LAL treatment in adults

Understanding the clinical characteristics and medical treatment of individuals affected by genetic epilepsies is instrumental in guiding selection for genetic testing, defining the phenotype range of these rare disorders, optimizing patient care pathways and pinpointing unaddressed medical need by quantifying healthcare resource utilization. To date, a matched longitudinal cohort study encompassing the entire spectrum of clinical characteristics and medical treatment from childhood through adolescence has not been performed...

There is evidence to suggest that M-type phospholipase A2 (PLA2R) antibodies activate the mannose-binding lectin (MBL) cascade, resulting in glomerular damage and proteinuria in patients with primary membranous nephropathy (PMN). Furthermore, there are few reports indicating that aberrant MBL activation is associated with endothelial dysfunction and accelerated atherosclerosis. While PMN is a common cause of adult nephrotic syndrome, and patients are at increased risk of cardiovascular disease (CVD), there is a lack of research that explores the factors that contribute to this condition...

Gastrinomas with predilection for the adult male population are located in the gastrinoma triangle (>90%). Primary hepatic gastrinoma especially in pediatric population is very rare. Peptide receptor radionuclide therapy has shown benefit in metastatic gastroenteropancreatic neuroendocrine tumors (NETs) with an increasing interest in expanding its role as neoadjuvant treatment modality to improve the surgical candidature in inoperable NETs. There is currently no literature supporting its role in the pediatric NET patients...

INTRODUCTION: Conjunctivitis is a highly prevalent ocular disease that flares up every year. The humidity and high temperature favour the causative agents responsible for the epidemic. Acute infective conjunctivitis may be either viral or bacterial, a distinct type of condition with unique clinical features and treatment approaches. The aim of the study was to find out the prevalence of acute conjunctivitis among patients visiting the outpatient Department of Ophthalmology in a tertiary care centre...

Dental anxiety is a common problem encountered in dental clinics that affects both patients and dentists. Adequate management of dental anxiety is critical for optimal treatment outcomes for the patient. This study aims to assess the efficacy of two anxiety-reduction techniques (iatrosedation and music listening) for dental crown preparation in adult patients. In this clinical trial, 60 patients were randomly assigned to three groups: Group 1, iatrosedation; Group 2, music listening; and Group 3, control. Patients in all three groups underwent dental crown preparation...

INTRODUCTION: Primary brain tumors are a common cause of morbidity and mortality in children and young people (CYP) globally. Impaired neurocognitive function is a potential severe consequence in primary brain tumor (PBT) survivors. There are no in-depth studies from low- and middle-income countries (LMICs) to inform management and follow-up. The research questions of this study were as follows: Are the sociodemographic factors (lower age of CYP, female gender, low socioeconomic status, low parental education), disease-related factors (high grade of tumor, presence of seizures, presence of hydrocephalous), and treatment-related factors (adjuvant therapy, no surgical intervention, post-treatment seizures, placement of shunts) associated with decline in neurcognition outcomes 12 months post-treatment in CYP with PBTs? METHODS: A prospective cohort study was conducted from November 2020 to July 2023 at the Aga Khan University Hospital and Jinnah Postgraduate Medical Centre, tertiary care hospitals in Karachi, Pakistan...

CLINICAL RELEVANCE: Understanding devices used for vision screening, including their potential utilisation and validity, will facilitate proper utilisation of this technology. BACKGROUND: The Acuidrive is a self-illuminated, hand-held, visual acuity screening device intended for use in policing, with visual acuity assessed roadside to identify drivers who may not meet vision standards for driving. The target is presented binocularly at 24 cm, and +4...

BACKGROUND: Good oral health is an important part of healthy ageing, yet there is limited understanding regarding the status of oral health care for older people globally. This study reviewed evidence (policies, programs, and interventions) regarding oral health care for older people. METHODS: A systematic search of six databases for published and grey literature in the English language by the end of April 2022 was undertaken utilising Arksey and O'Malley's scoping review framework...

PURPOSE: The cumulative effect of hyper-coagulative COVID-19 disease and using steroids leads to increased avascular necrosis (AVN) hip incidence. This study aims to correlate the various factors of COVID-19 infection with the occurrence of AVN hip. METHODS: It is a retrospective cross-sectional study of non-traumatic AVN hip patients with a history of COVID-19 infection. A total number of 50 patients satisfied the inclusion criteria. The following details were obtained: (a) patient's demographics, (b) COVID-19: interval of infection and groin pain, duration of symptoms, severity, steroid intake, (c) AVN hip: involved side, Ficat-Arlet staging...

BACKGROUND/IMPORTANCE: Dietary interventions, vitamins, and nutritional supplementation are playing an increasingly important role in the management of neuropathic pain. Current pharmacological treatments are poorly tolerated and ineffective in many cases. OBJECTIVE: This systematic review aims to study the efficacy of dietary interventions, vitamins, and nutritional supplementation in the management of chronic neuropathic pain in adults. EVIDENCE REVIEW: The review followed PRISMA guidelines and was registered with PROSPERO (#CRD42022300312)...

