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Since the mutation is a genetic issue, there is currently no cure for the flush reaction. Clinicians and the East Asian public generally know about the alcohol flushing response. Prevention would include not drinking alcohol.
Specific treatments are not mentioned. The affected person may go to a medical clinic that specializes in sexual health. If no medical problems are found, therapy may be used to help deal with stress, or anxiety medicines may be used.
Disorders, who they affect, and how they affect are different within each culture. In order to diagnose someone, it is necessary to make the effort to understand their home culture. Whether it is a culture bound syndrome or not, a person’s background determines how they see and interpret their own symptoms and how it must be treated.
Several criteria are typically used to make a diagnosis of koro. The primary criteria is a patient's report of genital (typically penile or female nipple) retraction despite a lack of objective physical evidence demonstrating retraction. This is accompanied by severe anxiety related to the retraction, fear of death as a result of retraction, and use of mechanical means to prevent retraction. Cases that do not meet all the requirements are generally classified as koro-like symptoms or given a diagnosis of partial koro syndrome. It has been argued that the criteria are sufficient but not necessary to make a diagnosis of koro. Researchers have identified Koro as a possible "cultural relative" of Body Dysmorphic Disorder. DSM-IV explains the process of differential diagnosis between these two disorders.
A full medical, psychosexual and psychiatric history should be documented. The physician should explore the patient’s concerns about appearance and body image (ruling out body dysmorphic disorder). Additionally, the physician should inquire about overall beliefs, personal values, and assumptions that the patient is making about his or her genitals. Given that Koro is often an “attack” with a great deal of associated anxiety, the physician should ascertain the patient’s emotional state along with the timeline from onset to the presentation at the examination.
A physical examination should involve an assessment of overall health along with a detailed genital examination. In men, genital examination should be performed immediately after penile exposure, to avoid changes due to external temperature. The primary intent of the male exam is to exclude genuine penile anomalies such as hypospadias, epispadias and Peyronie's disease. The presence of a significant suprapubic fat pad should be noted as well. Careful measurements of flaccid length, stretched length and flaccid girth will also be useful. If male patients insist that their penis is shrinking and disappearing, measurements after intracavernosal alprostadil may be used in the office to determine the true erect length and to diagnose any penile abnormalities in the erect state. A physical examination should note any injuries inflicted by the patient in an effort to "prevent" retraction as further confirmation of Koro.
CARASIL is diagnosed by MRI scans of the brain. Diffuse white matter changes (leukoencephalopathy) and multiple lacunar infarcts in basal ganglia of thalamus are usually determining factors seen on MRI scans of affected individuals. Further genetic testing can be used to confirm the presence of the disease.
The diagnosis is based on involvement of less than 10% of the skin. It is known as TEN when more than 30% of the skin is involved and an intermediate form with 10 to 30% involvement. A positive Nikolsky's sign is helpful in the diagnosis of SJS and TEN. A skin biopsy is helpful, but not required, to establish a diagnosis of SJS and TEN.
Yunnan sudden death syndrome is a label used to define unexplained cases of cardiac arrest, which afflicted significant numbers of rural villagers in Yunnan province, in southwest China. Cases occurred almost always during the midsummer rainy season (from June to August), at an altitude of . The cause turned out to be a mushroom now blamed for an estimated 400 deaths in the past three decades.
The mysterious fatalities were recorded for decades before researchers from the Chinese Center for Disease Control and Prevention isolated a significant factor common in every case: a tiny unknown mushroom which was unintentionally gathered and consumed during wild mushroom harvests in the region. Previously the syndrome was thought to be caused by Keshan disease, caused by the Coxsackie virus.
The mushroom, "Trogia venenata", is also known as 'Little White'. It has been determined that families collecting fungi to sell have been eating these Little White mushrooms as they have no commercial value. Three amino acids present in the mushrooms have been shown to be toxic. The mushrooms have also been shown to contain very high quantities of barium, and it may be that some of the deaths are simply from barium poisoning.
