A highly transmissible severe acute respiratory coronavirus 2 (SARS‐CoV‐2) caused the coronavirus diseases 2019 (COVID‐19) pandemic, which resulted the highest morbidity and mortality rates among SARS‐CoV and MERS‐CoV. SARS‐CoV‐2 B.1.1.7 variant indicated the higher transmission among human‐to‐human and increasing hospitalisation. SARS‐CoV‐2 infection was observed in domestic animals showing human‐to‐pet transmission. In the current study, we report the first direct known human‐to‐cat transmission of the SARS‐CoV‐2 B.1.1.7 variant within the same family. Previous findings showed that companion animals can get infected by COVID‐19 patients after 3–6 weeks; however, according to our molecular findings, the cat was infected by the viral variant at the same period. Moreover, B.1.1.7 infection caused and developed several clinical symptoms including cardiac and ocular abnormalities. Overall, our findings determined the first direct and high transmission ability of the B.1.1.7 variant from COVID‐19 affected family members to cat. This result showed that the SARS‐CoV‐2 B.1.1.7 variant could have the highest transition capacity from human to domestic cat as shown for human‐to‐human. The governmental or worldwide policies should consider more detailed against the war with COVID‐19 pandemic.
Neonatal progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in the POLR3A (RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in the POLR3A gene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations.
Obesity is a chronic disease in which abnormal deposition of fat threatens health, leading to diabetes, cardiovascular diseases, cancer, and other chronic illnesses. According to the WHO, 19.8% of the adult population in Italy is obese, and the prevalence is higher among men. It is important to know the predisposition of an individual to become obese and to respond to bariatric surgery, the most up-to-date treatment for severe obesity. To this purpose, we developed an NGS gene panel, comprising 72 diagnostic genes and 244 candidate genes, and we sequenced 247 adult obese Italian patients. Eleven deleterious variants in 9 diagnostic genes and 17 deleterious variants in 11 candidate genes were identified. Interestingly, mutations were found in several genes correlated to the Bardet–Biedl syndrome. Then, 25 patients were clinically followed to evaluate their response to bariatric surgery. After a 12-month follow-up, the patients that carried deleterious variants in diagnostic or candidate genes had a reduced weight loss, as compared to the other patients. The NGS-based panel, including diagnostic and candidate genes used in this study, could play a role in evaluating, diagnosing, and managing obese individuals, and may help in predicting the outcome of bariatric surgery.
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