Neuroretinitis caused by Bartonella henselae: case report

Bolest mačjeg ogreba je zarazna bolest uzrokovana bakterijom Bartonella henselae, a obilježena je regionalnom limfadenopatijom i vrućicom. Iako i drugi organi mogu biti zahvaćeni, oči su rijetko zahvaćene (5% - 10%), što se može manifestirati kao neuroretinitis. Prikazujemo slučaj 11-godišnjeg dječaka primljenog na hitni odjel zbog gubitka vida na desnom oku, što je otkriveno probirnim testiranjem vida. Oftalmološki pregled pokazao je otok diska, peripapilarna mikrokrvarenja i edem makule s eksudatima bogatim lipidima, što je ukazivalo na zvjezdastu makulu. Serološki testovi pokazali su povišeni titar protutijela na Bartonella henselae. Bolesnik je liječen rifampicinom i doksiciklinom, uz optimalan terapijski odgovor. Neuroretinitis je rijetka manifestacija infekcije bakterijom Bartonella henselae i na njega treba posumnjati u svakog bolesnika u kojega se uz gubitak vidne oštrine utvrdi oticanje diska, zvjezdasti eksudati makule te kontakt s mačkama u anamnezi. Kod većine bolesnika predinfekcijska vidna funkcija oporavi se u većoj mjeri ili potpuno, međutim, u manjeg broja bolesnika s naročito teškim neuroretinitisom mogu ostati posljedice u funkciji vida. Nema randomiziranih istraživanja učinkovitosti liječenja, no čini se da antibiotska terapija rifampicinom i doksiciklinom skraćuje tijek bolesti i ubrzava oporavak vida.Cat scratch disease is an infectious disease caused by Bartonella henselae characterized by regional lymphadenopathy and fever. Although it may involve other organs, ocular involvement is rare (5%-10%) and may manifest as neuroretinitis. We present a case of an 11-year-old patient admitted to the emergency department because of vision loss on the right eye, detected on a vision screening test. Ophthalmological evaluation showed disc swelling, peripapillary microhaemorrhages and macular oedema with lipid-rich exudates, suggestive of the macular star pattern. Serological studies revealed elevated titre of antibodies to Bartonella henselae. The patient was treated with rifampicin and doxycycline, with optimal response. Neuroretinitis is an uncommon manifestation of Bartonella henselae infection and should be suspected in any patient presenting loss of visual acuity, along with the fi nding of disc swelling, macular star exudates, and a history of contact with cats. Most patients recover most or all of their pre-infection visual function, however, a small subset of patients with particularly severe neuroretinitis may be left with optic sequelae. There are no randomized trials on the eff ectiveness of treatment but antibiotic therapy with rifampicin and doxycycline seems to shorten the course of the disease and hasten visual recovery

Neuregulin 4 is a novel marker of beige adipocyte precursor cells in human adipose tissue

Background: Nrg4 expression has been linked to brown adipose tissue activity and browning of white adipocytes in mice. Here, we aimed to investigate whether these observations could be translated to humans by investigating NRG4 mRNA and markers of brown/beige adipocytes in human visceral (VAT) and subcutaneous adipose tissue (SAT). We also studied the possible association of NRG4 with insulin action. Methods: SAT and VAT NRG4 and markers of brown/beige (UCP1, UCP3, and TMEM26)-related gene expression were analyzed in two independent cohorts (n = 331 and n = 59). Insulin resistance/sensitivity was measured using HOMAIR and glucose infusion rate during euglycemic hyperinsulinemic clamp. Results: In both cohort 1 and cohort 2, NRG4 and thermogenic/beige-related gene expression were significantly increased in VAT compared to SAT. Adipogenic-related genes followed an opposite pattern. In cohort 1, VAT NRG4 gene expression was positively correlated with BMI and expression of UCP1, UCP3, TMEM26, and negatively with adipogenic (FASN, PPARG, and SLC2A4)- and inflammatory (IL6 and IL8)-related genes. In SAT, NRG4 gene expression was negatively correlated with HOMAIR and positively with UCP1 and TMEM26 gene expression. Multiple linear regression analysis revealed that expression of TMEM26 gene was the best predictor of NRG4 gene expression in both VAT and SAT. Specifically, NRG4 and TMEM26 gene expression was significantly increased in VAT, but not in SAT stromal vascular fraction cells (p < 0.001). In cohort 2, the significant association between NRG4 and TMEM26 gene expression in both VAT and SAT was confirmed, and SAT NRG4 gene expression also was positively correlated with insulin action and the expression of UCP1. Conclusion: Current findings suggest NRG4 gene expression as a novel marker of beige adipocytes in human adipose tissue

