Symptomatic lower urinary tract dysfunction in sacral agenesis: Potentially high risk?

Introduction: Sacral agenesis (SA) is a caudal regression anomaly that can cause neurogenic bladder but is not generally recognized as high risk. We studied the clinical presentation, upper urinary tract, bone and spine abnormalities, and urodynamic findings in patients with SA and compared them with related high-risk conditions, anorectal malformation (ARM), and cloacal malformation. Materials and Methods: Patient records between May 2011 and December 2015 were identified and grouped into isolated SA without an overt anomaly (Group I), SA with overt caudal regression anomalies (Group II), and ARM or cloacal malformation without the SA (Group III). Distribution of clinical and urodynamic findings and factors associated with reduced eGFR were tested with rank sum test, t-test, and unadjusted odds (P < 0.05 significant) using R statistical program (version 3.1.3). Results: Of 605 neurogenic bladder patients treated in the study period, 39 fulfilled the inclusion criteria. 12 were Group I, 5 Group II, and 22 Group III. Long-standing lower urinary symptoms were noted in all SA patients. Group I patients were older (14.5 years vs. 6 years and 5 years for II and III). Patients with SA (Group I and II) had poor compliance (6.7 ml/cmH2O, interquartile range [IQR] 4–13.6 ml/cmH2O), reduced age-adjusted bladder capacity (59%, IQR 22–85%), elevated end-fill pressure (22 cmH2O, IQR 11–28 cmH2O), hydronephrosis (88%), and reduction in eGFR (29%), all comparable to Group III. Most had Renshaw type II SA and tethered spinal cord rather than wedge-shaped termination. Limitations include small numbers and significant selection bias. Conclusions: Symptomatic neurogenic bladder due to SA may cause renal damage similar to ARM but often eludes diagnosis

Hot water epilepsy: Phenotype and single photon emission computed tomography observations

We studied the anatomical correlates of reflex hot water epilepsy (HWE) using multimodality investigations viz. magnetic resonance imaging (MRI), electroencephalography (EEG), and single photon emission computed tomography (SPECT). Five men (mean age: 27.0 ΁ 5.8 years) with HWE were subjected to MRI of brain, video-EEG studies, and SPECT scan. These were correlated with phenotypic presentations. Seizures could be precipitated in three patients with pouring of hot water over the head and semiology of seizures was suggestive of temporal lobe epilepsy. Ictal SPECT showed hyperperfusion in: left medial temporal - one, left lateral temporal - one, and right parietal - one. Interictal SPECT was normal in all five patients and did not help in localization. MRI and interictal EEG was normal in all the patients. The clinical and SPECT studies suggested temporal lobe as the seizure onset zone in some of the patients with HWE

Epoxidation of soybean oil by insitu formation of peracid in the presence of zeolites

566-571The catalytic epoxidation of soybean oil with hydrogen peroxide as oxidant has been accomplished using HZSM-5-, HYand Hß- zeolite catalysts. The prepared catalysts are characterized by XRD, FTIR, and BET surface area. The catalytic epoxidation of soybean oil is studied as a function of time. The results show that all three catalysts exhibit higher conversion and selectivity of epoxidized soybean oil. Optimized protocol provides 85 %, 83 % and 70.55 %, conversion, selectivity and yield, respectively with HZSM-5 catalyst. The reaction occurs inside the pores of the zeolite framework via insitu formation of performic acid which further catalyzed by acid sites

Unveiling the Enigma: Exploring capsular contracture–Unraveling its link with autoimmune disorders and comprehensive examination of predisposing factors

Introduction: Breast augmentation, a popular cosmetic surgery using devices like silicone implants, can lead to a common issue called capsular contracture (CC). This condition involves the formation of fibrous tissue around the implants and can be influenced by variables like immunological and bacterial factors. This study aimed to explore the impact of autoimmune diseases (ADs) on CC along with other factors influencing future clinical decisions. Methods: A systematic review of electronic databases was conducted using PubMed, Web of Science, Scopus, EMBASE, and involving adult patients (>18) with CC and ADs after breast surgery using MeSH terminology using a broad search strategy. All searches were performed and analyzed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, and duplicates were removed with Rayyan. Two independent investigators extracted and assessed the data involving demographics and baseline data related to CC and AD. Results: The incidence of CC varied (2.3%-4.1%). Subglandular placement and older device age raised risk. SERI Surgical Scaffold complications included necrosis, seroma, hematoma, implant loss, and infection; CC was associated with necrosis. Natrelle 410 implants showed lower 10-year CC risk than round gel implants. Acellular dermal matrix implant-based breast reconstruction with radiotherapy (RT) correlated with 20.7% post-RT CC. Previous research demonstrated no significant connection between silicone gel implants and ADs. Biofilm, surgical site infection, implant features, and interventions emerged as frequent CC risk factors. Conclusion: Finding appropriate techniques to reduce the risk factors associated with CC together with providing comprehensive patient counseling on these factors will definitely improve the patient-centered outcome of breast implant surgery

