Dietary Diabetes Risk Reduction Score (DDRRS) and Breast Cancer Risk: A Case-Control Study in Iran.

INTRODUCTION: Given the role of type 2 diabetes and insulin resistance in tumor initiation, we hypothesized that following a diet that reduces the risk of type 2 diabetes could also reduce the risk of breast cancer. Herein, we conducted a case-control study to investigate the association between dietary diabetes risk reduction score and breast cancer risk in Iranian women. METHOD: We recruited 136 newly diagnosed cases and 272 age-matched hospitalized controls from referral hospitals. A valid and reliable 168-item food frequency questionnaire (FFQ) was used to collect the data on dietary intake. We used Multivariate Logistic regression to assess the odds ratio (OR) with 95% confidence interval (CI) of breast cancer by the dietary diabetes risk reduction score tertiles. RESULTS: After adjusting for confounding variables, no association was seen between dietary diabetes risk reduction score and breast cancer risk (OR = 0.65, 95% CI: 0.37-1.14). However, after stratification by menopausal status, a decreased risk was observed between adherence to dietary diabetes risk reduction score and breast cancer risk in postmenopausal individuals (OR = 0.43, 95% CI: 0.19-0.99). CONCLUSION: The present study states that there is no significant relationship between the dietary diabetes risk reduction score and the risk of breast cancer. However, adherence to dietary diabetes risk reduction score could have a preventive role for breast cancer among postmenopausal women.

Dietary amino acid patterns and cardiometabolic risk factors among subjects with obesity; a cross-sectional study.

BACKGROUND: The prevalence of obesity is a growing global public health concern. Certain dietary amino acids have been shown to have a potential therapeutic role in improving metabolic syndrome parameters and body composition in individuals with obesity. However, some amino acids have been linked to an increased risk of cardiometabolic disorders. This cross-sectional study aims to investigate the association between dietary amino acid patterns and cardiometabolic risk factors in individuals with obesity. METHODS: This cross-sectional study included 335 participants with obesity (57.9% males and 41.5% females) from Tabriz and Tehran, Iran. The participants were between the ages of 20-50, with a body mass index (BMI) of 30 kg/m2 or higher, and free from certain medical conditions. The study examined participants' general characteristics, conducted anthropometric assessments, dietary assessments, and biochemical assessments. The study also used principal component analysis to identify amino acid intake patterns and determined the association between these patterns and cardiometabolic risk factors in individuals with obesity. RESULTS: Upon adjusting for potential confounders, the study found that individuals in the third tertiles of pattern 1 and 2 were more likely to have lower LDL levels (OR = 0.99 and 95% CI (0.98-0.99)) for both. Additionally, a significant decrease in total cholesterol was observed in the third tertiles of pattern 2 in model II (OR = 0.99, 95% CI (0.98-0.99)). These findings suggest a potential cardioprotective effect of these amino acid patterns in managing cardiometabolic risk factors in individuals with obesity. CONCLUSIONS: This study found that two identified amino acid patterns were associated with lower serum LDL and total cholesterol levels, while a third pattern was associated with higher serum triglycerides. The specific amino acids contributing to these patterns highlight the importance of targeted dietary interventions in managing cardiometabolic risk factors in individuals with obesity.

Dietary fatty acid pattern and its association with metabolic profile among overweight and obese adults.

