Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. Epidemiology The overall prevalence and incidence of MEN are not known. The prevalence of MEN1 is estimated to be approximately 1/10,000 to 1/30,000, while the total prevalence of MEN2 variants is approximately 1/35,000. MEN4 is extremely rare. The incidence of MEN1 has been estimated from random postmortem studies to be 0.25%, and to be 1-18% in patients with primary hyperparathyroidism, 16 to 38% in patients with gastrinomas, and less than 3% in patients with pituitary tumors. Clinical description Multiple endocrine neoplasia syndromes can develop in patients of all ages: from infants to elderly patients over 70 years of age.
See also [ edit ] Pseudobulbar Palsy Operculum Corticobulbar Tracts Wernicke's Aphasia Broca's Aphasia References [ edit ] ^ a b c d e f g h i j k l m n o Bakar, M; Kirshner, HS; Niaz, F (1998). ... ] [ non-primary source needed ] ^ a b c d e f g h i j k l Lekhjung, Thapa; Raju, Paudel; PVS, Rana (2010).
A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. Epidemiology Less than 150 cases have been described in the literature so far. Clinical description Foix-Chavany-Marie syndrome (FCMS) can occur at any age and patients present with acute-onset bilateral paresis of the facial, lingual, pharyngeal and masticatory muscles (innervated by the V, VII, IX, X and XII cranial nerves). However, the reflexive, emotional and automatic innervations of these muscles are preserved and smiling, crying or yawning under natural circumstances is possible. Facial appearance is atonic and the mouth is half open. Patients with FCMS have severe speech disturbances and most are mute.
It is expected that these numbers are lower than reality due to the difficulty of diagnosing and the healthcare available to underdeveloped countries in Asia and Africa . [2] [3] References [ edit ] ^ a b c d e f g h i j k l m n o p Heath, P T (2003). ... ISBN 978-1-55581-418-2 . ^ a b c d e f g h i j k Sivanandan, S., Soraisham, A.
Brain : A Journal of Neurology . 91 (2): 321–38. doi : 10.1093/brain/91.2.321 . PMID 5721933 . ^ a b c d e f g h Gersztenkorn, D; Lee, AG (Jul 2, 2014). ... PMID 16643588 . ^ a b c Belcastro, V; Cupini, LM; Corbelli, I; Pieroni, A; D'Amore, C; Caproni, S; Gorgone, G; Ferlazzo, E; Di Palma, F; Sarchielli, P; Calabresi, P (Jul 2011).
Typically life expectancy is unaffected in those with schwannomatosis. [3] History [ edit ] Descriptions of what is believed to be the condition go back as far back as the 1st century. [6] The conditions were formally described by Friedrich Daniel von Recklinghausen in 1882, after whom it was previously named. [4] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac "Neurofibromatosis Fact Sheet" . ... This article incorporates text from this source, which is in the public domain . ^ a b c d e f g h "Learning about Neurofibromatosis" .
Riccardi (1982) described cases of neurofibromatosis that are sufficiently variant that they seem to warrant separation from the classic von Recklinghausen NF I (162200), the acoustic neuroma type, NF II (101000), and the mixed type, NF III (162260). The group still is undoubtedly heterogeneous. Iris Lisch nodules, one of the most specific features of NF I, are usually absent in NF IV. The importance of a separate category for these cases is related to the probable difference in prognosis and genetic counseling and the desirability of avoiding confusion of studies of the natural history and pathogenesis of NF I. Eyes - Iris Lisch nodules usually absent Inheritance - Autosomal dominant - heterogeneous Skin - Atypical neurofibromatosis ▲ Close
As in humans, it may be seen as a side effect to the use of ciclosporin . [25] References [ edit ] ^ a b c d e f g h Newman MG, Takei HH, Klokkevold PR, Carranza FA, eds. (2012). ... Paul; McNeal, Donald; Smith, Robert G. (1994). "Hypertrophic Oral problems and genetic aspects of individuals with epilepsy".