In the hours before death, about two-thirds of the victims had such symptoms as nausea, dizziness, heart palpitations, seizures and fatigue.
However, in December 2012 it was announced that Dr Xu Jianping (徐建平) has been collecting samples of "Trogia venenata" in Yunnan for the past three years, and his research now shows that barium levels in the wild mushroom are no higher than those of common foods such as poultry and fish. Nonetheless, it appears the mushroom will still likely play a role. Since publication of the widely circulated 2010 "Science" article, no instances of Yunnan sudden death syndrome have been reported.
Stevens–Johnson syndrome (SJS) is a milder form of toxic epidermal necrolysis (TEN). These conditions were first recognised in 1922. A classification first published in 1993, that has been adopted as a consensus definition, identifies Stevens–Johnson syndrome, toxic epidermal necrolysis, and SJS/TEN overlap. All three are part of a spectrum of severe cutaneous reactions (SCAR) which affect skin and mucous membranes. The distinction between SJS, SJS/TEN overlap, and TEN is based on the type of lesions and the amount of the body surface area with blisters and erosions. It is agreed that the most reliable method to classify EM, SJS, and TEN is based on lesion morphology and extent of epidermal detachment. Blisters and erosions cover between 3% and 10% of the body in SJS, 11–30% in SJS/TEN overlap, and over 30% in TEN. The skin pattern most commonly associated with SJS is widespread, often joined or touching (confluent), papuric spots (macules) or flat small blisters or large blisters which may also join together. These occur primarily on the torso.
SJS, TEN, and SJS/TEN overlap can be mistaken for erythema multiforme. Erythema multiforme, which is also within the SCAR spectrum, differs in clinical pattern and etiology. Although both SJS and TEN can also be caused by infections, they are most often adverse effects of medications.
The WHO has published several testing protocols for the disease. The standard method of testing is real-time reverse transcription polymerase chain reaction (rRT-PCR). The test is typically done on respiratory samples obtained by a nasopharyngeal swab; however, a nasal swab or sputum sample may also be used. Results are generally available within a few hours to two days. Blood tests can be used, but these require two blood samples taken two weeks apart and the results have little immediate value. Chinese scientists were able to isolate a strain of the coronavirus and publish the genetic sequence so laboratories across the world could independently develop polymerase chain reaction (PCR) tests to detect infection by the virus. As of 4 April 2020, antibody tests (which may detect active infections and whether a person had been infected in the past) were in development, but not yet widely used. The Chinese experience with testing has shown the accuracy is only 60 to 70%. The FDA in the United States approved the first point-of-care test on 21 March 2020 for use at the end of that month.
Diagnostic guidelines released by Zhongnan Hospital of Wuhan University suggested methods for detecting infections based upon clinical features and epidemiological risk. These involved identifying people who had at least two of the following symptoms in addition to a history of travel to Wuhan or contact with other infected people: fever, imaging features of pneumonia, normal or reduced white blood cell count or reduced lymphocyte count.
A study asked hospitalized COVID-19 patients to cough into a sterile container, thus producing a saliva sample, and detected virus in eleven of twelve patients using RT-PCR. This technique has the potential of being quicker than a swab and involving less risk to health care workers (collection at home or in the car).
Along with laboratory testing, chest CT scans may be helpful to diagnose COVID-19 in individuals with a high clinical suspicion of infection but is not recommended for routine screening. Bilateral multilobar ground-glass opacities with a peripheral, asymmetric and posterior distribution are common in early infection. Subpleural dominance, crazy paving (lobular septal thickening with variable alveolar filling), and consolidation may appear as the disease progresses.
Chinese folk beliefs hold that the Yin (Chinese: 陰) represents femininity, slow, cold, wet, passive, water, the moon, and nighttime. And that Yang represents masculinity, fast, dry, hot, aggressive, fire, the sun, and daytime.
