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Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.
Cytoplasmic organelles are "little organs" that are suspended in the cytoplasm of the cell. Each type of organelle has a definite structure and a specific role in the function of the cell. Examples of cytoplasmic organelles are mitochondrion, ribosomes, endoplasmic reticulum, golgi apparatus, and lysosomes.
Pericardiocentesis is the aspiration of fluid from the pericardial space that surrounds the heart. This procedure can be life saving in patients with cardiac tamponade, even when it complicates acute type A aortic dissection and when cardiothoracic surgery is not available. [1] Cardiac tamponade is a time sensitive, life-threatening condition that requires prompt diagnosis and management. Historically, the diagnosis of cardiac tamponade has been based on clinical findings. Claude Beck, a cardiovascular surgeon, described 2 triads of clinical findings that he found associated with acute and chronic cardiac tamponade. The first of these triads consisted of hypotension, an increased venous pressure, and a quiet heart. It has come to be recognized as Beck's triad, a collection of findings most commonly produced by acute intrapericardial hemorrhage. Subsequent studies have shown that these classic findings are observed in only a minority of patients with cardiac tamponade. [2] The detection of pericardial fluid has been facilitated by the development and continued improvement of echocardiography. [3] Cardiac ultrasound is now accepted as the criterion standard imaging modality for the assessment of pericardial effusions and the dynamic findings consistent with cardiac tamponade. With echocardiography, the location of the effusion can be identified, the size can be estimated (small, medium, or large), and the hemodynamic effects can be examined by assessing for abnormal septal motion, right atrial or right ventricular inversion, and decreased respiratory variation of the diameter of the inferior vena cava.
Endometriosis (en-doe-me-tree-O-sis) is an often painful disorder in which tissue that normally lines the inside of your uterus — the endometrium — grows outside your uterus. Endometriosis most commonly involves your ovaries, fallopian tubes and the tissue lining your pelvis. Rarely, endometrial tissue may spread beyond pelvic organs.
Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas).
NTIS refers to a syndrome found in seriously ill or starving patients with low fT3, usually elevated RT3, normal or low TSH, and if prolonged, low fT4. It is found in a high proportion of patients in the ICU setting, and correlates with a poor prognosis if TT4 is <4ug/dl. The patho-physiology includes suppression of TRH release, reducedT3 and T4 turnover, reduction in liver generation of T3, increased formation of RT3, and tissue specific down-regulation of deiodinases, transporters, and TH receptors. Although long debated, tissue TH levels are definitely reduced, and tissue hypothyroidism is presumably present. This is often not clinically evident because of the brief duration, and reduced but not absent tissue levels of TH. Although recognized for nearly 4 decades, interpretation of the syndrome is contested, because of lack of data. Some observes, totally without data, argue that it is a protective response and should not be treated. Other observers (as in this review) present available data suggesting, but not proving, that thyroid hormone replacement is appropriate, not harmful, and may be beneficial. The best form of treatment (TRH,TSH,or T3+T4) and possible accompanying treatments (GHRH, Cortisol, nutrition, insulin) lack consensus. In this review current data are laid out for reader’s review and judgment.
CPAP is a treatment that uses mild air pressure to keep your breathing airways open. It involves using a CPAP machine that includes a mask or other device that fits over your nose or your nose and mouth, straps to position the mask, a tube that connects the mask to the machine’s motor, and a motor that blows air into the tube. CPAP is used to treat sleep-related breathing disorders including sleep apnea. It also may be used to treat preterm infants who have underdeveloped lungs.
Visualization of the larynx by direct or indirect means is referred to as laryngoscopy and is the principal aim during airway management for passage of a tracheal tube. This paper presents a brief background regarding the development and practice of laryngoscopy and examines the equipment and techniques for both direct and indirect methods. Patient evaluation during the airway examination is discussed, as are predictors for difficult intubation. Laryngoscope blade design, newer intubating techniques, and a variety of indirect laryngoscopic technologies are reviewed, as is the learning curve for these techniques and devices.
Gastroparesis -- literally “paralyzed stomach” -- is a serious condition manifested by delayed emptying of stomach contents into the small intestine after a meal. There is no cure for gastroparesis, but treatment can speed gastric emptying and relieve gastrointestinal symptoms such as nausea and vomiting.
A febrile seizure is a convulsion in a child that may be caused by a spike in body temperature, often from an infection. Your child's having a febrile seizure can be alarming, and the few minutes it lasts can seem like an eternity. Febrile seizures represent a unique response of a child's brain to fever, usually the first day of a fever. Fortunately, they're usually harmless and typically don't indicate an ongoing problem. You can help by keeping your child safe during a febrile seizure and by comforting him or her afterward.
Allergic bronchopulmonary aspergillosis (ABPA) is a condition characterised by an exaggerated response of the immune system (a hypersensitivity response) to the fungus Aspergillus (most commonly Aspergillus fumigatus). It occurs most often in patients with asthma or cystic fibrosis.
An antecedent upper respiratory infection is present in 50% of patients. Abdominal pain is a presenting symptom in 1 0-15% of patients. The skin lesions are symmetric, involve dependent parts of the body, and classically progress from an erythematous, macular rash to papular purpura. The joints and kidneys are also commonly involved