Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.

Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helps maintain blood Phe control, but there is limited evidence on its risk-benefit ratio when used during pregnancy.

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

Background: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of achondroplasia among individuals across a broad range of ages, including adults.

Methods: Demographic, clinical and healthcare resource use data were collected from medical records of achondroplasia patients enrolled in 13 sites across six European countries in this retrospective, observational study.

Understanding Wood Surface Chemistry and Approaches to Modification: A Review.

Wood was designed, after millions of years of evolution, to perform in a wet environment. Nature is programmed to recycle it, in a timely way, back to the basic building blocks of carbon dioxide and water. All recycling chemistries start with an invasion of the wood surface.

Limitations of animal epilepsy research models: Can epileptic human tissue provide translational benefit?

Advancement of understanding the etiology and treatment of epilepsy has largely depended on the use of acute and chronic animal models. An alternative approach, which is being increasingly used by a select number of laboratories worldwide, is to perform functional mechanistic studies in brain slices of living human tissue resected during surgery for drug resistant epilepsies. Pharmacoresistant epilepsy is a major clinical problem with a significant proportion of patients not receiving any symptomatic benefit from available anti-epileptic drugs.

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin can reduce phenylalanine (Phe) levels in tetrahydrobiopterin (BH4)-responsive patients, potentially preventing the intellectual impairment caused by elevated Phe levels. The long-term effect of sapropterin on intellectual functioning was assessed using the Full-Scale Intelligence Quotient (FSIQ) in 62 children who began treatment before the age of 6 years.

Innovation in Wood Preservation.

The wood preservation industry has depended on toxicity as a mechanism of effectiveness against decay fungi to extend the life of wood used in adverse conditions. An alternative to toxicity, however, is to study and understand the mechanism of fungal attack and stop it before it can start. Knowing that fungi need moisture for colonization, a new approach to wood preservation is to lower the cell wall moisture content below that needed for fungal attack.

Decoding human fetal liver haematopoiesis.

Definitive haematopoiesis in the fetal liver supports self-renewal and differentiation of haematopoietic stem cells and multipotent progenitors (HSC/MPPs) but remains poorly defined in humans. Here, using single-cell transcriptome profiling of approximately 140,000 liver and 74,000 skin, kidney and yolk sac cells, we identify the repertoire of human blood and immune cells during development. We infer differentiation trajectories from HSC/MPPs and evaluate the influence of the tissue microenvironment on blood and immune cell development.

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency, resulting in high blood and brain Phenylalanine (Phe) concentrations that can lead to impaired brain development and function. Standard treatment involves a Phe-restricted diet alone or in conjunction with sapropterin dihydrochloride in responsive patients. The Food and Drug Administration approved pegvaliase enzyme substitution therapy for adults with blood Phe >600 μmol/L in the US.

A pilot study of the effect of force feedback training on students learning flexion-distraction chiropractic technique.

Objective: We compared traditional training alone and with the addition of force feedback training for learning flexion-distraction chiropractic technique.

Methods: Participants were randomly allocated to two groups (traditional or traditional plus force feedback training). Students' forces were measured before training and after force feedback training.

Patients electing to have PET rather than surgery for operable breast cancer are a high risk of treatment failure.

Background: Primary endocrine therapy (PET) is a treatment option for elderly patients with ER-positive breast cancer enabling frail patients to avoid surgery. As a long-term treatment option, it has been shown to be inferior to surgery in controlling local disease. Decision-making in these patients is crucial in avoiding treatment failure.

Review: Molecular characteristics of long-term epilepsy-associated tumours (LEATs) and mechanisms for tumour-related epilepsy (TRE).

Brain tumours are the second most common cause of seizures identified in epilepsy surgical series. While any tumour involving the brain has the potential to cause seizures, specific subtypes are more frequently associated with epilepsy. Tumour-related epilepsy (TRE) has a profound impact on patients with brain tumours and these seizures are often refractory to anti-epileptic treatments, resulting in long-term disability and patient morbidity.

An observational study investigating failure of primary endocrine therapy for operable breast cancer in the elderly.

Background: Elderly patients are more likely to have oestrogen receptor positive cancers that can be treated without surgery with primary endocrine therapy (PET). Few studies have sought to identify predictors of failure of PET and so the aim of this study was to evaluate treatment failures in elderly breast cancer patients treated with PET and to determine predictors of failure.

Methods: A retrospective observational study was performed on consecutive patients with ER-positive early stage breast cancer treated with PET between 2005 and 2015 in the three breast units in the North East of England.

Prospective Multicenter Observational Study of Overt Hepatic Encephalopathy.

Background: Overt hepatic encephalopathy (OHE) is a frequent complication of decompensated cirrhosis.

Aims: A multicenter prospective observational study was performed to assess the most commonly recorded presenting manifestations of OHE and its associated health-care burden.

Methods: Qualifying patients must have experienced ≥1 OHE episode within 30 days of enrollment (qualifying OHE) and were followed for recurrence (on-study OHE).

Fasting Blood Ammonia Predicts Risk and Frequency of Hepatic Encephalopathy Episodes in Patients With Cirrhosis.

