Hirschsprung Disease Research Paper
Emma Jamieson
Introduction
Hirschsprung disease is a congenital digestive condition primarily found in newborns, although older children can be diagnosed with mild cases. Damage to the nerve cells found in between the muscle layers of the walls of the large intestine inhibits the ability to effectively pass stool. The loss of functioning nerve cells prevents peristalsis from moving the stool towards the rectum creating blockages of stool in the large intestine. This results in constipation, bloating, diarrhea, and vomiting, these symptoms if left unchecked can be lethal in infants, and lead to many long term problems in older children. Recorded evidence of Hirschsprung disease dates back to 1691 with
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This action potential signals vesicles containing neurotransmitters to be released into the synaptic cleft, or space between two neurons containing extracellular fluid. Neurotransmitters bind to sites found on ion channels of the adjacent neuron, due to the impermeability of neuron membranes to ions, neurotransmitters are necessary for the movement of action potentials between neurons. The chemical synapse or the transfer of ions between the axon of one neuron to the dendrite of another allows for the chemical signal to be conveyed through a neural network to achieve an end result, such as skeletal movement, sight, and touch. Electrical synapses are also used alongside chemical synapses to transfer the chemical message to the appropriate recipient. These synapses are found between two dendrites, they communicate the changes in charge through gap junctions which allow for the passive diffusion of ions through the neurons connected, this results in a response from all neurons that receive the action potential (Stufflebeam, 2008). The nervous system affected by Hirschsprung’s disease is specifically the enteric nervous system it communicates to the central nervous system through both the parasympathetic and sympathetic systems, which is a denomination of the peripheral system. The peripheral
Type III is known as Klein-Waardenburg syndrome and some of the symptoms are different than type I or type II. Type III is also closely related to type I in the sense that they both have the same inheritance pattern. Type IV is closely related to type II because they have the same inheritance pattern (Calendar 2013). A symptom that only type IV has is Hirschsprung’s disease, a disease that affects the colon and causes constipation (Type two 2013). If Hirschsprung’s is not treated correctly, the result might be death.
As well as these there are also the axon of the cell which is covered in myelin sheaths which carried information away from the cell body and hands the action potentials, these are small short bursts of change in the electrical charge of the axon membrane through openings of ion channels, off to the following neurons dendrites through terminal buttons at the end of the axons. Whenever an action potential is passed through these terminal buttons it releases a chemicals that pass on the action potential on to the next neuron through the terminal button and dendrite connection. The chemicals that are
Describe the process of synaptic transmission. Include in this description the differences between excitatory and inhibitory transmitters.Sypnaptic transmission is the method in which obe nerve cell communicate to another nerve cell .The communication between nerve cells is done by branching or processing the nerve cell singnals that are passed by t have e nerve cell body or "soma", dentristes, and electrical axon or chemical signals
The main components of the synapses are as follows: The Axon terminal, found at the end of the Axon, passes neurotransmitters to other neurons via synaptic transmission. Synaptic Vesicles contain neurotransmitters within the Axon. Neurotransmitters themselves are chemical messengers that travel through the neurons and activate receptors on the receiving cell. The neurotransmitters are diffused through the synaptic cleft—a region between the two neurons and gap the neurotransmitter needs to cross to make it to the receiving cell. Said receiving cell is what receives the neurotransmitters and starts the process over again. The receptors on the cell are structures that receive the neurotransmitters and
Hirsch sprung disease is a disease that shows several Signs and symptoms. Approximately more than 75% of children with Hirsch sprung disease show symptoms in the beginning of six weeks of their lives. Newborns frequently begin showing symptoms with in the earliest 24 to 48 hours of life. the most common signs and symptoms infants may experience during Hirsch sprung disease are as the following: Not having a bowel movement in the first 48 hours of life, gradual swelling of the belly, gradual onset of vomiting, fever, sepsis (overwhelming infection), growth failure, refusal to feed, easily palpable fecal mass, foul smelling stool, constipation or a condition in which there is difficulty in emptying the bowels that usually associated with hardened feces that worsens over time, and Small watery stool( Cincinnati children's hospital,2017)
In a normal and healthy nervous system, many electrical signals are received and sent through neurons. The arrival of those signals at the end of the neuron triggers the release of many chemicals, in specific, neurotransmitters (Brooker, 2011). These chemicals travel into a gap between the presynaptic (end of one neuron) and the beginning of he postsynaptic (next neuron). This gap is named a synapse (Brooker, 2011). Neurotransmitters are then released into the synapse and then bind to the ibid (post -synaptic neuron). When this
Hirschsprungs is a disease that is related to chronic constipation and usually manifests itself in early childhood, especially under the age of one. However, older children can have this disease as well, and some can even be born with this. Even though the younger children can have Hirschsprungs, it is not usually diagnosed until their later years due to the fact that children frequently have constipation and the need for enemas and laxatives when they are younger. Hirschsprungs is usually suspected when the child has had a more frequent need for enemas, and laxatives. A research study was done in order to examine the frequency of Hirschsprungs in the population as well as types of patients who were diagnosed with the disease.
