Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Ataque de nervios was first mentioned in Puerto Rico by US military psychiatrists who observed a young Puerto Rican experiencing unusual illness.
Reported aspects of the syndrome include uncontrollable screaming or shouting, crying, trembling, sensations of heat rising in the chest and head, dissociative experiences, and verbal or physical aggression. The reaction is usually associated with a stressful event relating to the family, although it is not specifically defined as arising from such occurrences.
In medicine and medical anthropology, a culture-bound syndrome, culture-specific syndrome, or folk illness is a combination of psychiatric and somatic symptoms that are considered to be a recognizable disease only within a specific society or culture. There are no objective biochemical or structural alterations of body organs or functions, and the disease is not recognized in other cultures. The term "culture-bound syndrome" was included in the fourth version of the "Diagnostic and Statistical Manual of Mental Disorders" (American Psychiatric Association, 1994) which also includes a list of the most common culture-bound conditions (DSM-IV: Appendix I). Counterpart within the framework of ICD-10 () are the "culture-specific disorders" defined in Annex 2 of the "Diagnostic criteria for research".
More broadly, an epidemic that can be attributed to cultural behavior patterns or suggestion is sometimes referred to as a behavioral epidemic. As in the cases of drug or alcohol abuse or smoking, transmission can be determined by communal reinforcement as well as by person-to-person interactions. On etiological grounds, it can be difficult to distinguish the causal contribution of culture in disease from other environmental factors such as toxicity.
The condition is thought to be under-reported in the medical literature. A study of 27 cases conducted by Timothy C Hain in 1999 noted all but one patient to be female. The average age in this series was 49 years. This apparent gender disparity, however, may be due in part to the fact that the questionnaire which formed the basis of the study was circulated in a publication with a predominantly female reader base.
Subsequent studies have produced conflicting results with regard to the gender distribution of MdDS. The trends in Hain's report have recently been supported by the MdDS Balance Disorder Foundation, in a study of over 100 individuals diagnosed with MdDS. The female:male ratio was approximately 9:1; the average age of onset was 43–45 years. However, another recent study found that 44% of subjects who had experienced MdDS for 2 years or more were male, suggesting a more even distribution.
It has been shown to occur in excursions of as little as 30 minutes though it has been unclear how long it takes for symptoms to occur. The most commonly reported inciting event was a prolonged ocean cruise (~45%); however, shorter boating excursions (~22%), aircraft travel (~15%), and automobile travel (~8%) have all been described.
Mal de Débarquement syndrome has been noted as far back to the times of Erasmus Darwin in 1796, and Irwin J A (1881) "The pathology of seasickness".
Cases of MdDS have been reported in children as young as eight and in both genders. Men may have a more difficult time obtaining a diagnosis due to the disparity of women reported. When sailors and soldiers returned from World War II, the syndrome was reported at a higher rate in males.
Paris syndrome (, , "Pari shōkōgun") is a transient mental disorder exhibited by some individuals when visiting or going on vacation to Paris, as a result of extreme shock derived from their discovery that Paris is not what they had expected it to be. The syndrome is characterized by a number of psychiatric symptoms such as acute delusional states, hallucinations, feelings of persecution (perceptions of being a victim of prejudice, aggression, or hostility from others), derealization, depersonalization, anxiety, and also psychosomatic manifestations such as dizziness, tachycardia, sweating, and others, such as vomiting. Similar syndromes include Jerusalem syndrome and Stendhal syndrome. The condition is commonly viewed as a severe form of culture shock. It is particularly noted among Japanese travelers.
In persistent MdDS, the symptoms continue for more than a month, possibly years or indefinitely. The longer the disorder remains, there is a progressively lower likelihood of remission. All medical treatment is palliative for sufferers with persistent MdDS symptoms.
Professor Hiroaki Ota, a Japanese psychiatrist working in France, is credited as the first person to diagnose the condition in 1986. However, later work by Youcef Mahmoudia, physician with the hospital Hôtel-Dieu de Paris, indicates that Paris syndrome is "a manifestation of psychopathology related to the voyage, rather than a syndrome of the traveller." He theorized that the excitement resulting from visiting Paris causes the heart to accelerate, causing giddiness and shortness of breath, which results in hallucinations in the manner similar to the Stendhal syndrome described by Italian psychiatrist Graziella Magherini in her book "La sindrome di Stendhal".
