Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life. Causes Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit a non-working copy of the gene from each parent to be seriously affected. Homocystinuria has several features in common with Marfan syndrome, including joint and eye changes. Symptoms Newborn infants appear healthy. Early symptoms, if present, are not obvious. Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition. Other symptoms include: Chest deformities (pectus carinatum, pectus excavatum) Flush across the cheeks High arches of the feet Intellectual disability Knock knees Long limbs Mental disorders Nearsightedness Spidery fingers (arachnodactyly) Tall, thin build

Genetic surfactant dysfunction disorders are caused by mutations in genes encoding proteins critical for the production and function of pulmonary surfactant. These rare disorders may produce familial or sporadic lung disease, with clinical presentations ranging from neonatal respiratory failure to childhood- or adult-onset interstitial lung disease. An overview of these disorders is presented in the table.. Interstitial lung diseases in children until recently were categorized by their histologic appearance in a manner similar to that used for adult forms of interstitial lung disease (ILD). In children, the lung histopathology findings associated with desquamative interstitial pneumonitis (DIP) are now known to often result from genetic mechanisms that disrupt normal surfactant production and metabolism. By contrast, DIP in adults is considered to represent a distinct type of ILD, which is strongly associated with cigarette smoking and carries a relatively favorable prognosis [1]. These genetic disorders also result in histopathologic patterns other than DIP, including findings of pulmonary alveolar proteinosis and chronic pneumonitis of infancy. An understanding of the pathogenesis of these disorders permits a mechanistic classification as genetic surfactant dysfunction disorders instead of their previous classification based upon histologic appearance.

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7 Active Technology Solutions Pvt.Ltd. is an educational 3D digital content provider for K-12. We also customize the content as per your requirement for companies platform providers colleges etc . 7 Active driving force "The Joy of Happy Learning" -- is what makes difference from other digital content providers. We consider Student needs, Lecturer needs and College needs in designing the 3D & 2D Animated Video Lectures. We are carrying a huge 3D Digital Library ready to use.

Kidney is most essential organ to remove nitrogenous waste materials from the body. Kidney was damaged by several human activities leads to kidney failure. Once it is damaged it cannot perform basic functions. To overcome this problem one of the best method we follows called hemodialysis. Hemodialysis is a process of removing of nitrogenous waste materials and excess fluids from the blood (collecting from arteries) through tubes containing semi permeable linings in the dialyzer and sending purified blood to the patient's body through veins. It covers the process of hemodialysis in step wise manner. Hemodialysis only performs some basic functions not all those which are performed by natural kidney like reabsorption etc..

Atrial flutter is a type of abnormal heart rate, or arrhythmia. It occurs when the upper chambers of your heart beat too fast. When the chambers in the top of your heart (atria) beat faster than the bottom ones (ventricles), it complicates your heart rhythm

Wound | Suturing Techniques

INDICATIONS The Absorb GT1 Bioresorbable Vascular Scaffold (BVS) is a temporary scaffold that will fully resorb over time and is indicated for improving coronary luminal diameter in patients with ischemic heart disease due to de novo native coronary artery lesions (length ≤ 24 mm) with a reference vessel diameter of ≥ 2.5 mm and ≤ 3.75 mm WHAT ARE THE POTENTIAL RISKS AND COMPLICATIONS? Treatment options for CAD have become increasingly common but, as with any invasive procedure, there are potential risk factors and complications. Serious complications do not occur often, and research is ongoing to make these procedures even safer and more effective. The risk of complications from percutaneous treatment methods may be higher for individuals: 75 years of age and older Who are women Who have kidney disease or diabetes Who have serious heart disease Who have had prior cardiac interventions

These are a few common types of benign bone tumors: Osteochondroma is the most common benign bone tumor. ... Giant cell tumor is a benign tumor, typically affecting the leg (malignant types of this tumor are uncommon). Osteoid osteoma is a bone tumor, often occurring in long bones, that occurs commonly in the early 20s.