Retrieved 21 December 2019 . ^ a b c d e f g h i j k l m n o p Ludlow, JT; Wilkerson, RG; Nappe, TM (January 2019). ... PMID 15892615 . ^ Powlson, David S.; Addiscott, Tom M.; Benjamin, Nigel; Cassman, Ken G.; De Kok, Theo M.; Van Grinsven, Hans; l'Hirondel, Jean-Louis; Avery, Alex A.; Van Kessel, Chris (2008).
Many other historical names for this condition (and Vincent's angina) have occurred, including: "acute membranous gingivitis", "fusospirillary gingivitis", " fusospirillosis", "fusospirochetal gingivitis", "phagedenic gingivitis", "Vincent stomatitis", "Vincent gingivitis", and "Vincent infection". [6] In the late 1980s-early 1990s, it was originally thought that some necrotizing periodontal diseases seen in severely affected AIDS patients were strictly a sequela of HIV , and it was even called HIV-associated periodontitis. [7] It is now understood that its association with HIV/AIDS was due to the immunocompromised status of such patients; it also occurs with higher prevalence in association with other diseases in which the immune system is compromised. [4] References [ edit ] ^ a b c d e f g h i j k Karring, edited by Jan Lindhe, Niklaus P. ... CS1 maint: extra text: authors list ( link ) ^ a b c d e f g h i j k l m Scully, Crispian (2008).
Primary Care . 43 (4): 677–691. doi : 10.1016/j.pop.2016.07.002 . PMID 27866585 . ^ a b c d e f g h i j k l m n Warsame R, Yanamandra U, Kapoor P (2017). ... PMID 28299525 . S2CID 31324035 . ^ a b c d e f g h i j k Dispenzieri A (2017). "POEMS syndrome: 2017 Update on diagnosis, risk stratification, and management" .
. ^ Velden, Vincent H. J. van der; Hoogeveen, Patricia G.; Ridder, Dick de; Struijk, Magdalena Schindler-van der; Zelm, Menno C. van; Sanders, Mathijs; Karsch, Dennis; Beverloo, H. ... Retrieved 2016-10-30 . ^ a b c d e f g h Dearden, Claire (2012-07-19). "How I treat prolymphocytic leukemia" .
A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.
If aggressive treatment is offered immediately and no complications arise (shock, AMI or arrhythmia, heart failure, aneurysm, carditis, embolism, or rupture), or they are dealt with quickly and fully contained, then adequate survival is still a distinct possibility. [ citation needed ] Epidemiology [ edit ] The frequency of tamponade is unclear. [8] One estimate from the United States places it at 2 per 10,000 per year. [3] It is estimated to occur in 2% of those with stab or gunshot wounds to the chest. [25] References [ edit ] ^ a b c d e f g h i j k Spodick, DH (Aug 14, 2003). ... The New England Journal of Medicine . 349 (7): 684–90. doi : 10.1056/NEJMra022643 . PMID 12917306 . ^ a b c d e f g h i j k l m n o Richardson, L (November 2014).
Reproductive Health Matters . 12 (24): 156–157. ^ a b c d e f g Hessini, Leila (2007). "Abortion and Islam: Policies and Practice in the Middle East and North Africa" . ... University of Tehran Journal of Social Science . 11 (22): 1–15. ^ a b c d e f g Erfani, Amir; Kevin McQuillan (2008).
Summary Clinical characteristics. Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits.
Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA , EDAR , or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather.
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms). Epidemiology HED has a prevalence of approximately 1/15,000. CST syndrome is the most frequent sub-type (80% of cases) with an incidence in males of 1/50,000 to 1/100,000 births. Clinical description HED is characterized by a triad of signs comprising sparse hair (atrichosis/hypotrichosis), abnormal (e.g. conical) or missing teeth (anodontia/hypodontia), and decreased or absent sudation due to a lack of sweat glands (anhidrosis/hypohidrosis) which leads to heat intolerance and may cause recurrent, potentially life-threatening hyperthermic episodes. The skin is thin, dry and eczematous with regional hyperkeratosis. Most of the patients suffer from ''dry eye'' problems (e.g. chronic conjunctivitis, blepharitis), nasopharyngeal dryness and asthma-like symptoms.
