Search Results (7)

Macular Telangiectasia (MacTel) is a rare retinal vascular disorder, with Type 3a MacTel being a distinct form characterized by retinal ischemia with the classical findings of MacTel, such as juxtafoveal telangiectasis, right-angled venules, and deep capillary plexus involvement without central nervous system findings. This case presents a novel X-shaped lesion pattern and ischemic features, expanding the known imaging spectrum of MacTel. A 53-year-old male with diabetes and a history of aripiprazole use presented with persistent blurred vision, a black curtain sensation, and metamorphopsia in the right eye. Visual acuity was 0.8 in the right eye and 1.0 in the left. A multimodal imaging approach, including fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FFA), optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA), was used to evaluate structural and vascular abnormalities. Fundus examination revealed an X-shaped hypopigmented lesion with central pigmentation. FAF showed hypoautofluorescence, indicating chronic RPE loss, and no loss of foveal autofluorescence was observed. FFA demonstrated progressive hyperfluorescence with perifoveal aneurysmal and telangiectatic vessels, along with a slightly enlarged foveal avascular zone (FAZ), suggesting ischemic involvement. OCT revealed intraretinal cysts, a disruption of the ellipsoid zone and external limiting membrane, pigment epithelial detachment, and increased choroidal backscattering. OCTA confirmed right-angled venules, aneurysmal telangiectatic vessels, and localized ischemia predominantly affecting the deep capillary plexus. This case highlights a rare variant of Type 3a MacTel with a unique X-shaped lesion. The presence of juxtafoveal telangiectasis, vascular occlusion, right-angled venules, and deep capillary plexus changes supports the diagnosis. Multimodal imaging played a critical role in characterizing the disease and differentiating it from other macular disorders, contributing to an expanded understanding of the clinical and imaging spectrum of MacTel. Full article

Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the FUCA1 gene. This enzyme is responsible for breaking down fucose-containing glycoproteins, glycolipids, and oligosaccharides within the lysosome. Mutations in FUCA1 result in either reduced enzyme activity or complete loss of function, leading to the accumulation of fucose-rich substrates in lysosomes. Lysosomes become engorged with undigested substrates, which leads to secondary storage defects affecting other metabolic pathways. The central nervous system is particularly vulnerable, with lysosomal dysfunction causing microglial activation, inflammation, and neuronal loss, leading to the neurodegenerative symptoms of fucosidosis. Neuroinflammation contributes to secondary damage, including neuronal apoptosis, axonal degeneration, and synaptic dysfunction, exacerbating the disease process. Chronic neuroinflammation impairs synaptic plasticity and neuronal survival, leading to progressive intellectual disability, learning difficulties, and loss of previously acquired skills. Inflammatory cytokines and lysosomal burden in motor neurons and associated pathways contribute to ataxia, spasticity, and hypotonia, which are common motor symptoms in fucosidosis. Elevated neuroinflammatory markers can increase neuronal excitability, leading to the frequent occurrence of epilepsy in affected individuals. So, fucosidosis is characterized by rapid mental and motor loss, along with growth retardation, coarse facial features, hepatosplenomegaly, telangiectasis or angiokeratomas, epilepsy, inguinal hernia, and dysostosis multiplex. Patients usually die at an early age. Treatment of fucosidosis is a great challenge, and there is currently no definitive effective treatment. Hematopoietic cell transplantation studies are ongoing in the treatment of fucosidosis. However, early diagnosis of this disease and treatment can be effective. In addition, the body’s immune system decreases due to chemotherapy applied after transplantation, leaving the body vulnerable to microbes and infections, and the risk of death is high with this treatment. In another treatment method, gene therapy, the use of retroviral vectors, is promising due to their easy integration, high cell efficiency, and safety. In another treatment approach, enzyme replacement therapy, preclinical studies are ongoing for fucosidosis, but the blood–brain barrier is a major obstacle in lysosomal storage diseases affecting the central nervous system. Early diagnosis is important in fucosidosis, a rare disease, due to the delay in the diagnosis of patients identified so far and the rapid progression of the disease. In addition, enzyme replacement therapy, which carries fewer risks, is promising. Full article

Background: Macular telangiectasia (MacTel), also known as idiopathic juxtafoveolar telangiectasis (IJFTs), involves telangiectatic changes in the macular capillary network. The most common variant, MacTel type 2, has distinct clinical features and management strategies. Methods: This study offers a comprehensive review of MacTel and focuses on a series of three patients diagnosed with MacTel type 2 in our clinic. A meticulous ophthalmological evaluation, augmented by high-resolution imaging techniques like optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofluorescence (FAF), fluorescein angiography (FA), and adaptive optics (AOs) imaging, was conducted. Results: The findings revealed normal anterior segment features and a grayish discoloration in the temporal perifoveal area on fundus examination. OCT exhibited hyporeflective cavities in the inner and outer neurosensory retina, along with other changes, while OCT-A identified retinal telangiectatic vessels in the deep capillary plexus. FAF demonstrated increased foveal autofluorescence, while FA initially detected telangiectatic capillaries followed by diffuse perilesional leakage in the later phase. Adaptive optics images showed the cone mosaic pattern. Notably, one patient developed a macular hole as a complication, which was successfully managed surgically. Conclusion: This study underscores the challenges in diagnosing and managing MacTel, emphasizing the importance of a multidisciplinary approach and regular follow-ups for optimal outcomes. Full article

