2022年 · 第102卷第38期

Pediatric vesicorectal dysfunction (BBD) refers to a type of excretory dysfunction of lower urinary tract symptoms (LUTS) and functional constipation (FC) caused by unknown causes. Approximately half of patients were seen for LUTS or FC. Multiple studies have demonstrated that there is an association between mother and child LUTS, however, whether a similar relationship exists for BBD has yet to be determined. To assess the family association of BBD, LUTS alone, and FC alone between mothers and children, the study was conducted in a population-based cross-sectional study in a Brazilian city according to the international diagnostic criteria for BBD, collecting relevant information about the family history of BBD, LUTS alone (LUTS without FC), and FC alone (FC without LUTS) in a total of 526 mothers and children. Among them, 441 pairs of mother-child information met the design criteria. Subjects were divided into BBD group, LUTS group alone (LUTS without FC), LUTS group (FC may be present at the same time), FC group alone (FC without LUTS), and FC group (LUTS may be present at the same time) according to the presence or absence of LUTS and FC. The surveyed children were all frequently living with their mothers, aged from 5 to 14 (9.1±2.7) years, of which 249 (56.5%) were females. The age of the mother was (35.7 ± 6.1) years.

Nocturnal enuresis, commonly known as bedwetting, is more common in children, and the prevalence rate of 7-year-old children is about 10% to 16%. It was found that nocturnal enuresis is highly heritable, but its genetically related gene loci are still not fully understood. The existing treatment methods for enuresis have a low cure rate and are prone to recurrence. By identifying genetic variants associated with nocturnal enuresis, it is conducive to exploring its genetic changes and potential biological concentration, and provides a reference for finding new therapeutic targets.

With the advent of drugs such as second-generation proteasome inhibitors (carfilzomib and ithazomib), new immunomodulatory drugs (pomalidomide), and monoclonal antibodies (daratumumab), overall survival of patients with multiple myeloma (MM) has improved over the past 10 years. But despite advances in the treatment of MM, the treatment of relapsed/refractory MM (RRMM) remains challenging and requires the development of drugs with different mechanisms of action. One marker of tumor cell survival in MM is the overexpression of anti-apoptotic proteins, including BCL-2, BCL-XL, BCL-W, and myeloid leukemia cell sequence-1 (MCL-1), among others. Veneclax, an inhibitor of the anti-apoptotic protein BCL-2, is a promising drug, especially in patients containing t (11; 14). Approximately 20% of patients with MM have t (11; 14), which leads to overexpression of BCL-2, and previous studies have shown strong monotherapy activity of veneclax in these patients. To explore the efficacy and safety of veneclax-based regimen treatment in patients with t (11; 14), the study retrospectively analyzed clinical data from 10 patients with t (11; 14) RRMM based on veneclax regimen treatment, with the primary endpoint being the objective response rate (ORR). Prior to the use of veneclax, 10 patients had received an average of 6 lines of therapy and were all resistant to bortezomib. Among the 9 patients with assessable response, the ORR was 78% (7 of 9 patients). One had a complete response (CR), one had a very good partial response (VGPR), four had a partial response (PR), and one had a therapeutically minimal response (MR). One patient with concomitant myocardial amyloidosis achieved organ remission with a 45% decrease in N-terminal B-type pronatriuretic peptide. Six patients survived the most recent follow-up, with a median follow-up of 5 months (range 3.1 to 13.5 months), a 6-month overall survival rate of 77% and a 6-month progression-free survival rate of 28%. The causes of death were 3 recurrences of MM and 1 septic shock/acute hypoxic respiratory failure due to invasive aspergillosis (in the case of disease progression). Non-hematological toxicities include fatigue, weight loss, loss of appetite, and gastrointestinal toxicities (nausea, diarrhea, and abdominal cramps). Four of the 10 patients required transfusion of red blood cells or platelets due to hematologic toxicity.