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MASS Syndrome

Overlapping Connective Tissue Disease


Presentation

  • Abstract A 15-year-old girl with the "MASS" phenotype (meeting several of the minor criteria for Marfan syndrome) presents with a new onset low-pressure postural headache.[ncbi.nlm.nih.gov]
  • Therefore, physicians caring for children with Down syndrome should be familiar with the presenting features of AML.[pediatrics.aappublications.org]
  • Orphan drug(s) (0) Research activities on this disease Research projects (0) Clinical trials (0) Registries/biobanks (0) Networks (0) Network of experts (0) Specialised Social Services Eurordis directory The documents contained in this web site are presented[orpha.net]
  • At present it has been assigned no separate MIM number, but shares that of the Barlow syndrome [MIM*157700]. [ m itral valve prolapse, a ortic anomalies, s keletal changes, and s kin changes.][medical-dictionary.thefreedictionary.com]
  • In addition, there will be presentations that will appeal to educators, medical professionals, and siblings of individuals with Down syndrome.[globenewswire.com]
Abdominal Obesity
  • Skeletal muscle insulin resistance in young healthy subjects could promote atherogenic dyslipidemia at the early stage of MetS independent of intra-abdominal obesity and adipokines [28].[journals.plos.org]
El Salvador
  • El Salvador was a “playground” for U.S.-backed death squads at about the same time the rape of Nicaragua took place under Reagan.[counterpunch.org]
Blue Eyes
  • Some people might say that beyond her engaging blue eyes, silky blonde hair and easy, joy-filled smile, God gave Kara something extra that makes her and her venture both extraordinary and heartwarming. “Kara is special,” said Archbishop Joseph E.[tektonministries.org]
  • If someone tried to do that today -- if you had a blonde haired, blue eyes guy who made all women wear a certain outfit, and wouldn't let women drive, and they weren't allowed to have rights -- How many people would stand up for him?"[realclearpolitics.com]
Blonde Hair
  • Some people might say that beyond her engaging blue eyes, silky blonde hair and easy, joy-filled smile, God gave Kara something extra that makes her and her venture both extraordinary and heartwarming. “Kara is special,” said Archbishop Joseph E.[tektonministries.org]
  • If someone tried to do that today -- if you had a blonde haired, blue eyes guy who made all women wear a certain outfit, and wouldn't let women drive, and they weren't allowed to have rights -- How many people would stand up for him?"[realclearpolitics.com]
Fracture
  • We report the occurrence of a severe brachial plexopathy as a late complication of a displaced midclavicular fracture.[ncbi.nlm.nih.gov]
  • Bone loss with pathologic fractures can occur. Many patients with Cushing's experience skin changes, including thinning, fragility, easy bruising and striae (wide, purple stretch marks).[pituitary.mgh.harvard.edu]
Round Face
  • Cushing's Disease (ACTH secreting adenoma) Symptoms vary, but most people have central (upper body) obesity, rounded face, increased fat around the neck, and thinning arms and legs. Children tend to be obese with slowed growth rates.[pituitary.mgh.harvard.edu]
Tremor
  • Three months before admission, a tremor developed in his hands. One month later, bouts of tachycardia. ..[nejm.org]
Ataxia
  • Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia[en.wikipedia.org]

Workup

Treatment

  • […] the same treatment plans as those with Marfan syndrome.Other possible symptoms are mitral valve prolapse, a large aortic root diameter, and myopia.[en.wikipedia.org]
  • Epidemiologic mass treatment refers to treatment of whole communities (mass treatment) or high-risk subgroups within communities (targeted presumptive treatment) based on high STD prevalence rates.[journals.lww.com]
  • The pathophysiology and treatment of spontaneous intracranial hypotension are discussed.[ncbi.nlm.nih.gov]
  • Treatment is based on the individualÕs symptoms. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org]
  • Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. There is no cure for Marfan syndrome. Treatment is based on which organs are affected.[massgeneral.org]

