Measuring beta-hexosaminidases A and B in both leukocytes and serum, they identified 35 carriers among 244 random Maronite samples and 15 among 28 Maronites with a family history of Sandhoff disease, but only 1 carrier out of 115 random samples from the Greek community.
The first patient had progressive muscle weakness and atrophy with a residual phosphorylase enzyme activity of 28%. The second patient had typical McArdle disease, clinically and biochemically.
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance. Epidemiology Prevalence is unknown. Clinical description Onset occurs in childhood. Patients present with a syndrome of muscular exercise intolerance with myalgia, cramps, fatigue, and muscle weakness. Massive elevation of creatine-kinase and rhabdomyolysis with myoglobinuria (dark urine) after exercise is noted in around 50% of patients, potentially leading to acute kidney failure. A 'second wind' phenomenon with relief of myalgia and fatigue after a few minutes of rest is observed in many patients.
"A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients" . Hum. Mutat . 28 (2): 203–4. doi : 10.1002/humu.9474 .
Summary Clinical characteristics. Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age.
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind").
Glycogen storage disease type 5 (GSDV) is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Usually, when people with this disease rest after brief exercise they can resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). The signs and symptoms can vary significantly and may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness.
Secondly, the juvenile individuals with FP might die before reaching adulthood. [9] Prognosis [ edit ] The tumours appear to be benign and can be present for many years, but if large, can mechanically hamper sight, swallowing, and swimming, which may ultimately be fatal. [1] While external tumours hamper movement and sight, internal tumours interfere with system functioning, another potentially fatal factor. [1] As the tumours progress, individuals with large numbers of tumours may become anaemic , have a lack of proteins and iron, and in more advanced stages even suffer from acidosis caused by imbalanced calcium/phosphorus ratios and severe emaciation . [1] Other species [ edit ] Fibropapillomas are present in other animal groups, but are caused by different viruses, for example the bovine papillomavirus . [7] History [ edit ] The first documented case of the disease was in 1938 in Key West, Florida. [1] Long-term studies found no signs of the disease on Florida's Atlantic coast in the 1970s, but during the 1980s FP was recorded in incidences varying from 28–67%. [1] Today, incidences as high as 92% have been reported in Kaneohe Bay, Oahu, Hawaii.
The aquarium treated its affected sea stars with antibiotics in 2014, which proved effective. [27] Although a mechanism is still unknown, evidence suggests that a single mutation in the elongation factor 1-alpha locus in Pisaster ochraceus may be associated with reduced mortality. [28] Species affected [ edit ] Most affected (high mortality rates) : Solaster dawsoni (morning sun star), Pisaster brevispinus (giant pink star), Pisaster ochraceus (ochre/purple star), Pycnopodia helianthoides (sunflower star), Evasterias troschelii (mottled star), Affected (some mortality) : Dermasterias imbricata (leather star), Solaster stimpsoni (striped sun star), Orthasterias koehleri (rainbow star), Henricia spp.
After examining the same tissue using electron microscopy, he was able to identify the presence of silicon, aluminum, and other soil metals both in the phagosomes of macrophages and adhered to the surface of lymphocytes. [24] Price demonstrated that the lymphatic vessels of these patients experienced subendothelial edema and eventual collagenization of the lumen leading to complete blockage. [12] Dr Ernest W Price wrote a monograph on Podoconiosis which was published after his death in 1990. [25] Current situation [ edit ] Podoconiosis is now recognised as one of the WHO Neglected Tropical Diseases , [26] its importance as a public health problem is well recognised in Ethiopia. [27] Footwork [28] is a charity which bring together public and private partners to support prevention and treatment of podoconiosis.
A member of Goliath's family is also described as having six digits on each hand and each foot. [28] See also [ edit ] Acromegaly Deep-sea gigantism Dwarfism Giant of Castelnau Growth hormone Homo heidelbergensis Hypothalamic–pituitary–somatic axis Island gigantism List of humans with gigantism List of tallest people Local gigantism Marfan syndrome Megafauna Nephilim Overgrowth syndrome References [ edit ] ^ https://www.healthline.com/health/gigantism#causes ^ " Gigantism " at Dorland's Medical Dictionary ^ "Gigantism | UCLA Pituitary Tumor Program" . pituitary.ucla.edu .
Gigantism is abnormally large growth due to an excess of growth hormone (GH) during childhood, before the bone growth plates have closed (epiphyseal fusion). It causes excessive growth in height, muscles, and organs, making the child extremely large for his or her age. Other symptoms may include delayed puberty ; double vision or difficulty with side (peripheral) vision; prominent forehead ( frontal bossing ) and a prominent jaw; headache; increased sweating ( hyperhidrosis ); irregular periods; large hands and feet with thick fingers and toes; thickening of the facial features; and weakness. It may begin at any age before epiphyseal fusion. The most common cause is a non-cancerous (benign) tumor of the pituitary gland , which may cause it to make too much GH, but it can be caused by other underlying conditions (which may cause a pituitary tumor) including Carney complex ; McCune-Albright syndrome ; Multiple endocrine neoplasia type 1 (MEN-1) and type 4 ; and Neurofibromatosis . In some cases the disease is caused by mutations in the GPR101 gene .