The intracellular redox-active labile iron pool (LIP) is weakly chelated and available for integration into the iron metalloproteins that are involved in diverse cellular processes, including cancer cell-specific metabolic oxidative stress. Abnormal iron metabolism and elevated LIP levels are linked to the poor survival of lung cancer patients, yet the underlying mechanisms remain unclear. Depletion of the LIP in non-small-cell lung cancer cell lines using the doxycycline-inducible overexpression of the ferritin heavy chain (Ft-H) (H1299 and H292), or treatment with deferoxamine (DFO) (H1299 and A549), inhibited cell growth and decreased clonogenic survival. The Ft-H overexpression-induced inhibition of H1299 and H292 cell growth was also accompanied by a significant delay in transit through the S-phase. In addition, both Ft-H overexpression and DFO in H1299 resulted in increased single- and double-strand DNA breaks, supporting the involvement of replication stress in the response to LIP depletion. The Ft-H and DFO treatment also sensitized H1299 to VE-821, an inhibitor of ataxia telangiectasis and Rad2-related (ATR) kinase, highlighting the potential of LIP depletion, combined with DNA damage response modifiers, to alter lung cancer cell responses. In contrast, only DFO treatment effectively reduced the LIP, clonogenic survival, cell growth, and sensitivity to VE-821 in A549 non-small-cell lung cancer cells. Importantly, the Ft-H and DFO sensitized both H1299 and A549 to chemoradiation in vitro, and Ft-H overexpression increased the efficacy of chemoradiation in vivo in H1299. These results support the hypothesis that the depletion of the LIP can induce genomic instability, cell death, and potentiate therapeutic responses to chemoradiation in NSCLC. Full article

We aimed to investigate the prognostic factors for, and treatment efficacy of, intense pulsed light (IPL) treatment with a vascular filter in patients with moderate or severe meibomian gland dysfunction (MGD). In this retrospective observational study, 58 moderate or severe MGD patients who underwent IPL treatment with a vascular filter were enrolled. IPL treatment was administered to the upper and lower eyelids four times at two-week intervals. At baseline, and four weeks after IPL, we evaluated the matrix metalloproteinase (MMP)-9 expression levels, tear break-up times (TBUT), ocular surface staining scores, lid margin telangiectasias, and meibomian gland characteristics. The subjective symptoms and adverse effects were reviewed and recorded. Regression analyses were performed to explore the prognostic factors affecting clinical outcomes. IPL treatment using a vascular filter led to improvements in the TBUT, ocular surface staining score, meibomian gland grade, meibum quality and consistency, lid margin telangiectasia, and symptom score (all p < 0.001). Furthermore, the positivity rate (90.2% to 70.6%, p = 0.013) and expression levels (1.92 ± 1.18 to 1.24 ± 1.18, p < 0.001) of tear MMP-9 improved after the IPL treatment. In multivariate logistic regression analysis, a young age (odds ratio = 0.867, p = 0.007) and a toothpaste-like consistency in the upper lid (odds ratio = 8.449, p = 0.046) were associated with improvements in the meibomian gland grade. No adverse effects were detected. IPL with a vascular filter is a safe and effective treatment for moderate and severe MGD. Age and the meibum consistency in the upper lid are important prognostic factors. Full article

Patients will typically present symptoms of chronic post-radiation colitis and proctitis 8–12 months after finishing their treatment. Endoscopic methods play the main role the treatment of bleeding caused by post-radiation colitis and proctitis. Surgical treatment is required for remained approximately 10% of patients. Here we present a 64 year old female with metastatic breast cancer, who was referred to us for intractable rectal bleeding. Total colonoscopy and rigid rectosigmoidoscopy revealed proctitis, rectal and sigmoidal telangiectasis, multiple necrotic ulcers between 15 to 30 cm from the anal verge, and also huge ishemic ulcer with patchy necrotic areas about 10 cm from the anal verge. This abnormal irradiated part was resected and then mucosectomy of the remnant rectum, both transabdominally and transanally was done. We performed pull-through technique of normal proximal colon to anal region through the remnant rectal wall and finally did coloanal anastomosis. Diverting stoma was not made because of anastomosis in anal region. With this technique we can achieve benefits such as avoidance of harsh dissection in a frozen pelvis and its consequences, we can avoid intra-abdominal anastomosis, there is no need to a diverting stoma and, most important of all, definite bleeding control. Full article

Background: We aimed to describe risk factors for gastrointestinal (GI) bleeding and endoscopic findings in patients with hereditary hemorrhagic telangiectasia (HHT). Methods: This is a prospective study from a referral HHT unit. Endoscopic tests were performed when there was suspicion of GI bleeding, and patients were divided as follows: with, without, and with unsuspected GI involvement. Results: 67 (27.9%) patients with, 28 (11.7%) patients without, and 145 (60.4%) with unsuspected GI involvement were included. Age, tobacco use, endoglin (ENG) mutation, and hemoglobin were associated with GI involvement. Telangiectases were mostly in the stomach and duodenum, but 18.5% of patients with normal esophagogastroduodenoscopy (EGD) had GI involvement in video capsule endoscopy (VCE). Telangiectases ≤ 3 mm and ≤10 per location were most common. Among patients with GI disease, those with hemoglobin < 8 g/dL or transfusion requirements (65.7%) were older and had higher epistaxis severity score (ESS) and larger telangiectases (>3 mm). After a mean follow-up of 34.2 months, patients with GI involvement required more transfusions and more emergency department and hospital admissions, with no differences in mortality. Conclusions: Risk factors for GI involvement have been identified. Patients with GI involvement and severe anemia had larger telangiectases and higher ESS. VCE should be considered in patients with suspicion of GI bleeding, even if EGD is normal. Full article