Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. ... Etiology The etiology of HSS is unknown; however, it is assumed that HSS is a form of vasculitis following a similar mechanism of pathogenesis to that thought to be involved in BD. Diagnostic methods Diagnosis of HSS is made on the basis of the clinical picture (association of venous thrombosis and PAAs in a young patient), patient history and imaging studies (chest radiographs, conventional angiography or helical computed tomography) for detection and evaluation of the PAAs. ... Differential diagnosis The pulmonary manifestations of HSS and BD have been reported to be identical, but the two syndromes can be distinguished on the basis of the absence of mucocutaneous findings in HSS.
This theory helps to explain why negative life incidents precede depression in around 80 percent of cases, [71] [72] and why they so often strike people during their peak reproductive years. ... "Melancholia: A Historical Review" . Journal of Mental Science . 80 (328): 1–42. doi : 10.1192/bjp.80.328.1 . ... Archives of General Psychiatry . 41 (1): 72–80. doi : 10.1001/archpsyc.1984.01790120076010 . ... J Psychosom Res . 38 (Suppl 1): 113–23, discussion 118–23. doi : 10.1016/0022-3999(94)90142-2 . PMID 7799243 . ^ Ashton CH (March 1995). ... Experimental and Molecular Pathology . 83 (1): 84–92. doi : 10.1016/j.yexmp.2006.09.008 .
Overview If you have a mood disorder, your general emotional state or mood is distorted or inconsistent with your circumstances and interferes with your ability to function. You may be extremely sad, empty or irritable (depressed), or you may have periods of depression alternating with being excessively happy (mania). Anxiety disorders can also affect your mood and often occur along with depression. Mood disorders may increase your risk of suicide. Some examples of mood disorders include: Major depressive disorder — prolonged and persistent periods of extreme sadness Bipolar disorder — also called manic depression or bipolar affective disorder, depression that includes alternating times of depression and mania Seasonal affective disorder (SAD) — a form of depression most often associated with fewer hours of daylight in the far northern and southern latitudes from late fall to early spring Cyclothymic disorder — a disorder that causes emotional ups and downs that are less extreme than bipolar disorder Premenstrual dysphoric disorder — mood changes and irritability that occur during the premenstrual phase of a woman's cycle and go away with the onset of menses Persistent depressive disorder (dysthymia) — a long-term (chronic) form of depression Disruptive mood dysregulation disorder — a disorder of chronic, severe and persistent irritability in children that often includes frequent temper outbursts that are inconsistent with the child's developmental age Depression related to medical illness — a persistent depressed mood and a significant loss of pleasure in most or all activities that's directly related to the physical effects of another medical condition Depression induced by substance use or medication — depression symptoms that develop during or soon after substance use or withdrawal or after exposure to a medication For most people, mood disorders can be successfully treated with medications and talk therapy (psychotherapy). When to see a doctor If you're concerned that you may have a mood disorder, make an appointment to see your doctor or a mental health professional as soon as you can.
The role of HPV in the remaining 25-30% is not yet clear. [43] Oral sex is not risk free and results in a significant proportion of HPV-related head and neck cancer. [44] Positive HPV16 status is associated with improved prognosis over HPV-negative OSCC. [45] HPV can induce tumor by several mechanisms: [46] E6 and E7 oncogenic proteins. Disruption of tumor suppressor genes . ... Another study evaluated the impact of adding cetuximab to conventional chemotherapy ( cisplatin ) versus cisplatin alone. ... A total of 11,170 people died of their disease in 2006. [80] The worldwide incidence exceeds half a million cases annually. ... Journal of the National Cancer Institute . 91 (8): 726–8. doi : 10.1093/jnci/91.8.726a . hdl : 2434/520105 . ... The New England Journal of Medicine . 340 (23): 1773–80. CiteSeerX 10.1.1.460.1056 . doi : 10.1056/NEJM199906103402301 .