BACKGROUND: Bevacizumab-awwb (MVASI® ) was the first U.S. Food and Drug Administration-approved biosimilar to Avastin® (reference product [RP]) for the treatment of several different types of cancers, including metastatic colorectal cancer (mCRC), an indication approved based on extrapolation. OBJECTIVES: Evaluate treatment outcomes in mCRC patients who received first-line (1L) bevacizumab-awwb at treatment initiation or as continuing bevacizumab therapy (switched from RP)...

Acute-on-chronic liver failure (ACLF) is characterized by an acute hepatic insult happening in a patient with underlying cirrhosis with compromised hepatic reserve leading to development of systemic inflammation, sepsis, and organ failure resulting in poor outcome in majority. While Asia Pacific Association for Study of Liver Diseases (APASL) emphasizes on early diagnosis before development of organ failure, European Association for Study of Liver Diseases (EASL) mandates the presence of organ failures to define ACLF...

BACKGROUND AND AIMS: Intestinal failure (IF) is a recognised complication of Crohn's disease (CD). The aim of this study was to identify factors predicting the development and recurrence of CD in patients with IF (CD-IF), and their long-term outcomes. METHODS: This was a cohort study of adults with CD-IF admitted to a national UK IF reference centre between 2000-2021. Patients were followed from discharge with home parenteral nutrition (HPN) until death or 28.2...

OBJECTIVE: Patients with persistent, recurrent, or metastatic cervical cancer have poor prognosis. While recent advances have expanded treatment options, real-world data on treatment patterns and outcomes in this population are lacking. METHODS: This retrospective study identified adult females with persistent, recurrent, or metastatic cervical cancer from the ConcertAI Oncology Dataset who received systemic therapy on or after August 15, 2014. Patients were followed from persistent, recurrent, or metastatic diagnosis through third-line (3 L) therapy, death, end of record, or study end (June 2021)...

BACKGROUND: Achalasia sub-types affect treatment response in adults, but there is no similar data in children. We studied the differences in clinico-laboratory features and response to therapy between achalasia sub-types in children. METHODS: Forty-eight children (boys:girls-25:23, 14 [0.9-18] years) with achalasia (clinical, barium, high-resolution manometry [HRM], gastroscopy) were evaluated. The sub-type was determined by Chicago classification at HRM. Pneumatic dilatation (PD) or surgery was the primary therapy...

This scientific statement from the American Heart Association focuses on treatment strategies and modalities for cardiomyopathy (heart muscle disease) in children and serves as a companion scientific statement for the recent statement on the classification and diagnosis of cardiomyopathy in children. We propose that the foundation of treatment of pediatric cardiomyopathies is based on these principles applied as personalized therapy for children with cardiomyopathy: (1) identification of the specific cardiac pathophysiology; (2) determination of the root cause of the cardiomyopathy so that, if applicable, cause-specific treatment can occur (precision medicine); and (3) application of therapies based on the associated clinical milieu of the patient...

Endotoxemia and sepsis induce neuroinflammation and increase the risk of neurodegenerative disorders although the mechanism by which peripheral infection leads to brain inflammation is not well understood. While circulating serum lipoproteins are known immunometabolites with the potential to modulate the acute phase response and cross the blood brain barrier, their contribution to neuroinflammation during systemic infection is unknown. The objective of this study was to elucidate the mechanisms by which lipoprotein subclasses modulate lipopolysaccharide (LPS)-induced neuroinflammation...

BACKGROUND AND AIM: Chronic intestinal failure (IF) is a rare but life-altering condition, care delivery of which is complex. The ATLAS Programme was initiated in 2016 to increase disease awareness and address inconsistencies in delivery of care across Europe. We describe the results of a non-interventional study that aimed to explore how adult patients with chronic IF are managed across Europe. MATERIALS AND METHODS: This mixed-methods, non-interventional, cross-sectional study comprised a desk-based landscape assessment (Phase 1), qualitative interviews (Phase 2), and an online quantitative survey (Phase 3) completed by healthcare professionals (HCPs) involved in the management of adult patients with chronic IF during the period November 2020 to January 2021...

INTRODUCTION: In obese humans, Coleus forskohlii root extract (CF) protects against weight gain owing to the presence of forskolin, an adenylate cyclase (AC) activator. As AC increases intracellular cyclic adenosine monophosphate (cAMP) levels in osteoblasts that has an osteogenic effect, we thus tested the skeletal effects of a standardized CF (CFE) in rats. METHODS: Concentrations of forskolin and isoforskolin were measured in CFE by HPLC. CFE and forskolin (the most abundant compound present in CFE) were studied for their osteogenic efficacy in vitro by alkaline phosphatase (ALP), cAMP and cyclic guanosine monophosphate (cGMP) assays...

BACKGROUND & AIMS: Home parenteral nutrition (HPN) is the primary treatment for chronic intestinal failure (CIF) due to non-malignant disease and is increasingly used in patients with a diagnosis of cancer. This project engaged with patients, family members and healthcare professionals to ascertain what questions they want researched. METHODS: This study followed the five-stage process of the James Lind Alliance that involved (1) setting up a steering group, (2) carrying out an initial survey to gather participants' questions, (3) data processing, (4) an interim priority setting survey and (5) final priority setting workshop...