Pigment Deposition Research Articles

A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.

A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.

Presumed Unindicated Implantation of Posterior Chamber Phakic Intraocular Lens.

BACKGROUND Refractive surgery is one of the most frequently performed ocular surgeries worldwide. Implantation of the posterior chamber phakic intraocular lens has advantages over laser vision correction, especially in high refractive error cases. We present a case of a young adult women with poor vision who underwent bilateral posterior chamber phakic intraocular lens explantation due to high vault, shallow anterior chambers, and a picture of cone-rod dystrophy. CASE REPORT A 23-year-old woman was referred for poor vision following an implantation of bilateral toric implantable collamer lens (ICL) implantation when she was 18 years old for high myopic astigmatism and anisometropia. On presentation, the best corrected visual acuity was 4-6/200 and 2-3/200 in the right eye and left eye, respectively. Slit lamp examination indicated a clear cornea with pigment deposition on the endothelium, high ICL vault, shallow anterior chamber, and bowing of the iris bilaterally. The patient underwent bilateral removal of the ICLs on separate visits, yet the vision remained unchanged. Diagnostics revealed that the patient had bull's eye maculopathy with atrophy due to her cone-rod dystrophy, which caused the poor vision. CONCLUSIONS This report emphasizes the need for careful and appropriate patient and intraocular size selection for refractive surgery. It indicates the importance of thorough medical examination, including genetic testing, fundus examination, and optical coherence tomography when retinal dystrophy is suspected. Generally, close follow-up is crucial in the setting of high vaulting following ICL implantation to prevent secondary complications.

Имплантация интраокулярной линзы при травматической катаракте: сроки и перспективы

A prospective randomized clinical trial included 30 patients (60 eyes) with traumatic cataract after open eye injury. Patients were divided into 2 groups depending on the time of the operation. The first (n = 15, 30 eyes) was an early operation (1–3 days after the injury). The second (n = 15, 30 eyes) is a late operation (6 or more days after the injury). Research methods – measurement of visual acuity, intraocular pressure (IOP), assessment of inflammation of the anterior chamber, position of the intraocular lens (IOL), etc. The study period was 1, 3, and 6 weeks after surgical treatment. It was revealed that visual acuity with the best correction was noted 6 weeks after the early operation. Also in the group of early cataract surgery, the frequency of postoperative complications (rupture of the posterior capsule, increased IOP, inflammation of the anterior chamber, IOL opacity, posterior synechia, IOL subluxation and pigment deposition on the IOL) was significantly lower than in the late surgery group (p < 0.05). It is recommended to perform cataract surgery and IOL implantation after open eye injuries at an early stage. Keywords: surgery, traumatic cataract, vision, intraocular lens implantation

Edge Creep: Increased Pigmentation at the Border of Choroidal Melanomas Treated with Plaque Brachytherapy

Introduction: There is an increase in pigmentation that occurs in many tumors following plaque brachytherapy for choroidal melanoma. Correctly distinguishing between increased pigment at the tumor border versus true growth is imperative. We performed a retrospective review of patients treated with I-125 brachytherapy for choroidal melanoma at our institution to study this phenomenon. Methods: Records were reviewed for all patients undergoing plaque brachytherapy for uveal melanoma for a 5-year period (N = 195). Patients with iris and anterior tumors were excluded. Tumors treated more than 31 days after presentation were excluded. Fundus images for patients with increased pigmentation at any of the borders of the tumor at 6-month follow-up that extended beyond the initial pigmented margin were included (N = 20; 8 F, 12 M). Imaging at the last follow-up was reviewed, and it was confirmed that all tumors involuted appropriately with no evidence of local recurrence. The date of initial exam, time to treatment, and follow-up interval were recorded for each included patient. Results: Twenty patients (10%) exhibited increased pigment deposition at any of the borders of the tumor at 6-month follow-up that extended beyond the initial pigmented margin. Average tumor thickness was 3.2 mm (1.3–5.1); average largest tumor basal diameter was 11.6 mm (7–15.5). Average time from diagnosis to treatment was 25 days (17–31). Average length of follow-up was 35 months (16–68). No patient developed recurrence during the duration of follow-up, and 1 patient had developed metastasis. Conclusion: We describe the phenomenon of increased pigment deposition, “edge creep,” at the borders of choroidal melanomas treated with plaque brachytherapy that gave the appearance of initial tumor growth but then subsequently remained stable over time. It is important that treating ocular oncologists be aware of this phenomenon to avoid unnecessary diagnosis of local recurrence.