Since the talus is wider anteriorly (in the front) than posteriorly (at the back), as the front of the foot is raised (dorsiflexed) reducing the angle between the foot and lower leg to less than 90°, then the mortise is confronted with an increasingly wider talus. ... In some cases, the diagnosis is only made after treatment for the more common, lateral, ankle sprain fails. [2] Diagnosis may also be delayed because swelling is usually minor or nonexistent and the true nature of the injury unappreciated. [3] A variety of diagnostic tests have been described such as the 'squeeze' (compressing the tibia and fibula above the midpoint of the calf), 'dorsiflexion with compression' (patient dorsiflexes the foot while the examiner compresses the internal and external malleolus), and 'external rotation' (patient sits with leg dangling and ankle at 90° and external rotation then applied to the foot) etc. ... PMID 9801078 . ^ Ankle Syndesmosis Injuries – Orthogate – Improving orthopedic care, education and research with Internet technologies ^ Syndesmotic Sprain – Wheeless' Textbook of Orthopaedics ^ a b Sman AD, Hiller CE, Refshauge KM (2013). "Diagnostic accuracy of clinical tests for diagnosis of ankle syndesmosis injury: a systematic review" . ... "Diagnosis and treatment of acute ankle injuries: development of an evidence-based algorithm" . Orthop Rev (Pavia) . 4 (1): e5. doi : 10.4081/or.2012.e5 . PMC 3348693 .
Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
Pineoblastoma is a type of cancerous ( malignant ) tumor that grows in a part of the brain known as the pineal gland . It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long term outcome depends on the age at diagnosis, the size of the tumor, and if the tumor has spread outside the brain ( metastasized ). The cause of pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a pineoblastoma.
Electron transport chain (ETC) assays in liver and muscle tissue of affected individuals typically show decreased activity of multiple complexes with complex I having reduced activity in 80% of affected individuals [El-Hattab et al 2018]. ... Molecular Genetic Testing Used in MPV17 -Related mtDNA Maintenance Defect View in own window Gene 1 Method Proportion of Probands with Pathogenic Variants 2 Detectable by Method MPV17 Sequence analysis 3 94/98 (96%) 4, 5 Gene-targeted deletion/duplication analysis 6 4/98 (4%) 4 1. ... Clinical Manifestations of MPV17 -Related Encephalohepatopathy View in own window Clinical Manifestations Frequency Hepatic Liver dysfunction 1 96/96 (100%) Liver failure 2 87/96 (91%) Cholestasis 70/96 (73%) Hepatomegaly 60/96 (63%) Steatosis 49/96 (51%) Liver cirrhosis 20/96 (21%) Hepatocellular cancer 3 3/96 (3%) Neurologic 4 Developmental delay 5 75/91 (82%) Hypotonia 67/91 (74%) Microcephaly 21/91 (23%) Peripheral neuropathy 6 17/91 (19%) Seizures 9/91 (10%) Dystonia 4/91 (4%) Ataxia 3/91 (3%) Abnormalities on brain MRI White matter 7 27/71 (38%) Brain stem signal 6/71 (8%) Basal ganglia signal 6/71 (8%) Gastrointestinal Failure to thrive 8 82/91 (90%) Gastrointestinal dysmotility 9 30/91 (33%) Feeding difficulties 28/91 (31%) Metabolic Lactic acidosis 10 72/91 (79%) Hypoglycemia 11 55/91 (60%) Other Renal tubulopathy 9/91 (10%) Nephrocalcinosis 7/91 (8%) Hypoparathyroidism 4/91 (4%) Retinopathy 7/91 (8%) Nystagmus 6/91 (7%) Corneal anesthesia & ulcers 4/91 (4%) 1. ... The majority died during infancy (52/65; 80%); some died during early childhood (1-5 years) (10/65; 15%), adolescence (2/65; 3%), or early adulthood (1/65; 2%). 3. ... Mitochondrial DNA Maintenance Defects Presenting with Myopathy View in own window Gene Disorder MOI mtDNA Maintenance Defect Usual Age of Onset Common Clinical Manifestations in Addition to Muscle Weakness AGK Sengers syndrome (OMIM 212350) AR Depletion Neonatal period Hypotonia HCM Cataracts DGUOK Deoxyguanosine kinase deficiency AR Multiple deletions Early or mid-adulthood Ptosis Ophthalmoplegia DNA2 Myopathy (OMIM 615156) AD Multiple deletions Childhood or early adulthood Ptosis Ophthalmoplegia MGME1 Myopathy (OMIM 615084) AR Depletion & multiple deletions Childhood or early adulthood Ptosis Ophthalmoplegia POLG2 Myopathy (See POLG -Related Disorders) AD Multiple deletions Infancy to adulthood Ptosis Ophthalmoplegia SLC25A4 Cardiomyopathy (OMIM 615418) AR Multiple deletions Childhood Exercise intolerance/ easy fatigability HCM Cardiomyopathy (OMIM 617184) AD Depletion Birth Hypotonia HCM TK2 Mitochondrial DNA depletion syndromes AR Depletion Infancy or childhood Hypotonia Loss of acquired motor skills AD = autosomal dominant; AR = autosomal recessive; HCM = hypertrophic cardiomyopathy; MOI = mode of inheritance Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MPV17 -related mtDNA maintenance defect, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended: Table 5.