BACKGROUND: Numerous studies have revealed the role of dietary fatty acids in human health. However, few studies have evaluated dietary fatty acid patterns and their association with metabolic parameters. The current study aimed to explore the association between dietary fatty acid patterns and risk factors for metabolic syndrome (MetS) among overweight and obese adults. METHODS: This cross-sectional study involved 340 participants who were overweight or obese. The study included assessments of body composition and anthropometric measurements. Dietary fatty acid consumption was evaluated using a validated Food Frequency Questionnaire (FFQ) containing 168 items. Additionally, biochemical parameters, including serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), fasting serum glucose (FSG), and insulin levels, were measured using enzymatic methods. Fatty acid patterns were determined by principal component analysis (PCA), and the association between these dietary FA patterns and risk factors related to MetS components was assessed using logistic regression. RESULTS: Factor analysis conducted in this study explored three dietary fatty acid patterns: saturated fatty acids (SFA), polyunsaturated fatty acids (PUFA), and long-chain combined fatty acids (LC-CFA). Those at the highest tertile of the SFA pattern had lower diastolic blood pressure (DBP) (P = 0.03). Low-density lipoprotein cholesterol (LDL) was lower in the second and third tertiles (P ≤ 0.05). Also, higher fasting blood glucose (FBS) was observed in the second and third tertiles (P < 0.05), and the homeostatic model assessment of insulin resistance (HOMA-IR) was higher in the third tertile (P = 0.049). In the PUFA pattern, FBS was lower in the third tertile (P = 0.03). In the LC-CFA pattern, lower TC was achieved in higher tertiles (P = 0.04). CONCLUSION: Our findings demonstrated that consuming high and moderate SFA patterns is associated with higher FBS and HOMA-IR. Also, increased consumption of SCFAs is related to lower DPB and LDL. Individuals who consumed more PUFA, especially linoleic acid, had lower FBS. These outcomes might be beneficial in managing MetS and leading to a new field of research.

The Importance of Personal and Familial Factors on Breastfeeding Intention and Practices, and Postpartum Distress during the Pandemic: A Longitudinal Observational Study.

BACKGROUND: The COVID-19 pandemic has significantly impacted pregnant and breastfeeding women. Both low- and high-risk groups adopted preventive approaches such as mask-wearing and handwashing to slow down and prevent viral transmission during critical periods that may affect mother-child interactions. METHODS: A longitudinal observational study was conducted with primiparous women recruited using convenience sampling from the postpartum care ward of Afzalipour Teaching Hospital in Kerman from August 1, 2020 to March 30, 2021. The research questionnaires included demographic information, preventive behaviors, breastfeeding intention and practices, postpartum distress, and Edinburgh Postpartum Depression Scale. All the questionnaires were self-reported online in three stages: before discharge from the postpartum ward, the first month after delivery, and the third month after delivery. RESULTS: A Total of 160 primiparous women were included. The results showed significant changes in preventive behaviors and postpartum distress levels during the study. Breastfeeding intention and practices were negatively affected by postpartum distress (P = 0.034), unwanted pregnancies (P = 0.009), and cesarean delivery (P < 0.001). Postpartum distress was directly affected by the presence of depression (P < 0.001). Preventive behaviors at discharge were significantly associated with postpartum distress three months after delivery (P = 0.013). The study also found an association between women's and partner's education, unwanted pregnancy, and cesarean delivery that determined postpartum distress. CONCLUSIONS: Pandemic restrictions did not affect breastfeeding intentions or practices, possibly due to sufficient social and family support during the pandemic. However, robust guidelines are required to increase enable women's access to specializede care to cope with future pandemics, particularly during the first few weeks after childbirth.

Prenatal exposure to ambient air pollution and risk of fetal overgrowth: Systematic review of cohort studies.

OBJECTIVES: Fetal overgrowth has detrimental effects on both the mother and the fetus. The global issue of ambient air pollution has been found to contribute to fetal overgrowth through various pathways. This study aimed to identify the association between prenatal exposure to ambient air pollution and the risk of fetal overgrowth. METHODS: We identified articles between January 2013 and February 2024 by searching the Web of Sciences(WoS), PubMed, Proquest, Scopus, and Google Scholar databases. Quality assessment was performed using the Newcastle Ottawa scale. This review was provided based on the PRISMA guideline and registered with PROSPERO, "CRD42023488936". RESULTS: The search generated 1719 studies, of which 22 cohort studies were included involving 3,480,041 participants. Results on the effects of air pollutants on fetal overgrowth are inconsistent because they vary in population and geographic region. But in general, the results indicate that prenatal exposure to air pollutants, specifically PM2.5, NO2, and SO2, is linked to a higher likelihood of fetal overgrowth(macrosomia and large for gestational age). Nevertheless, the relationship between CO and O3 pollution and fetal overgrowth remains uncertain. Furthermore, PM10 has a limited effect on fetal overgrowth. It is essential to consider the time that reproductive-age women are exposed to air pollution. Exposure to air pollutants before conception and throughout pregnancy has a substantial impact on the fetus's vulnerability to overgrowth. CONCLUSIONS: Fetal overgrowth has implications for the health of both mother and fetus. fetal overgrowth can cause cardiovascular diseases, obesity, type 2 diabetes, and other diseases in adulthood, so it is considered an important issue for the health of the future generation. Contrary to popular belief that air pollution leads to intrauterine growth restriction and low birth weight, this study highlights that one of the adverse consequences of air pollution is macrosomia or LGA during pregnancy. Therefore governments must focus on implementing initiatives that aim to reduce pregnant women's exposure to ambient air pollution to ensure the health of future generations.

