Retrospective evaluation of acid-base imbalances, clinicopathologic alterations, and prognostic factors in hospitalized calves with Eimeria-associated diarrhea.

Introduction: After the neonatal period Eimeriosis is one of the most common causes of large intestinal diarrhea in calves. In contrast to neonatal calves with diarrhea, there are very few reports about the clinicopathological alterations in affected animals, which are mainly based on experimental data. The aim of the present study was therefore to characterize acid-base and related clinicopathologic alterations in calves with Eimeria-associated diarrhea and to identify variables associated with in-hospital mortality.

Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.

This study explores the potential of H-NMR spectroscopy-based metabolic profiling in various biofluids as a diagnostic and predictive modality to assess disease severity in individuals with 5q spinal muscular atrophy. A total of 213 biosamples (urine, plasma, and CSF) from 153 treatment-naïve patients with SMA across five German centers were analyzed using H-NMR spectroscopy. Prediction models were developed using machine learning algorithms which enabled the patients with SMA to be grouped according to disease severity.

Association of results of the glutaraldehyde coagulation test with plasma acute phase protein concentrations and hematologic findings in hospitalized cows.

Introduction: The glutaraldehyde test (GAT) allows for animal-side semi-quantitative estimation of fibrinogen and gamma-globulin concentrations in blood samples of adult cattle and therefore detection of inflammatory disease conditions. However, the test has potential limitations, especially due to the latency period until sufficiently high fibrinogen and/or gamma-globulin concentrations are reached. The aim of the present study was therefore to assess the association between results of GAT with other inflammatory markers including hematologic variables, fibrinogen, plasma haptoglobin and serum amyloid A (SAA) concentrations.

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.

Despite numerous studies in human patients and animal models for phenylketonuria (PKU; OMIM#261600), the pathophysiology of PKU and the underlying causes of brain dysfunction and cognitive problems in PKU patients are not well understood. In this study, lumbar cerebral spinal fluid (CSF) was obtained immediately after blood sampling from early-treated adult PKU patients who had fasted overnight. Metabolite and amino acid concentrations in the CSF of PKU patients were compared with those of non-PKU controls.

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.

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo H-NMR Analysis.

Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur in blood and brain tissues. Research has recently shown that high Phe not only impacts the central nervous system, but also other organ systems (e.

Acid-base imbalances and the association of blood-gas variables, electrolytes, and biochemical analytes with outcome in hospitalized calves undergoing abdominal surgery.

Background: Surgical abdominal emergencies in calves are associated with a guarded prognosis and have the potential for complex metabolic derangements including acid-base imbalances.

Objectives: To perform a comprehensive analysis of acid-base status and to assess the prognostic relevance of preoperative clinicopathologic variables in calves undergoing abdominal surgery.

Animals: Hospital-based study samples of 535 (dataset 1; DS1) and 83 calves (dataset 2; DS2).

Additive prognostic value of preoperative plasma glucose concentrations in calves undergoing abdominal surgery.

Surgical abdominal emergencies in calves are associated with a guarded prognosis, especially if neonates are affected. Because hypoglycemia has been associated with sepsis and endotoxemia, this study aimed to assess the prognostic relevance of preoperative plasma glucose concentrations (GLUC) in calves requiring surgery for an acute abdominal disorder. For this purpose, data from retrospective and prospective case series were analyzed, consisting of 586 and 83 hospitalized calves, respectively.

Ex vivo proton spectroscopy ( H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.

There are about 1500 genetic metabolic diseases. A small number of treatable diseases are diagnosed by newborn screening programs, which are continually being developed. However, most diseases can only be diagnosed based on clinical symptoms or metabolic findings.

Macrophages in dermal disease progression of phospholipase D4-deficient Fleckvieh calves.

A new gene defect in Fleckvieh calves leads to a syndrome with partial phenotype overlap with bovine hereditary zinc deficiency. A mutation in a gene encoding phospholipase D4 (), an endosomal exonuclease, causes the disorder. In mice, PLD4 activity indirectly regulates the Toll-like receptor 9 (TLR9) pathway via degradation of microbial DNA.