Loss of yang would result in an abundance of Yin. It is also believed that if a case of Shenkui is severe enough, it could result in death.
Informal or incomplete education about sexual health in China leaves a lot of room for folk beliefs to thrive. Often, advertisements support such beliefs to encourage use of traditional medicines. In Chinese folk beliefs, the loss of semen can cause imbalance in the body, leaving you with aches and pains and trouble performing.
A lallation (also called cambia-letras or troca-letra, "letter changer", in Latin American countries) is an imperfect enunciation of the letter "L", in which it sounds like "R" (or vice versa), as frequently found in infantile speech.
The speech pattern has been particularly associated with the use of the Portuguese, Spanish and English languages by Chinese, Korean, and Japanese people. The use of lallation has thus been a common feature of Western stereotypes of East Asian people. It is also common among English-speakers in parts of East Africa.
The exact nature of the poison is still unclear. In the U.S. outbreak, the source of the fish was traced by the Centers for Disease Control and Prevention, and studies of other fish from the same sources showed a hexane-soluble (and hence non-polar lipid) substance that induced similar symptoms in mice; other food-borne poisons commonly found in fish could not be detected. It cannot be inactivated by cooking, as all six CDC cases had consumed cooked or fried fish. Palytoxin has been proposed as a disease model. It has also been suggested that the toxin may have thiaminase activity (i.e. it degrades thiamine, also known as vitamin B1).
Since this syndrome is very rare, it takes a multidisciplinary team to evaluate the syndrome and diagnose it, including speech-language pathologists, neurolinguists, neurologists, neuropsychologists, and psychologists. In 2010, Verhoeven and Mariën identified several subtypes of Foreign Accent Syndrome. They described a neurogenic, developmental, psychogenic and mixed variant. Neurogenic FAS is the term used when FAS occurs after central nervous system damage. Developmental FAS is used when the accent is perceptible as of an early age, e.g. children who have always spoken with an accent. Psychogenic FAS is used when FAS is psychologically induced, associated with psychiatric disorder or clear psychiatric traits. The term mixed FAS is used when patients develop the disorder after neurological damage, but the accent change has such a profound impact on the self-perception and identity that they will modify or enhance the accent to make it fit with the new persona. Hence, there is a psychological component.
Diagnosis, up until today, is generally purely perceptually based. However, in order to find out what subtype the patient is suffering from, complementary investigations are necessary. This differentiation is necessary for the clinician to allow for correct therapeutic guidance. Psychological evaluations may be performed in order to rule out any psychiatric condition that may be causing the change in speech, as well as tests to assess reading, writing, and language comprehension in order to identify comorbid disorders often co-occurring with the disorder. One of the symptoms of this syndrome is that the patient moves their tongue or jaw differently while speaking, which creates a different sound, so a recording is done of the speech pattern in order to analyze it. Often images of the brain are taken with either MRI, CT, SPECT or PET scans. This is done in order to see if there is structural and or functional damage in the areas of the brain that control speech and/or rhythm and melody of speech. EEG is sometimes performed to investigate whether there are disturbances at the electrophysiological level.
Treatment is in the form of supportive care. If there is light-headedness, the victim should lie with feet partly elevated. If there is severe wheezing, then intramuscular epinephrine should be given, 0.5–1 ml at dilution of 1/1000 (standard medical emergency kit). An intravenous antihistamine like diphenhydramine should be given if needed.
There is currently no treatment or cure for CARASIL. Most frequently, a combination of supportive care and medications to prevent the occurrence of stroke are recommended.