American Journal of Human Genetics . 90 (6): 1108–15. doi : 10.1016/j.ajhg.2012.05.006 . ... American Journal of Medical Genetics . 90 (4): 265–9. doi : 10.1002/(SICI)1096-8628(20000214)90:4<265::AID-AJMG1>3.0.CO;2-S . ... PMID 10649789 . ^ Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al. (2007). ... PMID 9354837 . ^ Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. (1997). "Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities" . ... American Journal of Medical Genetics . 158A (2): 269–91. doi : 10.1002/ajmg.a.34402 . PMID 22228622 .
Among their patients, the most frequent features were neuroimaging alterations (100%), macrocephaly (92%), overgrowth (92%), capillary malformations (85%), developmental delay (85%), and asymmetry (62%).
A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies. Epidemiology Over 200 patients have been reported without sex predominance. Clinical description Symptoms are usually recognizable at birth. Their severity varies widely among patients. Megalencephaly is a major clinical feature (MEG: occipitofrontal circumference [OFC] greater than or equal to 3 SD above the mean), which sometimes progresses to hydrocephaly, malformations of cortical development with polymicrogyria and Chiari malformation. Cutaneous capillary anomalies are often scattered over the limbs, palms, soles and trunk, are frequently pink/red and are aggravated by crying and emotions.
Nevertheless, autoimmune changes in blood of players may consist the earliest measurable event predicting CTE. [23] According to 2017 study on brains of deceased gridiron football players, 99% of tested brains of NFL players, 88% of CFL players, 64% of semi-professional players, 91% of college football players, and 21% of high school football players had various stages of CTE. ... Concussion or mild traumatic brain injury (mTBI) is one of the most common neurologic disorders accounting for approximately 90% of all brain injuries sustained (Saulle M, Greenwald BD, 2012). [41] CTE is common among the athletic population because of the high prevalence of concussions; “estimated 1.6–3.8 million sport-related concussion annually in the USA” (Saulle M, Greenwald BD, 2012). [41] This number could be higher because many people do not report their symptoms or may not even know they could have a concussion. ... “In a 2009 review of CTE, McKee et al. found that 51 neuropathologically diagnosed cases of CTE 46 (90%) occurred in athletes. Specifically, athletes participating in American football, boxing, soccer, and hockey comprise the majority of cases” (Saulle M, Greenwald BD, 2012). [41] It is unclear the incidence of CTE as well as at what age it can start. ... PMID 31215252 . ^ Saulle M, Greenwald BD (2012). "Chronic traumatic encephalopathy: a review" (PDF) . ... Molecular and Cellular Neuroscience . 66 : 75–80. doi : 10.1016/j.mcn.2015.03.001 .
Overview Chronic traumatic encephalopathy (CTE) is a brain disorder likely caused by repeated head injuries. It causes the death of nerve cells in the brain, known as degeneration. CTE gets worse over time. The only way to definitively diagnosis CTE is after death during an autopsy of the brain. CTE is a rare disorder that is not yet well understood. CTE doesn't appear to be related to a single head injury. It's related to repeated head injuries, often occurring in contact sports or military combat.
Please help improve this section by adding citations to reliable sources . ... Few patients are candidates for surgery. [11] The global developmental delay that affects 94% can also be mitigated in some patients with occupational, physical, and speech therapies. ... "Sodium Channel SCN3A (Na V 1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development" . Neuron . 99 (5): 905–913.e7. doi : 10.1016/j.neuron.2018.07.052 . ... Neuron . 99 (5): 905–913.e7. doi : 10.1016/j.neuron.2018.07.052 . ... Acta Neuropathologica Communications . 2 : 80. doi : 10.1186/s40478-014-0080-3 .
