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HUPRA Syndrome
HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian People, Palestinian origin from the same village in the Jerusalem area. One of the two infants' parents were consanguinity, related. It was later described in a third infant from the same village, whose parents were not related. The acronym stands for Hyperuricemia, Hyperuricemia, Pulmonary hypertension, Pulmonary hypertension, Renal failure, Renal failure in infancy and Alkalosis, Alkalosis. And it's due to mutations in the mitochondrial SARS (gene), SARS enzyme. It is an autosomal recessive disease, that has a prevalence of less than one in a million. One in fifteen of the village's inhabitants were found to carry the genetic mutation. Presentation Those affected were born prematurely, and suffered from feeding disorder, feeding difficulties and developmental delays. They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died. Genetics The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palestinian People
Palestinians ( ar, الفلسطينيون, ; he, פָלַסְטִינִים, ) or Palestinian people ( ar, الشعب الفلسطيني, label=none, ), also referred to as Palestinian Arabs ( ar, الفلسطينيين العرب, label=none, ), are an ethnonational group descending from peoples who have inhabited the region of Palestine over the millennia, and who are today culturally and linguistically Arab. Despite various wars and exoduses, roughly one half of the world's Palestinian population continues to reside in the territory of former British Palestine, now encompassing the West Bank and the Gaza Strip (the Palestinian territories) as well as Israel. In this combined area, , Palestinians constituted 49 percent of all inhabitants, encompassing the entire population of the Gaza Strip (1.865 million), the majority of the population of the West Bank (approximately 2,785,000 versus some 600,000 Israeli settlers, which includes about 200,000 in East Jerusalem), ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Feeding Disorder
A feeding disorder, in infancy or early childhood, is a child's refusal to eat certain food groups, textures, solids or liquids for a period of at least one month, which causes the child to not gain enough weight, grow naturally or cause any developmental delays. Feeding disorders resemble failure to thrive, except that at times in feeding disorder there is no medical or physiological condition that can explain the very small amount of food the children consume or their lack of growth. Some of the times, a previous medical condition that has been resolved is causing the issue. Types Feeding disorder has been divided into six further sub-types: # Feeding disorder of state regulation # Feeding disorder of reciprocity (neglect) # Infantile anorexia # Sensory food aversion # Feeding disorder associated with concurrent medical condition # Post-traumatic feeding disorder Symptoms and signs Children attempting to swallow different food textures often vomit, gag, or choke while eating. At ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial DNA
Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts. Human mitochondrial DNA was the first significant part of the human genome to be sequenced. This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves faster than nuclear genetic markers, it represents a mainstay of phylogenetics and evolutionary biology. It also permits an examination of the relatedness of populations, and so has become important in anthropology and biogeography. Origin Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA being derived ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disease
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of central v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 19
Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome. Genes Number of genes The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein Translation
In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or endoplasmic reticulum synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus. The entire process is called gene expression. In translation, messenger RNA (mRNA) is decoded in a ribosome, outside the nucleus, to produce a specific amino acid chain, or polypeptide. The polypeptide later folds into an active protein and performs its functions in the cell. The ribosome facilitates decoding by inducing the binding of complementary tRNA anticodon sequences to mRNA codons. The tRNAs carry specific amino acids that are chained together into a polypeptide as the mRNA passes through and is "read" by the ribosome. Translation proceeds in three phases: # Initiation: The ribosome assembles around the target mRNA. The first tRNA is attached at the start codon. # Elongation: The last tRNA validated by the small ribosomal subunit (''accommodati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Disease
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. In 2007, about one in eigh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Delays
Specific developmental disorders (SDD) was a classification of disorders characterized by delayed development in one specific area or areas.Ahuja Vyas: ''Textbook of Postgraduate Psychiatry'' (2 Vols.), 2nd ed. 1999 Specific developmental disorders were contrasted to pervasive developmental disorders which were characterized by delays in the development of multiple basic functions including socialization and communication. ICD-10 taxonomy The tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) has four categories of developmental disorders: specific developmental disorders of speech and language, specific developmental disorders of scholastic skills, specific developmental disorder of motor function, and mixed specific developmental disorder. DSM-III taxonomy In the third edition of the ''Diagnostic and Statistical Manual of Mental Disorders'' (DSM-III),Dennis Cantwell & Lorian Baker: ''Developmental Speech and Language D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Born Prematurely
Preterm birth, also known as premature birth, is the birth of a baby at fewer than 37 weeks gestational age, as opposed to full-term delivery at approximately 40 weeks. Extreme preterm is less than 28 weeks, very early preterm birth is between 28 and 32 weeks, early preterm birth occurs between 32 and 36 weeks, late preterm birth is between 34 and 36 weeks' gestation. These babies are also known as premature babies or colloquially preemies (American English) or premmies (Australian English). Symptoms of preterm labor include uterine contractions which occur more often than every ten minutes and/or the leaking of fluid from the vagina before 37 weeks. Premature infants are at greater risk for cerebral palsy, delays in development, hearing problems and problems with their vision. The earlier a baby is born, the greater these risks will be. The cause of spontaneous preterm birth is often not known. Risk factors include diabetes, high blood pressure, multiple gestation (being pregna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jerusalem
Jerusalem (; he, יְרוּשָׁלַיִם ; ar, القُدس ) (combining the Biblical and common usage Arabic names); grc, Ἱερουσαλήμ/Ἰεροσόλυμα, Hierousalḗm/Hierosóluma; hy, Երուսաղեմ, Erusałēm. is a city in Western Asia. Situated on a plateau in the Judaean Mountains between the Mediterranean Sea, Mediterranean and the Dead Sea, it is one of the List of oldest continuously inhabited cities, oldest cities in the world and is considered to be a holy city for the three major Abrahamic religions: Judaism, Christianity, and Islam. Both Israelis and Palestinians claim Jerusalem as their Capital city, capital, as Israel maintains its primary governmental institutions there and the State of Palestine ultimately foresees it as its seat of power. Because of this dispute, Status of Jerusalem, neither claim is widely recognized internationally. Throughout History of Jerusalem, its long history, Jerusalem has been destroyed at least twice, Sie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prevalence
In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number of people found to have the condition with the total number of people studied and is usually expressed as a fraction, a percentage, or the number of cases per 10,000 or 100,000 people. Prevalence is most often used in questionnaire studies. Difference between prevalence and incidence Prevalence is the number of disease cases ''present ''in a particular population at a given time, whereas incidence is the number of new cases that ''develop '' during a specified time period. Prevalence answers "How many people have this disease right now?" or "How many people have had this disease during this time period?". Incidence answers "How many people acquired the disease uring a specified time period". However, mathematically, prevalence is propor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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