Background & Aims: There is controversy over the use of measuring blood levels of ammonia (NH3) in the management of patients with overt hepatic encephalopathy (HE).

Methods: We performed a retrospective analysis of data from a randomized, double-blind study of 178 patients with cirrhosis given glycerol phenylbutyrate (an NH3-lowering agent) or placebo for 16 weeks. Blood samples were collected at baseline and on study days 7 and 14 and NH3 levels were measured.

Similar Effects of Thrust and Nonthrust Spinal Manipulation Found in Adults With Subacute and Chronic Low Back Pain: A Controlled Trial With Adaptive Allocation.

Study Design: A three-arm controlled trial with adaptive allocation.

Objectives: The aim of this study was to compare short-term effects of a side-lying, thrust spinal manipulation (SM) procedure and a nonthrust, flexion-distraction SM procedure in adults with subacute or chronic low back pain (LBP) over 2 weeks.

Summary Of Background Data: SM has been recommended in recently published clinical guidelines for LBP management.

An overview of the genetics, mechanisms and management of NAFLD and ALD.

Alcoholic liver disease (ALD) and, increasingly, non-alcoholic fatty liver disease (NAFLD) are common causes of advanced liver disease in many developed countries including the UK. Both diseases share parallel natural histories, progressing from steatosis, to steatohepatitis and fibrosis/cirrhosis; and are characterised by substantial interindividual variation in disease outcome. This article will provide an overview of disease mechanisms, genetic modifiers and management, focusing principally on NAFLD, while drawing parallels between the two conditions where appropriate.

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

Unlabelled: Blood ammonia and glutamine levels are used as biomarkers of control in patients with urea cycle disorders (UCDs). This study was undertaken to evaluate glutamine variability and utility as a predictor of hyperammonemic crises (HACs) in UCD patients.

Methods: The relationships between glutamine and ammonia levels and the incidence and timing of HACs were evaluated in over 100 adult and pediatric UCD patients who participated in clinical trials of glycerol phenylbutyrate.

Clinical relevance of KRAS-mutated subclones detected with picodroplet digital PCR in advanced colorectal cancer treated with anti-EGFR therapy.

Purpose: KRAS mutations are predictive of nonresponse to anti-EGFR therapies in metastatic colorectal cancer (mCRC). However, only 50% of nonmutated patients benefit from them. KRAS-mutated subclonal populations nondetectable by conventional methods have been suggested as the cause of early progression.

Intradiscal Pressure Changes during Manual Cervical Distraction: A Cadaveric Study.

The objective of this study was to measure intradiscal pressure (IDP) changes in the lower cervical spine during a manual cervical distraction (MCD) procedure. Incisions were made anteriorly, and pressure transducers were inserted into each nucleus at lower cervical discs. Four skilled doctors of chiropractic (DCs) performed MCD procedure on nine specimens in prone position with contacts at C5 or at C6 vertebrae with the headpiece in different positions.

Low-back pain, leg pain, and chronic idiopathic testicular pain treated with chiropractic care.

Objectives: The purpose of this article is to report the case of a patient who had low-back pain, leg pain, and idiopathic chronic testicular pain and who sought chiropractic care for his low-back and leg pain and received pain relief including his testicular pain.

Subject: A 36-year-old male patient had low-back pain, right leg pain, and testicular pain that was worsening. All had been present for 5 years.

Efficacy of low-dose acitretin in the treatment of psoriasis.

Objectives: Clinical experience favors low doses of acitretin to reduce adverse events but still maintain efficacy. We revisited the pivotal acitretin trials to compare the efficacy of high- versus low-dose acitretin.

Materials And Methods: We analyzed data from two large randomized trials which had an 8-week, double-blinded (DB), placebo-controlled phase followed by a 16-week open-label (OL) phase.

A randomized controlled trial comparing 2 types of spinal manipulation and minimal conservative medical care for adults 55 years and older with subacute or chronic low back pain.

Objective: Chiropractic care is used by many older patients for low back pain (LBP), but there are no published results of randomized trials examining spinal manipulation (SM) for older adults. The purpose of this study was to compare the effects of 2 biomechanically distinct forms of SM and minimal conservative medical care (MCMC) for participants at least 55 years old with subacute or chronic nonradicular LBP.

Methods: Randomized controlled trial.

Microbicides for HIV/AIDS. 3. Observation of apparent dynamic protonation and deprotonization in CD4+ T-cell model systems.

New measurements of the electrophoretic mobility of T-cell model systems have been carried out and analyzed to obtain the dynamic variation in mobility in small titration increments during separate upscale and downscale sweeps in pH. We demonstrate that a plot of plambda vs p[NaCl] has been found essential in evaluating the consistency of electrophoretic mobility measurements at different (1:1) electrolyte concentrations and show, for the first time, that electrophoretic mobility measurements as a function of pH can reflect different rates of the respective ionization and association that occur in the surface functional groups as a consequence of the different changes in the hydration-dehydration reactions involved. Differences found between the upscale and downscale sweeps suggest that it is easier to protonate a protein cell surface than to deprotonate it.