Nurses' perception of troubled conscience in intensive care units: a qualitative study.

BACKGROUND: Troubled conscience results from the lack of attention to the voice of conscience. Regarding the fact that ICU healthcare workers are constantly faced with stressful and challenging situations, they often experience a troubled conscience. AIM: This study aimed to explain the factors leading to troubled conscience and identify the consequences of troubled conscience among ICU nurses. METHODS: Qualitative content analysis was used to answer the research question. A total of 18 ICU nurses were selected to participate in this study using purposive sampling. Data were collected using face-to-face, semi-structured interviews. FINDINGS: Four categories of "carelessness", "contextual challenges", "non-supportive and unpredictable structure" and "whirlpool of troubled conscience" were shown to constitute the main causes of troubled conscience among ICU nurses. CONCLUSION: Troubled conscience negatively impacts nurses and is associated with psychological/behavioral changes among them. The identification and explanation of troubled conscience help healthcare providers to confront it and manage its causes.

Establishing the relationship between Polycyclic Aromatic Hydrocarbons (PAHs) exposure and male infertility: A systematic review.

It has been demonstrated that human exposure to environmental chemicals may have sperm genotoxic potentiality. Among the different classes, Polycyclic Aromatic Hydrocarbons (PAHs) have been receiving attention in recent years due to reports of sperm geno-toxicity, a series of reproductive defects and male infertility. This review aims to substantiate the effects of PAHs exposure on male infertility, with focus on the sperm characteristics (count, concentration, volume, motility, DNA damage, and morphology). To this end, international databases such as Cochrane Library, PubMed, Web of Science, Embase Ovid, Scopus, and Google Scholar were used to conduct a systematic search for papers on the subject, based on PRISMA guidelines, published up to 24 March 2022. The Newcastle-Ottawa Scale was subsequently used to assess the quality of the studies. The results showed that there is a significant negative relationship between PAHs metabolites and sperm volume, concentration, motility, morphology, as well as an observed DNA degeneration. Also, the CYP1A1 genotype polymorphisms were considered as a representative of PAHs exposure to infertility; the review highlights that polymorphisms of this genotype were more common in the infertile people. In overall, this work provides a solid summary of the existing works correlating PAHs exposure and male infertility, which could impulse further protective measures and informative campaigns on users, workers, and general population.

Dietary iron and the risk of lung cancer.

Animal models have suggested the carcinogenic effect of iron due to its oxidative potential. The lung is particularly vulnerable to oxidative stress. However, epidemiological studies investigating the association between dietary iron and the risk of lung cancer have reported inconclusive results. In this systematic review and meta-analysis, we aimed to clarify this association. Methods: We searched PubMed, Web of Science, Scopus and Google scholar for eligible articles published through May 2023 reporting the Relative Risk (RR), Hazard Ratio (HR) or Odds Ratio (OR) with 95% confidence interval (95% CI). Case-control and cohort studies that examined the relationship between dietary iron and lung cancer risk were included and review and meta-analyses articles, experimental studies, abstracts, letters to editor and studies with insufficient data were excluded. Finally, three case-control studies and 6 cohort studies were included. Random effect models were used to calculate the pooled results. Results: Nine studies (cases n=21,943, participants n=1,542,993) were included. There were no significant associations between the highest dietary total iron (heme and non-heme) (RR: 1.09, 95% CI: 0.78 to 1.51) or heme iron (RR: 1.01, 95% CI: 0.73 to 1.38) intake compared to the lowest intake with lung cancer risk. Null-associations were also observed in the subgroup analysis based on smoking status and lung cancer histology. However, in the subgroup of women (cases n=5074), heme iron was associated with a 14% increase in the risk of lung cancer (RR: 1.14, 95% CI: 1.01 to 1.29). Conclusions: The current results demonstrated that there is no significant relationship between dietary iron intake and the risk of lung cancer. However, a positive association was observed between dietary heme iron and the risk of lung cancer in women, which may require further investigation.

