In a study conducted for Puerto Rican Governor Calderon, 48 of the 50 Vieques residents tested were diagnosed as suffering from a thickening of heart tissue caused by exposure to sonic booms. [2] Simultaneously, the Ponce School of Medicine conducted an independent study and found other data to confirm the presence of vibroacoustic disease: 79% of Viequenses fishermen have thickened heart tissue, which is the main symptom of vibroacoustic disease. [2] The federal Agency for Toxic Substances & Disease Registry reviewed Ponce School of Medicine study and concluded in 2001 that the Vieques heart study failed to provide any "clinically significant" evidence of heart disease. [6] See also [ edit ] Havana syndrome References [ edit ] ^ Castel-Branco (March 1999). ... US scientist identifies 'wind turbine syndrome' - Noise and vibration coming from large turbines are behind an increase in heart disease, migraine, panic attacks and other health problems, according to research by an American doctor" .
A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.
Although pulmonary arterial hypertension often occurs on its own, it can also be part of syndromes that affect many parts of the body. For example, this condition is occasionally found in people with systemic scleroderma, systemic lupus erythematosus, critical congenital heart disease, or Down syndrome. Researchers have also identified nongenetic factors that increase the risk of developing pulmonary arterial hypertension.
Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1 , BMPR1 , CAV1 , ENG and SMAD9 and CBLN2 . (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .
Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.
She walked at age 18 months, but later developed truncal hypotonia, progressive cerebellar ataxia, and pyramidal syndrome, resulting in the loss of ambulation at age 9 years. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Nystagmus ABDOMEN Gastrointestinal - Swallowing difficulties SKELETAL Feet - Pes cavus MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed walking - Delayed speech - Dysarthria - Cerebellar ataxia - Pyramidal syndrome - Dysmetria - Spasticity of the lower limbs - Loss of ability to walk - Cerebellar atrophy - Cerebral atrophy - Thin corpus callosum - Iron accumulation in deep brain regions and in the globus pallidi MISCELLANEOUS - Progressive disorder - Two French sisters have been reported (last curated March 2018) MOLECULAR BASIS - Caused by mutation in the RALBP1-associated EPS domain-containing protein 1 gene (REPS1, 614825.0001 ) ▲ Close
He was originally diagnosed with Stuve-Wiedemann syndrome (601559), but his symptoms later became more consistent with a diagnosis of OI, with 4 spontaneous fractures and vertebral collapses in the first 2 years of life. ... Molecular Genetics In an Italian boy who exhibited features of Stuve-Wiedemann syndrome but was negative for mutation in the LIFR gene (151443), and who later developed symptoms consistent with OI, Doyard et al. (2018) performed exome sequencing and identified homozygosity for a frameshift mutation in the FAM46A gene (611357.0001).
Two patients in 1 family had childhood-onset constipation-dominant irritable bowel syndrome and 2 patients had peripheral vasoconstriction when exposed to cold. ... INHERITANCE - Autosomal dominant ABDOMEN Gastrointestinal - Irritable bowel syndrome, constipation-dominant (in some patients) NEUROLOGIC Central Nervous System - Mirror movements, involuntary, usually of the upper limb and hand - Difficulties in fine bimanual activities - Abnormal corticospinal tract decussation MISCELLANEOUS - Onset in early childhood - Three unrelated families have been reported (last curated December 2018) MOLECULAR BASIS - Caused by mutation in the netrin 1 gene (NTN1, 601614.0001 ) ▲ Close
The International Association of the Study of Pain's (IASP) definition of hyperpathia is that: A painful syndrome characterized by an abnormally painful reaction to a stimulus, especially a repetitive stimulus, as well as an increased threshold. ... Pain Supplement 3: Classification of Chronic Pain, Descriptions of Chronic Pain Syndromes and Definitions of Pain Terms.
A number sign (#) is used with this entry because of evidence that insulinomatosis and diabetes mellitus syndrome (INSDM) is caused by heterozygous mutation in the MAFA gene (610303) on chromosome 8q24. Description Insulinomatosis and diabetes mellitus syndrome is an autosomal dominant disorder in which affected individuals within a family present with either hyperinsulinemic hypoglycemia secondary to pancreatic neuroendocrine tumors, or a noninsulin-dependent form of diabetes mellitus.
External links [ edit ] Classification D ICD - 10 : H83.1 ICD - 9-CM : 386.4 DiseasesDB : 32218 External resources eMedicine : emerg/414 http://www.dizziness-and-balance.com/disorders/unilat/fistula.html v t e Disorders of hearing and balance Hearing Symptoms Hearing loss Excessive response Tinnitus Hyperacusis Phonophobia Disease Loss Conductive hearing loss Otosclerosis Superior canal dehiscence Sensorineural hearing loss Presbycusis Cortical deafness Nonsyndromic deafness Other Deafblindness Wolfram syndrome Usher syndrome Auditory processing disorder Spatial hearing loss Tests Hearing test Rinne test Tone decay test Weber test Audiometry pure tone visual reinforcement Balance Symptoms Vertigo nystagmus Disease Balance disorder Peripheral Ménière's disease Benign paroxysmal positional vertigo Labyrinthitis Labyrinthine fistula Tests Dix–Hallpike test Unterberger test Romberg's test Vestibulo–ocular reflex
External links [ edit ] Classification D ICD - 9-CM : 264.1 v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight v t e Symptoms and signs relating to the eye Adnexa lacrimal : Schirmer's test eyelid : Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign Globe pupil : Argyll Robertson pupils Adie pupil Marcus Gunn pupil cornea : Fleischer ring Kayser–Fleischer ring Hudson–Stahli line iris : Brushfield spots Lisch nodule conjunctiva : Bitot's spots Arlt's line retina : Hollenhorst plaque Roth's spot Fuchs spot others: Alexander's law Hirschberg test Siegrist streaks This medical sign article is a stub .
Chorioangioma Other names Placental hemangioma Chorioangioma is a benign tumor of placenta . It is seen in approximately 0.5 to 1% pregnancies. [1] It is mostly diagnosed ultrasonically in the second trimester of pregnancy. Large chorioangiomas are known to cause complications in pregnancy, while the smaller ones are asymptomatic. Contents 1 Presentation 1.1 Complications 2 Pathogenesis 3 Diagnosis 4 Management 5 Prognosis 6 Epidemiology 7 History 8 References Presentation [ edit ] Complications [ edit ] Large or multiple chorioangiomas may lead to complications. The complications are polyhydramnios , preterm labour , hemolytic anemia , fetal cardiomegaly , fetal thrombocytopenia , intrauterine growth retardation , preeclampsia , abruption of placenta and congenital anomalies . [1] [2] Pathogenesis [ edit ] The origin of chorioangioma is from primitive chorionic mesenchyme .
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. ... Differential diagnosis The main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures, liver dysfunction or leukodystrophy.
A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.
A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.