Maple Syrup Urine Disease (MSUD) is a rare, autosomal recessive metabolic disorder in which the body is unable to process certain amino acids properly. It causes brain damage and progressive nervous system degeneration. MSUD is caused by mutations in three different genes: BCKDHA, BCKDHB and DBT (Warrell, Cox and Firth, 2012). The BCKDHA gene causes MSUD Type Ia due to the mutation in the E1α subunit, BCKDHB causes Type Ib due to the mutation in the E1ᵦ subunit, and DBT causes Type II due to…
This accumulation may lead to bacterial growth, reduced oxygen and retention of carbon dioxide which can lead to hypoxia and acidosis. The gastrointestinal system is affected when the pancreatic ducts are blocked by thick secretions. Consequently, the pancreatic enzymes do not reach the duodenum. If this enzymes are not present in the digestive tract there is an impairment of…
can seen in a chest x-ray (Kuhajda et al., 2014). The compromised blood flow reduces preload leading to decreased cardiac output. As vasoconstriction increases due to increased pulmonary vascular resistance hypoxia occurs and eventually respiratory acidosis and is monitored through arterial blood gases (Kuhajda et al., 2014). Upon examination patient appears to be in respiratory distress - gasping for air and tracheal deviation as the lung space has decreased and pressures continue to rise, neck…
damage to various organ systems in the body. Symptoms include loss of motor control and muscle coordination, weakness, gastro-intestinal disorders, poor growth, cardiovascular and liver disease, diabetes, respiratory complications, seizures, lactic acidosis, vision/hearing loss, increased risk of infection and learning disabilities. It can be treated by vitamin therapy, energy conservation or pacing activities, maintenance of surrounding temperature, avoidance of exposure to illness, and…
–also called anuric phase- happens when the level of blood urea nitrogen (BUN) and creatinine are increased. Moreover, oliguric phase decreases the amount of urine to less than 400 ml/day. Also, oliguric phase affects the electrolyte disturbance, acidosis, and fluid overload which lead to lose the capacity of the kidneys to excrete water. In this phase, uremic symptoms first appear and life-threating conditions develop. This phase can continue for eight to fourteen days or longer, and the…
As demonstrated by Duff, Gardiner and Barnes (2007), the assessment of respiratory rate serves various functions like being an early marker of acidosis. Respiratory assessment is also one of the most significant indicators of critical illness (Ansell, Meyer & Thompson, 2014; Philip, Richardson & Cohen, 2013). For instance, as noted by Ansell, Meyer and Thompson (2014), an increase in the patient’s…
Respiratory distress syndrome (RDS) commonly known as hyaline membrane syndrome occurs in many premature births. As the gestational age for a baby decreases subsequently the likelihood of them having this condition will increase because their lungs are severely underdeveloped. The problems that stem from RDS include lack of surfactant, smaller alveolar surface span, elevated compliance of the small airways, and occasionally the ductus arteriosis might be a factor if it doesn’t close shortly…
1. What clinical findings are likely in R.S. as a consequence of his COPD? R.S., the patient, has many diagnoses, findings like his history of coronary artery disease, peripheral arterial vascular disease, irregular ABG, chronic bronchitis- COPD, and of course that leads to the possible diagnosis of pneumonia. Therefore, this leads to a very long list of signs and symptoms. The signs and symptoms of COPD type B, which is classified as a “blue bloater” (Copstead, & Banasik, 2010, pg. 483), is…
long-action (Haveles, 2011, 256). Dental cautions related to an increase or sudden decrease of insulin can include epinephrine, glucocorticoids, or opioids (Haveles, 2011, 254). General anesthetics should be used with caution due to an increase risk of acidosis (Haveles, 2011, 254). Pharmacological agents for DM include biguanides, sulfonylureas, meglitinides, thiazolidinediones, alpha-glucosidase inhibitors, and dipeptidyl-peptidase 4 inhibitors (Darby, 2015, 831). Biguanides, is the most…
Introduction Shirley Temple is a 75-year-old lady who has presented to her local emergency department complaining of an increased need to urinate as well as pain and burning when urinating. Her husband John has accompanied her, and is concerned as he believes Shirley is “just not herself” and slightly confused. It is assumed that Shirley is suffering from a urinary tract infection and possible Sepsis, warranting further investigation and management. This case study will outline what constitutes…