Worldwide prevalence of microbial agents' coinfection among COVID-19 patients: A comprehensive updated systematic review and meta-analysis.

BACKGROUND: To provide information about pathogens' coinfection prevalence with SARS-CoV-2 could be a real help to save patients' lives. This study aims to evaluate the pathogens' coinfection prevalence among COVID-19 patients. METHOD: In order to find all of the relevant articles, we used systematic search approach. Research-based databases including PubMed, Web of Science, Embase, and Scopus, without language restrictions, were searched to identify the relevant bacterial, fungal, and viral coinfections among COVID-19 cases from December 1, 2019, to August 23, 2021. In order to dig deeper, other scientific repositories such as Medrxiv were probed. RESULTS: A total of 13,023 studies were found through systematic search. After thorough analysis, only 64 studies with 61,547 patients were included in the study. The most common causative agents of coinfection among COVID-19 patients were bacteria (pooled prevalence: 20.97%; 95% CI: 15.95-26.46; I2 : 99.9%) and less frequent were virus coinfections (pooled prevalence: 12.58%; 95% CI: 7.31-18.96; I2 : 98.7%). The pooled prevalence of fungal coinfections was also 12.60% (95% CI: 7.84-17.36; I2 : 98.3%). Meta-regression analysis showed that the age sample size and WHO geographic region did not influenced heterogeneity. CONCLUSION: We identified a high prevalence of pathogenic microorganism coinfection among COVID-19 patients. Because of this rate of coinfection empirical use of antibacterial, antifungal, and antiviral treatment are advisable specifically at the early stage of COVID-19 infection. We also suggest running simultaneously diagnostic tests to identify other microbiological agents' coinfection with SARS-CoV-2.

Covalent Antiviral Agents.

Nowadays, many viral infections have emerged and are taking a huge toll on human lives globally. Meanwhile, viral resistance to current drugs has drastically increased. Hence, there is a pressing need to design potent broad-spectrum antiviral agents to treat a variety of viral infections and overcome viral resistance. Covalent inhibitors have the potential to achieve both goals owing to their biochemical efficiency, prolonged duration of action, and the capability to inhibit shallow, solvent-exposed substrate-binding domains. In this chapter, we review the structures, activities, and inhibition mechanisms of covalent inhibitors against severe acute respiratory syndrome coronavirus 2, dengue virus, enterovirus, hepatitis C virus, human immunodeficiency virus, and influenza viruses. We also discuss the application of in silico study in covalent inhibitor design.

Effect of community-based education on undergraduate nursing students' skills: a systematic review.

BACKGROUND: Community-based education, as an effective approach to strengthen nurses' skills in response to society's problems and needs has increased in nursing education programs. The aim of this study was to review the effect of community-based education on nursing students' skills. METHODS: For this systematic review, ProQuest, EMBASE, Scopus, PubMed/ MEDLINE, Cochran Library, Web of Science, CINAHL and Google Scholar were searched up to February 2021. The methodological quality of the studies was assessed using the Mixed Methods Appraisal Tool (MMAT). Seventeen studies were included in this systematic review. Inclusion criteria included articles published in English and were original articles. RESULTS: In all studies, undergraduate nursing students' skills were improved by participation in a community-based education program. Community-based education enhances professional skills, communication skills, self-confidence, knowledge and awareness, and critical thinking skills and teamwork skills in undergraduate nursing students. CONCLUSIONS: Community-based education should be used as an effective and practical method of training capable nurses to meet the changing needs of society, to improve nurses 'skills and empower them to address problems in society.

