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“Normotriglyceridemic abetalipoproteinemia (ABL)” was originally described as a clinical entity distinct from either ABL or hypobetalipoproteinemia. Subsequent studies identified mutations in APOB gene which encoded truncated apoB longer than apoB48. Therefore, “Normotriglyceridemic ABL” can be a subtype of homozygous familial hypobetalipoproteinemia 1. Here, we report an atypical female case of ABL who was initially diagnosed with “normotriglyceridemic ABL”, because she had normal plasma apoB48 despite the virtual absence of apoB100 and low plasma TG level. Next generation sequencing revealed that she was a compound heterozygote of two novel MTTP mutations nonsense (p.Q272X) and missense (p.G709R). selleck chemical We speculate that p.G709R might confer residual triglyceride transfer activity of MTTP preferentially in the intestinal epithelium to the hepatocytes, allowing production of apoB48. Together, “normotriglyceridemic ABL” may be a heterogenous disorder which is caused by specific mutations in either APOB or MTTP gene.

Over the past 2 decades, pharmacists have positioned immunization services as an important aspect of their expanding role in patient care.

To examine how community chain pharmacists view time spent on immunization, available in-store resources and barriers, and pharmacy technician involvement in the context of their views about the achievement of key National Vaccine Advisory Committee (NVAC) Standards of Adult Immunization Practice in their workplace.

A representative, nationwide survey was administered electronically to chain community pharmacists over a 4-week period. Community pharmacists offering year-round immunization in retail chain, supermarket, and mass-merchant settings, randomly sampled from a database maintained by the American Pharmacists Association. We examined several sets of interrelated relationships regarding pharmacists’ perceived achievement of 3 key NVAC standards (assessment, recommendation and administration), time spent on the overall immunization process, the effectiveness of their patients.

Overall, community pharmacies would likely better meet national immunization goals by achieving all 3 key NVAC standards and incorporating expanded roles for appropriately trained and supervised technicians in PBIS.

Overall, community pharmacies would likely better meet national immunization goals by achieving all 3 key NVAC standards and incorporating expanded roles for appropriately trained and supervised technicians in PBIS.

The consumption of ultra-processed products (UP) is associated with many diseases in the adult, such as arterial hypertension, diabetes, or asthma.

To determine whether the consumption of UP in children is associated with wheezing respiratory diseases (asthma or bronchitis/recurrent wheezing).

A cross-sectional study was conducted within the Follow-up of the Child for Optimal Development (SENDO) project (an open, multidisciplinary and multiple outcome study of Spanish children). The consumption of UP was calculated using semi-quantitative questionnaires on the frequency of food consumption. The foods were grouped according to the NOVA classification, and the daily consumption was estimated along with the percentage of Kilocalories from the UP. The exposure was grouped into “high” and “low” from the median consumption. Odds Ratios and 95% confidence intervals were calculated for wheezing respiratory diseases associated with the high consumption UP, using low consumption as a reference. Crude and multi-adjusted estimators were calculated, and mixed regression models were used to take into account the correlation between siblings.

In the 513 children studied (51.8% males, mean age 5.2 years), the mean consumption of UP was 446.76g/day, representing 39.9% of the total calories ingested. A high consumption of UP was associated with an increase of 87% in the prevalence of wheezing respiratory diseases (OR 1.87, 95% CI 1.01-3.45). It was found that a higher consumption of UP multiplied by 2.12 (95% CI 1.10-4.05) the prevalence of bronchitis/recurrent wheezing.

The results of this study show a direct relationship between UP consumption and the prevalence of wheezing diseases in children.

The results of this study show a direct relationship between UP consumption and the prevalence of wheezing diseases in children.

Paediatric stone disease is an important clinically entity and management is often challenging. Although it is known that the condition is endemic in some geographic regions of the world, the global incidence is also increasing. Patient age and sex; the number, size, location, and composition of the stone; and the anatomy of the urinary tract are factors that need to be taken into consideration when choosing a treatment modality.

To provide a general insight into the evaluation and management of urolithiasis in the paediatric population in the era of minimally invasive surgery.

A nonsystematic review of the literature on management of paediatric urolithiasis was conducted with the aim of presenting the most suitable treatment modality for different scenarios.

Because of high recurrence rates, open surgical intervention is not the first option for paediatric stone disease, except for very young patients with very large stones in association with congenital abnormalities. Minimally invasive surgeries has required because of the high recurrence rates.

Cases of urinary stones in children are increasing. Minimally invasive surgery can achieve high stone-free rates with low complication rates. After stone removal, metabolic evaluation is strongly recommended so that medical treatment for any underlying metabolic abnormality can be given. Regular follow-up with imaging such as ultrasound is required because of the high recurrence rates.

Creating the neovaginal canal in transwomen is one of the most delicate steps of Genital Gender Affirming Surgery (GGAS). Injury to the rectum is a rare but serious complication that can lead to further surgery and even creation of a colostomy.

Implementation of a novel hydrospacing technique (HST) based on transrectal ultrasound (TRUS)-guided hydrodistension.

Between June 2018 and June 2020 54 transwomen received GGAS with HST. Immediately before GGAS transperineal hydrodistension was performed using a TSK-Supra-Needle (20 Gauge, 120 mm length), that was placed under direct TRUS-guided visual control between Denonvilliers’ fascia and the anterior rectal wall. 40 – 60 ml normal saline were administered perineally to separate Denonvilliers’ fascia from the anterior rectal wall to create a dissection of at least 20 mm. For better intraoperative visualization the hydrodissected space was also dyed using 2ml of methylenblue while retracting the needle. A retrospectively analysed, clinically and demographically comparable series of 84 transwomen who underwent GGAS between June 2016 and June 2018 served as control group.