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Fanconi Anemia
Fanconi anemia (FA) is a rare, autosomal recessive genetic disease characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and liver cancer. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homolog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lethal Allele
Lethal alleles (also referred to as lethal or lethals) are alleles that cause the death of the organism that carries them. They are usually a result of mutations in genes that are essential for growth or development. Lethal alleles can be recessive, dominant, conditional, perinatal, or postnatal after an extended period of apparently normal development depending on the gene or genes involved. Lethal alleles may specifically refer to embryonically lethal alleles, in which the fetus will never survive to term. Such alleles are a cause of non- Mendelian patterns of inheritance, such as the observation of traits in a 2:1 ratio. History Lethal alleles were first discovered by Lucien Cuénot in 1905 while studying the inheritance of coat colour in mice. The ''agouti'' gene in mice is largely responsible for determining coat colour. The wild-type allele produces a blend of yellow and black pigmentation in each hair of the mouse. This yellow and black blend may be referred to as 'ago ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thrombocytopenia
In hematology, thrombocytopenia is a condition characterized by abnormally low levels of platelets (also known as thrombocytes) in the blood. Low levels of platelets in turn may lead to prolonged or excessive bleeding. It is the most common coagulation disorder among intensive care units, intensive care patients and is seen in a fifth of medical patients and a third of surgical patients. A normal human platelet count ranges from 150,000 to 450,000 platelets/microliter (μL) of blood. Values outside this range do not necessarily indicate disease. One common definition of thrombocytopenia requiring emergency treatment is a platelet count below 50,000/μL. Thrombocytopenia can be contrasted with the conditions associated with an abnormally ''high'' level of platelets in the blood – thrombocythemia (when the cause is unknown), and thrombocytosis (when the cause is known). Signs and symptoms Thrombocytopenia usually asymptomatic, has no symptoms and is picked up on a routine comp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fatigue (medical)
Fatigue is a state of tiredness (which is not sleepiness), exhaustion or loss of energy. It is a symptom of any of various diseases; it is not a disease in itself. Fatigue (in the medical sense) is sometimes associated with medical conditions including autoimmune disease, organ failure, chronic pain conditions, mood disorders, heart disease, infectious diseases, and post-infectious-disease states. However, fatigue is complex and in up to a third of primary care cases no medical or psychiatric diagnosis is found. Fatigue (in the general usage sense of normal tiredness) often follows prolonged physical or mental activity. Physical fatigue results from muscle fatigue brought about by intense physical activity. Mental fatigue results from prolonged periods of cognitive activity which impairs cognitive ability, can manifest as sleepiness, lethargy, or directed attention fatigue, and can also impair physical performance. Definition Fatigue in a medical context is used to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pallor
Pallor is a pale color of the skin that can be caused by illness, emotional shock or stress, stimulant use, or anemia, and is the result of a reduced amount of oxyhaemoglobin and may also be visible as pallor of the conjunctivae of the eyes on physical examination. Pallor is more evident on the face and palms. It can develop suddenly or gradually, depending on the cause. It is not usually clinically significant unless it is accompanied by a general pallor (pale lips, tongue, palms, mouth and other regions with mucous membranes). It is distinguished from similar presentations such as hypopigmentation (lack or loss of skin pigment) or simply a lightly-melanated complexion. Causes * migraine attack or headache * excess estradiol and/or estrone * osteoporosis * emotional response, due to fear, embarrassment, grief, rage * anorexia * anemia, due to blood loss, poor nutrition, or underlying disease such as sickle cell anemia * iron deficiency * vitamin B12 deficien ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Petechia
A petechia (; : petechiae) is a small red or purple spot ( 1 cm in diameter) and purpura (3 to 10 mm in diameter). The term is typically used in the plural (petechiae), since a single petechia is seldom noticed or significant. Causes Physical trauma The most common cause of petechiae is through physical trauma such as a hard bout of coughing, holding breath, vomiting, or crying, which can result in facial petechiae, especially around the eyes. Excessive scratching and friction, especially on thin and poorly circulated parts of the body may also cause petechiae. Such instances are generally considered harmless and usually disappear within a few days, but depending on severity and frequency may be indicative of an underlying medical condition. * Constriction, asphyxiation – petechiae, especially in the eyes, may also occur when excessive pressure is applied to tissue (e.g., when a tourniquet is applied to an extremity or with excessive coughing or vomiting). * Sunburn, childbir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Café Au Lait Spot
