Prognosis If untreated, mortality rates are 70 % that can be reduced to 28% following treatment. However morbidity remains high and survivors often have residual deficit such as chorea or epilepsy.
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy-1 (IIAE1) is caused by homozygous mutation in the UNC93B1 gene (608204) on chromosome 11q13. Description Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa. Primary infection is most commonly asymptomatic, but it may lead to symptoms usually involving the mucosa and skin. Following replication at the infection site, HSV-1 enters the epithelial endings of sensory neurons and travels up the trigeminal cranial nerves to the trigeminal ganglia, where latent infection is established. Reactivation of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to 40% of the population.
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy (IIAE5) is caused by heterozygous mutation in the TRAF3 gene (601896) on chromosome 14q32. One such patient has been reported. For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. Clinical Features Perez de Diego et al. (2010) described a 4-year-old French girl from nonconsanguineous parents who presented with persistent high fever before the onset of other symptoms, including diarrhea and convulsions, followed by epilepsy and aphasia. Her cerebrospinal fluid contained herpes simplex virus (HSV)-1, and she responded well to 3 weeks of intravenous acyclovir treatment. At age 18 years, she was healthy and had normal responses to other infectious diseases, including other HSV family members.
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy-8 (IIAE8) is caused by heterozygous mutation in the TBK1 gene (604834) on chromosome 12q14. For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. Clinical Features Herman et al. (2012) reported 2 unrelated girls, of Polish and French descent, with onset of HSE at ages 7 years and 11 months, respectively. The diagnosis in the first girl was confirmed by positivity for HSV-1 antibodies, detection of HSV-1 DNA in the cerebrospinal fluid (CSF), and abnormal brain imaging patterns. There was no family history of encephalitis or herpes labialis. She was successfully treated for the acute episode, but subsequently showed cognitive impairment and drug-resistant epilepsy.
Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes).
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy-7 (IIAE7) is caused by heterozygous mutation in the IRF3 gene (603734) on chromosome 19q13. For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. Clinical Features Andersen et al. (2015) reported a 15-year-old girl of Danish descent with herpes simplex virus (HSV) encephalitis. After a week of headache, fever, and confusion, she developed nuchal rigidity, impaired consciousness, and seizures. Cerebrospinal fluid showed mononuclear pleocytosis and was positive for HSV-1.
She had another episode at age 35 years, at which time MRI showed evidence of severe brain damage extending to the brainstem. P5 had HSE at ages 2.5, 22, and 28 years. He made a full recovery from the first episode and attended regular school.
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy (IIAE6) is caused by heterozygous or homozygous mutation in the TICAM1 gene (607601), also called TRIF, on chromosome 19p13. For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. Clinical Features Sancho-Shimizu et al. (2011) reported 2 unrelated patients from Saudi Arabia and Europe with childhood-onset HSE resulting from autosomal recessive or autosomal dominant TRIF deficiency. Both patients presented at around 2 years of age with persistent high fever, and their cerebrospinal fluid contained herpes simplex virus (HSV)-1. Both patients responded well to different antiviral treatments. Overall, the clinical phenotypes of these 2 patients were remarkably similar to those observed in patients with HSE resulting from UNC93B1 deficiency (610551), TLR3 deficiency (613002), or TRAF3 deficiency (614849).
Her early developmental history was completely normal, and she first noted difficulties with balance and gait at age 28. The disorder was progressive and she showed neurologic decline.
Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract , protein-losing enteropathy , too little albumin in the blood, reduced levels of antibodies, and immunodeficiency. Treatment involves a special long-term diet.
A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children. Epidemiology Prevalence is unknown. Less than 500 cases have been reported worldwide. Clinical description Primary intestinal lymphangiectasia (PIL) is generally diagnosed before 3 years of age but may be diagnosed in older patients with very few symptoms. The main symptom is predominantly bilateral lower limb edema related to protein-losing enteropathy associated with hypoalbuminemia.
He had no signs of intellectual deterioration. At age 28 years, he was diagnosed with axonal motor and sensory peripheral polyneuropathy with distal muscle wasting and depressed deep tendon reflexes.
See also [ edit ] Animal roleplaying#Erotic use Fur fetishism References [ edit ] ^ Hill, Dave (2000-06-19), "Cuddle Time" , Salon.com , archived from the original on 2008-03-28 , retrieved 2007-08-27 ^ Kelleher, Kathleen (2001-06-04).
Similarly, mRNA levels showed a greater decrease in fibroblasts than in lymphoblasts; enzyme activity was not detectable in fibroblasts but was reduced to 28% of controls in lymphoblasts. The truncated version of the protein was not detected, indicating that it either is not expressed or is rapidly degraded.
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
Rare metabolic genetic disorder resulting in leukoencephalopathy Ribose-5-phosphate isomerase deficiency Other names RPI deficiency [1] Ribose-5-phosphate isomerasedeficiency is a human disorder caused by mutations in the pentose phosphate pathway enzyme ribose-5-phosphate isomerase . With only three diagnosed patients over a 27-year period, RPI deficiency is currently the rarest disease in the world. [2] Contents 1 Mechanism 2 Diagnosis 3 Treatment 4 History 5 References 6 External links Mechanism [ edit ] In the search for an explanation for this rarity, it has been found that the patient has a seldom-seen allelic combination. [2] One allele is a non-functional null allele , while the other encodes for a partially active enzyme. Furthermore, the partially functional allele has expression deficits that depend on the cell type in which it is expressed. Therefore, some of the patient's cells have a considerable amount of Rpi activity, whereas others do not. [ citation needed ] The molecular cause of the pathology is not fully understood. One hypothesis is that ribose-5-phosphate may lack for RNA synthesis ; another possibility is that the accumulation of D - ribitol and D - arabitol may be toxic. [3] Diagnosis [ edit ] Symptoms include optic atrophy , nystagmus , cerebellar ataxia , seizures , spasticity , psychomotor retardation , leukoencephalopathy and global developmental delay . [4] Treatment [ edit ] There is no current treatment as well as prognosis for ribose-5-phosphate isomerase deficiency.
