A higher proportion of human UGT promoters were found to contain consensus CREs compared to the rat homologs. UGTs 1a6, 2b17 and 2b37 were upregulated by PB in rat liver 3D microtissues, but unaltered in human liver 3D microtissues. see more By contrast, human UGTs 1A8, 1A10 and 2B10 showed higher levels of induction (RNA and /or protein) compared to the rat homologs. There was general concordance between the presence of CREs and the induction of UGT RNA. As UGT1A and 2B isoforms metabolise T4, these results suggest that differences in UGT induction could contribute to differential susceptibility to CAR-mediated thyroid carcinogenesis in rats and humans.

A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs).

To describe the use of ETF in a large cohort of patients with IMDs.

A retrospective analysis of ETF in patients with urea cycle disorders (UCDs), organic aciduria (OA), maple syrup disease (MSUD), glycogen storage diseases (GSDs) or fatty acid oxidation disorders (FAODs) diagnosed before the age of 12 months.

The reference center for IMDs at Necker Hospital (Paris, France).

190 patients born between January 1991 and August 2017 were being treated for OA (

 = 60), UCDs (

 = 55), MSUD (

 = 32), GSDs (

 = 26) or FAODs (

 = 17). Ninety-eight of these patients (52%) received ETF (OA subgroup

 = 40 (67%); UCDs

 = 12 (22%); MSUD

 = 9 (28%); GSDs

 = 23 (88%); FAODs

 = 14 (82%)). Indications for ETF were feeding difficulties in 64 (65%) patients, cessation of fasting in 39 (40%), and recurrent metabolic decompensation in 14 (14%). Complications of ETF weations, modalities, duration and complications of enteral tube feeding in a cohort of patients with inherited metabolic diseases.In rare cases the implantation or use of a port-a-cath can be complicated by venous perforation or catheter-related infection. We describe a patient with these two complications resulting in Staphylococcus aureus mediastinitis. Removal of the device and prolonged antibiotic therapy cured the infection.Staphylococcal Toxic Shock Syndrome (TSS) is characterized by rapid onset of fever, rash, hypotension, and multiorgan system involvement. Clinical manifestations of staphylococcal TSS include fever, chills, hypotension, and a diffuse macular erythroderma followed by desquamation one to two weeks later. The disease came to public attention in the 1980s with the occurrence of a series of menstrual-associated cases. However, the relative incidence of staphylococcal TSS not associated with menstruation has increased, and still, it remains an overlooked cause of septic shock. We present the case of a healthy 19-year-old male that presented with fever, chills, malaise, near-syncope, and a non-fluctuant, mobile nodule in the left armpit. The patient developed septic shock requiring critical care. He underwent extensive investigations resulting negative except for PCR for the detection of MRSA, raising the suspicion for STSS. For that reason, antibiotics for staphylococcal coverage were started, after which he started to improve. Ultimately, the mobile nodule evolved to fluctuant access. Incision and drainage was performed, and cultures confirmed the presence of Staphylococcus aureus.This work describes the design, development and added value of breast-supporting cups to immobilize and position the pendant breast in photoacoustic tomographic imaging. We explain the considerations behind the choice of the material, the shape and sizes of a cup-shaped construct for supporting the breast in water in an imaging tank during full-breast imaging. We provide details of the fabrication, and other processing and testing procedures used. Various experiments were conducted to demonstrate the added value of using these cups. We show that breast movement during a measurement time of four minutes is reduced from maximum 2 mm to 0.1 mm by the use of cups. Further, the presence of the cup, centered in the aperture leading to the imaging tank, ensures that the breast can be reproducibly positioned at the center of the field-of-view of the detection aperture in the tank. Finally, since an accurate delineation of the water-tissue boundary can now be made, the use of the cup enables accurate application of a two-speed of sound model for reconstruction. All in all, we demonstrate that the use of cups to support the breast provides clear enhancement in contrast and resolution of breast images in photoacoustic imaging.

Ascites is a common, morbid complication of cirrhosis. Nutritional interventions such as sodium-restriction and high-protein diet are considered standard of care. However, their evidence base is limited. We performed a systematic review of randomized trials of nutritional interventions for ascites.

Increasing consumption of calories and protein alone was ineffective. Studies reached contradictory conclusions regarding sodium restriction in patients taking combination diuretics. Intravenous amino acid infusion alone did not improve outcomes, peripheral parenteral nutrition did not improve outcomes except alone but reduced mortality in conjunction with branched-chain amino acid evening snack.

Patients may benefit from sodium restriction and a protein-rich evening snack. Future trials should prioritize standardizing nutritional targets and tailoring interventions to the specific needs of patients including the socioeconomic factors impacting adherence.

Patients may benefit from sodium restriction and a protein-rich evening snack. Future trials should prioritize standardizing nutritional targets and tailoring interventions to the specific needs of patients including the socioeconomic factors impacting adherence.Biallelic variants in MMACHC results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters, and treatment outcomes, who were diagnosed and treated at our center. We divided all cblC patients into two groups group 1 SX group identified after manifestations of symptoms (n = 11) and group 2 NB group identified during the asymptomatic period via newborn screening (NBS) or positive family history of cblC deficiency (n = 15). All patients in the SX group had global developmental delay and/or cognitive dysfunction at the time of the diagnosis and at the last assessment. Seizure, stroke, retinopathy, anemia, cerebral atrophy, and thin corpus callosum in brain magnetic resonance imaging (MRI) were common in patients in the SX group. Global developmental delay and cognitive dysfunction was present in nine patients in the NB group at the last assessment. Retinopathy, anemia, and cerebral atrophy and thin corpus callosum in brain MRI were less frequent.