Headache in Adolescence: Characteristics and Prevalence of an Urban Portuguese Population: Date of submission: 05-12-2017 | Date of acceptance: 26-05-2018 | Published: 06-11-2018

Introduction: Headache is a frequent complaint among children and adolescents. Its prevalence is still poorly described in this Portuguese population. The most frequent primary headache disorders are migraine and tension-type headache. The authors aimed to characterise and to determine the prevalence in a three months period of headache among adolescents in a Portuguese urban county. Methods: Population-based cross-sectional study with data collected through anonymous questionnaire to an adolescent sample attending the third cycle of basic education. The questionnaire was compiled using the International Headache Society diagnostic criteria. Results: A total of 2123 valid questionnaires were obtained. The three months headache prevalence was 74.5%, higher among female adolescents (boys 63.9%, girls 84.6%). Recurrent headache (more than one episode in three months) prevalence was 49.7% and frequent recurrent headache (14 or more episodes in three months) prevalence was 6.2%. Using a visual analog scale from 0-10 points, the average intensity was 4.64 points (boys 4.47, girls 4.77) and 12.4% (boys 9.3%, girls 15.3%) of all adolescents reported severe intensity pain (≥ 7 points). According to the International Headache Society diagnostic criteria 5.4% (boys 4.3%, girls 6.4%) students reported headache that fulfilled migraine criteria and 7.6% (boys 8.3%, girls 7.0%) tension-type headache criteria. Among female adolescents, significant association was detected (p &lt; 0.05) between the increasing age and the prevalence of three months headache as well as headache that fulfilled migraine criteria. Discussion: This study shows the high prevalence of headache among the studied adolescents supporting the need for greater awareness of this clinical entity.Introduction: Headache is a frequent complaint among children and adolescents. Its prevalence is still poorly described in this Portuguese population. The most frequent primary headache disorders are migraine and tension-type headache. The authors aimed to characterise and to determine the prevalence in a three months period of headache among adolescents in a Portuguese urban county. Methods: Population-based cross-sectional study with data collected through anonymous questionnaire to an adolescent sample attending the third cycle of basic education. The questionnaire was compiled using the International Headache Society diagnostic criteria. Results: A total of 2123 valid questionnaires were obtained. The three months headache prevalence was 74.5%, higher among female adolescents (boys 63.9%, girls 84.6%). Recurrent headache (more than one episode in three months) prevalence was 49.7% and frequent recurrent headache (14 or more episodes in three months) prevalence was 6.2%. Using a visual analog scale from 0-10 points, the average intensity was 4.64 points (boys 4.47, girls 4.77) and 12.4% (boys 9.3%, girls 15.3%) of all adolescents reported severe intensity pain (≥ 7 points). According to the International Headache Society diagnostic criteria 5.4% (boys 4.3%, girls 6.4%) students reported headache that fulfilled migraine criteria and 7.6% (boys 8.3%, girls 7.0%) tension-type headache criteria. Among female adolescents, significant association was detected (p &lt; 0.05) between the increasing age and the prevalence of three months headache as well as headache that fulfilled migraine criteria. Discussion: This study shows the high prevalence of headache among the studied adolescents supporting the need for greater awareness of this clinical entity

