UCD

OBJECTIVES: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong protein-restricted diet. We aimed to investigate: 1/ whether IAAMDs was associated with growth, pubertal, bone mineral apparent density (BMAD) or body composition impairments; 2/ associations linking height, amino-acid mixture (AAM), plasma amino-acids and IGF1 concentrations. DESIGN: Retrospective longitudinal study of 213 patients with neonatal-onset urea cycle disorders (UCD,n = 77), organic aciduria (OA,n = 89), maple syrup urine disease (MSUD,n = 34), or tyrosinaemia type 1 (n = 13)...

BACKGROUND: The COVID-19 pandemic may have caused an underestimation of cardiovascular disease (CVD) mortality, as COVID-19 was predominantly recorded as the underlying cause of death. This study investigates CVD-related excess mortality and recording of CVD on the death certificates during 2020-2021, considering underlying (underlying causes of death (UCD)), immediate and contributory causes. METHODS: We utilize US Multiple-Cause-of-Death Mortality Data. Excess deaths are assessed by comparing actual 2020-2021 deaths with Seasonal Autoregressive Integrated Moving Average model predictions...

The aims of the presented study were (1) to examine the relationship between foetal measurements and gestational age (GA), (2) to generate GA formulas, and (3) to investigate the estimation of GA by transabdominal ultrasonography in buffaloes. Thirteen pregnant buffaloes were used in the study. Transrectal ultrasonography was performed between Day (D) 28 and 112 of gestational age, whereas transabdominal ultrasonography was between 126 and 294. The diameters of embryonic (EVD) and amniotic (AVD) vesicles, crown-rump length (CRL), occipito-nasal length (ONL), biparietal diameter (BPD), orbit diameter (OD), cervical, thoracic, lumbar and coccygeal vertebrae lengths (CVL, TVL, LVL, CcVL), abdominal diameter (AD), chest diameter (CD), umbilical cord diameter (UCD), scapula, humerus, radius-ulna, metacarpus, femur, tibia, and metatarsus lengths (SL, HL, RUL, McL, FL, TL, MtL), diameters of transversal heart (THD), stomach (SD), kidney (KD), and outer diameter, circumference and area of placentomas (OPD, OPC, OPA) were measured by ultrasonography...

Urea cycle disorders (UCDs) are a group of rare inborn errors of metabolism caused by a deficiency in one of the six enzymes or one of the two transporters involved in the urea cycle. Current guidelines suggest that early diagnosis and treatment of mild UCDs may improve survival and prevent decompensation and neurocognitive impairment. Nevertheless, clinical studies are very difficult to carry out in this setting due to the rarity of the diseases, and high-level evidence is scant and insufficient to draw conclusions and provide clinical guidelines...

INTRODUCTION: Shade matching is an essential procedure to obtain an esthetic prosthesis. The Direct Visual Shade Matching (DSM) method using shade guides is the most used method by dentists. However, The Indirect Visual Digital Shade Matching (ISM) method based on digital imaging is concerned to be reliable and useful in determining shade matching in dental practice. Several factors such as method, clinical experience, and gender can affect the success of shade matching. AIM OF THE STUDY: This study aimed to compare these two methods and evaluate the effect of experience and gender on the results...

The group of rare metabolic defects termed urea cycle disorders (UCDs) occur within the ammonia elimination pathway and lead to significant neurocognitive sequelae for patients surviving decompensation episodes. Besides orthotopic liver transplantation, curative options are lacking for UCDs, with dietary management being the gold clinical standard. Novel therapeutic approaches are essential for UCDs; however, such effort presupposes preclinical testing in cellular models that effectively capture disease manifestation...

BACKGROUND: Cadmium (Cd) and lead (Pb) exhibit nephrotoxic activity and may accelerate kidney disease complications in diabetic patients, but studies investigating the relation to diabetic kidney disease (DKD) have been limited. We aimed to examine the associations of Cd and Pb with DKD in diabetic patients. METHODS: 3763 adults with blood metal measurements and 1604 adults with urinary ones who were diabetic from National Health and Nutrition Examination Survey (NHANES) 2007-2016 were involved...

INTRODUCTION: Early risk stratification for clinical dementia could lead to preventive therapies. We identified and validated a magnetic resonance imaging (MRI) signature for Alzheimer's disease (AD) and related dementias (ARDR). METHODS: An MRI ADRD signature was derived from cortical thickness maps in Framingham Heart Study (FHS) participants with AD dementia and matched controls. The signature was related to the risk of ADRD and cognitive function in FHS. Results were replicated in the University of California Davis Alzheimer's Disease Research Center (UCD-ADRC) cohort...

INTRODUCTION: This meta-analysis aimed to analyze the effect of cadmium (Cd) exposure on thyroid hormone disruption. CONTENT: Databases including PubMed, Embase, Cochrane Library, and Scopus were searched for studies published up to December 14, 2022. Studies evaluating the association between Cd exposure (blood Cd [BCd] or urine Cd [UCd]) and thyroid function (thyroid-stimulating hormone [TSH], free thyroxine [FT4], total triiodothyronine [TT3]) or thyroid autoimmunity (thyroglobulin antibody [TgAb] or thyroperoxidase Ab [TPOAb]) were included...

Udder cleft dermatitis (UCD) is a skin condition affecting the anterior parts of the udder in dairy cattle. In the present study, we aimed to shed light on the microbiota in severe UCD lesions versus healthy udder skin by putting forward a taxonomic and functional profile based on a virulence factor analysis. Through shotgun metagenomic sequencing, we found a high proportion of bacteria besides a low abundance of archaea. A distinct clustering of healthy udder skin versus UCD lesion samples was shown by applying principal component analysis and (sparse) partial least squares ((s)PLS) analysis on the metagenomic data...

