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Intestinal Atresia
Intestinal atresia is any congenital malformation of the structure of the intestine that causes bowel obstruction. The malformation can be a narrowing (stenosis), absence or malrotation of a portion of the intestine. These defects can either occur in the small or large intestine. Symptoms and signs The most prominent symptom of intestinal atresia is bilious vomiting soon after birth. This is most common in jejunal atresia. Other features include abdominal distension and failure to pass meconium. The distension is more generalised the further down the bowel the atresia is located and is thus most prominent with ileal atresia. Inability to pass stool is most common with duodenal or jejunal atresia; if stool is passed, it may be small, mucus-like and grey. Occasionally, there may be jaundice, which is most common in jejunal atresia. Abdominal tenderness or an abdominal mass are not generally seen as symptoms of intestinal atresia. Rather, abdominal tenderness is a symptom of the ...
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Radiograph
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical ("diagnostic" radiography and "therapeutic radiography") and industrial radiography. Similar techniques are used in airport security, (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and it is projected towards the object. A certain amount of the X-rays or other radiation are absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two-dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning), an X-ray source and its associated de ...
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Polyhydramnios
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly. The opposite to polyhydramnios is oligohydramnios, not enough amniotic fluid. Presentation Associated conditions Fetuses with polyhydramnios are at risk for a number of other problems including cord prolapse, placental abruption, premature birth and perinatal death. At delivery the baby should be checked for congenital abnormalities. Causes In most cases, the exact cause cannot be identified. A single case may have one or more causes, including intrauterine infection (TORCH), rh-isoimmunisation, or chorioangioma of the placenta. In a multiple gestation pregna ...
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Medical Ultrasonography
Medical ultrasound includes Medical diagnosis, diagnostic techniques (mainly medical imaging, imaging) using ultrasound, as well as therapeutic ultrasound, therapeutic applications of ultrasound. In diagnosis, it is used to create an image of internal body structures such as tendons, muscles, joints, blood vessels, and internal organs, to measure some characteristics (e.g., distances and velocities) or to generate an informative audible sound. The usage of ultrasound to produce visual images for medicine is called medical ultrasonography or simply sonography, or echography. The practice of examining pregnant women using ultrasound is called obstetric ultrasonography, and was an early development of clinical ultrasonography. The machine used is called an ultrasound machine, a sonograph or an echograph. The visual image formed using this technique is called an ultrasonogram, a sonogram or an echogram. Ultrasound is composed of sound waves with frequency, frequencies greater than ...
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Low Birth Weight
Low birth weight (LBW) is defined by the World Health Organization as a birth weight of an infant of or less, regardless of gestational age. Infants born with LBW have added health risks which require close management, often in a neonatal intensive care unit (NICU). They are also at increased risk for long-term health conditions which require follow-up over time. Classification Birth weight may be classified as: * High birth weight (macrosomia): greater than * Normal weight (term delivery): * Low birth weight: less than ** Very low birth weight (VLBW): less than ** Extremely low birth weight: less than Causes LBW is either caused by preterm birth (that is, a low gestational age at birth, commonly defined as younger than 37 weeks of gestation) or the infant being small for gestational age (that is, a slow prenatal growth rate), or a combination of both. In general, risk factors in the mother that may contribute to low birth weight include young ages, multiple pregnancie ...
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Preterm Birth
Preterm birth, also known as premature birth, is the Childbirth, birth of a baby at fewer than 37 weeks Gestational age (obstetrics), 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 34 weeks, Late preterm infant, 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 Visual impairment, vision. The earlier a baby is born, the greater these risks will be. The cause of spontaneous preterm birth is often not known. R ...
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Chromosome 2
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells. Chromosome 2 contains the HOXD homeobox gene cluster. Fusion Humans have only twenty-three pairs of chromosomes, while all other extant members of Hominidae have twenty-four pairs. It is believed that Neanderthals and Denisovans had twenty-three pairs. Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes
by Alec MacAndrew; accessed 18 May 2006.
The ev ...
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TTC7A
Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the ''TTC7A'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... Function TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins. Clinical significance TTC7A deficiency disrupts epithelial cell differentiation and polarization in the intestinal tract, thymus, and lungs. TTC7A deficiency is very rare with less than 80 cases described in the literature to date. Mutations in this gene are known to cause intestinal atresia, severe infantile or very early onset inflammatory bowel disease, extensive enteropathy, combined ...