''Café au lait'' spots, or ''café au lait'' macules, are flat, hyperpigmented birthmarks. The name ''café au lait'' is French for "coffee with milk" and refers to their light-brown color. They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. These spots are typically permanent and may grow or increase in number over time. Café au lait spots are often harmless but may be associated with syndromes such as neurofibromatosis type 1 and McCune–Albright syndrome. Café au lait lesions with rough borders ("coast of Maine") may be seen in McCune–Albright syndrome. In contrast, café au lait lesions of neurofibromatosis type 1 have smooth borders ("coast of California"). Cause Café au lait spots can arise from diverse and unrelated causes: *Ataxia–telangiectasia * Basal cell nevus syndrome * Benign congenital skin lesion * Bloom syndrome * Chédiak–Higashi syndrome * Congenital melanocytic naevus * Fanconi anemia * Fibrous dyspl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Disorder
Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease. Nephritis and nephrosis can give rise to nephritic syndrome and nephrotic syndrome respectively. Kidney disease usually causes a loss of kidney function to some degree and can result in kidney failure, the complete loss of kidney function. Kidney failure is known as the end-stage of kidney disease, where dialysis or a kidney transplant is the only treatment option. Chronic kidney disease is defined as prolonged kidney abnormalities (functional and/or structural in nature) that last for more than three months. Acute kidney disease is now termed acute kidney injury and is marked by the sudden reduction in kidney function over seven days. Rates for both chronic kidne ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fanconi Syndrome
Fanconi syndrome or Fanconi's syndrome (, ) is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. It results in various small molecules of metabolism being passed into the urine instead of being reabsorbed from the tubular fluid (for example, glucose, amino acids, uric acid, phosphate, and bicarbonate). Fanconi syndrome affects the proximal tubules, namely, the proximal convoluted tubule (PCT), which is the first part of the tubule to process fluid after it is filtered through the glomerulus, and the proximal straight tubule (pars recta), which leads to the descending limb of loop of Henle. Different forms of Fanconi syndrome can affect different functions of the proximal tubule, and result in different complications. The loss of bicarbonate results in type 2 or proximal renal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Guido Fanconi
Guido Fanconi () (1 January 1892 – 10 October 1979) was a Swiss pediatrician. Biography Fanconi was born on 1 January 1892 in Poschiavo, a small village in the Canton of Grisons. Fanconi is regarded as one of the founders of modern pediatrics. He received his secondary school education in Zürich. In 1911, he began his medical training in Lausanne. In 1920, he entered the Kinderspital (Children's Hospital) of the University of Zurich, where, with the exception of one year, he remained for 45 years. Fanconi recognized the importance of biochemistry to clinical medicine. In 1929 he succeeded Emil Feer as professor of pediatrics and head of the Kinderspital. Under his direction, it became one of the most renowned children's hospitals in the world. There are several medical conditions named after Dr. Fanconi. In 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as Fanconi anemia. In 1934 the first cases of cystic fibrosis of the panc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Afrikaners
Afrikaners () are a Southern African ethnic group descended from predominantly Dutch people, Dutch Settler colonialism, settlers who first arrived at the Cape of Good Hope in Free Burghers in the Dutch Cape Colony, 1652.Entry: Cape Colony. ''Encyclopædia Britannica Volume 4 Part 2: Brain to Casting''. Encyclopædia Britannica, Inc. 1933. James Louis Garvin, editor. Until 1994, they dominated South Africa's politics as well as the country's commercial agricultural sector. Afrikaans, a language which evolved from the Hollandic Dutch, Dutch dialect of South Holland, is the First language, mother tongue of Afrikaners and most Cape Coloureds. According to the 2022 South African census, South African National Census of 2022, 10.6% of South Africans claimed to speak Afrikaans as a first language at home, making it the country's third-largest home language after Zulu language, Zulu and Xhosa language, Xhosa. The arrival of Portugal, Portuguese explorer Vasco da Gama at Calicut, In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ashkenazi Jews
Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that emerged in the Holy Roman Empire around the end of the first millennium CE. They traditionally speak Yiddish, a language that originated in the 9th century, and largely migrated towards northern and eastern Europe during the late Middle Ages due to persecution. Hebrew was primarily used as a literary and sacred language until its 20th-century revival as a common language in Israel. Ashkenazim adapted their traditions to Europe and underwent a transformation in their interpretation of Judaism. In the late 18th and 19th centuries, Jews who remained in or returned to historical German lands experienced a cultural reorientation. Under the influence of the Haskalah and the struggle for emancipation, as well as the intellectual and cultural ferment in urban centres, some gradually abandoned Yiddish in favor of German and developed new forms of Jewish relig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
