Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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It is done through isolation of a bacteria from chickens suspected to have history of coryza and clinical finds from infected chickens also is used in the disease diagnosis. Polymerase chain reaction is a reliable means of diagnosis of the disease
Prevention is through use of Stock coryza-free birds. In other areas culling of the whole flock is a good means of the disease control. Bacterin also is used at a dose of two to reduce brutality of the disease. Precise exposure has also has been used but it should be done with care. Vaccination of the chicks is done in areas with high disease occurrence. Treatment is done by using antibiotics such as erythromycin, Dihydrostreptomycin, Streptomycin sulphonamides, tylosin and Flouroquinolones .
At present this can only be made definitively by liver biopsy or post mortem examination. Given the isolation of a causative virus it should soon be possible to diagnose this by serology, polymerase chain reaction or viral culture. On necropsy, the liver will be small, flaccid, and "dish-rag" in appearance. It has a mottled and bile stained surface. On microscopy there is marked centrilobular to midzonal hepatocellular necrosis and a mild to moderate mononuclear infiltrate. Mild to moderate bile duct proliferation may also be present. On radiology, the liver may be shrunken and difficult to visualize on ultrasound. Ascites may be present.
The most characteristic feature are elevated levels of gamma glutamyl transferase (100–300 IU/L), aspartate transaminase (>1000 IU/L) and sorbitol dehydrogenase, with AST levels > 4000 IU/L indicating a poor prognosis. High levels of unconjugated and total bilirubin, and serum bile acids, can be seen. Moderate to severe acidosis, leukocytosis, polycythaemia, increased creatine kinase and hyperammonemia may be present, and hemolysis can occur at the end stage. The prothrombin time (PT) and partial thromboplastin time (PTT) is often prolonged. Subclinical horses may only show elevated liver enzymes without any other clinical signs. Horses are rarely hypoglycemic, but blood glucose monitoring is ideal to indicate which horses may be benefited by glucose treatment.
Both blood and the urine can be tested for the light chains, which may form amyloid deposits, causing disease. However, the diagnosis requires a sample of an affected organ.
Median survival for patients diagnosed with AL amyloidosis was 13 months in the early 1990s, but had improved to c. 40 months a decade later.
There are no methods for preventing the manifestation of the pathology of MSUD in infants with two defective copies of the BCKD gene. However, genetic counselors may consult with couples to screen for the disease via DNA testing. DNA testing is also available to identify the disease in an unborn child in the womb.
Most individuals with SBCADD are identified through newborn screening, where they present with an elevation of a five carbon acylcarnitine species. Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA.
In many cases, MHA requires no treatment. However, in extreme cases, blood platelet transfusions may be necessary
Diagnosis of mitochondrial trifunctional protein deficiency is often confirmed using tandem mass spectrometry. It should be noted that genetic counseling is available for this condition. Additionally the following exams are available:
- Urine test
Franklin's disease (gamma heavy chain disease)
It is a very rare B-cell lymphoplasma cell proliferative disorder which may be associated with autoimmune diseases and infection is a common characteristic of the disease. It is characterized by lymphadenopathy, fever, anemia, malaise, hepatosplenomegaly, and weakness. The most distinctive symptom is palatal edema, caused by nodal involvement of Waldeyer's ring.
Diagnosis is made by the demonstration of an anomalous serum M component that reacts with anti-IgG but not anti-light chain reagents. Bone marrow examination is usually nondiagnostic.
Patients usually have a rapid downhill course and die of infection if left untreated or misdiagnosed.
Patients with Franklin disease usually have a history of progressive weakness, fatigue, intermittent fever, night sweats and weight loss and may present with lymphadenopathy (62%), splenomegaly (52%) or hepatomegaly (37%). The fever is considered secondary to impaired cellular and humoral immunity, and thus recurrent infections are the common clinical presentation in Franklin disease. Weng et al. described the first case of Penicillium sp. infection in a patient with Franklin disease and emphasized the importance of proper preparation for biopsy, complete hematologic investigation, culture preparation and early antifungal coverage to improve the outcome.
The γHCD can be divided into three categories based on the various clinical and pathological features. These categories are disseminated lymphoproliferative disease, localized proliferative disease and no apparent proliferative disease.
- Disseminated lymphoproliferative disease is found in 57-66% of patients diagnosed with γHCD. Lymphadenopathy and constitutional symptoms are the usual features.
- Localized proliferative disease is found in approximately 25% of γHCD patients. This is characterized by a localization of the mutated heavy chains in extramedullary tissue, or solely in the bone marrow.
- No apparent proliferative disease is seen in 9-17% of patients with γHCD, and there is almost always an underlying autoimmune disorder.
The IgM type of heavy chain disease, μHCD, is often misdiagnosed as chronic lymphoid leukemia (CLL) because the two diseases are often associated with each other and show similar symptoms.
The clinical presentation of ALD can vary greatly, making diagnosis difficult. With the variety of phenotypes, clinical suspicion of ALD can result from a variety of different presentations. Symptoms vary based on the disease phenotype, and even within families or between twins. When ALD is suspected based on clinical symptoms, the initial testing usually includes plasma very long chain fatty acid (VLCFA) determination using gas chromatography-mass spectrometry. The concentration of unsaturated VLCFA, particularly 26 carbon chains is significantly elevated in males with ALD, even prior to the development of other symptoms. Confirmation of ALD after positive plasma VLCFA determination usually involves molecular genetic analysis of "ABCD1". In females, where plasma VLCFA measurement is not always conclusive (some female carriers will have normal VLCFA in plasma), molecular analysis is preferred, particularly in cases where the mutation in the family is known. Although the clinical phenotype is highly variable among affected males, the elevations of VLCFA are present in all males with an "ABCD1" mutation.
Because the characteristic elevations associated with ALD are present at birth, well before any symptoms are apparent, there have been methods developed in the interests of including it in newborn screening programs. One of the difficulties with ALD as a disease included in universal newborn screening is the difficulty in predicting the eventual phenotype that an individual will express. The accepted treatment for affected boys presenting with the cerebral childhood form of the disease is a bone marrow transplant, a procedure which carries significant risks. However, because most affected males will demonstrate adrenal insufficiency, early discovery and treatment of this symptom could potentially prevent complications and allow these patients to be monitored for other treatment in the future, depending on the progression of their disease.
The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe. It was developed by neuroradiologist Daniel J. Loes MD and is an important tool in assessing disease progression and the effectiveness of therapy.
On 9 May 2014, the UK National Screening Committee (UK NSC) announced its recommendation to screen every newborn baby in the UK for four further genetic disorders as part of its NHS Newborn Blood Spot Screening programme, including maple syrup urine disease.
Newborn screening for maple syrup urine disease involves analyzing the blood of 1–2 day-old newborns through tandem mass spectrometry. The blood concentration of leucine and isoleucine is measured relative to other amino acids to determine if the newborn has a high level of branched-chain amino acids. Once the newborn is 2–3 days old the blood concentration of branched-chain amino acids like leucine is greater than 1000 µmol/L and alternative screening methods are used. Instead, the newborn’s urine is analyzed for levels of branched-chain alpha-hydroxyacids and alpha-ketoacids.
Blood tests usually come back normal in affected individuals, so they do not serve as a reliable means of diagnosis. Blood tests can show low serum ferritin levels. However, this is unreliable as method of diagnosis, as some patients show typical serum ferritin levels even at the latest stages of neuroferritinopathy. Cerebral spinal fluid tests also are typically normal.
Ferritin found in the skin, liver, kidney, and muscle tissues may help in diagnosing neuroferritinopathy. More cytochrome c oxidase-negative fibers are also often found in the muscle biopsies of affected individuals.