A person who performs an illegal abortion can be sentenced to one to six years in prison. [2] Abortion has been generally illegal in Peru since 1924. [2] See also [ edit ] Abortion Abortion by country Abortion law References [ edit ] ^ https://www.hrw.org/en/news/2008/07/09/peru-risk-women-denied-legal-abortions ^ a b https://www.un.org/esa/population/publications/abortion/doc/peru.doc External links [ edit ] Hospital Guidelines from the Peruvian Ministry of Health , released June 28, 2014 v t e Abortion in South America Sovereign states Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Dependencies and other territories Falkland Islands French Guiana South Georgia and the South Sandwich Islands v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category
Examples of this include: Using electronics on low-light conditions for extended periods Sunlight flickering through a tree-lined street Sunlight reflecting off of water, especially off of rippling waves Fixed wing flight Looking at or through a slowly spinning propeller [4] According to The US Naval Flight Surgeons Manual, flicker vertigo is a rare occurrence. [5] Flicker vertigo has been considered as a principle for various forms of non-lethal weapons . [6] [7] A related crowd-control device was invented by Charles Bovill, which "employed a combination of ultra-sonic waves and strobe lights to induce acute discomfort, sickness, disorientation and sometimes epilepsy." [8] See also [ edit ] Air safety National Transportation Safety Board Mind machine References [ edit ] ^ (online article requires logon) Archived 2007-09-28 at the Wayback Machine Clarence E Rash: Awareness of Causes and Symptoms of Flicker Vertigo Can Limit Ill Effects: Human Factors and Aviation Medicine: Vol 51: Number 2: Mar-Apr 2004: Flight Safety Foundation ^ Bunker, Robert J.
Molecular Genetics In a Japanese individual with anhaptoglobinemia found by ELISA analysis of 9,711 unrelated blood samples, Koda et al. (1998) identified a homozygous 28-kb deletion allele on chromosome 16q22 (140100.0003) extending from the promoter region of the HP gene to exon 5 of the haptoglobin-related gene (HPR; 140210), resulting in a null allele, termed HP0.
The oldest living patient, who was 83, reported visual impairment from infancy with worsening around age 28 years. At age 38, she had severely decreased visual acuity, optic atrophy, and cataract.
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness. Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. In the early stages of the condition, affected individuals experience a progressive loss of certain cells within the retina , which is a specialized light-sensitive tissue that lines the back of the eye.
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).
"Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency" . Journal of Medical Genetics . 28 (4): 267–273. doi : 10.1136/jmg.28.4.267 .
Dolichostenomelia is a human condition or habitus in which the limbs are unusually long. [1] The name is derived from Ancient Greek ( dolichos - long, steno - short, narrow, close, melia - of the limbs). It is a common feature of several kinds of hereditary disorders which affect connective tissue , such as Marfan syndrome [2] and homocystinuria . Contents 1 In fiction 2 See also 3 References In fiction [ edit ] The condition is mentioned in the Rizzoli & Isles episode Boston Strangler Redux; Maura Isles ( Sasha Alexander ) is on a date with a man whom she diagnoses as having Marfan Syndrome, which she says "explains the dolichostenomelia." See also [ edit ] Arachnodactyly References [ edit ] ^ Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book . Elsevier Health Sciences. p. 401. ISBN 978-0723436652 .
The father and daughter, who came to medical attention at age 38 years and 28 years, respectively, each underwent several pancreatic surgeries to remove insulinomas, but hypoglycemia always recurred; ultimately they were successfully treated with diazoxide and diet.
The disorder seemed to be transmitted almost exclusively through females. In only 2 of 28 families were there instances of affected father and children.
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described.
. ^ The family with no fingerprints , by Mir Sabbir; at BBC.com ; published December 26, 2020; retrieved December 28, 2020 ^ Kaufman, Rachel (August 9, 2011).
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
A number sign (#) is used with this entry because of evidence that adermatoglyphia (ADERM) is caused by heterozygous mutation in the SMARCAD1 gene (612761) on chromosome 4q22. Two overlapping syndromes involving adermatoglyphia, Basan syndrome (BASAN; 129200) and Huriez syndrome (HRZ; 181600), are also caused by mutation in the SMARCAD1 gene. Description Adermatoglyphia is characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles (summary by Nousbeck et al., 2011). Also see Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) and dermatopathia pigmentosa reticularis (DPR; 125595), 2 closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics and are caused by heterozygous nonsense or frameshift mutations in the KRT14 gene (148066). Clinical Features Burger et al. (2011) reported a 29-year-old woman who presented because of recurrent difficulty at immigration checkpoints due to absent fingerprints.
Adermatoglyphia is a rare condition that is characterized by the lack of ridges on the skin of the fingers, toes, palms of the hand and soles of the feet. Because the pattern of these ridges form each person's unique fingerprints, people with this condition are not able to be identified by their fingerprints. In some cases, adermatoglyphia may occur without any additional signs or symptoms; however, it may be associated with other skin abnormalities including small white bumps on the face, blistering of the skin, and/or a reduced number of sweat glands on the hands and feet. Adermatoglyphia is caused by changes (mutations) in the SMARCAD1 gene and is inherited in an autosomal dominant manner. Treatment is typically only necessary if other features are present.
Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the "immigration delay disease" because affected individuals have had difficulty entering countries that require fingerprinting for identification.