Description- Pyloric stenosis is narrowing of the opening from the stomach to the first part of the small intestine known as the duodenum, due to enlargement of the muscle surrounding the pylorus or "gate" which spasms when the stomach empties. Hypertrophic pyloric stenosis causes a functional gastric outlet obstruction as a result of hypertrophy and hyperplasia of the muscular layers of the pylorus.It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed.
As the message arrives at the end of the nerves, the message is transmitted to the muscles. Before the message is transmitted to the muscles it has to pass the space between the end of the nerve and the muscle, and that space is called neuromuscular junction. The message is transmitted from the brain to the end of the nerve and from the nerve to the neuromuscular junction, and when the message arrives the chemical called neurotransmitters are released.
Occurring once in approximately 5000 live births, Hirschsprung disease is a congenital abnormality characterized by the absence of autonomic parasympathetic ganglion cells in the colon preventing peristalsis and resulting in intestinal obstruction and abdominal distension. Also known as congenital aganglionic megacolon, this medical malady is an unfortunate anomaly of a very vulnerable population – infants and children. Hirschsprung disease can occur in otherwise healthy babies, but is commonly diagnosed in combination with Down’s syndrome and congenital heart defects. Functional outcomes, thanks to contemporary medical advances, are generally successful. As medical professionals, nurses play a significant role in helping patients achieve therapeutic goals. Therapeutic goals also include a level of psychological wellness in living with persistent bowel dysfunction after Hirschsprung surgery but few, if any, studies have addressed this likelihood.
Hirschsprung’s Disease (HD) also known as “aganglionic megacolon”, arises from a congenital malformation of the enteric nervous system in most cases diagnosed after birth (1). While the length of the aganglionic affected segment is varying, 75% of patients suffer aganglionic rectosigmoid (2). This overview will now dwell into pathological and epidemiological data, clearly outlining the normal functionality and anatomy of the large intestines, how it is being affected, its effects on surrounding structures, identifying clinical based studies that clearly establish common interventions and prognosis and identify common complications.
Hirschsprung’s disease was named after Harald Hirschsprung, he was a pediatrician who was the first to describe this condition in 1886. Another word for Hirschsprung’s disease is “aganglionosis” because in every patient has a characteristics of not having ganglion cells in the rectum. For Hirschsprung’s disease (HD) is a disease when the large intestine gets clogged up and does a blockage. Which causes the person to be constipated, with that it make a blockage in the intestines and makes it difficult to release foods, fluids, and even gases out normally. The person usually get the disease when their born, but they are diagnosed with it when their infants. Hirschsprung’s disease occurs in one out of 5,000 births.
There are four suggested etiological groups for GI malrotation: (i) abnormal L-R patterning, (ii) dorsal mesentery (FOXF1) anomalies, (iii) irregularities of the intestine itself and (iv) abnormalities of other abdominal contents. Irregularities of the intestine itself include atresias (closed or missing orifices/passages) and congenital short bowel. The fourth category, has been postulated on the basis of incorrectly placed intestines and/ or abdominal organs within the abdominal cavity during organogenesis, which subsequently lead to GI malrotation.
As soon as the electrical signal reaches the end of the axon, mechanism of chemical alteration initiates. First, calcium ion spurt into the axon terminal, leading to the release of neurotransmitters “molecules released neurons which carries information to the adjacent cell”. Next, inside the axon terminal, neurotransmitter molecules are stored inside a membrane sac called vesicle. Finally, the neurotransmitter molecule is then discharged in synapse space to be delivered to post synaptic neuron.
Two more facts about the sympathetic nervous system are the synapse in the sympathetic ganglion, uses acetylcholine as a neurotransmitter. The synapse of the postganglionic neuron with the target organ uses the neurotransmitter called norepinephrine. There is one exception to this, the sympathetic postganglionic neuron that terminates on the sweat glands uses acetylcholine.