Human Circulatory System and heart video

all pregnant women be screened for Chlamydia at the first prenatal visit. Women under age 25 and those at increased risk for chlamydia! Infection should have repeat testing in the third trimester. Chlamydia endometritis during pregnancy can lead to chorioamnionitis and premature delivery of the fetus. Untreated infection during pregnancy can also lead to conjunctivitis (ophthalmia neonatorum) and pneumonia in the newborn baby

Fremale to male gender reassignment surgery

Peritoneal dialysis (per-ih-toe-NEE-ul die-AL-uh-sis) is a way to remove waste products from your blood when your kidneys can no longer do the job adequately. A cleansing fluid flows through a tube (catheter) into part of your abdomen and filters waste products from your blood. After a prescribed period of time, the fluid with filtered waste products flows out of your abdomen and is discarded. Peritoneal dialysis differs from hemodialysis, a more commonly used blood-filtering procedure. With peritoneal dialysis, you can give yourself treatments at home, at work or while traveling. Peritoneal dialysis isn't an option for everyone wit

Dysmenorrhea, or chronic menstrual pain, is the most common gynecological pain condition, affecting from 45% to 95% of menstruating women. But because it is commonly considered a normal aspect of the menstrual cycle,

This video demonstrates why ears become clogged and why ear popping helps. The video also explains why ear popping may become difficult resulting in a persistent clogged or muffled ear especially after an ear infection.

Bacterial abscess of the liver is relatively rare; however, it has been described since the time of Hippocrates (400 BCE), with the first published review by Bright appearing in 1936. In 1938, Ochsner's classic review heralded surgical drainage as the definitive therapy; however, despite the more aggressive approach to treatment, the mortality remained at 60-80%.[1] The development of new radiologic techniques, the improvement in microbiologic identification, and the advancement of drainage techniques, as well as improved supportive care, have reduced mortality to 5-30%; yet, the prevalence of liver abscess has remained relatively unchanged. Untreated, this infection remains uniformly fatal. The three major forms of liver abscess, classified by etiology, are as follows: Pyogenic abscess, which is most often polymicrobial, accounts for 80% of hepatic abscess cases in the United States Amebic abscess due to Entamoeba histolytica accounts for 10% of cases [2] Fungal abscess, most often due to Candida species, accounts for fewer than 10% of cases

This video describes, step by step, how to place an external ventricular drain. This is a common neurosurgical procedure used to relieve intracranial pressure.

Can a Vaccine Give Me the Disease It’s Supposed to Protect Me Against?

Lumbar puncture is a common emergency department procedure used to obtain information about the cerebrospinal fluid (CSF) for diagnostic and, less commonly, therapeutic reasons. Please refer to the full article on Lumbar Puncture for more details on the lumbar puncture procedure. Lumbar puncture is typically performed via “blind” surface landmark guidance. The surface landmark technique is reported to be successful in a high percentage of attempted lumbar punctures; however, surface landmark identification of underlying structures has been shown to be accurate only 30% of the time. [1] Unsuccessful identification of proper landmarks often leads to increased difficulty in obtaining CSF, if the procedure is performed, and a higher rate of complications. Few alternatives are available in these cases. If available, fluoroscopic-guided lumbar puncture may be performed. If not, treatment is sometimes initiated empirically without obtaining CSF. Disadvantages of using fluoroscopy include limited availability or necessary transport of the patient outside of the emergency department, inability to directly visualize the spinal canal, and inherent radiation exposure

Inner Workings tells the story of the ceaseless pull of the human heart — even as it works against the very stoic realism of the brain.

U.S. biotech firm Bioquark recently got approval to move forward with its ReAnima Project, in which it will try to reverse brain death in patients on life support

During surgery to repair the hernia, the bulging tissue is pushed back in. Your abdominal wall is strengthened and supported with sutures (stitches), and sometimes mesh. This repair can be done with open or laparoscopic surgery. You and your surgeon can discuss which type of surgery is right for you.