Jumping Frenchmen of Maine syndrome must be distinguished from other conditions involving the startle reflex or tics.
Tourette syndrome is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic. There are many overlaps when compared clinically, but the abnormal "jumping" response is always provoked, unlike the involuntary tics in Tourette syndrome.
Latah from Southeast Asia is a disorder where one's startle response is similar to a state of trance with repetitive speech or movements. Miryachit is a disorder found in Siberia that also displays an action similar to "jumping". Neurasthenia is a disorder with a startle response during periods of great fatigue.
Hyperekplexia is an extremely rare autosomal dominant neurological disease. The symptoms start in infancy with hypertonia, an abnormal muscle tension that decreases flexibility, and an exaggerated startle in all ages of life.
The cause of Jumping Frenchmen syndrome is unknown. One theory is that it is a genetic condition. Observation of 50 cases found the disorder to be remotely located and concentrated in the northern regions of Maine. Fourteen of these cases were found in four families. Another set of cases were found in a single family where the father, his two sons, and his two grandchildren exhibited "jumping" behavior.
It may also be a culture-bound syndrome or a formed habit. These French "jumpers" lived in a very remote region and most were lumberjacks. This type of small community would allow for a majority to adapt to this sort of reaction. Also, instances of many being shy may imply that the "jumper" was positively reinforced by the sudden attention as the entertainment for a group.
In 1885, Georges Gilles de la Tourette included Jumping Frenchmen syndrome in the typology of "convulsive tic illness"; studies of the condition in the 1980s cast doubt on whether the phenomenon was in fact a physical condition similar to Tourette syndrome. Documentation of direct observation of "Jumping Frenchmen" has been scarce, and while videotape evidence was recorded by several researchers that showed the condition to be real, MH and JM Saint-Hilaire concluded from studying eight affected people that it was brought on by conditions at their lumber camps and was psychological, not neurological.
A culture-specific syndrome is characterized by:
1. categorization as a disease in the culture (i.e., not a voluntary behaviour or false claim);
2. widespread familiarity in the culture;
3. complete lack of familiarity or misunderstanding of the condition to people in other cultures;
4. no objectively demonstrable biochemical or tissue abnormalities (signs);
5. the condition is usually recognized and treated by the folk medicine of the culture.
Some culture-specific syndromes involve somatic symptoms (pain or disturbed function of a body part), while others are purely behavioral. Some culture-bound syndromes appear with similar features in several cultures, but with locally specific traits, such as penis panics.
A culture-specific syndrome is not the same as a geographically localized disease with specific, identifiable, causal tissue abnormalities, such as kuru or sleeping sickness, or genetic conditions limited to certain populations. It is possible that a condition originally assumed to be a culture-bound behavioral syndrome is found to have a biological cause; from a medical perspective it would then be redefined into another nosological category.
Egomania is also known as an obsessive preoccupation with one's self and applies to someone who follows their own ungoverned impulses and is possessed by delusions of personal greatness and feels a lack of appreciation. Someone suffering from this extreme egocentric focus is an egomaniac. The condition is psychologically abnormal.
The term "egomania" is often used by laypersons in a pejorative fashion to describe an individual who is intolerably self-centred. The clinical condition that most resembles the popular conception of egomania is narcissistic personality disorder.
“Mongrel complex" ("Complexo de vira-Lata" in Portuguese) is an expression used to refer to a collective inferiority complex felt by some Brazilian people in comparison to Europe or the United States. The reference to a "mongrel" (as opposed to "pure-bred") carries negative connotations attributed to most Brazilians being racially mixed as well as a perception of lacking cultural refinement.
Victor Khrisanfovich Kandinsky () (1849, Byankino, Siberia - 1889) was a Russian physician, and was 2nd cousin to famed artist Wassily Kandinsky. He was born in Siberia into a large family of extremely wealthy businessmen.
