Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla

The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation

This paper aims to present a third world case of Non-Syndromic sensorineural hearing loss (NSHL) due to a novel missense variant in COL11A1 gene, defined as DFNA37 non-syndromic hearing loss. The clinical features of a 6-year-old boy affected by a bilateral moderate to severe down-sloping sensorineural hearing loss are presented, as well as the genetic analysis, the latter identifying a heterozygous missense variation in the COL11A1 gene. In addition, in families with autosomal dominant transmission, COL11A1 gene should be considered in the genetic workup of the NSHL with prelingual onset

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant. Methods: data on 804 pregnant women out of 2 158 (37.3%) referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study. Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9%) were identified during pregnancy and 607 (65.1%) were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01) had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established. Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered

Acute Esophageal Necrosis as a Rare Complication of Metabolic Acidosis in a Diabetic Patient: A Case Report

Objective: Challenging differential diagnosisBackground: Acute esophageal necrosis, or Gurvits syndrome, is a rare clinical process often secondary to a systemic low -flow state. It can be caused by several medical conditions, and it is thought to arise from a combination of impaired mucosal barrier and chemical and ischemic insults to the esophagus. Acute esophageal necrosis usually presents with severe complications due to delayed diagnosis and only rarely has surgical indications. We present a case of Gurvits syndrome, presumably triggered by metabolic acidosis in a diabetic patient.Case Report: A 61-year-old man with history of hypertension and type 2 diabetes mellitus treated with metformin, canagliflozin, glimepiride, and pioglitazone came to our attention with persistent vomiting, odynophagia, chest pain after each meal, and progressive weight loss. Arterial blood analysis showed mild metabolic acidosis, while the first esophagogastroduodenoscopy performed revealed a circumferential black appearance of the esophageal mucosa, as in concentric necrosis of the distal esophagus with possible fungal superinfection. Brushing cytology confirmed the infection by Candida spp. and the patient was treated with intravenous fluconazole. The second esophagogastroduodenoscopy, performed after 2 weeks, showed almost complete healing of the esophageal mucosa; in this case, biopsy confirmed mucosal ischemia and necrosis, without showing deep impairment of the mucosa by fungal agents.Conclusions: Due to its high lethality, often caused by the underlying medical diseases, acute esophageal disease should be considered in the differential diagnosis of digestive symptoms, even without upper gastrointestinal bleeding. Prompt diagnosis and treatment of contextual collateral conditions can help clinicians to avoid the worst out-comes of the disease. Among the causative factors of metabolic acidosis leading to esophageal necrosis we recognized metformin and dapagliflozin

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

Hearing loss is the most frequent sensorineural disorder, affecting approximately 1:1000 newborns. Hereditary forms (HHL) represent 50–60% of cases, highlighting the relevance of genetic testing in deaf patients. HHL is classified as non-syndromic (NSHL—70% of cases) or syndromic (SHL—30% of cases). In this study, a multistep and integrative approach aimed at identifying the molecular cause of HHL in 102 patients, whose GJB2 analysis already showed a negative result, is described. In NSHL patients, multiplex ligation probe amplification and long-range PCR analyses of the STRC gene solved 13 cases, while whole exome sequencing (WES) identified the genetic diagnosis in 26 additional ones, with a total detection rate of 47.6%. Concerning SHL, WES detected the molecular cause in 55% of cases. Peculiar findings are represented by the identification of four subjects displaying a dual molecular diagnosis and eight affected by non-syndromic mimics, five of them presenting Usher syndrome type 2. Overall, this study provides a detailed characterisation of the genetic causes of HHL in the Italian population. Furthermore, we highlighted the frequency of Usher syndrome type 2 carriers in the Italian population to pave the way for a more effective implementation of diagnostic and follow-up strategies for this disease

Imported Chikungunya Infection, Italy

From July to September 2006, a total of 17 confirmed cases of CHIKV infection were observed in travelers at 5 Gruppo di Interesse e Studio delle Patologie di Importazione (GISPI) centers (Italian network of Institutes of Infectious and Tropical Diseases). Prompt reporting of imported CHIKV infections is essential for monitoring of potential risk. The possibility of introducing CHIKV into Italy cannot be ruled out on the basis of current evidence