Tolerance with High Yield Potential Is Provided by Lower Na+ Ion Accumulation and Higher Photosynthetic Activity in Tolerant YNU31-2-4 Rice Genotype under Salinity and Multiple Heat and Salinity Stress.

The yield-reduction effect of abiotic stressors such as salinity and heat stresses with the growing world population threatens food security. Although adverse effects of salinity and heat stress on plant growth and production parameters have been documented, in nature, abiotic stresses occur sequentially or simultaneously. In this study, the stress tolerance and yield capacity of Yukinkomai, YNU31-2-4, and YNU SL rice genotypes tested under control (26 °C, 0 mM NaCl), salinity (26 °C, 75 mM NaCl), heat (31 °C, 0 mM NaCl), and heat and salinity (31 °C, 75 mM NaCl) stress combinations at vegetative and reproductive stages with six different scenarios. The results show that salinity and the heat and salinity combination stresses highly reduce plant growth performance and yield capacity. Heat stress during reproduction does not affect the yield but reduces the grain quality. The YNU31-2-4 genotype performs better under heavy salt and heat and salinity stress then the Yukinkomai and YNU SL genotypes. YNU31-2-4 genotypes accumulate less Na+ and more K+ under salt and multiple stresses. In the YNU31-2-4 genotype, low Na+ ion accumulation increases photosynthetic activity and pigment deposition, boosting the yield. Stress lowers the glucose accumulation in dry seeds, but the YNU31-2-4 genotype has a higher glucose accumulation.

The relation between the depth of pigment disposition and men's skin thickness, the age and tattoo locations on the body.

The most important function of the skin is to protect the body against harmful mechanical, physical and chemical factors. Its regenerative capacity is sufficient for self-repair in the event of damage, for example, during tattooing, which can be treated as an invasive procedure introducing pigment molecules into skin layers. In the present research on tattoo pigment deposition, the structure of the dermis and epidermis was evaluated using the standard histological technique with hematoxylin and eosin staining. In addition, statistically significant differences between the depth of pigment deposition on the one hand and age, dermis and epidermis thickness and tattoo location on the other were demonstrated.

Lizards exploit the changing optics of developing chromatophore cells to switch defensive colors during ontogeny

Many animals undergo changes in functional colors during development, requiring the replacement of integument or pigment cells. A classic example of defensive color switching is found in hatchling lizards, which use conspicuous tail colors to deflect predator attacks away from vital organs. These tail colors usually fade to concealing colors during ontogeny. Here, we show that the ontogenetic blue-to-brown tail color change in Acanthodactylus beershebensis lizards results from the changing optical properties of single types of developing chromatophore cells. The blue tail colors of hatchlings are produced by incoherent scattering from premature guanine crystals in underdeveloped iridophore cells. Cryptic tail colors emerge during chromatophore maturation upon reorganization of the guanine crystals into a multilayer reflector concomitantly with pigment deposition in the xanthophores. Ontogenetic changes in adaptive colors can thus arise not via the exchange of different optical systems, but by harnessing the timing of natural chromatophore development. The incoherent scattering blue color here differs from the multilayer interference mechanism used in other blue-tailed lizards, indicating that a similar trait can be generated in at least two ways. This supports a phylogenetic analysis showing that conspicuous tail colors are prevalent in lizards and that they evolved convergently. Our results provide an explanation for why certain lizards lose their defensive colors during ontogeny and yield a hypothesis for the evolution of transiently functional adaptive colors.