In 1877 as a military physician in the Balkans during the Russo-Turkish War, he began experiencing mood swings and hallucinations. Kandinsky performed self-diagnosis, and he referred to his mental condition as "Primäre Verrücktheit" (primary paranoid psychosis) which has been anachronistically translated into modern terms as a "schizophrenic-like state". In 1885 Kandinsky published a book written in German on "pseudohallucinations" in which he describes and details hallucinations largely based on his personal experiences. In September 1889, feeling that his psychotic symptoms were returning, he took his own life by taking an overdose of morphine. He died as a patient in the institution he had formerly run as the medical superintendent, the St. Nicholas Asylum in St. Petersburg.
In a monograph published posthumously in 1890, Kandinsky described a condition which involved being alienated from one's personal mental processes, combined with delusions of being physically and mentally influenced by external forces. The syndrome he described is now known as Kandinsky-Clérambault syndrome, named along with French psychiatrist Gaëtan Gatian de Clérambault. The syndrome also known as "syndrome of psychic automatism".
Erotomania is a type of delusional disorder where the affected person believes that another person is in love with him or her. This belief is usually applied to someone with higher status or a famous person, but can also be applied to a complete stranger. Erotomanic delusions often occur in patients with schizophrenia and other psychotic disorders, but can also occur during a manic episode in the context of bipolar I disorder. During an erotomanic delusion, the patient believes that a secret admirer is declaring his or her affection for the patient, often by special glances, signals, telepathy, or messages through the media. Usually the patient then returns the perceived affection by means of letters, phone calls, gifts, and visits to the unwitting recipient. Even though these advances are unexpected and often unwanted, any denial of affection by the object of this delusional love is dismissed by the patient as a ploy to conceal the forbidden love from the rest of the world.
Erotomania is also called de Clérambault's syndrome, after French psychiatrist Gaëtan Gatian de Clérambault (1872–1934), who published a comprehensive review paper on the subject ("Les Psychoses Passionnelles") in 1921. Erotomania should not be confused with obsessive love or obsession with unrequited love, neither of which involves delusion.
The vast majority of cases are due to spontaneous genetic mutations.
It can be associated with mutations affecting the cohesin complex.
Multiple genes have been associated with the condition. In 2004, researchers at the Children's Hospital of Philadelphia (United States) and the University of Newcastle upon Tyne (England) identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated. Since then, additional genes have been found (SMC1A, SMC3 and HDAC8) that cause CdLS when changed. There are likely other genes as well. Researchers hope to gain a better understanding of why CdLS varies so widely from one individual to another and what can be done to improve the quality of life for people with the syndrome.
The latter two genes seem to correlate with a milder form of the syndrome.
In July 2012, the fourth “CdLS gene”—HDAC8—was announced. Many parents and professionals have
questions about this latest finding and what it means. HDAC8 is an X-linked gene, meaning it is located on the X chromosome. Individuals with CdLS who have the gene change in HDAC8 make up just a small portion of all people with CdLS.
Evidence of a linkage at chromosome 3q26.3 is mixed.
Egomania has also been linked with alcoholism. 'Egomania drives many young alcoholics...alcoholism-created egomania'. A recovering alcoholic may well look back at the past as 'the land of self-loathing, egomania, and decay'.
The danger with the egomaniac is always that 'underneath the apparent over-confidence and bravado lies a fragile personality', driven by 'grandiose fantasies of boundless success or power or perfect love' which cannot be fulfilled.
Gueules cassées (broken faces) is a French expression for facially disfigured servicemen which originated in World War I. Colonel Yves Picot is said to have coined the term when he was refused passing a checkpoint to a party.
The core symptom of the disorder is that the sufferer holds an unshakable belief that another person is secretly in love with them. In some cases, the sufferer may believe several people at once are "secret admirers". The sufferer may also experience other types of delusions concurrently with erotomania, such as delusions of reference, wherein the perceived admirer secretly communicates his or her love by subtle methods such as body posture, arrangement of household objects, and other seemingly innocuous acts (or, if the person is a public figure, through clues in the media). Erotomanic delusions are typically found as the primary symptom of a delusional disorder or in the context of schizophrenia and may be treated with atypical antipsychotics.
Intermetamorphosis is a delusional misidentification syndrome, related to agnosia. The main symptoms consist of patients believing that they can see others change into someone else in both external appearance and internal personality. The disorder is usually comorbid with neurological disorders or mental disorders.