A High Plane of Nutrition Is Associated with a Lower Risk for Neonatal Calf Diarrhea on Bavarian Dairy Farms.

In all bovine production systems, neonatal calf diarrhea remains worldwide an important issue of economic losses and animal welfare. The aim of the present study was to identify risk factors for neonatal calf diarrhea as a herd health problem on Bavarian dairy farms. For the purpose of this study, management factors related to calf health were retrospectively compared between 59 dairy farms with calf diarrhea as a herd problem with those of 18 control farms, where no veterinary treatment of calves for neonatal calf diarrhea took place for at least one year prior to the farm visit.

Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation.

Monitoring phenylalanine (Phe) concentrations is critical for the management of phenylketonuria (PKU). This can be done in dried blood spots (DBS) or in EDTA plasma derived from capillary or venous blood. Different techniques are used to measure Phe, the most common being flow-injection analysis tandem mass spectrometry (FIA-MS-MS) and ion exchange chromatography (IEC).

H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.

Background: 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prognosis of possibly already affected newborns with a positive newborn screening result for SMA imprecise and difficult.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data.

This retrospective matched-cohort analysis compared health-economic burdens of adults (≥18 years;  = 377) with phenylketonuria (PKU) and age/gender-matched non-PKU controls ( = 3770) in Germany. Healthcare costs and resource-utilization were analyzed for the year 2015. Differences between groups were tested using 95% CI of mean differences (MD).

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH), although there is no consensus on the definition of BH responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH responsiveness being used around the world.

Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients.

Intravenous and Oral Fluid Therapy in Neonatal Calves With Diarrhea or Sepsis and in Adult Cattle.

Optimal fluid therapy protocols in neonatal calves and adult cattle are based on consideration of signalment, history, and physical examination findings, and individually tailored whenever laboratory analysis is available. Measurement of the magnitude of eye recession, duration of skin tenting in the lateral neck region, and urine specific gravity by refractometry provide the best estimates of hydration status in calves and cattle. Intravenous and oral electrolyte solutions (OES) are frequently administered to critically ill calves and adult cattle.

Dependence of the apparent bicarbonate space on initial plasma bicarbonate concentration and carbon dioxide tension in neonatal calves with diarrhea, acidemia, and metabolic acidosis.

Background: Marked strong ion (metabolic) acidosis in neonatal diarrheic calves usually is corrected by IV administration of NaHCO . The distribution space for IV-administered bicarbonate, called the apparent bicarbonate space (ABS), appears to depend on initial plasma bicarbonate concentration (cHCO ) and varies considerably in calves.

Objective: To determine whether ABS was associated with initial plasma cHCO and other acid-base variables.

Patient's thoughts and expectations about centres of expertise for PKU.

Background: In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE's.

Methods: To identify expectations of patients/caregivers with PKU of CEs, a web-based survey was distributed through the national Phenylketonuria societies of Germany, NL and UK.

Results: In total, 105 responded (43 patients, 56 parents, 4 grandparents, 2 other) of whom 59 were from NL, 33 from UK and 13 from Germany.

Phenylalanine Effects on Brain Function in Adult Phenylketonuria.

Objective: To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria.

Methods: In this prospective cross-sectional study, early-treated patients with phenylketonuria older than 30 years and age- and sex-matched controls were included. Extensive neurologic evaluation, neuropsychological and behavioral testing, sensory and motor evoked potentials, and MRI were performed.

Prognostic utility of pre- and postoperative plasma l-lactate measurements in hospitalized cows with acute abdominal emergencies.

The aim of the present analyses was to compare the prognostic value of pre- and postoperative l-lactate measurements in hospitalized cows requiring surgical intervention for an acute abdominal emergency, such as gastrointestinal ileus or peritonitis. For this purpose, we analyzed data from retro- and prospective case series, consisting of 754 and 98 cows, respectively. Plasma l-lactate concentrations (L-LAC) were determined upon admission to the hospital (both study populations), immediately before initiation of surgical intervention (prospective study population), and 6, 12, 24, 48, and 72 h later (prospective study population).

Correction to: PKU dietary handbook to accompany PKU guidelines.

An amendment to this paper has been published and can be accessed via the original article.