Few data are available about microscopic lesions and the pathophysiology of COVID-19. The main pathological findings at autopsy are:
- Macroscopy: pleurisy, pericarditis, lung consolidation and pulmonary oedema
- Four types of severity of viral pneumonia can be observed:
- minor pneumonia: minor serous exudation, minor fibrin exudation
- mild pneumonia: pulmonary oedema, pneumocyte hyperplasia, large atypical pneumocytes, interstitial inflammation with lymphocytic infiltration and multinucleated giant cell formation
- severe pneumonia: diffuse alveolar damage (DAD) with diffuse alveolar exudates. DAD is the cause of acute respiratory distress syndrome (ARDS) and severe hypoxemia.
- healing pneumonia: organisation of exudates in alveolar cavities and pulmonary interstitial fibrosis
- plasmocytosis in BAL
- Blood: disseminated intravascular coagulation (DIC); leukoerythroblastic reaction
- Liver: microvesicular steatosis
It was first described in 1924 in the vicinity of Königsberg, Germany (now Kaliningrad, Russia) on the Baltic coast, in people staying around the northern part of the Vistula Lagoon (German: "Frisches Haff").
Over the subsequent fifteen years, about 1000 cases were reported in people, birds and cats, usually in the summer and fall, and a link was made with the consumption of fish (burbot, eel and pike). Since that time, only occasional reports have appeared of the condition, mostly from the Soviet Union and Germany.
In 1997, six cases of Haff disease were reported in California and Missouri, all after the consumption of buffalo fish ("Ictiobus cyprinellus").
In July and August 2010, dozens of people contracted rhabdomyolysis after eating "Procambarus clarkii" in Nanjing, China. A month later, the Chinese authorities claimed they were victims of Haff disease.
An outbreak was reported in Brooklyn, New York on 18 November 2011, when two household members were stricken by the syndrome after eating buffalo fish. On February 4, 2014 two cases of Haff Disease were reported in Cook County, Illinois following the consumption of buffalo fish.
A group from Brazil has recently identified a Haff Disease outbreak in Bahia state with 71 cases identified.
Individuals who experience the alcohol flushing reaction may be less prone to alcoholism. Disulfiram, a drug sometimes given as treatment for alcoholism, works by inhibiting acetaldehyde dehydrogenase, causing a five to tenfold increase in the concentration of acetaldehyde in the body. The resulting irritating flushing reaction tends to discourage affected individuals from drinking.
For measuring the level of flush reaction to alcohol, the most accurate method is to determine the level of acetaldehyde in the blood stream. This can be measured through both a breathalyzer test or a blood test. Additionally, measuring the amount of alcohol metabolizing enzymes alcohol dehydrogenases and aldehyde dehydrogenase through genetic testing can predict the amount of reaction that one would have. More crude measurements can be made through measuring the amount of redness in the face of an individual after consuming alcohol. Computer and phone applications can be used to standardize this measurement.
Other effects include "nausea, headache and general physical discomfort".
Many cases of alcohol-induced respiratory reactions, which involve rhinitis and worsening of asthma, develop within 1–60 minutes of drinking alcohol and are due to the same causes as flush reactions.
Definitive diagnosis is made by suction biopsy of the distally narrowed segment. A histologic examination of the tissue would show a lack of ganglionic nerve cells. Diagnostic techniques involve anorectal manometry, barium enema, and rectal biopsy.
The suction rectal biopsy is considered the current international gold standard in the diagnosis of Hirschsprung's disease.
Radiologic findings may also assist with diagnosis. Cineanography (fluoroscopy of contrast medium passing anorectal region) assists in determining the level of the affected intestines.
Zhu Ling (, born 1973) is best known as the victim of an unsolved 1995 thallium poisoning case in Beijing, China. Her symptoms were posted to the Internet via a Usenet newsgroup by her friend from Peking University, Bei Zhicheng and were subsequently proven to be caused by thallium poisoning. Her case was then reviewed by physicians in many different countries who examined her symptoms and made suggestions as to diagnoses and treatment. This effort was recognized as the first large scale tele-medicine trial. Her life was ultimately saved, but she suffered serious neurological damage and permanent physical impairment.
