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Congenital Disorders Of Urinary System
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or dia ...
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Cleft Lip
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nasal cavity, nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent otitis media, ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during Prenatal development, development. As such, they are a type of congenital deformity, birth defect. The cause is unknown in most cases. Risk factor (epidemiology), Risk factors include Smoking and pregnancy, smoking during pregnancy, Diabetes mellitus and pregnancy, diabetes, obesity, advanced maternal age, an older mother, and certain Drugs in pregnancy, medications ...
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Physical Disability
A physical disability is a limitation on a person's physical functioning, mobility, dexterity or stamina. Other physical disabilities include impairments which limit other facets of daily living, such as respiratory disorders, blindness, epilepsy and sleep disorders. Causes Prenatal disabilities are acquired before birth. These may be due to diseases or substances that the mother has been exposed to during pregnancy, embryonic or fetal developmental accidents or genetic disorders. Perinatal disabilities are acquired between some weeks before to up to four weeks after birth in humans. These can be due to prolonged lack of oxygen or obstruction of the respiratory tract, damage to the brain during birth (due to the early umbilical cord clamping, for example) or the baby being born prematurely. These may also be caused due to genetic disorders or accidents. Post-natal disabilities are gained after birth. They can be due to accidents, injuries, obesity, infection or other illne ...
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Therapy
A therapy or medical treatment is the attempted remediation of a health problem, usually following a medical diagnosis. Both words, ''treatment'' and ''therapy'', are often abbreviated tx, Tx, or Tx. As a rule, each therapy has indications and contraindications. There are many different types of therapy. Not all therapies are effective. Many therapies can produce unwanted adverse effects. ''Treatment'' and ''therapy'' are often synonymous, especially in the usage of health professionals. However, in the context of mental health, the term ''therapy'' may refer specifically to psychotherapy. Semantic field The words ''care'', ''therapy'', ''treatment'', and ''intervention'' overlap in a semantic field, and thus they can be synonymous depending on context. Moving rightward through that order, the connotative level of holism decreases and the level of specificity (to concrete instances) increases. Thus, in health-care contexts (where its senses are always nonc ...
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Prenatal Testing
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tol ...
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Newborn Screening
Newborn screening (NBS) is a public health program of screening (medicine), screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie (microbiologist), Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guth ...
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Gestational Diabetes
Gestational diabetes is a condition in which a woman without diabetes develops hyperglycemia, high blood sugar levels during pregnancy. Gestational diabetes generally results in few symptoms. Obesity increases the rate of pre-eclampsia, cesarean sections, and embryo macrosomia, as well as gestational diabetes. Babies born to individuals with poorly treated gestational diabetes are at increased risk of macrosomia, of having hypoglycemia after birth, and of jaundice. If untreated, diabetes can also result in stillbirth. Long term, children are at higher risk of being overweight and of developing type 2 diabetes. Gestational diabetes can occur during pregnancy because of insulin resistance or reduced production of insulin. Risk factors include being overweight, previously having gestational diabetes, a family history of type 2 diabetes, and having polycystic ovarian syndrome. Diagnosis is by blood tests. For those at normal risk, Screening (medicine), screening is recommended betw ...
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Smoking And Pregnancy
Tobacco smoking during pregnancy causes many detrimental effects on health and reproduction, in addition to the general health effects of tobacco. A number of studies have shown that tobacco use is a significant factor in miscarriages among pregnant smokers, and that it contributes to a number of other threats to the health of the foetus. Because of the associated risks, people are advised not to smoke before, during or after pregnancy. If this is not possible, however, reducing the daily number of cigarettes smoked can minimize the risks for both the mother and child. This is especially true for people in developing countries, where breastfeeding is essential for the child's overall nutritional status. Smoking before pregnancy Women who are pregnant or planning to become pregnant are advised to stop smoking. It is important to examine these effects because smoking before, during and after pregnancy is not an unusual behavior among the general population and can have detrimental ...
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Alcohol Drink
Drinks containing alcohol are typically divided into three classes—beers, wines, and spirits—with alcohol content typically between 3% and 50%. Drinks with less than 0.5% are sometimes considered non-alcoholic. Many societies have a distinct drinking culture, where alcoholic drinks are integrated into parties. Most countries have laws regulating the production, sale, and consumption of alcoholic beverages. Some regulations require the labeling of the percentage alcohol content (as ABV or proof) and the use of a warning label. Some countries ban the consumption of alcoholic drinks, but they are legal in most parts of the world. The temperance movement advocates against the consumption of alcoholic beverages. The global alcoholic drink industry exceeded $1.5 trillion in 2017. Alcohol is one of the most widely used recreational drugs in the world, and about 33% of all humans currently drink alcohol. In 2015, among Americans, 86% of adults had consumed alcohol at som ...
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Folate Deficiency
Folate deficiency, also known as vitamin B9 deficiency, is a low level of folate and derivatives in the body. This may result in megaloblastic anemia in which red blood cells become abnormally large, and folate deficiency anemia is the term given for this medical condition. Signs of folate deficiency are often subtle. Symptoms may include fatigue, heart palpitations, shortness of breath, feeling faint, open sores on the tongue, loss of appetite, changes in the color of the skin or hair, irritability, and behavioral changes. Temporary reversible infertility may occur. Folate deficiency anemia during pregnancy may give rise to the birth of low weight birth premature infants and infants with neural tube defects. Not consuming enough folate can lead to folate deficiency within a few months. Otherwise, causes may include increased needs as with pregnancy, and in those with shortened red blood cell lifespan. Folate deficiency can be secondary to vitamin B12 deficiency or a defect ...
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Vertically Transmitted Infection
A vertically transmitted infection is an infection caused by pathogenic bacteria or viruses that use mother-to-child transmission, that is, transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth. It can occur when the mother has a pre-existing disease or becomes infected during pregnancy. Nutritional deficiencies may exacerbate the risks of perinatal infections. Vertical transmission is important for the mathematical modelling of infectious diseases, especially for diseases of animals with large litter sizes, as it causes a wave of new infectious individuals. Types of infections Bacteria, viruses, and other organisms are able to be passed from mother to child. Several vertically transmitted infections are included in the TORCH complex: # T – toxoplasmosis from '' Toxoplasma gondii'' # O – other infections (see below) # R – rubella # C – cytomegalovirus # H – herpes simplex virus-2 or neonatal herpes simplex Other in ...
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Chromosome Abnormality
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. They can be caused by various environmental factors. The implications of chromosomal abnormalities depend on the ...
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Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ...
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