Patau syndrome is a disorder that occurs due to the appearance of a person’s thirteen chromosome three times (trisomy 13) instead of only twice in the cell. In some cases of the disorder‚ only a select percentage of the cells display the third thirteen chromosome while others contain the average amount of pairs‚ this is known as mosaicism. The extra chromosomal material in the cell can lead to many problems in the developmental stages of the humans life‚ these developmental issues cause severe mental
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Shwachman Diamond Syndrome (SDS) is an inherited condition that affects mainly the bone marrow‚ pancreas‚ and skeletal system of the human body. Bone marrow produces new blood cells; however‚ in a patient with SDS‚ the bone marrow does not make all of the types of white blood cells making the body more vulnerable to infection. The pancreas produces enzymes that help break down and use nutrients from food. SDS results in the pancreas not producing enough of these enzymes‚ which makes it hard to digest
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I.Abstract Guillain-Barre Syndrome (GBS) is an auto-immune disease that is rare but can lead to paralysis of limbs and the diaphragm. Ventilatory failure is commonly seen in patients with progressing diseases. The causes of GBS syndrome is unknown‚ however a few culprits are being studied. The most common explanation for GBS is the demyelination of the peripheral nervous system. Other causes in question include flu vaccinations and certain bacteria such as Campylobacter Jejuni. Patients diagnosed
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Overview Diabetic hyperosmolar syndrome is serious complication that is sometimes experienced by diabetic patients‚ most commonly those with type 2 diabetes. It occurs when the body consistently produces dangerously high blood sugar levels. As a result‚ the body attempts to flush out the excess blood sugar through increased urination. If it is not treated‚ it can become life threatening or even fatal. While the condition often develops in response to an infection or illness‚ it can also be caused
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Tumor Lysis Syndrome by NinjaMom Tumor Lysis Syndrome is a series of metabolic derangements which may begin shortly after the onset of treatment of malignancies. It can lead to any of the following: · hyperphosphatemia · lactic acidosis (metabolic acidosis) · hypocalcemia · hyperuricemia · hyperkalemia · acute renal failure Tumor Lysis Syndrome (TLS): · is caused by the destruction of many rapidly proliferating neoplastic cells · is most commonly associated with
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Restless Legs Syndrome I. History of Disorder Restless legs syndrome is a neurological disorder that has been studied for hundreds of years. The earliest documentation of the syndrome was recorded nearly 400 years ago by Thomas Willis‚ a 17th century English physician who served King Charles II. Willis described cases of people having trouble sleeping because of constant contractions of tendons in the legs. Soreness resulted from these contractions and would hinder sleep for days at a time. The
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Ehlers-Danlos Hypermobility Type: Pathophysiology and Treatment Abstract Ehlers-Danlos syndrome is a degenerative condition caused by the malformation of collagen within the body. Many different types of Ehlers-Danlos syndrome have been linked to different types of collagen malformation in different tissues. Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is the most common type of Ehlers-Danlos syndrome. HT-EDS is mainly characterized by marked joint instability and mild cutaneous involvement
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Accessory navicular syndrome involves an extra piece of either cartilage or bone located on the medial side of the foot‚ on the navicular bone. The accessory navicular articulates with the navicular bone‚ while the navicular bone articulates with numerous bony structures. It articulates posteriorly with the talus‚ anteriorly with the cuneiform bones‚ and laterally with the cuboid bone. The joint associated with accessory navicuar syndrome is the talonavicular joint (Panchbhavi‚ V. K.‚ 2015‚ December
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Student: Eibhlín Ní Mhuircheartaigh ID Number: 59210388 Qualification: M.Sc. Guidance & Counselling Module: ES551: Wellbeing‚ Society and Lifelong Learning Title of Essay/Seminar Paper: Case Study: School struggles of those living with Asperger Syndrome Please indicate the term and academic year this module was studied: Spring 2010 Term: Autumn Spring Summer Academic Year: 2009/2010 Is this a re-submission? Yes No Word length: 2‚735 Date of
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Overview Tourette Syndrome (TS)‚ also named multiple tics-coprolalia syndrome‚ was initially described by Gilles de la Tourette in 1900. It is a “developmentally regulated neurobehavioral disorder characterized by multiform‚ frequently changing motor and phonic tics.” (Brunn‚ Cohen‚ &Leckman‚ 2012) Tics means “involuntary‚ rapid repetitive and stereotyped movements of individual muscle groups.” (Brunn‚ Cohen‚ &Leckman‚ 2012) Although the definite cause of TS is unknown‚ it is well recognized that
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