. ^ Henschke, N; Mahe, CG; Ostelo, RW; de Vet, HCW; Macaskil, P; L (Feb 28, 2013). "Red flags to screen for malignancy in patients with low-back pain".
Overview Polyhydramnios (pol-e-hi-DRAM-nee-os) is the excessive accumulation of amniotic fluid — the fluid that surrounds the baby in the uterus during pregnancy. Polyhydramnios occurs in about 1 to 2 percent of pregnancies. Most cases of polyhydramnios are mild and result from a gradual buildup of amniotic fluid during the second half of pregnancy. Severe polyhydramnios may cause shortness of breath, preterm labor, or other signs and symptoms. If you're diagnosed with polyhydramnios, your health care provider will carefully monitor your pregnancy to help prevent complications. Treatment depends on the severity of the condition. Mild polyhydramnios may go away on its own.
They include: Acute disseminated encephalomyelitis Viral meningitis Multiple sclerosis Bell's palsy [4] Diagnosis is determined by clinical examination of visible symptoms. [5] Neuroborreliosis can also be diagnosed serologically to confirm clinical examination via western blot, ELISA, and PCR. [6] Treatment [ edit ] In the US, neuroborreliosis is typically treated with intravenous antibiotics which cross the blood–brain barrier , such as penicillins , ceftriaxone , or cefotaxime . [7] One relatively small randomized controlled trial suggested ceftriaxone was more effective than penicillin in the treatment of neuroborreliosis. [8] Small observational studies suggest ceftriaxone is also effective in children. [9] The recommended duration of treatment is 14 to 28 days. [10] [11] Several studies from Europe have suggested oral doxycycline is equally as effective as intravenous ceftriaxone in treating neuroborreliosis.
A number sign (#) is used with this entry because alacrima, achalasia, and mental retardation syndrome (AAMR) is caused by homozygous mutation in the GMPPA gene (615495) on chromosome 2q35. Description Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.
A number sign (#) is used with this entry because of evidence that the triple-A syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding aladin (AAAS; 605378) on chromosome 12q13. The association of adrenal and neurologic disease in the triple-A syndrome is similar to that in X-linked adrenoleukodystrophy (300100). See 200400 for a familial form of isolated achalasia. Clinical Features Allgrove et al. (1978) reported 2 pairs of sibs (3 boys and 1 girl) with glucocorticoid deficiency and achalasia of the stomach cardia. Three had defective tear formation (alacrima) and 1 showed other signs of autonomic dysfunction. Postmortem studies of 1 patient showed absence of the zona fasciculata and zona reticularis with almost normal zona glomerulosa.
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. Epidemiology Prevalence is unknown but less than 100 cases have been published since the first description in 1978. Clinical description The onset of Triple A syndrome varies between infancy and adulthood. When presenting in early childhood, alacrima and, possibly, achalasia are the indicative signs; in childhood and adolescence, onset is characterized by achalasia and adrenal insufficiency; while in adulthood, presentation is predominantly neurological with autonomous and polyneuropathic involvement. Alacrima, when present, is the first clinical sign, manifesting in the first months of life, but achalasia of the cardia, leading to dysphagia, is usually the first relevant symptom leading to diagnosis.
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus , the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands ). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin.
Triple A syndrome is an inherited condition characterized by three specific features: achalasia , Addison disease , and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension . Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy .
Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages. Epidemiology Annual incidence in Europe is 1/62,000 people. It accounts for 40% of testicular cancer cases. Clinical description Seminoma usually presents in males between the ages of 30-40. A painless mass in the scrotum is indicative of disease. A long-standing hydrocele may be noted causing a feeling of heaviness in the testicle. Gynecomastia and back and flank pain are symptoms that are seen in some patients.
Elleuch et al. (2006) reported a Moroccan family in which 4 sibs had SPG7. Age at onset ranged from 28 to 32 years with instability and stiff legs, which rapidly progressed to lower limb spasticity and weakness with hyperreflexia.
Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types generally involve only spasticity of the lower limbs and walking difficulties. The complex types involve more widespread problems with the nervous system; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system).
A form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.
Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus , suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other.
"Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation". Br. J. Dermatol . 140 (5): 815–28. doi : 10.1046/j.1365-2133.1999.02810.x .
Three of these patients were asymptomatic at presentation between ages 6 and 28 years, although 1 with small kidneys was in renal failure and underwent renal transplantation at age 13 years.
Two of them were diagnosed as having osteopetrosis at 10 months and 36 years of age, respectively, and the third as having osteomalacia at 28 years of age. All 3 had recurrent episodes of muscle weakness.
Morris et al. (1969) observed 2 unrelated infant girls with a distinct form of bicarbonate-wasting RTA, which they referred to as dislocation type. Huth et al. (1960) separated the group with onset in infancy and childhood from that with onset in later life. The former seems to be a genetic disorder transmitted as an autosomal recessive, although a predominance of males has been observed. Wilson et al. (1967) studied 2 families, each with a case of late-onset renal tubular acidosis, and found elevation of serum immunoglobulins in close relatives but no other cases of renal tubular acidosis. Renal tubular acidosis becomes apparent because of: periodic paralysis due to hypokalemia; rickets or osteomalacia; kidney stones; or nephrocalcinosis by abdominal x-ray.
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. Epidemiology Prevalence of this disorder is not known. Fewer than 100 cases have been reported to date. Many reports involved families of North African and Middle Eastern descent, but cases have been documented worldwide. Clinical description Patients present a triad of mild osteopetrosis, mixed proximal and distal RTA, and intracerebral calcifications. Other clinical manifestations include fractures, growth failure and short stature, developmental delay, intellectual deficit, dental malocclusions/malalignment, cranial nerve compression and hearing impairment.
Menstruation ceased when the medication was discontinued 4 years later. At 28 years of age, the patient experienced progressive deterioration of balance, and at age 32 years, scanning speech and intention tremor appeared.
Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6 -related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in coordinating movements (the cerebellum). Affected individuals have an unsteady walking style (gait) and frequent falls.
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).
The older sib died at age 10 years, 9 months, without correct diagnosis. Brain MRI in the 2 sibs at ages 28 and 30 months, respectively, showed typical findings of a peroxisomal disorder, prompting repeated plasma examination in the younger sib and studies of patient fibroblasts, which led to proper molecular diagnosis.
D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may reach very early developmental milestones such as the ability to follow movement with their eyes or control their head movement, but they experience a gradual loss of these skills (developmental regression) within a few months. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing.
A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.
D-bifunctional protein deficiency (DBP deficiency) is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition never gain any developmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner.
Concussion temporarily changes the brain's function. [20] It is believed that the brain is left in a vulnerable state after concussion and that a second blow is linked to SIS. [22] The actual mechanism behind the catastrophic brain swelling is controversial. [23] [24] A second injury during this time is thought to unleash a series of metabolic events within the brain. [25] Changes indicative of SIS may begin occurring in the injured brain within 15 seconds of the second concussion. [26] Pathophysiological changes in SIS can include a loss of autoregulation of the brain's blood vessels , [12] [27] [28] which causes them to become congested. [29] [12] The vessels dilate, greatly increasing their diameter and leading to a large increase in cerebral blood flow . [1] Progressive cerebral edema may also occur. [27] [30] The increase of blood and brain volume within the skull causes a rapid and severe increase in intracranial pressure , which can in turn cause uncal and cerebellar brain herniation , a disastrous and potentially fatal condition in which the brain is squeezed past structures within the skull. [12] Studies on animals have shown that the brain may be more vulnerable to a second concussive injury administered shortly after a first. [31] In one such study, a mild impact administered within 24 hours of another one with minimal neurological impairment caused massive breakdown of the blood brain barrier and subsequent brain swelling. [22] Loss of this protective barrier could be responsible for the edema found in SIS. [22] Animal studies have shown that the immature brain may be more vulnerable to brain trauma; these findings may provide clues as to why SIS primarily affects people under age 18. [31] Diagnosis [ edit ] Magnetic resonance imaging and computed tomography are the most useful imaging tools for detecting SIS. [2] The congestion in the brain's blood vessels may be visible using CT scans . [27] SIS is distinct from repetitive head injury syndrome , in which a person suffers a series of minor head injuries over time and experiences a slow decline in functions such as cognitive abilities. [1] Unlike SIS, repetitive head injury syndrome may still occur even when symptoms from prior injuries have completely resolved. [1] SIS is thought to be more severe than repetitive head injury syndrome in both the short- and long-term. [1] Prevention [ edit ] Measures that prevent head injuries in general also prevent SIS. ... ] agree that such catastrophic brain swelling does occur after a very small number of mild brain injuries and that young age is associated with increased risk. [28] It is also agreed that some people may be particularly vulnerable to catastrophic brain swelling as the result of multiple head injuries. [14] See also [ edit ] Brain damage Dementia pugilistica (punch-drunk syndrome) Post-concussion syndrome References [ edit ] ^ a b c d e f g h i j k l m Cifu D, Drake D (August 17, 2006). ... Archived from the original (PDF) on 2008-02-28. ^ a b c Anderson MK, Hall SJ, Martin M (2004).
