Carrillolind1814

Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The CLN2 disease clinical rating scale (CLN2 CRS) was developed to monitor loss of motor function, language and vision as well as frequency of generalised tonic clonic seizures. Using CLN2 CRS in an open label clinical trial it was shown that Brineura slowed down the progression of CLN2 symptoms. Neurofilament light chain (NfL) is a protein highly expressed in myelinated axons. An increase of cerebrospinal fluid (CSF) and blood NfL is found in a variety of neuroinflammatory, neurodegenerative, traumatic, and cerebrovascular diseases. We analysed CSF NfL in CLN2 patients treated with Brineura to establish whether it can be used as a possible biomarker of response to therapy. Newly diagnosed patients had CSF samples collected and analysed at first treatment dose and up to 12 weeks post-treatment to look at acute changes. Patients on a compassionate use programme who were already receiving ERT for approximately 1yr had CSF samples collected and NfL analysed over the following 1.3 years (2.3 years post-initiation of ERT) to look at long-term changes. All newly diagnosed patients we investigated with classical late infantile phenotype had high NfL levels >2000 pg/ml at start of treatment. No significant change was observed in NfL up to 12 weeks post-treatment. After one year of ERT, two out of six patients still had high NfL levels, but all patients showed a continued decrease, and all had low NfL levels after two years on ERT. NfL levels appear to correspond and predict improved clinical status of patients on ERT and could be useful as a biomarker to monitor neurodegeneration and verify disease modification in CLN2 patients on ERT.Background SARS-CoV-2 that causes COVID-19 disease and led to the pandemic currently affecting the world has been broadly investigated. Different studies have been performed to understand the infection mechanism, and the involved human genes, transcripts and proteins. In parallel, numerous clinical extra-pulmonary manifestations co-occurring with COVID-19 disease have been reported and evidence of their severity and persistence is increasing. Whether these manifestations are linked to other disorders co-occurring with SARS-CoV-2 infection, is under discussion. In this work, we report the identification of toxin-like peptides in COVID-19 patients by application of the Liquid Chromatography Surface-Activated Chemical Ionization - Cloud Ion Mobility Mass Spectrometry. Methods Plasma, urine and faecal samples from COVID-19 patients and control individuals were analysed to study peptidomic toxins' profiles. Protein precipitation preparation procedure was used for plasma, to remove high molecular weight proteins anresence of these peptides opens new scenarios on the aetiology of the COVID-19 clinical symptoms observed up to now, including neurological manifestations.Background This paper presents a soft sensor design technique for the estimation of pitch and yaw angular positions of a Twin Rotor MIMO System (TRMS). The objective of the proposed work was to calculate the value of pitch and yaw angular positions using a stochastic estimation technique. Methods Measurements from optical sensors were used to measure fan blade rotations per minute (RPM). The Kalman filter, which is a stochastic estimator, was used in the proposed system and its results were compared with those of the Luenberger observer and neural network. The Twin Rotor MIMO System is a nonlinear system with significant cross-coupling between its rotors. Results The estimators were designed for the decoupled system and were applied in real life to the coupled TRMS. The convergence of estimation to the actual values was checked on a practical setup. The Kalman filter estimators were evaluated for various inputs and disturbances, and the results were corroborated in real-time. Conclusion From the proposed work it was seen that the Kalman filter had at least Integral Absolute Error (IAE), Integral Square Error (ISE), Integral Time Absolute Error (ITAE) as compared to the neural network and the Luenberger based observer.The Avon Longitudinal Study of Parents and Children (ALSPAC) is a prospective population-based cohort which recruited pregnant women in 1990-1992 and has followed these women, their partners (Generation 0; G0) and their offspring (Generation 1; G1) ever since. The study reacted rapidly and repeatedly to the coronavirus disease 2019 (COVID-19) pandemic, deploying multiple online questionnaires and a previous home-based antibody test in October 2020. A second antibody test, in collaboration with ten other longitudinal population studies, was completed by 4,622 ALSPAC participants between April and June 2021. Of 4,241 participants with a valid spike protein antibody test result (8.2% were void), indicating antibody response to either COVID-19 vaccination or natural infection, 3,172 were positive (74.8%). Generational differences were substantial, with 2,463/2,555 G0 participants classified positive (96.4%) compared to 709/1,686 G1 participants (42.1%). Of 4,199 participants with a valid nucleocapsid antibody tesa note describes the second ALSPAC antibody test and the data obtained from it.Null.Null.Null.Null.Null.Null.This study is aimed to evaluate pediatric patients, who were hospitalised in the Department of Pediatrics, University of Health Sciences, Adana City Training and Research Hospital, Turkey, between January, 2019 and January, 2020, and treated with pulse steroid therapy and the early side effects of their treatment. The fasting blood glucose levels of the patients during treatment were statistically significantly higher than those prior