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Familial Multiple Intestinal Atresia
Familial multiple intestinal atresia (FMIA) or familial intestinal polyatresia syndrome (FIPA) is an inherited disorder where atresia occurs at multiple locations throughout the small and large intestines. It presents at birth and the prognosis is very poor with almost all those diagnosed with this condition dying with one month. It may be associated with combined immunodeficiency. Presentation In this disorder lesions can occur anywhere from the stomach to the anus. The clinical presentation depends on the location of the lesions(s). Genetics The underlying lesion in this condition appears to be a mutation in the TTC7A gene.Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue, M-A, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresi ...
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Artery
An artery () is a blood vessel in humans and most other animals that takes oxygenated blood away from the heart in the systemic circulation to one or more parts of the body. Exceptions that carry deoxygenated blood are the pulmonary arteries in the pulmonary circulation that carry blood to the lungs for oxygenation, and the umbilical arteries in the fetal circulation that carry deoxygenated blood to the placenta. It consists of a multi-layered artery wall wrapped into a tube-shaped channel. Arteries contrast with veins, which carry deoxygenated blood back towards the heart; or in the pulmonary and fetal circulations carry oxygenated blood to the lungs and fetus respectively. Structure The anatomy of arteries can be separated into gross anatomy, at the macroscopic scale, macroscopic level, and histology, microanatomy, which must be studied with a microscope. The arterial system of the human body is divided into systemic circulation, systemic arteries, carrying blood from the ...
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Superior Mesenteric Artery
In human anatomy, the superior mesenteric artery (SMA) is an artery which arises from the anterior surface of the abdominal aorta, just inferior to the origin of the celiac trunk, and supplies blood to the intestine from the lower part of the duodenum through two-thirds of the transverse colon, as well as the pancreas. Structure Origin In the adult, the SMA arises anterior to inferior border of vertebra L1 ( transpyloric plane). It is usually 1 cm lower than the celiac trunk. Course and relations It initially travels in an anterior/inferior direction, passing behind/under the neck of the pancreas and the splenic vein. Located under this portion of the superior mesenteric artery, between it and the aorta, are the following: * left renal vein - travels between the left kidney and the inferior vena cava (can be compressed between the SMA and the abdominal aorta at this location, leading to nutcracker syndrome). * the third part of the duodenum, a segment of the ...
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Lumen (anatomy)
In biology, a lumen (: lumina) is the inside space of a tubular structure, such as an artery or intestine. It comes . It can refer to: *the interior of a vessel, such as the central space in an artery, vein or capillary through which blood flows *the interior of the gastrointestinal tract *the pathways of the bronchi in the lungs *the interior of renal tubules and urinary collecting ducts *the pathways of the female genital tract, starting with a single pathway of the vagina, splitting up in two lumina in the uterus, both of which continue through the fallopian tubes *the fluid-filled cavity forming in the blastocyst during pre-implantation development called the blastocoel In cell biology, lumen is a membrane-defined space that is found inside several organelles, cellular components, or structures, including thylakoid, endoplasmic reticulum, Golgi apparatus, lysosome, mitochondrion, and microtubule. Transluminal procedures ''Transluminal procedures'' are procedures occur ...
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Ischemia
Ischemia or ischaemia is a restriction in blood supply to any tissue, muscle group, or organ of the body, causing a shortage of oxygen that is needed for cellular metabolism (to keep tissue alive). Ischemia is generally caused by problems with blood vessels, with resultant damage to or dysfunction of tissue, i.e., hypoxia and microvascular dysfunction. It also implies local hypoxia in a part of a body resulting from constriction (such as vasoconstriction, thrombosis, or embolism). Ischemia causes not only insufficiency of oxygen but also reduced availability of nutrients and inadequate removal of metabolic wastes. Ischemia can be partial (poor perfusion) or total blockage. The inadequate delivery of oxygenated blood to the organs must be resolved either by treating the cause of the inadequate delivery or reducing the oxygen demand of the system that needs it. For example, patients with myocardial ischemia have a decreased blood flow to the heart and are prescribe ...
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