Atrial fibrillation often occurs (30% within 5 years) after catheter ablation for atrial flutter. [1] References [ edit ] ^ a b c d e f g h i j k l Sawhney, NS; Anousheh, R; Chen, WC; Feld, GK (February 2009). ... PMID 18325846 . ^ Kirkland, S; Stiell, I; AlShawabkeh, T; Campbell, S; Dickinson, G; Rowe, BH (July 2014). "The efficacy of pad placement for electrical cardioversion of atrial fibrillation/flutter: a systematic review".
Overview In atrial flutter, the heart's upper chambers (atria) beat too quickly. This causes the heart to beat in a fast, but usually regular, rhythm. Atrial flutter is a type of heart rhythm disorder ( arrhythmia ) caused by problems in the heart's electrical system. Atrial flutter is similar to atrial fibrillation , a common disorder that causes the heart to beat in irregular patterns. People with atrial flutter have a heart rhythm that's more organized and less chaotic than that of atrial fibrillation.
Prompt urethral catheterization usually resolves the problem. [16] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab "Urinary Retention" . ... European Journal of Emergency Medicine . 23 (2): 80–8. doi : 10.1097/MEJ.0000000000000334 . PMID 26479738 . ^ a b c d e f g h i Kowalik, Urszula; Plante, Mark K.
Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. Epidemiology Annual incidence is estimated at 1/1,000,000 with female predominance. Clinical description The disease is usually diagnosed after the age of 40. In 30 to 50% of cases, patients present with progressive abdominal distension (so-called ``jelly belly''). Diagnosis may follow discovery of an ovarian mass in women or recent development of inguinal hernia, appendicitis or intestinal occlusion.
Pseudomyxoma peritonei (PMP) is a rare disease characterized by the presence of mucin in the abdominal ( peritoneal ) cavity. While the most common cause of PMP is appendix cancer , several types of tumors (including non-cancerous tumors) can cause PMP. Signs and symptoms may include an increase in abdominal size or bloating; inguinal hernia (in men); an ovarian mass that may be felt during a routine pelvic exam (in women); pain or discomfort in the abdomen; and/or appendicitis . Treatment depends on the underlying cause of the condition (the location and type of the original tumor, including whether it is malignant ) and the extent of spreading. A combination of cytoreductive surgery and hyperthermic intraperitoneal chemotherapy is often the most successful treatment.
Cranial MRI shows increased signal in the hippocampus . [9] Cerebral spinal fluid (CSF) shows normal protein, glucose , white blood cell , and immunoglobulin G (IgG) levels, but there are weak oligoclonal bands , which are absent in the blood serum . ... Other fatalities without remission have been described by, amongst others, Morvan himself. [2] References [ edit ] ^ a b c d e f Lee, E K; R A Maselli; W G Ellis; M A Agius (1998-06-15). "Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma" .
Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.
PMC 3059138 . PMID 21325651 . ^ a b c d e f g Bonner, M.F.; Ash, S.; Grossman, M. ... Warren, "Relatively preserved knowledge of music in semantic dementia," Journal of Neurology, Neurosurgery & Psychiatry 80, no. 7 (2009): doi:10.1136/jnnp.2008.153130. Further reading [ edit ] Gliebus, G. (March 2010). "Primary progressive aphasia: clinical, imaging, and neuropathological findings".
A number sign (#) is used with this entry because this form of frontotemporal dementia (FTD) is caused by mutation in the gene encoding microtubule-associated protein tau (MAPT; 157140) on chromosome 17q21. Most cases are caused by heterozygous mutation, although rare homozygous mutations have been reported. Description Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition.
A number sign (#) is used with this entry because Pick disease, which belongs to a class of neurodegenerative disorders known as frontotemporal dementias (FTD; see 600274), can be caused by heterozygous mutation in the MAPT gene (157140) on chromosome 17q21. Some cases of Pick disease are caused by heterozygous mutation in the presenilin-1 gene (PSEN1; 104311) on chromosome 14q24. Description Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease.
Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