Mapping genetic markers of artemisinin resistance in <i>Plasmodium falciparum</i> malaria in Asia: a systematic review and spatiotemporal analysis

Background The increase in artemisinin resistance threatens malaria elimination in Asia by the target date of 2030 and could derail control efforts in other endemic regions. This study aimed to develop up-to-date spatial distribution visualisations of the kelch13 (K13) gene markers of artemisinin resistance in Plasmodium falciparum for policy makers. Methods In this systematic review and spatiotemporal analysis we used the WorldWide Antimalarial Resistance Network (WWARN) surveyor molecular markers of artemisinin resistance database. We updated the database by searching PubMed and SCOPUS for studies published between Jan 1, 1990, and March 31, 2021. Articles were included if they contained data on K13 markers of artemisinin resistance from patients' samples in Asia and articles already included in the WWARN database were excluded. Data were extracted from the published articles and authors were contacted when information was missing. We used the lowest administrative unit levels for the sampling locations of all the K13 data to describe the spatiotemporal distribution. The numbers of samples tested and those with each molecular marker in each administrative unit level were aggregated by year to calculate the marker prevalence over time. Findings Data were collated from 72 studies comprising K13 markers from 16 613 blood samples collected from 1991 to 2020 from 18 countries. Most samples were from Myanmar (3842 [23·1%]), Cambodia (3804 [22·9%]), and Vietnam (2663 [16·0%]). The median time between data collection and publication was 3·6 years (range 0·9–25·0, IQR 2·7 [2·5–5·2]). There was a steady increase in the prevalence of WHO-validated K13 markers, with the lowest of 4·3% in 2005 (n=47) and the highest of 62·9% in 2018 (n=264). Overall, the prevalence of Cys580Tyr mutation increased from 48·9% in 2002 to 84·9% in 2018. Interpretation From 2002 to 2018, there has been a steady increase in geographical locations and the proportion of infected people with validated artemisinin resistance markers. More consistent data collection, over more extended periods in the same areas with the rapid sharing of data are needed to map the spread and evolution of resistance to better inform policy decisions. Data in the literature are reported in a heterogeneous way leading to difficulties in pooling and interpretation. We propose here a tool with a set of minimum criteria for reporting future studies

Spatial transcriptomics reveals distinct and conserved tumor core and edge architectures that predict survival and targeted therapy response

Abstract The spatial organization of the tumor microenvironment has a profound impact on biology and therapy response. Here, we perform an integrative single-cell and spatial transcriptomic analysis on HPV-negative oral squamous cell carcinoma (OSCC) to comprehensively characterize malignant cells in tumor core (TC) and leading edge (LE) transcriptional architectures. We show that the TC and LE are characterized by unique transcriptional profiles, neighboring cellular compositions, and ligand-receptor interactions. We demonstrate that the gene expression profile associated with the LE is conserved across different cancers while the TC is tissue specific, highlighting common mechanisms underlying tumor progression and invasion. Additionally, we find our LE gene signature is associated with worse clinical outcomes while TC gene signature is associated with improved prognosis across multiple cancer types. Finally, using an in silico modeling approach, we describe spatially-regulated patterns of cell development in OSCC that are predictably associated with drug response. Our work provides pan-cancer insights into TC and LE biology and interactive spatial atlases ( http://www.pboselab.ca/spatial_OSCC/ ; http://www.pboselab.ca/dynamo_OSCC/ ) that can be foundational for developing novel targeted therapies

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency

CONTEXT: It is estimated that 3-30% of cases with isolated GH deficiency (IGHD) have a genetic etiology, with a number of mutations being reported in GH1 and GHRHR. The aim of our study was to genetically characterize a cohort of patients with congenital IGHD and analyze their characteristics. PATIENTS AND METHODS: A total of 224 patients (190 pedigrees) with IGHD and a eutopic posterior pituitary were screened for mutations in GH1 and GHRHR. To explore the possibility of an association of GH1 abnormalities with multiple pituitary hormone deficiencies, we have screened 62 patients with either multiple pituitary hormone deficiencies (42 pedigrees), or IGHD with an ectopic posterior pituitary (21 pedigrees). RESULTS: Mutations in GH1 and GHRHR were identified in 41 patients from 21 pedigrees (11.1%), with a higher prevalence in familial cases (38.6%). These included previously described and novel mutations in GH1 (C182X, G120V, R178H, IVS3+4nt, a>t) and GHRHR (W273S, R94L, R162W). Autosomal dominant, type II IGHD was the commonest form (52.4%), followed by type IB (42.8%) and type IA (4.8%). Patients with type II IGHD had highly variable phenotypes. There was no difference in the endocrinology or magnetic resonance imaging appearance between patients with and without mutations, although those with mutations presented with more significant growth failure (height, -4.7 +/- 1.6 SDS vs. -3.4 +/- 1.7 SDS) (P = 0.001). There was no apparent difference between patients with mutations in GH1 and GHRHR. CONCLUSIONS: IGHD patients with severe growth failure and a positive family history should be screened for genetic mutations; the evolving endocrinopathy observed in some of these patients suggests the need for long-term follow-up