The Comparison of Antimicrobial Effect of Nigella sativa Nanoparticle and Chlorhexidine Emulsion on the Most Common Dental Cariogenicic Bacteria.

Background: Tooth decay and periodontal disease are the most common chronic human and oral diseases, respectively, and bacterial plaque has a major role in their occurrence. Because of the importance of plaque control, this study was done to compare the antimicrobial effects of Nigella sativa nanoparticles and chlorhexidine emulsion on the most common dental cariogenicic bacteria. Methods: In this experimental study, the effects of 0.2% chlorhexidine mouthwash and Nigella sativa nanoparticle with different dilutions on Streptococcus mutans, Streptococcus sobrinus, Streptococcus salivarius, Lactobacillus acidophilus, Minococcal fecalis, and Enterococcus fecalis were compared using minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) assessment. Data were analyzed by SPSS Version 16.0 software, and statistical tests, including an independent sample t test. Results: Mean diameters of growth inhibition zone because of the nanoemulsion of Nigella sativa nanoparticle was close to each other in different bacteria (p=0.665). In addition, there was no significant difference between these values because of different dilutions of nanoemulsion even in different microbial species (p=0.778). The MIC and lethal concentrations of Nigella sativa nanoemulsion were similar for Enterococcus faecalis and Streptococcus mutans, and it was higher than other bacteria. In comparison, the MIC and MBC values of all bacteria in chlorhexidine were lower than those of the nanoemulsion. Conclusion: MIC and MBC values showed that Nigella sativa nanoemulsion affects tooth cariogenicic bacteria. Enterococcus faecalis and Lactobacillus acidophilus were the most resistant and susceptible bacteria to this nanoparticle, respectively, while the antimicrobial effects of Nigella sativa nanoemulsion were weaker than the chlorhexidine mouthwash.

Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review.

BACKGROUND: Homozygous protein C (PC) deficiency is a potentially fatal disease with ocular blinding presentation or sequela. CASE PRESENTATION: A 5 month-old boy was presented for evaluation of leukocoria. He had a history of frequent bruises and PC deficiency, treated with warfarin. His intraocular pressure was normal. In the left eye leukoma with anterior segment dysgenesis, shallow anterior chamber, and cataract were observed. Fundus was not visible. B-scan revealed a closed funnel retinal detachment. His right eye had a normal anterior segment and a thin retina with anomalous retinal vascular branching at equator and peripheral retina. A fibrovascular tuft on the optic nerve head with induced traction on superior arcade was visible. Total loss of a and b wave of both were appreciated in electroretinography (ERG). Fluorescein angiography (FA) showed very severe leakage at the junction of the vascularized and non-vascularized retina and optic nerve head. Favorable outcome was achieved with lasering of avascular retina in the right eye. CONCLUSION: The potential for protein C deficiency should be assessed in all infants with leukocoria, anterior segment dysgenesis, retinal detachment and retinal dysplasia. Early diagnosis could save the child's life and vision.

Negative thoughts in depression: A study in Iran.

The cognitive theory of depression proposes significant relations between negative thoughts and depression. Evidence for the model has been widely observed in Western countries. However, despite the high prevalence of depression in the Middle East (ME), there has been limited research that has evaluated the cognitive profiles of people living in this region, and especially in non-Arab countries like Iran. The current research examined these relationships in Iran. Convenience sampling was used to recruit 80 depressed and 80 non-depressed individuals via advertising in clinics and public areas, respectively. Depression status was checked with a structured interview, the Major Depressive Disorder subscale of the Psychiatric Diagnostic Screening Questionnaire, and the Beck Depression Inventory-II. All participants completed the Automatic Thoughts Questionnaire-Negative to examine the frequency of negative automatic thoughts. Unlike other results from Arab countries, depressed participants indicated significantly more negative thoughts towards self and future compared with the non-depressed group. The results of the present study are consistent with the negativity hypothesis of the cognitive theory of depression. Further research is needed in the in ME, to investigate other hypotheses of this theory in this region. Strengths and limitations of the present study are discussed.