Caso clínico dermatológico

Incontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.info:eu-repo/semantics/publishedVersio

Neuregulin 4 is a novel marker of beige adipocyte precursor cells in human adipose tissue

Background: Nrg4 expression has been linked to brown adipose tissue activity and browning of white adipocytes in mice. Here, we aimed to investigate whether these observations could be translated to humans by investigating NRG4 mRNA and markers of brown/beige adipocytes in human visceral (VAT) and subcutaneous adipose tissue (SAT). We also studied the possible association of NRG4 with insulin action. Methods: SAT and VAT NRG4 and markers of brown/beige (UCP1, UCP3, and TMEM26)-related gene expression were analyzed in two independent cohorts (n = 331 and n = 59). Insulin resistance/sensitivity was measured using HOMAIR and glucose infusion rate during euglycemic hyperinsulinemic clamp. Results: In both cohort 1 and cohort 2, NRG4 and thermogenic/beige-related gene expression were significantly increased in VAT compared to SAT. Adipogenic-related genes followed an opposite pattern. In cohort 1, VAT NRG4 gene expression was positively correlated with BMI and expression of UCP1, UCP3, TMEM26, and negatively with adipogenic (FASN, PPARG, and SLC2A4)- and inflammatory (IL6 and IL8)-related genes. In SAT, NRG4 gene expression was negatively correlated with HOMAIR and positively with UCP1 and TMEM26 gene expression. Multiple linear regression analysis revealed that expression of TMEM26 gene was the best predictor of NRG4 gene expression in both VAT and SAT. Specifically, NRG4 and TMEM26 gene expression was significantly increased in VAT, but not in SAT stromal vascular fraction cells (p < 0.001). In cohort 2, the significant association between NRG4 and TMEM26 gene expression in both VAT and SAT was confirmed, and SAT NRG4 gene expression also was positively correlated with insulin action and the expression of UCP1. Conclusion: Current findings suggest NRG4 gene expression as a novel marker of beige adipocytes in human adipose tissue

Deep-sequencing reveals broad subtype-specific HCV resistance mutations associated with treatment failure.

A percentage of hepatitis C virus (HCV)-infected patients fail direct acting antiviral (DAA)-based treatment regimens, often because of drug resistance-associated substitutions (RAS). The aim of this study was to characterize the resistance profile of a large cohort of patients failing DAA-based treatments, and investigate the relationship between HCV subtype and failure, as an aid to optimizing management of these patients. A new, standardized HCV-RAS testing protocol based on deep sequencing was designed and applied to 220 previously subtyped samples from patients failing DAA treatment, collected in 39 Spanish hospitals. The majority had received DAA-based interferon (IFN) α-free regimens; 79% had failed sofosbuvir-containing therapy. Genomic regions encoding the nonstructural protein (NS) 3, NS5A, and NS5B (DAA target regions) were analyzed using subtype-specific primers. Viral subtype distribution was as follows: genotype (G) 1, 62.7%; G3a, 21.4%; G4d, 12.3%; G2, 1.8%; and mixed infections 1.8%. Overall, 88.6% of patients carried at least 1 RAS, and 19% carried RAS at frequencies below 20% in the mutant spectrum. There were no differences in RAS selection between treatments with and without ribavirin. Regardless of the treatment received, each HCV subtype showed specific types of RAS. Of note, no RAS were detected in the target proteins of 18.6% of patients failing treatment, and 30.4% of patients had RAS in proteins that were not targets of the inhibitors they received. HCV patients failing DAA therapy showed a high diversity of RAS. Ribavirin use did not influence the type or number of RAS at failure. The subtype-specific pattern of RAS emergence underscores the importance of accurate HCV subtyping. The frequency of "extra-target" RAS suggests the need for RAS screening in all three DAA target regions