A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet. Epidemiology The epidemiology of pituitary gigantism is unknown. Among acromegaly populations, pediatric and adolescent onset cases are rare (<5%). Clinical description Disease onset is from early infancy to late adolescence as long as the epiphyseal growth plates remain open. Pituitary gigantism is associated with excessive height (>2 standard deviations over the population mean) and growth velocity.
Replenishing the deficit of dopamine with levodopa has been shown to initially improve extrapyramidal symptoms , [27] [28] [29] but the response to treatment goes down after 2 or 3 years, [30] with worsening condition of the same patients noted even after 10 years since last exposure to manganese. [31] Enhanced excretion of manganese prompted by chelation therapy brings its blood levels down but the symptoms remain largely unchanged, raising questions about efficacy of this form of treatment. [32] [33] Increased ferroportin protein expression in human embryonic kidney (HEK293) cells is associated with decreased intracellular manganese concentration and attenuated cytotoxicity, characterized by the reversal of Mn-reduced glutamate uptake and diminished lactate dehydrogenase (LDH) leakage. [3] Epidemiology [ edit ] The Red River Delta near Hanoi has high levels of manganese or arsenic in the water.
A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.
An alternative model proposes a perspective on dissociation based on a recently established link between a labile sleep–wake cycle and memory errors, cognitive failures, problems in attentional control, and difficulties in distinguishing fantasy from reality." [28] See also [ edit ] Complex post-traumatic stress disorder References [ edit ] ^ Simeon, D; Abugel, J (2006).
Overview Dissociative disorders are mental disorders that involve experiencing a disconnection and lack of continuity between thoughts, memories, surroundings, actions and identity. People with dissociative disorders escape reality in ways that are involuntary and unhealthy and cause problems with functioning in everyday life. Dissociative disorders usually develop as a reaction to trauma and help keep difficult memories at bay. Symptoms — ranging from amnesia to alternate identities — depend in part on the type of dissociative disorder you have. Times of stress can temporarily worsen symptoms, making them more obvious.
Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. "Classic Eagle syndrome" is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling of something stuck in the throat, tinnitus , and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery).
Otherwise, high arches may be handled with care and proper treatment. [ citation needed ] Suggested conservative management of patients with painful pes cavus typically involves strategies to reduce and redistribute plantar pressure loading with the use of foot orthoses and specialised cushioned footwear. [26] [27] Other non-surgical rehabilitation approaches include stretching and strengthening of tight and weak muscles, debridement of plantar callosities, osseous mobilization, massage, chiropractic manipulation of the foot and ankle, and strategies to improve balance. [28] There are also numerous surgical approaches described in the literature that are aimed at correcting the deformity and rebalancing the foot.
This online campaign also drew great attention from US and Chinese mainstream media, about Zhu Ling's family and the cold case. [13] [14] [15] On July 28, 2015, the White House declined comment on the petition, saying "Zhu Ling's poisoning in 1995 was a tragedy.
(reference 27) Hypermagnesmia is a condition where the balance of magnesium in the body is unstable and concentrations are higher than normal baseline values.(reference 28) Congenital [ edit ] Congenital syndromes affecting the neuromuscular junction are considered a very rare form of disease, occurring in 1 out of 200,000 in the United Kingdom.
"A systematic review of measures for reducing injection pain during adult immunization". Vaccine . 28 (6): 1514–1521. doi : 10.1016/j.vaccine.2009.11.065 .
Certainly, females are more likely to seek proximity to dominant males. [26] In many rodent species, males kill unrelated young ; pregnancy block may avoid the wasted investment of gestating offspring likely to be killed at birth. [5] [27] The Bruce effect is most common in polygynous rodent species, for which the risk of infanticide is highest. [28] See also [ edit ] Coolidge effect Lee–Boot effect Vandenbergh effect Whitten effect References [ edit ] ^ a b Heske, E.
The 2018 review makes no mention of chromium supplementation as a possible treatment. [25] Supplementation [ edit ] Chromium supplementation in general is subject to a certain amount of controversy as it is by no means clear that chromium is an essential element in human biology. [26] Nevertheless, chromium is an ingredient in total parenteral nutrition , along with other trace minerals. [20] It is also in nutritional products for preterm infants . [27] Many chromium-containing products, including chromium chloride , chromium citrate , chromium(III) picolinate , chromium(III) polynicotinate are sold as non-prescription dietary supplements. [28] Government-approved health claims [ edit ] In 2005, the U.S.
