Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study

Background: Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in SAG and GRK1 genes. The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAG gene. Materials and methods: A 60-year-old female complaining congenital stationary night blindness was investigated through fundus photograph, optical coherence tomography (OCT), electroretinography (ERG), and genetic testing. Results: Fundus examination showed a golden-grayish fundus aspect. The rod response of the scotopic ERG was undetectable and mixed rod-cone response was electronegative. Fundus photographs obtained in light and in prolonged dark-adapted conditions allowed to detect the Mizuo-Nakamura phenomenon. Light condition OCT over the abnormal retinal regions showed high-intensity areas in the outer photoreceptor segment layer, that reduced with prolonged dark adaption. Genetic testing identified two rare heterozygous sequence variants in the SAG gene: NM_000541.5:c.807delA p.(Glu270Lysfs*9) and NM_000541.5:c.1047-1G>C confirming the diagnosis of Oguchi disease. Conclusions: We identified the first Italian compound heterozygous patient harboring two novel alterations in the SAG gene (a frameshift deletion and a splicing variant). The involvement of the SAG gene in Oguchi disease is a common finding in Japanese population, but rarely identified in Caucasians. Clinical suspicion should prompt the molecular analysis of genes associated with this condition.

An unusual case of genital filariasis of the testicular tunics in an Italian patient

At least 27 million men present with urogenital manifestations of genital filariasis (GF). Although there is a large burden of GF in residents in endemic regions, infection in short-term travellers and in non-endemic areas is rare. We report the case of a 75-year-old Italian man referred to our institution for a testicular discomfort. Clinical examination and ultrasound detected a mass of 40×18 mm in the scrotum without signs of varicocele, hydrocele and testicular or epididymal abnormalities. After ineffective medical treatment, the patient underwent surgical excision. Histology demonstrated filarial granuloma with thick cuticles pathognomonic of an adult worm in the testicular tunics. Surgery has a fundamental role in localized cases of GF to remove nematodes from the fibrotic nodules. The present manuscript describes a singular case of GF observed in Italy in a non-immigrant patient with evidence of remnants of an adult worm in the testicular tunics. SIMILAR CASES PUBLISHED: 11

Case Report: Molecular Detection of Dirofilaria repens in an Italian Patient after a Stay in Tanzania

A 35-year-old man was admitted to a hospital in the south of Italy because of a periocular nodule and subpalpebral edema. The patient reported having been stayed in Tanzania five months before. Hematologic parameters were within the normality range, the Acanthocheilonema viteae ELISA did not detect significant levels of antifilarial IgG, and no further symptoms were described. The surgical inspection of the nodule led to the isolation of two filarioid parasites, identified as Dirofilaria repens by SEM, and then by molecular assays. Knott’s test did not reveal microfilaremia, whereas loop-mediated isothermal amplification and PCR detected D. repens DNA. The patient was treated with doxycycline, and he was found no more positive at the follow-up.

Virus and school: reflections about the factors that have exacerbated the consequences of the health emergency in Italy

Italy was the first European country which has been affected by the fast spread of SARS-Cov-2, leading to a general lockdown that started on March 9, 2020, only two weeks after the diagnosis of the Italian patient zero. Such lockdown concerned also the school, that is, the social institution which suffered —and keeps suffering— the most the negative effects of the national restrictions whether because of the lack of precise indications regarding the didactics after the suspension of in-class activities or because of the deficiencies and criticalities that it has been facing since ages. It was only in April when teachers could eventually resort to e-learning; though, due to the lack of both methodological indications and adequate study plans, each school acted autonomously and the best they could. In most cases, it was the teachers’ initiative and individual efforts that led to a successful didactics. As a matter of fact, teachers tried any kind of strategy to keep in touch actively with their students, as testified through the technique of the focus group. Although, in disagreement with the message of hope spread during the lockdown, not everything has gone well; that is, the virus has highlighted a chronical situation of fragility and vulnerability, whose negative consequences and effects seem to persist also in the future. This essay aims at analysing what happened during the first Italian lockdown framing the impact of the COVID-19 pandemic on a sociocultural dimension. For this purpose, I will take into account the main contextual factors that have contributed to worsen —from the didactic and teaching perspective— the consequences of the spread of the virus.