Primary observations of EVO ICL implantation for high myopia with concave iris

PurposeTo investigate the morphological changes of concave iris in myopic patients after EVO implantable collamer lens (ICL) implantation.MethodsEVO ICL candidates with posterior bowing iris were observed using ultrasound biometric microscopy (UBM) in this prospective nonrandomized observational study. Forty patients were enrolled, with 20 patients in the concave iris group and the other 20 patients in the control group. None of the patients underwent laser peripheral iridotomy. All patients received preoperative and postoperative examinations, which included uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), subjective manifest refraction and intraocular pressure. UBM was used to observe iris curvature (IC), irido-corneal angle (ICA), posterior chamber angle (PCA), iris-lens contact distance (ILCD), iris-zonule distance (IZD) and ciliary process length (CPL). Anterior chamber angle pigment was observed by gonioscopy. The preoperative and postoperative data were analyzed using SPSS.ResultsThe average follow-up period was 13.3 ± 5.3 months. The mean efficacy indices were 1.10 ± 0.13 and 1.07 ± 0.11 (P = 0.58), and the safety indices were 1.19 ± 0.09 and 1.18 ± 0.17 in the control group and the concave iris group (P = 0.93), respectively. The IOP postoperatively were 14.13 ± 2.02 mmHg and 14.69 ± 1.59 mmHg in control and concave iris groups (P = 0.37). Preoperatively, the concave iris group was presented with greater IC (P < 0.0001), longer ILCD (P < 0.0001), wider ICA (P = 0.004), narrower PCA (P = 0.01), and shorter IZD (P = 0.03) than the control group. In the concave iris group, IC, ILCD and ICA were significantly decreased after ICL implantation (P < 0.0001), while PCA and IZD were significantly increased (P = 0.03 and P = 0.04, respectively). Postoperative IC, ILCD, ICA, PCA and IZD were not statistically different between groups (P > 0.05). There was no significant difference in pigment deposition grades between the two groups (P = 0.37).ConclusionAfter EVO ICL implantation, the morphology of concave iris was significantly improved, which may reduce the risk of intraocular pigment dissemination caused by iris concavity. The concave iris has no impact on the safety of EVO ICL surgery during the follow-up.

Pentosan polysulfate maculopathy: a brief primer for general practitioners, ophthalmologists, optometrists and urologists.

Pentosan polysulfate maculopathy: a brief primer for general practitioners, ophthalmologists, optometrists and urologists.

Esophageal anthracosis occurred after treatment of esophageal tuberculosis secondary to mediastinal tuberculous lymphadenitis: a rare case report

BackgroundAnthracosis is a disease generally considered to be in the lungs resulting from exposure to industrial dust in the workplace. Esophageal anthracosis is a fairly rare phenomenon and shows a strong correlation with tuberculosis. Moreover, esophageal involvement in tuberculosis is also rare. We here present an extremely rare case in which follow-up gastroesophageal endoscopy revealed a mass with a sunken, black area in the center and raised ring-like pattern in the surrounding mucosa resembling malignant melanoma. Uncovering the patient’s tuberculosis history finally avoided a misdiagnosis or overtreatment.Case presentationA 67-year-old male patient was admitted to the hospital due to “repeated chest pain for 1 month”. Endoscopic ultrasonography and contrast-enhanced CT scans revealed a mass adjacent to the esophageal wall with unclear boundaries. Aspiration biopsy confirmed that esophageal tuberculosis was caused by nearby mediastinal tuberculous lymphadenitis. After a standard anti-tuberculosis treatment regimen, the patient achieved a favorable prognosis. The follow-up gastroesophageal endoscopy showed a sunken black lesion with elevated peripheral mucosa replacing the original tuberculous mass, which was thought to be anthracosis, a disease that rarely occurs in the esophagus.ConclusionThe diagnosis of tuberculosis should be taken into consideration when a submucosal mass appears in the middle part of the esophagus. Endoscopic ultrasonography can effectively contribute to a definite diagnosis. Moreover, this is the first case of esophageal anthracosis observed only 1 year after the treatment of tuberculosis, indicating esophageal anthracosis can be a short-term disease. The traction of the reduction of tubercular mediastinal lymph nodes after anti-tuberculosis treatment may create a circumstance for pigmentation or dust deposition.

