Notes

Laparoscopic revisional medical procedures for failed anti-reflux procedures.
Purpose Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye.Methods Case reportResults A male infant was delivered by Caesarean section at 38 weeks with a birth weight of 2040 gr and admitted to neonatal intensive care unit due to multi-systemic abnormalities. The infant had multiple congenital anomalies; a cleft palate, microcephalia, micrognathia, renal pelvicalyceal ectasia, atrial septal defect, transvers arcus hypoplasia, patent ductus arteriosus, hypospadias and undescended testicle. Fundus examination revealed optic disc coloboma of both eyes. Two weeks later, at the second examination, the left optic disc margins were indistinct with vessels radiating from the disc margins which resembles morning glory disc anomaly (MGDA). The MRI demonstrated corpus callosum agenesis and a T1 hypointense, T2 hyperintense, 12 × 9 mm optic nerve sheath enlargement in the retrobulbar area.Conclusion The case presented here demonstrates that, the optic nerve head malformations and optic nerve sheath enlargement may be due to incomplete closure of choroidal fissure and subsequent accumulation of cerebrospinal fluid may result in a spectrum of optic nerve head malformations.
Patients with end-stage liver disease (ESLD) have impaired physical, psychological, and social functions, which can diminish patient quality of life, burden family caregivers, and increase health-care utilization. For those with a life expectancy of less than six months, these impairments and their downstream effects can be addressed effectively through high-quality hospice care, delivered by multidisciplinary teams and focused on the physical, emotional, social, and spiritual wellbeing of patients and caregivers, with a goal of improving quality of life.

In this review, we examine the evidence supporting hospice for ESLD, we compare this evidence to that supporting hospice more broadly, and we identify potential criteria that may be useful in determining hospice appropriateness.

Despite the potential for hospice to improve care for those at the end of life, it is underutilized for patients with ESLD. Increasing the appropriate utilization of hospice for ESLD requires a better understanding of patient eligibility, which can be based on predictors of high short-term mortality and liver transplant ineligibility. Such hospice criteria should be data-driven and should accommodate the uncertainty faced by patients and physicians.
Despite the potential for hospice to improve care for those at the end of life, it is underutilized for patients with ESLD. Increasing the appropriate utilization of hospice for ESLD requires a better understanding of patient eligibility, which can be based on predictors of high short-term mortality and liver transplant ineligibility. Such hospice criteria should be data-driven and should accommodate the uncertainty faced by patients and physicians.
Celiac disease (CD) is commonly found in women. Given the sex differences in diagnosed patients, we hypothesized sex differences in physicians obtaining biopsies for CD may exist.

We retrospectively reviewed duodenal biopsies for suspected CD excluding pre-existing CD patients. Appropriate biopsy practice was defined as ≥5 specimens per ACG guidelines.

We included 125 patients (females, 92). There were 85 properly (68%) biopsied. Presence of a female endoscopist was associated with better adherence to biopsy guidelines (OR, 2.99, 95% CI, 1.19-7.54;
 = .02) which remained significant after multivariable adjustment (adjusted OR, 2.7;
 = .047).

Physician sex-based differences in biopsy patterns may exist.
Physician sex-based differences in biopsy patterns may exist.Ethylene spent caustic with strong alkalinity, high chemical oxygen demand (COD) and toxicity could not be directly discharged without pretreatment. selleck kinase inhibitor In this paper, the composition of spent caustic from a petrochemical enterprise was analyzed. Effects of oxidants, reaction temperature, pressure and residence time on the removal ratio of COD in the spent caustic were investigated. The oxidation reaction mechanism of main organic sulphides in the spent caustic was discussed. Results show that COD of the ethylene spent caustic is ∼ 24.5 g/L, the main compositions are S2- and disulphides including a small amount of ketones and phenolic organics. The removal ratio of S2- in spent caustic is up to 100%, and the removal ratio of COD is over 83% at 180 °C with the pressure of 2 MPa and residence time of 15 min using oxygen as an oxidant. Taking dimethyl disulphide as an example, dimethyl disulphide with HO• firstly produces methyl thiosulphonate and methyl sulphenic acid, then further oxidized to generate methanesulphonic acid, and the C-S bonds in the methanesulphonic acid were broken to generate sulphuric acid and formic acid. So the oxidative degradation products of organic sulphides are sulphuric acid, formic acid and a small amount of acetic acid.Background Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either pathogenic or benign, preventing a precise clinical diagnostic.Materials and Methods In the present work, we performed Whole Exome Sequencing and subsequent Sanger sequencing in a young male clinically diagnosed with OCA.Results Whole-exome sequencing analysis revealed the identification of two variants in trans in TYR. The first, corresponds to a known pathogenic variant G47D, while the second S192Y, was considered a polymorphism due to its relatively high frequency in the European population.Conclusion The lack of other pathogenic variants in TYR, the reported reduced enzymatic activity (ca. 40% respect to wt) for S192Y, together with the structural in-silico analysis strongly suggest that both reported variants are jointly disease-causing and that S192Y should be considered as likely pathogenic, especially when it is found in trans with a null variant.
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