An example from medical literature is a man who was diagnosed with Alzheimer's disease. After some time he mistook his wife for his deceased mother and later for his sister. As an explanation, he stated that he had never been married or that his wife had left him. Later he mistook his son for his brother and his daughter for another sister. Visual agnosia or prosopagnosia were not diagnosed, as the misidentification also took place during phone calls. On several occasions he mistook the hospital for the church he used to go to.
The disorder was first described in 1932 by P. Courbon and J. Tusques ("Illusions d'intermétamorphose et de la charme"), in the Journal: Annales Medico-Psychologiques issue 14, page 401-406.
Respiratory complications are often cause of death in early infancy.
The Cornelia de Lange Syndrome (CdLS) Foundation is a nonprofit, family support organization based in Avon, Connecticut, that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lives.
The word neuroleptic originates from the Greek word lepsis ("seizure" or "fit"). Antipsychotics ( neuroleptics or tranquilizers) were investigated by the anesthesiologists De Castro and Mundeleer who coined the term neuroleptanalgesia, an anesthetic process that involves combining a major neuroleptic tranquilizer/antipsychotic with a potent opioid analgesic to produce a detached, pain-free state. This technique was widely used from the 1960s onwards, initially using a combination of phenoperidine and haloperidol, which was subsequently replaced in the early 1980s by a combination of fentanyl and droperidol. Efforts were also made to develop compounds which combined both types of activity in a single molecule. Neuroleptanalgesia results in amnesia among some, but not all, patients. The technique has become less popular with the advent of more modern procedural sedation drug combinations, though it is still rarely used today.
After the first discovery and description of Marshall–Smith syndrome in 1971, research to this rare syndrome has been carried out.
- Adam, M., Hennekam, R.C.M., Butler, M.G., Raf, M., Keppen, L., Bull, M., Clericuzio, C., Burke, L., Guttacher, A., Ormond, K., & Hoyme, H.E. (2002). Marshall–Smith syndrome: An osteochondrodysplasia with connective tissue abnormalities. 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis, August 7, Clemson, SC.
- Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American Journal of Medical Genetics 137A:117–124, 2005.
- Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#{225}ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#{243}sito de una observad#{243}n personal. An Esp Pediatr 1983; 18:45-50.
- Butler, M.G. (2003). Marshall–Smith syndrome. In: The NORD Guide to Rare Disorders. (pp219–220) Lippincott, Williams & Wilkins, Philadelphia, PA.
- Charon A, Gillerot T, Van Maldergem L, Van Schaftingen MH, de Bont B, Koulischer L. The Marshall–Smith syndrome. Eur J Pediatr 1990; 150: 54-5.
- Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G. & Gillerot, Y. (1998). Anaesthetic management of a child with Marshall–Smith syndrome. Canadian Journal of Anesthesia. 45 (7): 660. Anaesthetic management of a child with Marshall-Smith syndrome
- Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall–Smith syndrome. Clinical Report: Osseous fragility in Marshall-Smith syndrome
- Ehresmann, T., Gillessen-Kaesbach G., Koenig R. (2005). Late diagnosis of Marshall Smith Syndrome (MSS). In: Medgen 17.
- Hassan M, Sutton T, Mage K, LimalJM, Rappaport R. The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations: (the so-called Marshall–Smith syndrome). Pediatr Radiol 1976; 5:53-57.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. Western Society for Pediatric Research, Carmel, California, February, 1987. Clin Res 35:68A, 1987.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. David W. Smith Morphogenesis and Malformations Workshop. Greenville, SC, August, 1987. Proceedings of the Greenwood Genetics Center 7:152, 1988.
- Hoyme HE, Byers PH, Guttmacher AE: Marshall–Smith syndrome: Further evidence of an osteochondrodysplasia in long-term survivors. David W. Smith Morphogenesis and Malformations Workshop, Winston-Salem, NC, August, 1992. Proceedings of the Greenwood Genetic Center 12:70, 1993.
- .
- Tzu-Jou Wang (2002). Marshall–Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. Am J Med Genet Part A;112 (1):107-108.
Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in less than 100 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified.
Kosaki overgrowth syndrome (KOGS) is a rare (27 cases reported by 2017) syndrome caused by mutations in the PDGFRB gene.