Transcriptome and proteome profiling revealed the key genes and pathways involved in the fiber quality formation in brown cotton

Colored cotton is also called eco-cotton because of its natural color fiber. It is inferior in yield and quality than white cotton. The underlying regulatory genes involved in fiber quality and pigment synthesis are not well understood. This study aimed to investigate the transcriptomic and proteomic changes during fiber development in a brown cotton cultivar (Z161) and a white cotton cultivar. The differential proteins with the same expression trend as genes were significantly and positively correlated with corresponding fold changes in expression. Enrichment analysis revealed that Z161, enriched in fiber elongation genes related to flavonoid biosynthesis, phenylalanine metabolism, glutathione metabolism, and many more genes (proteins) are up-regulated. Moreover, 164 glycosyltransferases genes, 15 MYB-bHLH-WD40 genes, and other transcription factors such as C2H2 (12), ERF (11), and NAC (7) were preferentially expressed in Z161. Weighted correlation network analysis identified fatty acid synthesis and energy metabolism as the principal metabolic pathways in both cotton genotypes during fiber development. Identified 15 hub genes will provide important insights for genetic manipulation of fiber quality and pigment deposition balance in brown cotton fibers.

Genome editing of the vermilion locus generates a visible eye color marker for Oncopeltusfasciatus

Insects display a vast array of eye and body colors. Genes encoding products involved in biosynthesis and deposition of pigments are ideal genetic markers, contributing, for example, to the power of Drosophila genetics. Oncopeltusfasciatus is an emerging model for hemimetabolous insects, a member of the piercing-sucking feeding order Hemiptera, that includes pests and disease vectors. To identify candidate visible markers for O.fasciatus, we used parental and nymphal RNAi to identify genes that altered eye or body color while having no deleterious effects on viability. We selected Of-vermilion for CRISPR/Cas9 genome editing, generating three independent loss-of-function mutant lines. These studies mapped Of-vermilion to the X-chromosome, the first assignment of a gene to a chromosome in this species. Of-vermilion homozygotes have bright red, rather than black, eyes and are fully viable and fertile. We used these mutants to verify a role for Of-xdh1, ortholog of Drosophilarosy, in contributing to red pigmentation using RNAi. Rather than wild-type-like red bodies, bugs lacking both vermilion and xdh1 have bright yellow bodies, suggesting that ommochromes and pteridines contribute to O.fasciatus body color. Our studies generated the first gene-based visible marker for O.fasciatus and expanded the genetic toolkit for this model system.

Effect of VvLaeA on the growth and development of Beauveria bassiana

It is unclear how VvLaeA functions in regulating the growth and development of Volvariella volvacea (Bull. ex. Fr.) Sing.. Firstly, bioinformatics analysis of VvLaeA was carried out in this study. Subsequently, the Vvgpd promoter and the open reading frame (ORF) fragment of VvlaeA were amplified and fused by polymerase chain reaction (PCR). The fusion fragment was cloned into the pK2 (bar) plasmid. The recombinant construct pK2(bar)-OEVvlaeA was transfected into Beauveria bassiana by Agrobacterium tumefaciens-mediated transformation. Finally, the growth and development of the transformants were examined. The results showed that VvLaeA shared a low homology with similar proteins in other fungi. Compared with the wild type, the colony diameter of the transformant was significantly increased. However, the pigment deposition, conidial yields and germination rates were significantly decreased. The overexpression strains were more sensitive to stresses than that of the wild type. Further studies showed the conidial cell wall properties of the transformants were altered, and the expressions of genes related to the conidial development were significantly down-regulated. Collectively, VvLaeA increased the growth rate of B. bassiana strains and negatively regulated the pigmentation and conidial development, which shed a light for the functional identification of straw mushroom genes.

A review of the presentations and treatment of oral pigmentation.