This case drew great attention in the Chinese media, because the victim and the suspect were living in the same dormitory in the most prestigious university of China, and the case was never solved. Internet discussion of the crime has continued since then and became a hot topic on major online Chinese communities very frequently as a high-profile cold case.
In the second edition of the Chinese Classification of Mental Disorders (CCMD-2) published by the Chinese Society of Psychiatry the diagnosis of “Qigong Deviation Syndrome” is based upon the following criteria:
- The subject being demonstrably normal before doing qigong exercises
- Psychological and physiological reactions appearing during or after qigong exercises (suggestion and autosuggestion may play an important role in these reactions)
- Complaints of abnormal sensations during or after qigong exercises
- Diagnostic criteria do not meet other mental disorders such as schizophrenia, affective disorder, and neurosis.
A triplex tetra-primer ARMS-PCR method was developed for the simultaneous detection of C677T and A1298C polymorphisms with the A66G MTRR polymorphism in a single PCR reaction.
In Chinese alchemy, elixir poisoning refers to the toxic effects from elixirs of immortality that contained metals and minerals such as mercury and arsenic. The official "Twenty-Four Histories" record numerous Chinese emperors, nobles, and officials who ironically died from taking elixirs in order to prolong their lifespans. The first emperor to die from elixir poisoning was likely Qin Shi Huang (d. 210 BCE) and the last was Yongzheng (d. 1735). Despite common knowledge that immortality potions could be deadly, fangshi and Daoist alchemists continued the elixir-making practice for two millennia.
In the brain, domoic acid especially damages the hippocampus and amygdaloid nucleus. It damages the neurons by activating AMPA and kainate receptors, causing an influx of calcium. Although calcium flowing into cells is a normal event, the uncontrolled increase of calcium causes the cell to degenerate. See reviews by Ramsdell (2007) and Pulido (2008).
Gastrointestinal symptoms can appear 24 hours after ingestion of affected molluscs. They may include vomiting, nausea, diarrhea, abdominal cramps and haemorrhagic gastritis. In more severe cases, neurological symptoms can take several hours or up to three days to develop. These include headache, dizziness, disorientation, vision disturbances, loss of short-term memory, motor weakness, seizures, profuse respiratory secretions, hiccups, unstable blood pressure, cardiac arrhythmia and coma.
People poisoned with very high doses of the toxin or displaying risk factors such as old age and renal failure can die. Death has occurred in 4 of 107 confirmed cases. In a few cases, permanent sequelae included short-term memory loss and peripheral polyneuropathy.
There is no known antidote available for domoic acid, so if symptoms fit the description, it is advised to go quickly to a hospital. Cooking or freezing affected fish or shellfish tissue does not lessen the toxicity.
New research has found that domoic acid is a heat-resistant and very stable toxin which can damage kidneys at concentrations that are 100 times lower than what causes neurological effects.
The usual initial investigations include chest X ray, electrocardiogram and echocardiography. Typical findings are those of an enlarged heart with non specific conduction defects. Biochemical investigations include serum creatine kinase (typically increased 10 fold) with lesser elevations of the serum aldolase, aspartate transaminase, alanine transaminase and lactic dehydrogenase. Diagnosis is made by estimating the acid alpha glucosidase activity in either skin biopsy (fibroblasts), muscle biopsy (muscle cells) or in white blood cells. The choice of sample depends on the facilities available at the diagnostic laboratory.
In the late onset form, the findings on investigation are similar to those of the infantile form with the caveat that the creatinine kinases may be normal in some cases. The diagnosis is by estimation of the enzyme activity in a suitable sample.
On May 17, 2013 the Secretary's Discretionary Advisory Committee on Heritable Diseases in Newborns and Children (DACHDNC) approved a recommendation to the Secretary of Health and Human Services to add Pompe to the Recommended Uniform Screening Panel (RUSP). The HHS secretary must first approve the recommendation before the disease is formally added to the panel.