Transdermal hormone replacement therapy with nanostructured medicines.

OBJECTIVES: Due to hormonal changes during the menopause, women experience a variety of perimenopause and postmenopause symptoms. This review examines the various aspects of nanostructured hormone therapy and its application in the treatments of menopausal symptoms. MATERIAL AND METHODS: Excerpta Medica DataBase, Medical Literature Analysis and Retrieval System Online, Web of Science, and Google Scholar were searched basing on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Seven eligible studies out of 51 related papers, which satisfied the initial search criteria, were extracted and carefully reviewed to clarify the role of nanomedicine in maintaining postmenopausal women's health. RESULTS: Review of the seven eligible studies confirmed nanostructured hormone therapy as a safe and effective method for the alleviation of menopausal symptoms. According to the existing studies, nanostructured hormone therapy decreased the mean daily frequency and severity of menopausal symptoms. CONCLUSION: The use of transdermal nanoformulations in hormone therapy can relieve climacteric symptoms and prevent other postmenopausal symptoms.

Experiences of Individuals With Liver Cirrhosis: A Qualitative Study.

Liver cirrhosis is one of the main causes of mortality and morbidity worldwide. Health-related quality of life in cirrhotic patients is affected by the disease's complications. The purpose of this article was to describe the experiences of individuals with liver cirrhosis during critical illness. The aim was to investigate the disease experiences of liver cirrhosis. The authors conducted a phenomenological qualitative study, using a Colaizzi's seven-step method. Ten participants with liver cirrhosis participated in in-depth interviews. The data from this analysis were transformed into 119 codes, 11 subthemes, and 4 main themes including (1) confronting tension, (2) needs, (3) spirituality, and (4) interaction and effective communication. Findings could be used as a basis for information and emotional and social support interventions, as these can be effective in promoting adjustment to complications of cirrhosis by suitable interventions. Adequate adjustment through adaptation leads to successful completion of treatment and improved quality of life.

Association between exposure to water sources contaminated with polycyclic aromatic hydrocarbons and cancer risk: A systematic review.

The recent scientific focus on polycyclic aromatic hydrocarbons (PAHs) has stemmed from their recognized genotoxic, mutagenic, and carcinogenic properties. This systematic review seeks to evaluate the nexus between exposure to water sources contaminated with PAHs and the associated cancer risk among global populations, encompassing both children and adults. Web of Science (WoS), Cochrane Library, PubMed, ProQuest, Scopus, and Google Scholar, were searched following the PRISMA guidelines, until December 31, 2023. Quality assessment of the selected studies was performed using the Newcastle-Ottawa Scale. The increased lifetime cancer risk (ILCR) attributed to PAH exposure through ingestion and dermal absorption was thoroughly examined across diverse age groups. After extensive searching, screening, and eligibility, 30 articles were included in this review, which was conducted in different parts of the world, including Nigeria (n = 11), China (n = 7), India (n = 4), Iran (n = 3), South Africa (n = 2), Italy (n = 1), Colombia (n = 1), and Iraq (n = 1). Our analysis underscores Nigeria's alarming prevalence of PAH contamination in its rivers, groundwaters, and seawater. Remarkably, the highest cancer risk was identified among children and adults, notably in proximity to the Atlas Cove jetty (seawater) and various Nigerian rivers. This elevated risk is primarily attributed to the combined effects of ingestion and dermal absorption. Furthermore, our findings emphasize the prominent role of combustion-derived and pyrogenic sources of PAH in the examined aquatic ecosystems. This study unequivocally establishes that PAH-contaminated water sources significantly amplify the risk of cancer among both children and adults. The extent of risk variation is influenced by the specific water source, duration of exposure, and age group. Consequently, proactive identification of contaminated water sources and their pollution origins, coupled with targeted educational campaigns, holds promise for reducing the global burden of PAH-related cancer.

Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging.

BACKGROUND: Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening. METHODS: This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided. RESULTS: The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole. CONCLUSIONS: Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

INTRODUCTION: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases. METHODS: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient. RESULTS: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD. CONCLUSION: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.