"N-acylation of glucosamine modulates chondrocyte growth, proteoglycan synthesis, and gene expression". J. Rheumatol . 32 (9): 1775–86. PMID 16142878 . ^ "Friday Find: Animal Assistance Products-For Pets Who Need a Little Extra Support" .
The proband's deceased paternal grandfather was similarly affected and had full dentures by age 42 years; he had severe shin bruising but no joint pain, laxity, or dislocations. The proband's 86-year-old great-grandfather began losing teeth in his early teens; he never had shin bruising or joint problems, and had normal scarring.
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Clinical description EDS type VIII is the rarest form of EDS and is characterized by severe early-onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars). The periodontitis is generalized with early-onset (appearing at puberty) and may lead to loss of teeth before 30 years of age, and alveolar bone deterioration. The joint hyperlaxity and cutaneous hyperelasticity are variable. Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection. Etiology The syndrome appears to be genetically heterogeneous. However, analysis of several patients has led to the identification of a potential gene locus on chromosome 12p13.
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome periodontal type 2 (EDSPD2) is caused by heterozygous mutation in the C1S gene (120580) on chromosome 12p13. For a general phenotypic description and discussion of genetic heterogeneity of EDSPD, see EDSPD1 (130080). Clinical Features Kapferer-Seebacher et al. (2016) studied 2 families with Ehlers-Danlos syndrome and periodontitis. In the first family (family 16), the 45-year-old female proband exhibited mild elastic skin, easy bruising, fragile skin with pretibial discoloration, and early-onset periodontitis resulting in tooth loss in her teens. Her father, 1 sister and 1 brother, and 2 of her sons had a similar phenotype.
Allergic eye disease Illustration of allergic conjunctivitis Specialty Ophthalmology , allergology Allergic conjunctivitis ( AC ) is inflammation of the conjunctiva (the membrane covering the white part of the eye) due to allergy . [1] Although allergens differ among patients, the most common cause is hay fever .
on NPR v t e Superstition Main topics Amulet Evil eye Luck Omen Talismans Myth and ritual Lists List of superstitions List of lucky symbols List of bad luck signs Sailors' superstitions Theatrical superstitions Africa Buda Gris-gris Sampy Sleeping child Americas Ascalapha odorata Carranca Cooties Curupira Djucu Fortune cookie Groundhog Day I'noGo tied Oscar love curse Susto White lighter myth Witch window Asia Superstition in India Superstition in Pakistan Japanese superstitions Bhoot (ghost) Chhaupadi Churel Ghosts in Bengali culture Jackal's horn Kuai Kuai culture Muhurta Navaratna Nazar battu Pichal Peri Puppy pregnancy syndrome Akabeko Kanai Anzen Maneki-neko Okiagari-koboshi Omamori Fan death Agimat Arbularyo Barang Kulam Lihi Pagtatawas Pasma Usog Kuman Thong Palad khik Takrut Nang Kwak White elephant Curse of 39 Jin Chan Numbers in Chinese culture Superstitions of Malaysian Chinese Europe August curse Barbary macaques in Gibraltar Bayern-luck Blarney Stone Cimaruta Cornicello The Goodman's Croft Himmelsbrief Icelandic magical staves In bocca al lupo Kitchen witch Klabautermann Mooncalf Nazar Need-fire Painted pebbles Powder of sympathy Rabbit rabbit rabbit Ravens of the Tower of London Russian traditions and superstitions Spilling water for luck The Scottish Play Troll cross Tycho Brahe days Witch post Wolfssegen General 11:11 4 ( Four-leaf clover , Tetraphobia ) 7 ( Seventh son of a seventh son ) 8 9 13 ( Friday the 13th , The Thirteen Club , Thirteenth floor , Triskaidekaphobia ) 108 111 666 ( Number of the Beast ) Ace of spades Auspicious wedding dates Baseball superstition Beginner's luck Black cat Bread and butter Break a leg Chain letter Cramp-ring Curse Davy Jones' Locker Dead man's hand End-of-the-day betting effect Fear of frogs Fear of ghosts First-foot Flying Dutchman Four Eleven Forty Four Gambler's conceit Good luck charm Human sacrifice Jinx Knocking on wood Law of contagion Literomancy Lock of hair Maternal impression Miasma theory Nelson Numismatic charm Penny Rabbit's foot Rainmaking Ship sponsor Shoes on a table Sign of the horns Something old Spilling salt Statue rubbing Three on a match Threshold Toi toi toi 27 Club Wishing well Witch ball Witching hour Related Apotropaic magic Astrology and science Coincidence Debunker Divination Folk religion Fortune-telling Magic and religion Magical thinking Numerology Perceptions of religious imagery in natural phenomena Post hoc ergo propter hoc Traditional medicine Urban legend Jew Muslim
(reference 7) Important observations were made by Patrick and Lindstrom in 1973 when they found that antibodies attacking the acetylcholine receptors were present in around 85% of cases of myasthenia gravis.(reference renamed form 13)(reference 36) The remaining diseases were also a result of antibody attacks on vital proteins, but instead of the acetylcholine receptor, the culprits were MuSK, a muscle-specific serum kinase, and lipoprotein receptor-related protein.