to the treatment. The most common side effects observed in the patients were dermatological (48.5%), psychiatric (31.4%), and gastrointestinal (31.4%). Hypertension was detected in seven patients (20%) after treatment; and continued in three, who subsequently underwent antihypertensive treatment. Pulse steroid treatment was administered for a median of five days (3-11 days). It was found that 24 patients responded to treatment, 11 patients did not respond, and one patient died. There is a shortage of studies in literature on pulse steroid therapy and its side effects, especially focusing on children. Multicentre and randomised controlled studies are needed comprising different patient groups to evaluate the efficacy and complications associated with its use. Key Words Children, Side effect, Pulse steroid treatment.Peritoneal carcinomatosis (PC) is a common presentation of several gastrointestinal and gynecological malignancies. Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (CRS + HIPEC) is a treatment regimen recently introduced in Pakistan for PC. The goal of cytoreductive surgery is complete removal of macroscopic disease. HIPEC is administered following surgery, with the aim of eliminating disease at a microscopic level. In this study, 11 patients, who underwent CRS+HIPEC at the Shifa International Hospital, Islamabad, Pakistan, were selected. Disease severity was classified using PCI score. selleck compound There were 54.5% women and 45.5% men with mean age of 48.5 ± 12.5 years. The mean PCI score was 20.3 ± 3.4. The mean time from diagnosis was 12.7 ± 11.6 months. A complete tumor resection (CC-0) was achieved in 10 (90.9%) patients, while the rest were CC-1. The duration of HIPEC circulation was 90 minutes in every patient. Postoperative morbidity was observed in 2 (18.2%) patients. No 30-day perioperative mortality was seen. It was concluded that with effective patient selection, surgical skills and center experience, CRS+HIPEC can have low perioperative morbidity and mortality, and complete cytoreduction leads to prolonged overall survival. Key Words Peritoneal carcinomatosis, Cytoreductive surgery, Hyperthermic intraperitoneal chemotherapy.Oral leukoplakia is the most common potentially malignant oral disorder. Oral leukoplakia's malignant potential is independent of the histopathological grade, and the malignant transformation rate varies greatly from 3% to 50% even in the case of severe epithelial dysplasia. Ethnic & environmental variables may contribute to this variation. C-kit immunohistochemistry was performed on 15 oral leukoplakia (OL), two oral squamous cell carcinoma (OSCC), and two dentigerous cysts (DC). The objective of this study was to evaluate the c-kit expression in oral leukoplakia. The use of various immunohistochemical markers to differentiate between OLs with a high and low risk of malignant transformation has been investigated. Only four OL exhibited a faint cytoplasmic expression in basal cells. Whereas, OSCC and DC were devoid of c-kit expression. Thus, this may not be a unique marker for identifying OL at high-risk. Further research with larger sample size is required. Key Words CD 117, Disease progression, Oral dysplasia, Oral leukoplakia, Risk prediction.The present study reports a case of intentional replantation (IR) for a right mandibular second premolar (#45). For the present case, root canal retreatment was first considered after removal of the metal post and core. When the metal post and core could not be removed from #45, micro-apical surgery or intentional tooth replantation was performed. Six-month postoperative evaluation revealed that the right mandibular second premolar had no obvious symptoms of discomfort, and the clinical follow-up revealed uneventful healing and good bone regeneration. The short-term clinical efficacy was acceptable. For cases with root canal treatment failure, when the apical surgical access could not be established due to the adjacent important anatomical structures, IR may be employed as an accepted endodontic treatment procedure. Key Words Root canal treatment failure, Post-core crown, Root canal retreatment, Intentional replantation.Low insertion of median arcuate ligament (MAL) can cause compression over the celiac trunk with subsequent complications. During liver transplantation procedure, the graft artery is usually anastomosed with the hepatic artery of the recipient, which arises from the celiac trunk. MAL compression might reduce hepatic arterial blood flow to the graft, which can induce postoperative hepatic arterial thrombosis, causing graft failure. Here, we report a case of liver transplant procedure, during which pulsation of hepatic artery of the recipient diminished dramatically, after ligation of gastro-duodenal artery. However, dissection and division of MAL restored excellent hepatic arterial blood flow. This case highlights the significance of prompt diagnosis and management of MAL compression syndrome in liver transplant recipients during transplant surgery. Key Words Celiac trunk, Median arcuate ligament, Liver transplant.Brucellosis is an endemic disease in Saudi Arabia, which can present with variable clinical manifestations. It is a zoonotic disease transmitted from animals to humans. Brucellosis is a multisystemic disease that can present with any system involvement; and neurobrucellosis is a serious complication, sometimes leading to permanent neurological deficit, if treatment is not started promptly. Herein, we present a 6-year boy with neurobrucellosis, who developed demyelination of cerebral white matter and presented with fever and seizures. Key Words Neurobrucellosis, Demyelination, White matter.