Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and outcome of treatment in this condition remain to be delineated. Here we report a patient who exhibited complete growth hormone deficiency who responded to hormonal treatment but with adverse effects. Horseshoe kidney was present in this patient, which is also atypical in BFLS. A heterozygous nonsense mutation c.673C>T (p.R225X) of PHF6 gene was identified in the patient, inherited from her unaffected mother. Both the patient and her mother showed highly skewed X-inactivation. We reviewed the phenotypes of all reported BFLS cases, and summarized their endocrine presentations. This first report of an Asian patient with BFLS further delineated the genetic and phenotypic spectrum of the syndrome. The adverse effect experienced by the patient suggests caution in the use of growth hormone treatment in this condition.

BackgroundStroke is an acute disorder and dysfunction of the focal neurological system that has long been recognized as one of the leading causes of death and severe disability in most regions globally. This study aimed to supplement and exploit multiple comorbidities, laboratory tests and demographic factors to more accurately predict death related to stroke, and furthermore, to make inferences about the heterogeneity of treatment in stroke patients to guide better treatment planning.MethodsWe extracted data from the Medical Information Mart from the Intensive Care (MIMIC)-IV database. We compared the distribution of the demographic factors between the control and death groups. Subsequently, we also developed machine learning (ML) models to predict mortality among stroke patients. Furthermore, we used meta-learner to recognize the heterogeneity effects of warfarin and human albumin. We comprehensively evaluated and interpreted these models using Shapley Additive Explanation (SHAP) analysis.ResultsWe included 7,483 patients with MIMIC-IV in this study. Of these, 1,414 (18.9%) patients died during hospitalization or 30 days after discharge. We found that the distributions of age, marital status, insurance type, and BMI differed between the two groups. Our machine learning model achieved the highest level of accuracy to date in predicting mortality in stroke patients. We also observed that patients who were consistent with the model determination had significantly better survival outcomes than the inconsistent population and were better than the overall treatment group.ConclusionWe used several highly interpretive machine learning models to predict stroke prognosis with the highest accuracy to date and to identify heterogeneous treatment effects of warfarin and human albumin in stroke patients. Our interpretation of the model yielded a number of findings that are consistent with clinical knowledge and warrant further study and verification.

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Background Tranexamic acid (TXA) is safe and effective in total knee arthroplasty (TKA) for the prevention of bleeding. However, the role of TXA during unicompartmental knee arthroplasty (UKA) remains unclear. This study aimed to compare operative blood loss in patients undergoing UKA treated with an intra-articular injection of TXA with controls undergoing UKA without TXA. Material/Methods The prospective study included 101 patients who underwent UKA between January 2014 to March 2018. All patients completed a preoperative routine examination and were randomized to the study group (n=54) and the control group (n-47). The study group was given an articular injection of TXA (1.5 g in 50 ml normal saline) after the fascia was closed; the control group was injected with the same volume of normal saline. Blood volumes were measured from the drainage tube of the two groups during 48 hours. Total blood loss, postoperative drainage, hidden blood loss, blood transfusion rates, postoperative hemoglobin values, indicators of coagulation function, and the rates of wound complications were recorded. Results Total blood loss in the study group was 745.6±105.1 ml, total drainage volume was 353.9±79.5 ml, and the hidden blood loss was 391.7±80.5 ml, which were all significantly lower when compared with the control group (P<0.05). None of the patients in the two groups suffered complications of surgery. Conclusions Intra-articular injection of TXA significantly reduced the total blood loss in patients who underwent UKA and did not increase the rate of complications.

What is already known on this topic? Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS is featured by intellectual disability, developmental delay, obesity, epilepsy, characteristic face and anomalies of fingers and toes. Endocrine deregulation in BFLS was reported but not well delineated. u n c o r r e c t e d p r o o f What this study adds? We report a female with a novel nonsense mutation c.673C>T(p.R225X) of PHF6 gene. she exhibits certain features beyond the classic BFLS, including complete deficiency of growth hormone and horseshoe kidney, and adverse effects were elicited after growth hormone treatment in this patient, which was not reported before and cautions the use in this condition. We also reviewed all the BFLS case reports and summarized endocrine presentations and treatment in literature for the first time.

Creutzfeldt-Jakob disease (CJD) is an invariably fatal neurodegenerative disease, caused by tissue deposition of a misfolded prion protein (PrP) [1]. It is categorized etiologically into sporadic, genetic, iatrogenic, and variant forms [2]. The genetic form of CJD, accounting for approximately 10%-15% of all cases, results from prion protein encoding gene PRNP mutation and is inherited with an autosomal dominant pattern [2].While CJD classically presents as rapidly progressive dementia, a small subgroup of cases present with prominent visual symptoms at

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In order to improve the proton conductivity of hollow silica spheres (HSS)/perfl uorosulfonic acid ion-exchange (PFSA) composite membranes as proton exchange membrane, sulfonic acid groups were grafted onto the surfaces of HSS via post grafting methods. TEM images and FT-IR spectra of the obtained sulfonic acid groups modified hollow silica spheres (SAMHSS) illustrated that the sulfonic acid groups were successfully grafted onto the surfaces of HSS. Water uptake and swelling degree of SAMHSS/PFSA composite membranes were found much higher than those of HSS/PFSA membranes due to the introduction of hydrophilic sulfonic acid groups. In a range from 50 ℃ to 130 ℃, the highest conductivity of composite membranes was obtained when 5 wt% SAMHSS was loaded. The maximum conductivity reached 7.5×10 2 S•cm 1 at 100 ℃ and 100% relative humidity, even the temperature increased to 130 ℃, the conductivity of composite membranes with 5 wt% SAMHSS could reach 3.7×10 2 S•cm 1 at 100 % relative humidity, while the conductivity of the recast PFSA was only 2.2×10 3 S•cm 1 .