Prognosis

  • As for the prognosis, based on longer series, 5 the most important factors to keep in mind are the state of the disease and tumor histology.[archbronconeumol.org]
  • Notwithstanding, except for the risk of pulmonary embolism, the long-term prognosis of BD patients with intracardiac thrombi seems to be good as long as they receive only medical management. Financial support None.[scielo.org.mx]
  • Aoyama TFrancke UGasner CFurthmayr H Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Am J Med Genet. 1995;58169- 176 Google Scholar Crossref 14.[doi.org]
  • Long-term prognosis is not known. Other features include joint laxity, easy bruising, functional bowel disorders, osteoporosis, and chronic pain. Diagnostic criteria Diagnosis is based on clinical evaluation and family history.[nature.com]

Etiology

  • […] through laboratory diagnosis to determine the etiologic agent(s).[journals.lww.com]
  • Additional diagnostic testing, usually imaging and biopsy, is indicated to determine etiology. CT with IV contrast is the most valuable imaging technique.[merckmanuals.com]
  • […] the brainstem to the superior cervical ganglion in the neck postganglionic : involves the third order neuron that ascends along the internal carotid artery to enter the cavernous sinus, where it joins the ophthalmic division of the trigeminal nerve Etiology[radiopaedia.org]
  • Etiological possibilities include intrathoracic malignant tumor, which is responsible for 60%–85% of cases.[archbronconeumol.org]
  • For example, a family history of aortic aneurysms and mild thoracic-cage abnormalities, with no one meeting criteria for MFS, warrants a label of familial aortic aneurysm (although that implies little about etiology).[doi.org]

Epidemiology

  • Definitions and Rationale Epidemiologic Mass Treatment Epidemiologic treatment is the presumptive treatment of individuals or populations with a high likelihood of having disease.[journals.lww.com]
  • You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message[orpha.net]
  • The case also has a natural history and epidemiological features that fit a mass psychogenic illness. Let the media frenzy begin In a perfect world that would be the end of this story.[sciencebasedmedicine.org]
  • Blankenberg S, Luc G, Ducimetiere P, Arveiler D, Ferrieres J, et al. (2003) Interleukin-18 and the risk of coronary heart disease in European men - The Prospective Epidemiological Study of Myocardial Infarction (PRIME). Circulation 108: 2453–2459.[journals.plos.org]
  • Circulation 2003; 108 : 2672–2678 37) Nugent AW, Daubeney PEF, Chondros P, et al: National Australian Childhood Cardiomyopathy Study: The epidemiology of childhood cardiomyopathy in Australia.[jpccs.jp]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology and treatment of spontaneous intracranial hypotension are discussed.[ncbi.nlm.nih.gov]
  • The genetic basis of the syndrome is fully considered, and all aspects of the pathophysiology of IGF-I deficiency are described. Data derived from the recently generated mouse model of LS are reviewed and compared with the human LS experience.[books.google.com]
  • Introduction Growing evidence suggests a pivotal role of chronic subclinical inflammation in the pathophysiology of cardio-metabolic disorders [1].[journals.plos.org]

Prevention

  • […] respiratory syndrome coronavirus (MERS - CoV) Also available in Arabic Chinese French Russian Spanish Overview This document presents organizers and hosts of international mass gatherings with proposed steps to improve public health preparedness to prevent[who.int]
  • A few studies suggest that provision of quality STD treatment and prevention education for sex workers can have a positive effect on adoption of condom use-a prevention-care synergy 25,88,89 that could help prepare for a "maintenance phase" once high[journals.lww.com]
  • The Mass Down Syndrome Congress has been successful in getting four laws passed over the past five years, including one that prevents people with disabilities who are on organ transplant waiting list, from being discriminated against. 2019 Cox Media Group[fox25boston.com]
  • Prince Charming’s strength is prevented from becoming naked aggression by the governing hand of moral purpose.[masshumanities.org]
  • Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery may be at increased risk for bacterial endocarditis.[webmd.com]

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