Despite improvements in access to water and sanitation services globally, a significant population in Sub Saharan Africa has limited access to improved sanitation facilities. Furthermore, there is lack of a centralized digital platform for data exchange among stakeholders for sanitation services planning and provision in Uganda. A user centered design (UCD) approach was used to develop and pilot a one stop sanitation digital solutions (SaniDigS) center in Kawempe division, Kampala, Uganda. This involved three phases (1) understanding the sanitation status of the community which involved interviewing 1,844 household heads, (2) specifying the user needs of the proposed digital solution through stakeholder meetings and (3) Co designing of the innovations with potential users through stakeholder workshops...

BACKGROUND: Studies demonstrated the associations of cadmium (Cd) with lipid levels and dyslipidemia risk, but the mechanisms involved need further exploration. OBJECTIVES: We aimed to explore the role of DNA methylation (DNAM) in the relationship of Cd with lipid levels and dyslipidemia risk. METHODS: Urinary cadmium levels (UCd) were measured by inductively coupled plasma mass spectrometry, serum high-density lipoprotein (HDL), total cholesterol, triglyceride, and low-density lipoprotein were measured with kits, and DNAM was measured using the Infinium MethylationEPIC BeadChip...

BACKGROUND: The advent of eHealth services offers the potential to support colorectal cancer (CRC) survivors and their informal caregivers (ICs), yet research into user needs and design requirements remains scant. This exploratory qualitative study addresses this knowledge gap by focusing on the development of a Digital Multicomponent Platform (DMP) designed to provide comprehensive support to these populations. AIMS: The objective of this research is to use qualitative methodologies to identify key user needs and design requirements for eHealth services...

BACKGROUND: Determination of horse breeds predisposed to congenital and juvenile cataracts will enable investigations into potential genetic mechanisms for cataracts in horses. OBJECTIVE: To investigate horse breed predispositions to congenital and juvenile cataracts in two academic referral populations. STUDY DESIGN: Retrospective case series. METHODS: Medical record identification of horses diagnosed with congenital or juvenile cataracts at the Cornell University Equine Hospital (2000-2022) and the University of California-Davis (UCD) Large Animal Clinic (1990-2021)...

Understanding the biomechanical behavior of the intervertebral disc is crucial for studying disease mechanisms and developing tissue engineering strategies for managing disc degeneration. We used synchrotron small-angle X-ray scattering to investigate how changes to collagen behavior contribute to alterations in the disc's ability to resist compression. Coccygeal motion segments from 6-month-old lean Sprague-Dawley rats ( <mml:math xmlns:mml="https://www.w3.org/1998/Math/MathML"><mml:mi>n</mml:mi><mml:mo>=</mml:mo><mml:mn>7</mml:mn></mml:math>) and diabetic obese University of California Davis type 2 diabetes mellitus (UCD-T2DM) rats ( <mml:math xmlns:mml="https://www...

Hyperammonemia is a rare and often fatal complication following the conditioning therapy in autologous and allogeneic stem cell transplant recipients. It is characterized by anorexia, vomiting, lethargy and coma without any other apparent cause. The diagnosis is often delayed because symptoms can be subtle and ammonia is usually not included among the routine analyzes. Previous reports have not identified the molecular mechanisms behind hyperammonemia in stem cell transplant recipients. Urea cycle disorders (UCDs) are inborn errors of metabolism leading to hyperammonemia that usually presents in early childhood, whereas first presentation in adults is less common...

An increasing number of women with urea cycle disorders (UCDs) are reaching child-bearing age and becoming pregnant. Improved diagnostics and increased awareness of inherited metabolic diseases has also led to more previously undetected women being diagnosed with a UCD during or shortly after pregnancy. Pregnancy increases the risk of acute metabolic decompensation with hyperammonemia-which can occur in any trimester, and/or the postpartum period, and may lead to encephalopathy, psychosis, coma, and even death, if not diagnosed promptly and treated appropriately...

PURPOSE: Liver transplantation (LTx) is performed in individuals with urea cycle disorders (UCDs) when medical management insufficiently prevents the occurrence of hyperammonemic events (HAEs). However, there is a paucity of systematic analysis on the effects of LTx on health-related outcome parameters as compared to individuals with comparable severity who are medically managed. METHODS: We investigated the effects of LTx and medical management on validated health-related outcome parameters including the metabolic disease course, linear growth, and neurocognitive outcomes...

BACKGROUND: Urea cycle disorders (UCDs) are a group of rare inborn diseases caused by a deficiency in one of the six enzymes or one of the two transporters involved in the urea cycle. The most common biochemical feature is elevated blood ammonia levels, which can be toxic at high levels, especially to the brain and may manifest as encephalopathy if left untreated. Glycerol phenylbutyrate (GPB) is currently approved for use in the USA and Europe for patients of all ages with UCD who cannot be managed with protein restriction and/or amino acid supplementation alone...

The study aimed to analyze the mortality and leading causes of death associated with Sjögren's syndrome (SS) in the United States (US) between 1999 and 2020 using a multicause approach. We analyzed mortality based on SS as the cause-of-death. Using mortality rates, number of deaths, and historical trends, we examined sex, age of death, comparisons of SS- and polymyalgia rheumatica-related deaths (multiple cause-of-death) in the last 20 years, changes in the ranking of causes of death when SS was the underlying cause-of-death (UCD) in the first and last 5 years of the last 20 years, and the number of deaths and standardized mortality (per 100,000 people) when SS combined with interstitial lung disease (ILD) or tumor was the multiple cause-of-death...