Genetic Predisposition to Primary Lactose Intolerance Does Not Influence Dairy Intake and Health-Related Quality of Life in Romanian Children: A Hospital-Based Cross-Sectional Study.

BACKGROUND: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a link between PLI, dairy intake, and quality of life (QoL) is limited in children. AIM: This study investigates the link between LCT polymorphisms and suggestive symptoms and the influence of the genetic predisposition to PLI on dairy intake and QoL in Romanian children. MATERIALS AND METHODS: We recruited consecutive children evaluated in our ambulatory clinic. We asked all participants to complete a visual-analog symptoms scale, a dairy intake, and a QoL questionnaire. We used strip genotyping to identify genetic predisposition to PLI. RESULTS: 51.7% of children had a CC genotype, and 34.5% also had a GG genotype. Most children reported no or mild symptoms. Dairy intake and QoL were similar across study groups. CONCLUSIONS: Our study shows that genetic predisposition does not necessarily assume the presence of specific symptoms. Genetic predisposition to PLI did not lead to dairy avoidance, nor did it negatively influence our children's QoL.

Aflibercept Versus Bevacizumab as First-Line Therapy in Age-Related Macular Degeneration.

BACKGROUND: AMD (age-related macular degeneration) is the main cause of central vision loss in the population over 60 years old. AMD does not affect peripheral vision and complete blindness does not occur, instead, central vision is affected both for distance and for near. The purpose of this study is to evaluate the neovascular form of AMD treatment and compare ocular and systemic effects after intravitreal injection of aflibercept, respectively after bevacizumab when administered in comparable dosages and regimens. We conducted a retrospective, single-center study from June 2021 to December 2022 and enrolled 20 patients with neovascular AMD who had not received any prior treatment for this condition. We randomly assigned them to two groups of 10: group one received aflibercept and group two received bevacizumab as intravitreal injections under aseptic conditions. We excluded 2 patients who did not meet the criteria and ended up with two groups of 9 patients who received monocular treatment. We gave the patients 3 monthly injections of anti-VEGF agent and followed them up at 1 month, 3 months, and 9 months after the treatment. We assessed their visual acuity, intraocular pressure and OCT appearance at each follow-up visit. The primary outcome was visual acuity. All 18 patients included in the study reported an improvement in visual acuity after the intervention. When comparing the two anti-VEGF agents, data revealed the effect of aflibercept was prompter and more long-lasting. Areas of retinal ischemia appeared in both cases. However, they were observed faster in the case of patients treated with aflibercept. Thus, neovascular AMD is a disease that occurs with age, it can be early detected by OCT and slowed the progression to central blindness with intravitreal treatment.

The role of Anti-VEGF agents in treatment of neovascular glaucoma.

Aim: The aim of this study was to show the efficacy of intravitreal treatment with Bevacizumab (Avastin) in patients with secondary neovascular glaucoma, in different stages of the disease. Method: A retrospective study was performed on 67 patients with neovascular glaucoma. The main parameters evaluated were the patients' history, slit lamp examination, visual acuity, ocular tonometry, fundus examination, gonioscopy, and visual field. Results: It was observed that the pathology had a preponderance in males of the 6th decade, with frequently unilateral damage. Patients were referred to an ophthalmologist when the diseases reached an advanced stage, usually when the visual acuity had no light perception and the intraocular pressure was over 45 mmHg. However, the treatment with Avastin intravitreal showed a good evolution, with regression of neovessels in the first 4-7 days and maintenance of intraocular pressure within normal limits in about 60% of cases, 3 months after injection. Conclusion: The most effective treatment in secondary neovascular glaucoma is the correct therapy of the main disease. The association of Avastin and laser photocoagulation leads to regression in iris and retinal neovessels. Abbreviations: anti-VEGF = anti-Vascular Endothelial Growth Factor, PDGF = Platelet Derived Growth Factor, bFGF = basic Fibroblast Growth Factor.

Anthropometric and metabolic profile of children with gene polymorphisms for primary lactose intolerance.

Primary lactose intolerance is caused by a genetically programmed loss in lactase production after 5-6 years of age. Milk and dairy products are often incriminated as a cause of gastrointestinal symptoms. Recent studies show that lactase persistence in adult life correlates with higher anthropometric indexes and an altered metabolic profile. We aimed to assess whether the presence of gene polymorphisms for primary lactose intolerance has an influence on the anthropometric and metabolic profile of children. We conducted a cross-sectional study, recruiting consecutive children evaluated at the 2nd Pediatric Clinic, Timisoara from May to August 2016. We enrolled 87 children aged 6-17 years [mean age 10.64±3.51 years; 45 (51.72%) girls]. Subjects were asked to complete an analogue visual scale of symptoms. We measured weight, height, blood pressure and calculated body mass index. The metabolic profile included fasting blood glucose, triglycerides and HDL cholesterol levels. We used strip genotyping to identify gene polymorphisms for primary lactose intolerance. According to the results, our study population was grouped into lactose tolerant (n=42) and lactose intolerant (n=45) groups. No differences were found in regards to weight, height, body mass index and blood pressure between the two study groups. Glucose, triglycerides and HDL cholesterol were similar in the lactose intolerant and lactose tolerant children. The presence of gene polymorphisms for primary lactose intolerance did not influence the children's anthropometric and metabolic profile.