BackgroundOral pigmentation can be either normal or abnormal discolouration of the oral mucosa.&#x0D; Objective: To help clinicians establish a better approach towards the care of patients with pigmented oral lesions and to establish early diagnosis and treatment of such conditions.&#x0D; Data source: Works of literature concerning oral pigmentations, clinical features and treatment were reviewed thoroughly from renowned electronic databases such as PubMed, Medline, Google Scholar, and Cochrane Library and personal clinical experience in managing such conditions. The following words were used for the search: oral pigmentation, aetiology, and clinical presentations.&#x0D; Findings: Oral pigmentation presents in various clinical patterns that can range from just physiologic changes to oral manifestations of systemic diseases and malignancies. Oral pigmentation may be physiological or pathological. Knowledge of the different presentations of oral pigmented lesions is quite crucial to improve and mastering the skill of differential diagnosis, definitive diagnosis and prompt treatment. The deposition of pigments in oral tissues may be due to various etiological factors. It can arise from intrinsic and extrinsic factors and can be physiological or pathological.&#x0D; Conclusion: A good understanding of the various presentations of oral pigmented lesions would aid in the proper diagnosis and treatment of the condition.&#x0D;

Artifact-Removed Quantitative Analysis of Choriocapillaris Flow Voids.

To investigate choriocapillaris flow voids (FV) with a new optical coherence tomography angiography (OCTA) image processing strategy that can eliminate artifacts caused by vitreous opacities, sub-retinal pigment epithelium fluid and deposits, and subretinal fluid (SRF) by thresholding the en-face OCT image of the outer retina. We retrospectively reviewed medical records of patients with drusen and patients with active central serous chorioretinopathy (CSC). FV number (FVn), average area (FVav), and maximum area (FVmax) and the percentage of nonperfused choriocapillaris area (PNPCA) obtained using the proposed strategy were compared with those obtained by removing only artifacts caused by the superficial capillary plexus (SCP). The SRF group included 21 eyes with active CSC and the drusen group included 29 eyes with nonexudative age-related macular degeneration. FVav, FVmax, FVn, and PNPCA obtained using the algorithm were significantly lower than those obtained by removing only SCP-related artefacts in both groups (all p<0.05). The algorithm was also able to remove 96.9% of artifacts secondary to vitreous opacities and all artifacts secondary to serous pigment epithelial detachments. Choriocapillaris nonperfusion areas on OCTA images may be overestimated in eyes with RPE abnormalities and SRF due to artifacts. These artifact areas on choriocapillaris OCTA images can be removed using thresholded images of the outer retina en-face OCT scans. Our new artifact-removal strategy is useful in the assessment of choriocapillaris FV in eyes with SRF, drusen, drusen-like deposits, and pigment epithelial detachment.

Clinical profile, demographic distribution, and outcomes of ocular siderosis: Electronic medical record-driven big data analytics from an eye care network in India.

To describe the demographics, clinical profile, and outcomes of ocular siderosis in patients presenting to a multi-tier ophthalmology hospital network in India. This cross-sectional and hospital-based study included 3,082,727 new patients who presented between August 2010 and December 2021. Patients with a clinical diagnosis of ocular siderosis in at least one eye were included. Overall, 58 eyes of 57 patients (0.002%) were diagnosed with ocular siderosis. The majority were men (96.49%) and had unilateral (98.25%) affliction. The most common age group at presentation was during the third decade of life with 24 patients (42.11%). A clear history of ocular trauma was documented in 47 patients (81.03%). Major clinical signs included corneal pigment deposition in nearly half of the eyes (27/58 eyes, 46.55%), corneal scar (20/58 eyes, 34.48%), cataract (22/58 eyes, 37.93%) and retinal detachment (11/58 eyes, 18.96%). The intraocular foreign body (IOFB) was anatomically localized in a majority of the eyes (i.e., 45/58 eyes, 77.59%). The most common location of the IOFB was in the posterior segment (22/58 eyes, 37.93%). The eyes that underwent a vitreoretinal surgery with removal of IOFB had a slightly better BCVA (1.0 ± 1.01) when compared to eyes with non-removal of IOFB (1.58 ± 1.00). Ocular siderosis is a rare sight-threatening entity, with half of the affected eyes exhibiting severe visual impairment. Majority of the eyes in ocular siderosis will have a detectable IOFB. Surgical removal of IOFB may lead to a better visual gain when compared to non-removal.

