The mortality rate for those still living at time of admission who suffer complications (among others, cardiac arrest or further abnormal heart rhythms, heart failure , cardiac tamponade , a ruptured or dissecting aneurysm, or another heart attack) from cardiogenic shock is even worse around 85%, especially without drastic measures such as ventricular assist devices or transplantation.
Overview Cardiogenic shock is a life-threatening condition in which your heart suddenly can't pump enough blood to meet your body's needs. The condition is most often caused by a severe heart attack, but not everyone who has a heart attack has cardiogenic shock. Cardiogenic shock is rare. It's often deadly if not treated immediately. When treated immediately, about half the people who develop the condition survive. Symptoms Cardiogenic shock signs and symptoms include: Rapid breathing Severe shortness of breath Sudden, rapid heartbeat (tachycardia) Loss of consciousness Weak pulse Low blood pressure (hypotension) Sweating Pale skin Cold hands or feet Urinating less than normal or not at all Symptoms of a heart attack Because cardiogenic shock usually occurs in people who are having a severe heart attack, it's important to know the signs and symptoms of a heart attack.
A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.
Gene PKD1 is located on chromosome 16 and codes for a protein involved in regulation of cell cycle and intracellular calcium transport in epithelial cells, and is responsible for 85% of the cases of ADPKD. [13] A group of voltage-linked cation channels , with inward selectivity for K>Na>>Ca and outward selectivity for Ca2+ ≈ Ba2+ > Na+ ≈ K+, are coded for by PKD2 on chromosome 4 [ citation needed ] PKD3 recently appeared in research papers as a postulated third gene. [10] [11] Fewer than 10% of cases of ADPKD appear in non-ADPKD families.
Overview Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys. Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure. PKD varies greatly in its severity, and some complications are preventable.
Retrospectively, these patients will often report some difficulty in their medical or educational history. [13] BFPP patients demonstrate mental retardation, language impairment, motor developmental delay, and seizure disorders such as epilepsy. [14] The association of epilepsy is in approximately 50% to 85% of affected BFPP patients. The clinical manifestations of polymicrogyria are stable neurologic deficits: In the mildest form , polymicrogyria is unilateral with only one small region of the brain involved; neurologic problems may not be evident.
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
A number sign (#) is used with this entry because bilateral frontoparietal polymicrogyria (BFPP) is caused by homozygous mutation in the ADGRG1 gene (604110) on chromosome 16q21. Mutation in a cis-regulatory region of ADGRG1 causes bilateral perisylvian polymicrogyria (BPPR; 615752). See also unilateral polymicrogyria (610031). Clinical Features In 2 sisters, aged 7 and 10 years, Harbord et al. (1990) described developmental delay and a nonprogressive cerebellar ataxia with similar neurophysiologic and neuroradiologic findings of an extensive neuronal migration defect. There were no dysmorphic features, metabolic abnormalities, chromosomal defects or evidence of prenatal environmental toxins. Harbord et al. (1990) considered that these sibs had an autosomal recessive neuronal migration defect that had not previously been recorded.
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia , strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Lekanne Deprez et al. (1995) found partial or complete loss of chromosome 22 in 66 of 93 meningiomas. Dumanski et al. (1987) studied LOH for chromosome 22 loci in tumor and normal tissue from 35 unrelated patients.
Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
Watermelon stomach is a condition in which the lining of the stomach bleeds, causing it to look like the characteristic stripes of a watermelon when viewed by endoscopy. Although it can develop in men and women of all ages, watermelon stomach is most commonly observed in older women (over age 70 years). Signs and symptoms of watermelon stomach include blood in the stool , hematemesis (vomiting blood) and anemia. The exact cause of watermelon stomach is unknown; however, it is often diagnosed in people with other chronic (long-term) conditions such as cirrhosis (scarring of the liver and poor liver function), autoimmune disease, systemic sclerosis , and CREST syndrome . Treatment consists of surgery and/or medications to stop or control the bleeding.
Overview Farsightedness (hyperopia) is a common vision condition in which you can see distant objects clearly, but objects nearby may be blurry. The degree of your farsightedness influences your focusing ability. People with severe farsightedness may be able to clearly see only objects a great distance away, while those with mild farsightedness may be able to clearly see objects that are closer. Farsightedness usually is present at birth and tends to run in families. You can easily correct this condition with eyeglasses or contact lenses. Another treatment option is surgery. Symptoms Farsightedness may mean: Nearby objects may appear blurry You need to squint to see clearly You have eyestrain, including burning eyes, and aching in or around the eyes You have general eye discomfort or a headache after doing close tasks, such as reading, writing, computer work or drawing, for a time When to see a doctor If your degree of farsightedness is pronounced enough that you can't perform a task as well as you wish, or if your quality of vision detracts from your enjoyment of activities, see an eye doctor.
Overall, disease penetrance was incomplete (64.4%), age-related, and greater in men than women (85% vs 48%; p = 0.009). Probands carrying the founder mutation exhibited significantly higher prevalence of nonsustained ventricular tachycardia and implantable cardioverter-defibrillator placement compared to patients without MYBPC3 mutations or with other MYBPC3 mutations.
