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Prune Belly Syndrome
Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomen of those with the disorder. Signs and symptoms Prune-belly triad consists of signs such as: Cryptorchidism, abdominal wall defects and genitourinary defects: * A partial or complete lack of abdominal wall muscles. There may be wrinkly folds of skin covering the abdomen. * Cryptorchidism (undescended testicles) in males * Urinary tract abnormality such as unusually large ureters, distended bladder, accumulation and backflow of urine from the bladder to the ureters and the kidneys (vesicoureteral reflux) Other signs include: * Frequent urinary tract infections due to the inability to properly expel urine. * Ventricular septal defect * Malrotation o ...
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Down Syndrome
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often abor ...
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Pneumonia
Pneumonia is an inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. The severity of the condition is variable. Pneumonia is usually caused by infection with viruses or bacteria, and less commonly by other microorganisms. Identifying the responsible pathogen can be difficult. Diagnosis is often based on symptoms and physical examination. Chest X-rays, blood tests, and culture of the sputum may help confirm the diagnosis. The disease may be classified by where it was acquired, such as community- or hospital-acquired or healthcare-associated pneumonia. Risk factors for pneumonia include cystic fibrosis, chronic obstructive pulmonary disease (COPD), sickle cell disease, asthma, diabetes, heart failure, a history of smoking, a poor ability to cough (such as following a stroke), and a weak immune system. Vaccines to ...
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Congenital Disorders Of Musculoskeletal System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ...
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Congenital Disorders Of Urinary System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ...
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Scrotum
The scrotum or scrotal sac is an anatomical male reproductive structure located at the base of the penis that consists of a suspended dual-chambered sac of skin and smooth muscle. It is present in most terrestrial male mammals. The scrotum contains the external spermatic fascia, testes, epididymis, and ductus deferens. It is a distention of the perineum and carries some abdominal tissues into its cavity including the testicular artery, testicular vein, and pampiniform plexus. The perineal raphe is a small, vertical, slightly raised ridge of scrotal skin under which is found the scrotal septum. It appears as a thin longitudinal line that runs front to back over the entire scrotum. In humans and some other mammals the scrotum becomes covered with pubic hair at puberty. The scrotum will usually tighten during penile erection and when exposed to cold temperatures. One testis is typically lower than the other to avoid compression in the event of an impact. The scrotum is biologicall ...
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Orchiopexy
Orchiopexy (or orchidopexy) is a surgery to move and/or permanently fix a testicle into the scrotum. While orchiopexy typically describes the operation to surgically correct an undescended testicle, it is also used to resolve testicular torsion. Indications Undescended testicle Undescended testicles affect 1% of males and are 10% bilateral. The cause is unknown, with a small percentage associated with developmental abnormalities or chromosomal aberrations. Early orchiopexy reduces the risks for cancer and sterility in males with cryptorchidism, or undescended testes. Cryptorchidism is definitively diagnosed after 1 year of age, as testicular descent may occur after birth. Surgical placement into the scrotum is recommended by 18 months to decrease the likelihood of testicular cancer, testicular atrophy, and sterility. Cryptorchidism is associated with tubular atrophy and sterility. In addition, cryptorchid testes carry a three to five times higher risk for testicular cancer (ge ...
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Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Voiding Cystourethrogram
In urology, voiding cystourethrography (VCUG) is a frequently performed technique for visualizing a person's urethra and urinary bladder while the person urinates (voids). It is used in the diagnosis of vesicoureteral reflux (kidney reflux), among other disorders. The technique consists of catheterizing the person in order to fill the bladder with a radiocontrast agent, typically diatrizoic acid. Under fluoroscopy (real time x-rays) the radiologist watches the contrast enter the bladder and looks at the anatomy of the patient. If the contrast moves into the ureters and back into the kidneys, the radiologist makes the diagnosis of vesicoureteral reflux, and gives the degree of severity a score. The exam ends when the person voids while the radiologist is watching under fluoroscopy. Consumption of fluid promotes excretion of contrast media after the procedure. It is important to watch the contrast during voiding, because this is when the bladder has the most pressure, and it ...
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Medical Ultrasonography
Medical ultrasound includes diagnostic techniques (mainly medical imaging, imaging techniques) 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. Its aim is usually to find a source of disease or to exclude pathology. The usage of ultrasound to produce visual images for medicine is called medical ultrasonography or simply sonography. The practice of examining pregnant women using ultrasound is called obstetric ultrasonography, and was an early development of clinical ultrasonography. Ultrasound is composed of sound waves with frequency, frequencies which are significantly higher than the range of human hearing (>20,000 Hz). Ultrasonic images, also known as sonograms, are created by se ...
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Kidney Failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, high blood potassium, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anemia. Causes of acute kidney failure include low blood pressure, blockage of the urinary tract, certain medications, muscle breakdown, and hemolytic uremic syndrome. Causes of chronic kidney failure include diabetes, high blood pressure, nephrotic syndrome, and polycystic kidney disease. Diagnosis of acute failure ...
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Lung
The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of the heart. Their function in the respiratory system is to extract oxygen from the air and transfer it into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere, in a process of gas exchange. Respiration is driven by different muscular systems in different species. Mammals, reptiles and birds use their different muscles to support and foster breathing. In earlier tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the main muscle of respiration that drives breathing is the diaphragm. The lungs also provide airflow that makes vocal sounds including human speech possible. Humans have two lungs, one on the left and on ...
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