Serum creatine kinase levels exceeded upper normal limits by 70- to 85-fold. Both girls had a normal karyotype, and the clinical picture was indistinguishable from that of the X-linked form.
Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies , which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities. LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner.
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
However, in a later study by the ESDN the proportion of MED caused by pathogenic variants in COMP increased to 81% when a strict clinical-radiographic review was undertaken before molecular genetic testing was performed [Zankl et al 2007].
Contents 1 History 2 Psychological aspects 3 Types of exposure 3.1 Streaking 3.1.1 History 3.1.2 Definitions and etymology 3.1.3 On college campuses 3.1.4 In sport 3.1.5 In popular culture 3.1.6 Records 4 See also 5 References 6 External links History [ edit ] Women "flashing", or publicly exposing their bare breasts, at Woodstock Festival Poland , 2011 Public exhibitionism by women has been recorded since classical times, often in the context of women shaming groups of men into committing, or inciting them to commit, some public action. [2] The ancient Greek historian Herodotus gives an account of exhibitionistic behaviors from the fifth century BC in The Histories . Herodotus writes that: When people travel to Bubastis for the festival, this is what they do.
Oliveira et al. (2008) identified 18 different mutations in the LAMA2 gene, including 14 novel mutations, in 50 (96%) of 52 disease alleles in all 26 patients with a clinical presentation suggestive of MDC1A.
Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. Epidemiology MCD1A represents 30-40% of congenital muscular dystrophies, with some regional variation. Prevalence is estimated at 1/30,000. Clinical description The disease presents at birth or in the first few months of life with hypotonia and muscle weakness in the limbs and trunk. Respiratory and feeding disorders can also occur. Motor development is delayed and limited (sitting or standing is only possible with help). Infants present with early rigidity of the vertebral column, scoliosis, and respiratory insufficiency.
LAMA2 -related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form. Early-onset LAMA2 -related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures).
Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by homozygous or compound heterozygous mutation in the LAMA2 gene (156225) on chromosome 6q22. Biallelic mutation in the LAMA2 gene can also cause congenital muscular dystrophy (MDC1A; 607855), which has overlapping but more severe features. Description Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Age at onset generally ranges from childhood to mid-adulthood. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features, with partial LAMA2 deficiency on muscle biopsy. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy.
., Ovarian function in Duarte galactosemia. Fertil Steril, 2011. 96(2): p. 469-473 e1. PMID 21719007 ^ a b Ficicioglu, C., et al., Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition.
The largest risks for PTS are having an altered level of consciousness for a protracted time after the injury, severe injuries with focal lesions, and fractures. [8] The single largest risk for PTS is penetrating head trauma , which carries a 35 to 50% risk of seizures within 15 years. [2] If a fragment of metal remains within the skull after injury, the risk of both early and late PTS may be increased. [5] Head trauma survivors who abused alcohol before the injury are also at higher risk for developing seizures. [4] Occurrence of seizures varies widely even among people with similar injuries. [5] It is not known whether genetics play a role in PTS risk. [11] Studies have had conflicting results with regard to the question of whether people with PTS are more likely to have family members with seizures, which would suggest a genetic role in PTS. [11] Most studies have found that epilepsy in family members does not significantly increase the risk of PTS. [5] People with the ApoE-ε4 allele may also be at higher risk for late PTS. [1] Risks for late PTS include hydrocephalus , reduced blood flow to the temporal lobes of the brain, [1] brain contusions , subdural hematomas , [5] a torn dura mater , and focal neurological deficits . [9] PTA that lasts for longer than 24 hours after the injury is a risk factor for both early and late PTS. [1] Up to 86% of people who have one late post-traumatic seizure have another within two years. [5] See also [ edit ] Complications of traumatic brain injury References [ edit ] ^ a b c d e f g h Tucker GJ (2005). "16: Seizures".
Retrospectively, these patients will often report some difficulty in their medical or educational history. [13] BFPP patients demonstrate mental retardation, language impairment, motor developmental delay, and seizure disorders such as epilepsy. [14] The association of epilepsy is in approximately 50% to 85% of affected BFPP patients. The clinical manifestations of polymicrogyria are stable neurologic deficits: In the mildest form , polymicrogyria is unilateral with only one small region of the brain involved; neurologic problems may not be evident.
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
A number sign (#) is used with this entry because bilateral frontoparietal polymicrogyria (BFPP) is caused by homozygous mutation in the ADGRG1 gene (604110) on chromosome 16q21. Mutation in a cis-regulatory region of ADGRG1 causes bilateral perisylvian polymicrogyria (BPPR; 615752). See also unilateral polymicrogyria (610031). Clinical Features In 2 sisters, aged 7 and 10 years, Harbord et al. (1990) described developmental delay and a nonprogressive cerebellar ataxia with similar neurophysiologic and neuroradiologic findings of an extensive neuronal migration defect. There were no dysmorphic features, metabolic abnormalities, chromosomal defects or evidence of prenatal environmental toxins. Harbord et al. (1990) considered that these sibs had an autosomal recessive neuronal migration defect that had not previously been recorded.
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia , strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.