to a 35–45-year-old male individual who had suffered severe cranial trauma, probably causing his death. From MSCT images, we reconstructed a three-dimensional (3D) model of the skull, on which we digitally positioned cylinders demarking the soft tissue thickness and created the face with a realistic texture. A 3D model of the face was then optimized, printed, and used to produce a clay model. Sculpturing techniques added skin textures and facial features with scars and trauma manifestations. Finally, after constructing a plaster model, the model was painted and refined by adding fine details like eyes and hair, and it was prepared for presentation in the form of a sculpture.
The purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the ...children were recruited from the Croatian National Registry of Early Amblyopia Detection database. LEA Symbols® inline optotypes were used for VA testing at near and distance, binocularly and monocularly. The pass cut-off level was set to ≤0.1 logMAR. The final sample consisted of 58,712 four-year-old children. In total, 83.78% of the children had unremarkable results, and 16.22% of the children were referred to examination. Of those, 92% of the children were referred due to binocular, and 8% of the children due to monocular causes. The children referred due to binocular causes demonstrated a VA of 0.3 ± 0.24, while the children referred due to monocular causes 0.6 ± 0.21. The ROC curve analysis defined the uniform cut-off value for a normative VA of 0.78. We analyzed the largest uniform cohort of 58,712 children, and have determined normative data for binocular and monocular VA tested with gold standard logMAR chart in four-year-old children. The results presented here established no reasoning to further utilize historical protocols in testing VA in preschool children aged ≥ 4 years.
Background. Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the ...novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of uncertain significance (VUS), to clinical phenotype and to set the ground for objective assignment of pathogenicity confidence. Case Presentation. A case report of a female patient with LCA who manifested with nystagmus, night blindness, profound visual deficiency, and peripheral involvement of the retina consistent with RPE65 dystrophy. A thorough clinical examination, diagnostic evaluation, and genetic testing were performed. The patient was a compound heterozygote in trans form: RPE65 c.304G>T, p.(Glu102∗) pathogenic, and RPE65 c.393T>A, p.(Asn131Lys), VUS. The latter variant is absent in healthy controls and is considered harmful on in silico prediction. Conclusions. We conclude that RPE65 c.393T>A, p.(Asn131Lys) contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as likely pathogenic. This being the case, patients with this specific variant are likely candidates for genetic treatment.
The relationship between morphometric measurements (16) and meristic characters (6) was examined in 460 specimens of the European hake (225 females, 210 males and 25 immature ones) caught in the ...central Adriatic Sea. Morphological difference between males and females was not marked. Biometric analyses of the morphometric and meristic characteristics indicated a homogenous morphology stock of M. merluccius in the central Adriatic Sea. Changes in some morphometric characteristics obtained in conjunction with an increase in body length showed that smaller specimens have a longer head, anal and ventral fin than adult specimens. The negative correlation recorded for the maximum and minimum body depth indicated that the body becomes progressively elongated. The meristic characteristics of the European hake from different Mediterranean and NE Atlantic areas are mostly in agreement with the data in our study.
RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in ...the visual cycle. In patients with inherited retinal dystrophy (IRD), precise genetic diagnosis is an indispensable approach as it is required to establish eligibility for the genetic treatment of RPE65-associated IRDs. This case report aims to report the specific phenotype-genotype correlation of the first patient with a homozygous missense variant RPE65 c.499G>T, p. (Asp167Tyr). We report a case of a 66-year-old male who demonstrated a unique phenotype manifesting less severe functional vision deterioration in childhood and adolescence, and extensive nummular pigment clusters. The underlying causes of the differences in the typical bone spicule and atypical nummular pigment clumping are unknown, but suggest that the variant itself influenced the rate of photoreceptor death. Functional studies are needed to define whether the substitution of aspartate impairs the folding of the tertiary RPE65 structure only and does not lead to the complete abolishment of chromophore production, thus explaining the less severe phenotype in adolescence.
It is of utmost importance to define the molecular diagnosis of patients with retinitis pigmentosa (RP) due to existing targeted therapeutic option: voretigene neparvovec.We provide clinical evidence ...for pathogenicity reclassification of variants of uncertain significance (VUSs)
c.1580A>G (p.His527Arg).
A case report of a 10-year-old boy with progressive vision loss. The patient manifested disease highly suggestive of
retinal dystrophy: nyctalopia, fairly good central vision, severely depressed full-field electroretinography responses and complete loss of peripheral fundus aut ofluorescence.
Invitae Inherited Retinal Disorders Panel identified likely pathogenic mutation
c.499G>T (p.Asp167Tyr) and
c.1580A>G (p.His527Arg), variant of uncertain significance. Segregation analysis confirmed that these variants are in
.
We conclude that the variant
c.1580A>G (p.His527Arg) has contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as pathogenic. Therefore, patients with this specific variant in homozygous or compound heterozygous form would likely benefit from genetic treatment based on recombinant adeno-associated virus vector, providing a working
gene to act in place of a mutated RPE65 gene.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Uvod: Procjena vidne funkcije često predstavlja izazov za pedijatra u primarnoj zdravstvenoj zaštiti. Međutim, zahvaljujući jednostavnosti osnovnih metoda procjene vida, pedijatar može adekvatno ...evaluirati vidne funkcije u djece. Test crvenog refleksa kao vitalni dio svakog preventivnog pregleda djeteta u pedijatrijskoj ordinaciji primarne zdravstvene zaštite je najvažniji alat za otkri- vanje opstrukcije vidne osi koja je uzrok nastanka deprivacijske slabovidnosti. Vidna os može biti opstruirana zbog različitih bolesti koje ugrožavaju vid ili život. Cilj: Predstaviti metode procjene vidne oštrine dostupne pedijatru u primarnoj zdravstvenoj zaštiti. Izvori podataka: PubMed, Google Scholar, Scopus, smjernice za preventivne preglede vida dostupne na internetu. Zaključak: U slučajevima sumnje na opstrukciju vidne osi, urgentno upućivanje na pregled dječjem oftalmologu je obavezno.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
PurposeTo assess the association between vitreous hyper-reflective dots (VHD) and the macular thickness changes following uneventful phacoemulsification.MethodsIn this prospective cohort study ...optical coherence tomography (OCT) examinations were performed preoperatively and 1 week, 1 month and 3 months postoperatively in patients undergoing cataract surgery. OCT images were analyzed for retinal central subfield thickness (CST) and preretinal VHDs. Surgeries were recorded for the assessment of lens fragments in the space of Berger.Results111 eyes of 97 patient were enrolled of whom 69 (62.2%) were female. VHDs were seen in 25 eyes (22.5%) at week 1; in 21 eyes (18.9%) at month 1 and in 3 eyes (2.7%) at month 3. In all eyes with VHDs retro-capsular lens fragments were visible immediately after phacoemulsification. The number of VHDs significantly decreased over the postoperative period. There was a moderate correlation between the number of VHDs and CST at 1 month (r = 0.426, p<0.001). In eyes with VHD the CST averaged 238.8±17.6 μm (214-266) at 1 week; 276.1±63.5 μm (231-481) at 1 month and 285.1±122.3 μm (227-785) at 3 months. In eyes with no detectable VHDs CST averaged 235.9±23.3 μm (192-311) at 1 week; 240.1±21.6 μm (200-288) at 1 month and 242.2±21.3 μm (205-289) at 3 months. Although the differences among the assessment points were relatively low, there was a significant difference in general (p<0.001, Friedman test).ConclusionIn conclusion, VHDs seem to cause macular thickening throughout the postoperative course. The origin of VHDs is still unknown; however, they presumably represent lens fragments that provoke subclinical inflammation.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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