Better COVID-19 Outcomes in Children with Good Asthma Control

Factors associated with COVID-19 presentation in children with asthma are poorly defined. Our study aimed to assess the clinical course of COVID-19 in children with asthma, with particular attention to possible risk factors for severe disease and long-term sequelae in this group of patients. We assessed the occurrence of SARS-CoV-2 infection in children with asthma six months before their regular outpatient visit to the asthma clinic. Characteristics of patients presenting with signs of SARS-CoV-2 upper (URTI) or lower respiratory tract infection (LRTI) were compared. We focused on factors previously associated with COVID-19 severity. Twenty-seven percent of patients (57/210) reported exposure to SARS-CoV-2 infection. In the symptomatic group, 36% (15/42) reported symptoms of LRTI and 64% (27/42) of URTI. Poorer asthma control was observed in patients with LRTI compared to URTI (80% vs. 7%, p p = 0.026). We found no PFT deterioration post-COVID-19 in either group of patients. Our results suggest good asthma control and treatment adherence prior to infection are associated with better COVID-19 outcomes in children with asthma

Hodgkinov limfom : vodnik za bolnike

Z vodnikom želimo tako bolnike kot svojce čim bolje seznaniti z najnovejšimi spoznanji o Hodgkinovem limfomu, njegovem odkrivanju, razjasniti osnove bolezni, predstaviti načine zdravljenja, ukrepe ob neželenih stranskih učinkih zdravljenja s kemoterapijo, poskrbeti za dobro osveščenost o možnostih ohranjanja plodnosti in možnih poznih posledicah zdravljenja, približati zavedanje o pomenu psihološke podpore bolniku in njegovim svojcem ter ponuditi pomoč Združenja L&L. Z ozaveščenostjo in pridobljenim znanjem lahko bolnik pri zdravljenju bolezni še bolj dejavno sodeluje s svojim zdravnikom in s tem pomembno prispeva k doseganju končnega cilja vsakega bolnika – k popolni ozdravitvi limfoma

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant – c.424G > A (p.Val142Ile) in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation