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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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Duarte galactosemia (also known as Duarte variant galactosemia, DG, or biochemical variant galactosemia) is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. Duarte galactosemia (DG) is estimated to affect close to one in 4,000 infants born in the United States. DG Is considered by most healthcare professionals to be clinically mild. It differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete, or almost complete, GALT deficiency.
DG, and the possible outcomes associated with this condition, are currently not well understood. Due to regional variations in newborn screening (NBS) protocols, some infants with DG are identified by NBS but others are not. In addition, of the infants who are diagnosed, most are clinically healthy as babies and toddlers, resulting in early discharge from follow up. Many healthcare professionals believe that DG does not negatively impact development. However, some reports have indicated that children with DG may be at increased risk for some developmental problems.
The clinical signs of milk fever can be divided into three distinct stages:
Stage 1: Cows are mobile but show signs of hypersensitivity and excitability such as restlessness, tremors, ear twitching, head bobbing and mild ataxia. If not treated, symptoms usually progress to stage 2.
Stage 2: Cows can no longer stand and present in sternal recumbency. Tachycardia, weakened heart contraction and peripheral pulses. Cows appear dull, have dry muzzles, cold extremities and a lower than normal body temperature. Smooth muscle paralysis can cause bloat, and the inability to urinate or defecate. Cows often tuck their heads into their flanks.
Stage 3: Lateral recumbency, muscle flaccidity, unresponsiveness to stimuli, and loss of consciousness progressing to coma. Heart rate can approach 120 bpm, with peripheral pulses becoming undetectable. If untreated, progression will continue to death.
Bahima Disease is a birth defect caused by iron deficiency in infants which are fed exclusively on cow's milk. It is characterized by a tower-shaped skull, of the diploe, and no signs of thalassaemia, sickle cell or other haemolytic anaemia.
It occurs most frequently in the Bahima people in Ankole, Uganda, from which it derives its name. The Bahima are a tribe that relies heavily on herding of long-horned cattle for survival.
Infants with DG show an impaired ability to metabolize galactose, a sugar found at high levels in breast milk, milk formula, and most dairy products. Galactose is found at low levels in many fruits, vegetables, and other foods. Galactose is also produced at low levels by the human body.
Infants with DG, who consume breast milk or formula containing the milk sugar, lactose, are usually, but not always, asymptomatic. Infants who do show symptoms, such as jaundice, typically recover quickly when switched to a low-lactose diet, such as soy formula.
An early sign in several animals including cattle, sheep, and guinea pigs is listlessness, which is commonly followed by significant loss of weight and pronounced trembling in the legs and muzzle. These signs often appear several hours after ingestion of white snakeroot. Signs of abdominal pain, polydipsia, and vomiting may be noted. As the effects of the poison progress, signs of constipation, appetite loss, weakness, and difficulty standing and/or walking are usually observed. Complete loss of muscle coordination, stupor, and/or coma precede death. Death usually occurs within 2-10 days of symptom onset. Signs unique to cattle and sheep include peculiar odors found in the breath and urine, breathing difficulties, and over-salivation. Symptoms unique to horses include depression, bloody urine, and choking. In addition to increased heart rate and jugular pulse, swelling around the thoracic inlet in also observed. Horses may also stand with their hind legs wide apart. Symptoms unique to guinea pigs include crouching with half-closed eyes and roughening of the hair. Treatment for milk sickness is typically symptom amelioration, as well as administration of laxatives, sodium lactate, glucose, or hypotonic Ringer’s solution.
The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).
A defect in the UGT1A1-gene, also linked to Crigler–Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey–Driscoll syndrome.
The signs and symptoms of allergies in a child are:
- Chronic symptoms resembling the cold that last more than a week or two.
- Cold-like symptoms that appear during the same time each year
- Repeated difficulty breathing, wheezing and breathing
- Cold-like symptoms that happen at night
- Cold-like symptoms that happen during exercise
- Chronic rashes or patches of skin that are dry, itchy, look like scales
- Cold-like symptoms that appear after eating a certain food
- Hives
- Swelling of face, arms or legs
- Gagging, coughing or wheezing, vomiting or significant abdominal pain
- Itching or tingling sensations in the mouth, throat or ears
Breastfeeding and medications is the description of the medications that can be used by a breastfeeding mother with no or few consequences and those medications which are recommended to be avoided. Some medications are excreted in breastmilk. Almost all medicines pass into breastmilk in small amounts. Some have no effect on the baby and can be used while breastfeeding. The National Institutes of Medicine (US) maintains a database containing information on drugs and other chemicals to which breastfeeding mothers may be exposed. It includes information on the levels of such substances in breast milk and infant blood, and the possible adverse effects in the nursing infant. Suggested therapeutic alternatives to those drugs are provided, where appropriate. All data are derived from reliable sources. Some medications and herbal supplements can be of concern. This can be because the drug can accumulate in breastmilk or have effects on the infant and the mother. Those medications of concern are those medications used to treat substance and alcohol addiction. Other medications of concern are those that are used in smoking cessation. Pain medications and antidepressants need evaluation.
Brainerd diarrhea is a sudden-onset watery, explosive diarrhea that lasts for months and does not respond to antibiotics; the cause of Brainerd diarrhea is unknown. Brainerd diarrhea was first described in Brainerd, Minnesota in 1983.
It has been associated with the consumption of raw milk and untreated water. Of the ten outbreaks reported since 1983, nine have been in the U.S. The characteristics of each outbreak have been similar to that caused by an infectious agent. Although a comparatively large outbreak (117 patients) occurred in 1996 in Fannin County, Texas., the largest outbreak (122 patients) was the original one in Brainerd, MN. There have been no secondary cases reported in any of the outbreaks, suggesting that the
causative agent cannot be passed from person to person, but boiling water appears to inactivate the Brainerd agent. Although there is no treatment available, the disease does appear to resolve itself, although this process takes months if not years.
Colic is defined as episodes of crying for more than three hours a day, for more than three days a week for a three-week duration in an otherwise healthy child between the ages of two weeks and four months. By contrast, infants normally cry an average of just over two hours a day, with the duration peaking at six weeks. With colic, periods of crying most commonly happen in the evening and for no obvious reason. Associated symptoms may include legs pulled up to the stomach, a flushed face, clenched hands, and a wrinkled brow. The cry is often high pitched (piercing).
A supernumerary nipple (also known as a third nipple, triple nipple, accessory nipple, polythelia or the related condition: polymastia) is an additional nipple occurring in mammals, including humans. Often mistaken for moles, supernumerary nipples are diagnosed in humans at a rate of approximately 1 in 18 people.
The nipples appear along the two vertical "milk lines," which start in the armpit on each side, run down through the typical nipples and end at the groin. They are classified into eight levels of completeness from a simple patch of hair to a milk-bearing breast in miniature.
"Polythelia" refers to the presence of an additional nipple alone while "polymastia" denotes the much rarer presence of additional mammary glands.
Although usually presenting on the milk line, pseudomamma can appear as far away as the foot.
A possible relationship with mitral valve prolapse has been proposed.
Baby colic, also known as infantile colic, is defined as episodes of crying for more than three hours a day, for more than three days a week, for three weeks in an otherwise healthy child. Often crying occurs in the evening. It typically does not result in long term problems. The crying can cause frustration for the parents, depression following delivery, excess visits to the doctor, and child abuse.
The cause of colic is unknown. Some believe it is due to gastrointestinal discomfort like intestinal cramping. Diagnosis requires ruling out other possible causes. Concerning findings include a fever, poor activity, or a swollen abdomen. Fewer than 5% of infants with excess crying have an underlying organic disease.
Treatment is generally conservative, with little to no role for either medications or alternative therapies. Extra support for the parents may be useful. Tentative evidence supports certain probiotics for the baby and a low-allergen diet by the mother in those who are breastfed. Hydrolyzed formula may be useful in those who are bottlefed.
Colic affects 10–40% of children. It is most common at six weeks of age and typically goes away by six months of age. It rarely lasts up to one year of age. It occurs at the same rate in boys and in girls. The first detailed medical description of the problem occurred in 1954.
The signs of sepsis are non-specific and include:
- Body temperature changes
- Breathing problems
- Diarrhea
- Low blood sugar (hypoglycemia)
- Reduced movements
- Reduced sucking
- Seizures
- Bradycardia
- Swollen belly area
- Vomiting
- Yellow skin and whites of the eyes (jaundice)
A heart rate above 160 can also be an indicator of sepsis, this tachycardia can present up to 24 hours before the onset of other signs.
The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have immunodeficiency diseases, difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management (using biotin supplements) may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.
Digital dermatitis is a disease that causes lameness in cattle. It was first discovered in Italy in 1974 by Cheli and Mortellaro. This disease is caused by a mixture of different bacteria. Anaerobic bacteria, including spirochetes of the genus "Treponema", are found in the lesions associated with the infection. Digital dermatitis is different from foot rot in cattle and both conditions may occur concurrently.
Digital dermatitis primarily affects dairy cattle and has been known to lower the quantity of milk produced, but the quality of the milk is unaffected.
Evidence show that risk factors favouring digital dermatitis outbreaks include: poor hygiene and high humidity; introduction of infected animals; no hoof care for heifers and dry cows; high levels of chronically infected animals; insufficient or inadequate hoof trimming; soft hooves and unbalanced nutrition.
In undiagnosed and untreated children, the accumulation of precursor metabolites due to the deficient activity of galactose 1-phosphate uridylyltransferase (GALT) can lead to feeding problems, failure to thrive, liver damage, bleeding, and infections. The first presenting symptom in an infant is often prolonged jaundice. Without intervention in the form of galactose restriction, infants can develop hyperammonemia and sepsis, possibly leading to shock. The accumulation of galactitol and subsequent osmotic swelling can lead to cataracts which are similar to those seen in galactokinase deficiency. Long-term consequences of continued galactose intake can include developmental delay, developmental verbal dyspraxia, and motor abnormalities. Galactosemic females frequently suffer from ovarian failure, regardless of treatment in the form of galactose restriction.
Premature thelarche is a rare medical condition that is characterized by isolated breast development (thelarche being the onset of breast development) at a very early age with no other signs of sexual maturation. It generally occurs within the first 1 to 4 years of life, with a peak incidence of 2 years of age, and tends to resolve within 1 to 2 years without treatment. The condition never advances beyond Tanner stage III breast development.
Premature thelarche is distinct from neonatal breast hyperplasia (see also witch's milk), which is common in the first few months of life and is due to acute exposure to high levels of sex hormones like estrogen during pregnancy. Premature thelarche is also distinct from precocious puberty, which generally occurs later in childhood and also includes development of other pubertal characteristics.
Treatment with fennel ("Foeniculum vulgare") has been associated with premature thelarche in several case reports. Estradiol levels were found to be elevated by 15–20 times for the ages of the afflicted girls (5 months to 5 years). Also, fennel is known to contain anethole, an estrogenic compound.
Milk fever, postparturient hypocalcemia, or parturient paresis is a disease, primarily in dairy cattle, but also seen in beef cattle, characterized by reduced blood calcium levels (see: Hypocalcemia). It occurs following parturition, at onset of lactation, when demand for calcium for colostrum production exceeds the body's ability to mobilize calcium. "Fever" is a misnomer, as body temperature during the disease is generally not elevated. Milk fever is more commonly seen in older animals (which have reduced ability to mobilize calcium from bone) and in certain breeds (such as Channel Island breeds).
The defining sign of kwashiorkor in a malnourished child is pitting edema (swelling of the ankles and feet). Other signs include a distended abdomen, an enlarged liver with fatty infiltrates, thinning hair, loss of teeth, skin depigmentation and dermatitis. Children with kwashiorkor often develop irritability and anorexia. Generally, the disease can be treated by adding protein to the diet; however, it can have a long-term impact on a child's physical and mental development, and in severe cases may lead to death.
In dry climates, marasmus is the more frequent disease associated with malnutrition. Another malnutrition syndrome includes cachexia, although it is often caused by underlying illnesses. These are important considerations in the treatment of the patients.
Digital dermatitis appears as lesions which initially looks like raw, red, oval ulcer on the back of the heel. These lesions develop raised, hair-like projections or wart-like lesions, and some may extend up between the claws or appear on the front of the foot.
A scoring system was developed to classify the different stages of digital dermatitis, the M-stages system, where "M" stands for Mortellaro. The different stages are described as: M0, healthy skin; M1, early stage, skin defect < 2 cm diameter; M2, acute active ulcerative lesion; M3, healing stage, lesion covered with scab-like material; M4, chronic stage, that may be dyskeratotic (mostly thickened epithelium) or proliferative or both.
Diagnosis is principally based on history and clinical signs. It is very rare that attempts are made to isolate the bacteria.
Galactosemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.
Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.
Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosaemia is about one hundred times more common (1:480 births) within the Irish Traveller population.
Galactose-1-phosphate uridylyltransferase deficiency, also called galactosemia type 1, classic galactosemia or GALT deficiency, is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase. It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas. On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency. Further analysis of metabolites and enzyme activities are needed to identify the specific metabolic error.
Kwashiorkor is a form of severe protein–energy malnutrition characterized by edema, irritability, ulcerating dermatoses, and an enlarged liver with fatty infiltrates. Sufficient calorie intake, but with insufficient protein consumption, distinguishes it from marasmus. Kwashiorkor cases occur in areas of famine or poor food supply. Cases in the developed world are rare.
Jamaican pediatrician Cicely Williams introduced the name into the medical community in a 1935 "Lancet" article, two years after she published the disease's first formal description in the Western medical literature. The name is derived from the Ga language of coastal Ghana, translated as "the sickness the baby gets when the new baby comes" or "the disease of the deposed child", and reflecting the development of the condition in an older child who has been weaned from the breast when a younger sibling comes. Breast milk contains proteins and amino acids vital to a child's growth. In at-risk populations, kwashiorkor may develop after a mother weans her child from breast milk, replacing it with a diet high in carbohydrates, especially sugar.
EoE often presents with difficulty swallowing, food impaction, regurgitation or vomiting, and decreased appetite. In addition, young children with EoE may present with feeding difficulties and poor weight gain. It is more common in males, and affects both adults and children.
Many people with EoE have other autoimmune and allergic diseases such as asthma and celiac disease.