Many reports of total H5N1 cases exclude China due to widespread disbelief in China's official numbers. [26] [27] [28] [29] According to the CDC article H5N1 Outbreaks and Enzootic Influenza by Robert G. ... Figure 1 of the article gives a diagramatic representation of the genetic relatedness of Asian H5N1 hemagglutinin genes from various isolates of the virus. ^ WHO (28 October 2005). "H5N1 avian influenza: timeline" (PDF) . ... Proceedings of the National Academy of Sciences of the United States of America . 101 (28): 10452–7. Bibcode : 2004PNAS..10110452C . doi : 10.1073/pnas.0403212101 .
Spinal and bulbar muscular atrophy [ edit ] Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative syndrome that is associated with a particular mutation of the androgen receptor 's polyglutamine tract called a trinucleotide repeat expansion . [26] [27] SBMA results when the length of the polyglutamine tract exceeds 40 repetitions. [28] Although technically a variant of MAIS, SBMA's presentation is not typical of androgen insensitivity; symptoms do not occur until adulthood and include neuromuscular defects as well as signs of androgen inaction. [26] Neuromuscular symptoms include progressive proximal muscle weakness, atrophy , and fasciculations . ... Scattered groups of Leydig cells appearing immature. [32] All forms of androgen insensitivity are associated with infertility , though exceptions have been reported for both the mild and partial forms. [4] [5] [7] [33] [34] [35] Lifespan is not thought to be affected by AIS. [1] Trinucleotide satellite lengths and AR transcriptional activity [ edit ] Main article: Genetics of androgen insensitivity syndrome The androgen receptor gene contains two polymorphic trinucleotide microsatellites in exon 1. [2] The first microsatellite (nearest the 5' end) contains 8 [36] to 60 [27] [30] repetitions of the glutamine codon "CAG" and is thus known as the polyglutamine tract . [3] The second microsatellite contains 4 [37] to 31 [38] repetitions of the glycine codon "GGC" and is known as the polyglycine tract . [39] The average number of repetitions varies by ethnicity, with Caucasians exhibiting an average of 21 CAG repeats, and Blacks 18. [40] Disease states are associated with extremes in polyglutamine tract length; prostate cancer , [26] hepatocellular carcinoma , [41] and mental retardation [36] are associated with too few repetitions, while spinal and bulbar muscular atrophy (SBMA) is associated with a CAG repetition length of 40 or more. [28] Some studies indicate that the length of the polyglutamine tract is inversely correlated with transcriptional activity in the AR protein, and that longer polyglutamine tracts may be associated with infertility [42] [43] [44] and undermasculinized genitalia . [45] However, other studies have indicated that no such correlation exists. [46] [47] [48] [49] [50] [51] A comprehensive meta-analysis of the subject published in 2007 supports the existence of the correlation, and concluded that these discrepancies could be resolved when sample size and study design are taken into account. [11] Longer polyglycine tract lengths have also been associated with genital masculinization defects in some, [52] [53] but not all, [54] studies. ... "Association of long polyglycine tracts (GGN repeats) in exon 1 of the androgen receptor gene with cryptorchidism and penile hypospadias in Iranian patients" . J. Androl . 28 (1): 164–9. doi : 10.2164/jandrol.106.000927 .