Reconstruction of a Forearm Radiation Ulcer Using an Anterolateral Thigh Flap: A Case Report

We present a rare case of a forearm radiation ulcer. Recently, technological advances in intravascular treatments involving X-ray radiography have enabled the application of this treatment in more patients. This has caused more frequent problems due to radiation ulcers. Here we report the case of a 54-year-old man who developed an ulcer on his left forearm six months after placing a stent graft to treat an abdominal aortic aneurysm. A radiation ulcer was diagnosed because of the distance between the position of the ulcer and pigment deposition in the lateral abdominal region and because of the following pathological findings: coagulative necrosis and fibrinoid degeneration and narrowing of the lumen in the small blood vessels. The ulcer was treated by debridement (skin defect size, 22 × 10 cm), followed by reconstruction with an anterolateral thigh flap (23 × 12 cm). Cosmetic and functional improvements were observed, with the latter indicated by an increased range of motion.

β-Catenin-activated inflammatory hepatocellular adenoma with pigmentation and atypical features: a case report.

Hepatocellular adenomas are rare diseases, defined as benign liver neoplasms composed of cells with hepatocellular differentiation. Differential diagnosis of hepatocellular adenoma from other lesions, including focal nodular hyperplasia and hepatocellular carcinoma, is crucial to determine treatment strategy. We describe a case of β-catenin-activated inflammatory hepatocellular adenoma with malignant transformation. A 50-year-old man with a suspected liver tumor, based on abdominal ultrasonography findings, was referred to our hospital. Contrast-enhanced computed tomography and magnetic resonance imaging revealed a liver tumor in S2 which was enhanced in the arterial phase to the delayed phase. Based on diagnostic imaging findings, hepatocellular adenoma or focal nodular hyperplasia was suspected. We considered the possibility of malignant potential because of the enlargement of the lesion. Thus, we performed a laparoscopic hepatectomy. Histological examination showed pigment deposition in the hepatocytes, which was determined to be lipofuscin. Mild nuclear swelling and atypia in the tumor area indicated nodular growth. Based on the histological and immunohistochemical findings, the diagnosis was ꞵ-catenin-activated inflammatory hepatocellular adenoma with atypical features. The imaging features of hepatocellular adenoma and focal nodular hyperplasia are similar, but if the tumor tends to grow, surgical treatment should be performed because of the possibility of malignant hepatocellular adenoma.

Evaluation of guinea fowls by genetic markers of plumage color

The work was carried out at LLC “Genofond” of the Moscow region on gray-speckled, Zagorsk white-breasted, blue and cream guinea fowls of the VNITIP selection. The bird taken for the experiment was bred in “itself” for a long time and did not give splitting in plumage color. The aim of the work was to find methods for separating guinea fowls by sex at an early age, based on the use of marker genes and their modifiers. It has been established that gray-speckled, blue and Zagorsk white-breasted guinea fowls belong to the eumelanin phenotype in terms of plumage color. The deposition of eumelanin pigment in down and feathers of guinea fowls is controlled by the gene alleles of the E/e locus. Limitation of pigment deposition in feathers, certain parts of the body, Zagorsk white-breasted guinea fowls is determined by the action of the Zn/zn (Zonal) gene, the manifestation of pearl spots is determined by the action of the Sp/sp gene, the autosomal gene Bl (Blokator) determines the saturation of eumelanin colors, and Ig (Inhibitor) blocks the deposition of the pheomelanin pigment. According to the color of the plumage, cream guinea fowls belong to the pheomelanin phenotype and are distinguished by the white-cream color of the plumage. The presence in the plumage of pheomelanin controlled by the genes for silverness “S” and goldenness “s” and the presence of the Ig (Inhibitor) gene blocking the deposition of the pigment pheomelanin in the down and re-determines the autosex color of the plumage. Based on this, the work concluded that cream guinea fowls are promising in creating an autosex cross on their basis.

Dermoscopic Findings of Clonal Seborrheic Keratosis and Pigmented Basal Cell Carcinoma in the Skin of Color Patients - A Comparison.

Dermoscopic Findings of Clonal Seborrheic Keratosis and Pigmented Basal Cell Carcinoma in the Skin of Color Patients - A Comparison.