Standard of care for treatment of CPT II deficiency commonly involves limitations on prolonged strenuous activity and the following dietary stipulations:
- The medium-chain fatty acid triheptanoin appears to be an effective therapy for adult-onset CPT II deficiency.
- Restriction of lipid intake
- Avoidance of fasting situations
- Dietary modifications including replacement of long-chain with medium-chain triglycerides supplemented with L-carnitine
Prevention measures include avoidance of the irritant through its removal from the workplace or through technical shielding by the use of potent irritants in closed systems or automation, irritant replacement or removal and personal protection of the workers.
In order to better prevent and control occupational disease, most countries revise and update their related laws, most of them greatly increasing the penalties in case of breaches of the occupational disease laws. Occupational disease prevention, in general legally regulated, is part of good supply chain management and enables companies to design and ensure supply chain social compliance schemes as well as monitor their implementation to identify and prevent occupational disease hazards.
In the United States, certain breed clubs are strongly recommending screening for "Leishmania", especially in imported breeding stock from endemic locations. For reasons yet unidentified The Foxhound and Neapolitan Mastiff seem to be predisposed or at higher risk for disease. The Italian Spinone Club of America is also requesting all breeders and owners to submit samples for testing; the club reported 150 Spinone Italiano dogs have tested positive in the United States.
In the United States, the following veterinary colleges and government bodies assist with testing and treatment of "Leishmania"-positive dogs:
- Centers for Disease Control and Prevention on Leishmaniasis in dogs
- Iowa State University Department of Pathology
- North Carolina State University College of Veterinary Medicine
Diagnostic testing includes molecular biology and genetic techniques which provide high accuracy and high sensitivity/specificity. The most commonly employed methods in medical laboratories include Enzyme-Linked Immunosorbent Assays, aka ELISA (among other serological assays) and DNA amplification via Polymerase Chain Reaction (PCR).
The Polymerase Chain Reaction(PCR) method for detecting "Leishmania" DNA is a highly sensitive and specific test, producing accurate results in a relatively short amount of time.
A study completed in which Foxhounds were tested using PCR showed that approximately 20% of the tested dogs were positive for leishmaniasis; the same population tested with serological/antibody assays showed only 5% positive.
Diagnosis can be complicated by false positives caused by the leptospirosis vaccine and false negatives caused by testing methods lacking sufficient sensitivity.
Genetic testing can confirm a neuroferritinopathy diagnosis. A diagnosis can be made by analyzing the protein sequences of affected individuals and comparing them to known neuroferritinopathy sequences.
The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following:
- Newborn screening test
- Genetic testing
- Urine test
Occupational lung diseases include asbestosis among asbestos miners and those who work with friable asbestos insulation, as well as black lung (coalworker's pneumoconiosis) among coal miners, silicosis among miners and quarrying and tunnel operators and byssinosis among workers in parts of the cotton textile industry.
Occupational asthma has a vast number of occupations at risk.
Bad indoor air quality may predispose for diseases in the lungs as well as in other parts of the body.
Histopathology. The skin shows hyperkeratosis, hyper-granulosis, and acanthosis. Pathognomonic findings occur in the basal and suprabasal cells of the epidermis, which demonstrate variably sized vacuoles that contain lipid accumulations
In addition to genetic tests involving "PEX" genes, biochemical tests have proven highly effective for the diagnosis of infantile Refsum disease and other peroxisomal disorders. Typically, IRD patients show elevated very long chain fatty acids in their blood plasma. Cultured primarily skin fibroblasts obtained from patients show elevated very long chain fatty acids, impaired very long chain fatty acid beta-oxidation, phytanic acid alpha-oxidation, pristanic acid alpha-oxidation, and plasmalogen biosynthesis.
The median time to progression to end stage renal disease is 2.7 years. After 5 years, about 37% of patients with LCDD are alive and do not have end stage renal disease.
Management for mitochondrial trifunctional protein deficiency entails the following:
- Avoiding factors that might precipitate condition
- Low fat/high carbohydrate nutrition