Growth charts in Kabuki syndrome 1.

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individuals (41 females). Growth charts for height, weight, body mass index (BMI) and occipitofrontal circumference were generated in standard deviation values for the first time in KS1. Statural growth of KS1 individuals was compared to parental target size. According to the charts, height, weight, BMI, and occipitofrontal circumference were lower for KS1 individuals than the normative French population. For males and females, the mean growth of KS1 individuals was -2 and -1.8 SD of their parental target size, respectively. Growth hormone therapy did not increase size beyond the predicted size. This study, from the largest cohort available, proposes growth charts for widespread use in the management of KS1, especially for size prognosis and screening of other diseases responsible for growth impairment beyond a calculated specific target size.

Risk of infection in elderly patients with inflammatory bowel disease under biologics: A prospective, multicenter, observational, one-year follow-up comparative study.

OBJECTIVES: The emergence of biologics has improved the course of inflammatory bowel diseases (IBD) in the elderly population despite a potential higher risk of infections. We conducted a one-year, prospective, multicenter, observational study to determine the frequency of occurrence of at least one infectious event in elderly IBD patients under anti-TNF therapy compared with that in elderly patients under vedolizumab or ustekinumab therapies. METHODS: All IBD patients over 65 years exposed to anti-TNF, vedolizumab or ustekinumab therapies were included. The primary endpoint was the prevalence of at least one infection during the whole one year follow-up. RESULTS: Among the 207 consecutive elderly IBD patients prospectively enrolled, 113 were treated with anti-TNF and 94 with vedolizumab (n=63) or ustekinumab (n=31) (median age 71 years, 112 Crohn's disease). The Charlson index was similar between patients under anti-TNF and those under vedolizumab or ustekinumab as well as the proportion of patients under combination therapy and under concomitant steroid therapy did not differ between both both groups. The prevalence of infections was similar in patients under anti-TNF and in those under vedolizumab or ustekinumab (29% versus 28%, respectively; p=0.81). There was no difference in terms of type and severity of infection and of infection-related hospitalization rate. In multivariate regression analysis, only the Charlson comorbidity index (≥ 1) was identified as a significant and independent risk factor of infection (p=0.03). CONCLUSION: Around 30 % of elderly patients with IBD under biologics experienced at least one infection during the one-year study follow-up period. The risk of occurrence of infection does not differ between anti-TNF and vedolizumab or ustekinumab therapies, and only the associated comorbidity was linked with the risk of infection.

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.

According to clinical guidelines, the occurrence of very early-onset breast cancer (VEO-BC) (diagnosed ≤ age 30 years) or VEO ovarian cancer (VEO-OC) (diagnosed ≤ age 40 years) in families with BRCA1 or BRCA2 mutation (BRCAm) prompts advancing the age of risk-reducing strategies in relatives. This study aimed to assess the relation between the occurrence of VEO-BC or VEO-OC in families with BRCAm and age at BC or OC diagnosis in relatives. We conducted a retrospective multicenter study of 448 consecutive families with BRCAm from 2003 to 2018. Mean age and 5-year-span distribution of age at BC or OC in relatives were compared in families with or without VEO-BC or VEO-OC. Conditional probability calculation and Cochran-Mantel-Haenszel chi-square tests were used to investigate early-onset cancer occurrence in relatives of VEO-BC and VEO-OC cases. Overall, 15% (19/245) of families with BRCA1m and 9% (19/203) with BRCA2m featured at least one case of VEO-BC; 8% (37/245) and 2% (2/203) featured at least one case of VEO-OC, respectively. The cumulative prevalence of VEO-BC was 5.1% (95% CI 3.6-6.6) and 2.5% (95% CI 1.4-3.6) for families with BRCA1m and BRCA2m, respectively. The distribution of age and mean age at BC diagnosis in relatives did not differ by occurrence of VEO-BC for families with BRCA1m or BRCA2m. Conditional probability calculations did not show an increase of early-onset BC in VEO-BC families with BRCA1m or BRCA2m. Conversely, the probability of VEO-BC was not increased in families with early-onset BC. VEO-BC or VEO-OC occurrence may not be related to young age at BC or OC onset in relatives in families with BRCAm. This finding-together with a relatively high VEO-BC risk for women with BRCAm-advocates for MRI breast screening from age 25 regardless of family history.

Evaluating the impact of the antrum size following laparoscopic sleeve gastrectomy: a randomized multicenter study.

BACKGROUND: The effect of laparoscopic sleeve gastrectomy (LSG) on gastroesophageal reflux disease (GERD) remains discordant and highly related to the surgical technique. GERD and weight regain are probably understudied by prospective clinical studies depending on different technical factors. OBJECTIVES: The purpose of this article is to evaluate the effect of extent to which the antrum is resected on GERD following LSG but also on early complications and short-term weight loss results. SETTING: University Hospital, France. METHODS: Patients were randomly assigned in group A (172 patients), LSG with antral resection, or group B (174 patients), LSG with antral preservation. The baseline characteristics collected were demographic characteristics and anthropometric data (age, sex, body mass index), presence of GERD clinical characteristics, ± pH-metry, postoperative complications, or gastrin level. RESULTS: A total of 279 patients underwent LSG and they were included in the final analysis. The GERD analyzed at 3 months postoperatively by pH-metry was observed for 57.8% in group A and for 52.4% of patients in group B (P = .4819). There was no statistically significant difference (P = .3755) between the 2 groups at 1 year after surgery (group A, 49.5% versus group B, 43.6%). The gastrin serum level was analyzed 1 year after surgery for a total of 107 patients. For group A, the mean gastrin level was 97.4 ± 85.9 pg/mL, which was inferior compared with group B (150.6 ± 152.4 pg/mL) with no statistical difference (P = .067). The recorded excess weight loss for group A was 79.67% (± 28.88) with no statistically significant difference with group B 74.46% (± 36.61) (P = .3678). The mortality rate was nil. We recorded 5 cases of staple line leakage (3 in group A and 2 in group B); 11 patients presented bleeding (3 in group A and 8 group B), and 4 patients presented with gastric stenosis (2 in group A and 2 in group B). CONCLUSIONS: The antrum preservation has no significant difference in terms of reflux, weight loss, or complications at 3 or 12 months following LSG. The only significant difference was achieved for nausea and vomiting symptoms, which were more significant for the antrum resection group. Further clinical trials with newer procedures will indicate the factors that can diminish the reflux following LSG. Furthermore, the conservation of a large part of the antrum may be helpful to convert the sleeve to another bariatric procedure (transit bipartition).