A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.
Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). Epidemiology Until now, the incidence of these tumors has been largely underestimated. Oligodendrogliomas may represent up to 30% of all adult gliomas. Annual incidence can therefore be estimated at around one new case per 100,000 individuals per year. Prevalence is estimated at 1/300,000. Clinical description Low grade tumors are usually diagnosed after a prolonged history of seizures and headaches.
Oligodendrogliomas are brain tumors arising from oligodendrocytes, a type of cell that makes up the supportive (glial) tissue of the brain. They can be low-grade (grade II) or high-grade (grade III, also called anaplastic). While they can be found anywhere within the cerebral hemisphere, they are most common in the frontal and temporal lobes. They are generally soft, grayish-pink tumors that often contain mineral deposits (calcifications), areas of hemorrhage, and/or cysts. They tend to grow slowly and may be present for many years before they are diagnosed.
"Pro-choice" implies that the alternative viewpoint is "anti-choice", while "pro-life" implies the alternative viewpoint is "pro-death" or "anti-life". [6] The Associated Press encourages journalists to use the terms "abortion rights" and "anti-abortion". [7] History [ edit ] Because of the nature of their abortion laws, New York City and the District of Columbia became destination centers for women in 1971 who were seeking legal abortions. [8] In 1980, the District of Columbia provided local funding for poor women who sought abortions. These funds covered around 85% of all women in the district seeking abortions.
Herpes simplex virus is transmitted to neonates mainly during delivery (when infected maternal secretions come into contact with the baby and accounting for 85% of cases), but also occur in utero (while the fetus is still in the womb, 5% of cases) or even post-delivery, receiving the infection from the community (10% of cases). [19] The most important factors impacting the transmission of the virus is the stage of the mother's infection (symptomatic or non-symptomatic) and the damage of any maternal membranes during birth (the longer the tissue is damaged, the higher the chance of neonatal infection). [19] Pathogenesis [ edit ] Generally, the progression of neonatal meningitis starts with bacteria colonizing the gastrointestinal tract .
Molecular Genetic Testing Used in Primary Familial Congenital Polycythemia View in own window Gene 1 Method Proportion of Probands with a Pathogenic Variant 2 Detectable by Method EPOR Sequence analysis 3 12%-15% 4 Gene-targeted deletion/duplication analysis 5 None reported to date Unknown 85%-88% 6 1. See Table A. Genes and Databases for chromosome locus and protein. 2.
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke.
Some disorders, like ALS, can occur sporadically (85%) or can have a genetic cause (15%) with the same clinical symptoms and progression of disease. [6] UMNs are motor neurons that project from the cortex down to the brainstem or spinal cord. [12] LMNs originate in the anterior horns of the spinal cord and synapse on peripheral muscles. [12] Both motor neurons are necessary for the strong contraction of a muscle, but damage to an UMN can be distinguished from damage to a LMN by physical exam.
Overview Contact dermatitis is an itchy rash caused by direct contact with a substance or an allergic reaction to it. The rash isn't contagious, but it can be very uncomfortable. Many substances can cause this reaction, such as cosmetics, fragrances, jewelry and plants. The rash often shows up within days of exposure. To treat contact dermatitis successfully, you need to identify and avoid the cause of your reaction. If you avoid the substance causing the reaction, the rash often clears up in 2 to 4 weeks. You can try soothing your skin with a cool, wet cloth and other self-care steps.
This can usually be accomplished in about 24–48 hours. [ citation needed ] Intravenous and oral atropine may be used to treat pyloric stenosis. It has a success rate of 85-89% compared to nearly 100% for pyloromyotomy, however it requires prolonged hospitalization, skilled nursing and careful follow up during treatment. [16] It might be an alternative to surgery in children who have contraindications for anesthesia or surgery, or in children whose parents do not want surgery.
Overview Pyloric stenosis is an uncommon condition in infants that blocks food from entering the small intestine. Typically, a muscular valve between the stomach and small intestine holds food in the stomach until it is ready for the next stage in the digestive process. This valve is called the pylorus valve. In pyloric stenosis, the pylorus muscles thicken and become abnormally large, blocking food from reaching the small intestine. Pyloric stenosis can lead to forceful vomiting, dehydration and weight loss. Babies with pyloric stenosis may seem to be hungry all the time. Surgery cures pyloric stenosis.
. ^ Jacob SE, Goldenberg A, Pelletier JL, Fonacier LS, Usatine R, Silverberg N (2015), "Nickel allergy and Our Children's Health: A Review of Indexed Cases and a View of Future Prevention", Pediatric Dermatology , 32 (6): 779–85, doi : 10.1111/pde.12639 , PMID 26212605 , S2CID 23566200 ^ [1] ^ Mayo Clinic study, http://www.mayoclinic.org/news2006-rst/3268.html ^ (Kimble et al. 2002). ^ (Kimble et al. 2002) ^ White SI, Friedmann PS, Moss C, Simpson JM (1986).