Polymicrogyria (PMG) is a heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy
A number sign (#) is used with this entry because of evidence that Carpenter syndrome-2 (CRPT2) is caused by homozygous or compound heterozygous mutation in the MEGF8 gene (604267) on chromosome 19q13. Description Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000. Clinical Features Altunhan et al. (2011) described a Turkish boy who was born with acrocephaly and a peculiar facies characterized by frontal bossing. Digital abnormalities included clinodactyly of the fifth fingers, membranous syndactyly of fingers 3 and 4, syndactyly of toes 1 and 2, and preaxial polydactyly of the big toes bilaterally.
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Epidemiology Over 70 cases have been described in the literature. Clinical description Presentation at birth is with macrosomia, umbilical hernia and craniosynostosis which ranges from cloverleaf configuration to predominant involvement of the metopic ridge to craniofacial asymmetry. Cranial anomalies may lead to raised intercranial pressure, difficulty in articulation, frequent otitis media and resultant hearing loss. Typical abnormalities of the digits include brachydactyly, cutaneous syndactyly, preaxial polydactyly in the toes and postaxial polydactlyly in the hands with broad thumbs and absent middle phalanges. Characteristic facial features may include flat nasal bridge with epicanthal folds, down-slanting palpebral fissures, corneal anomalies, low-set, posteriorly rotated malformed ears, and an underdeveloped maxilla and mandible.
Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.
Journal - Forensic Science Society . 24 (5): 461–71. doi : 10.1016/S0015-7368(84)72325-5 . PMID 6520589 . ^ Fayemiwo SA, Adegboro B (2013-11-20). ... PMC 6831150 . PMID 31750376 . ^ a b c d Fath BD, Jørgensen SE (23 August 2018). Encyclopedia of ecology . ... "Fatty Liver Disease Caused by High-Alcohol-Producing Klebsiella pneumoniae" . Cell Metabolism . 30 (4): 675–688.e7. doi : 10.1016/j.cmet.2019.08.018 . ... Journal of the Royal Society of Medicine . 84 (11): 669–71. doi : 10.1080/13590840410001734929 .
PMID 2465364 . S2CID 19788503 . ^ McCandliss BD, Noble KG (2003). "The development of reading impairment: a cognitive neuroscience model". ... Brain Res Cogn Brain Res . 16 (2): 185–91. doi : 10.1016/S0926-6410(02)00270-7 . ... "Uncoupling of reading and IQ over time: empirical evidence for a definition of dyslexia". Psychol Sci . 21 (1): 93–101. CiteSeerX 10.1.1.459.3866 . doi : 10.1177/0956797609354084 . ... J Child Psychol Psychiatry . 44 (8): 1079–91. CiteSeerX 10.1.1.456.6283 . doi : 10.1111/1469-7610.00193 .
These include [ citation needed ] Agenesis of the corpus callosum (80–99% patients) Hypopigmentation of the eyes and hair (80–99% patients) Cardiomyopathy (80–99% patients) Combined immunodeficiency (80–99% patients) Muscular hypotonia (80–99% patients) Abnormality of retinal pigmentation (80–99% patients) Recurrent chest infections (80–99% patients) Abnormal EEG (80–99% patients) Intellectual disability (80–99% patients) Cataracts (75%) Seizures (65%) Renal abnormalities (15%) Infections of the gastrointestinal and urinary tracts are common. ... Sci Rep 7(1):3552. doi: 10.1038/s41598-017-02840-8 ^ del Campo M, Hall BD, Aeby A, et al. (1999). "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance". Am. J. Med. Genet . 85 (5): 479–485. doi : 10.1002/(SICI)1096-8628(19990827)85:5<479::AID-AJMG9>3.0.CO;2-D . PMID 10405446 . ^ del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A et al. (1999) "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance". American Journal of Medical Genetics 85(5): 479-485. ^ Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T et al. (2007) "Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis".
Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected. A characteristic feature of Vici syndrome is a brain abnormality called agenesis of the corpus callosum, in which the tissue that connects the left and right halves of the brain (the corpus callosum ) fails to form normally during the early stages of development before birth. Other brain abnormalities can occur in Vici syndrome, including underdevelopment of a region of the brain known as the pons (pontine hypoplasia) and reduced myelin , which is a fatty substance that covers and protects nerve cells. In addition to problems with brain development, breakdown (degeneration) of brain tissue may occur over time, resulting in an unusually small head size (microcephaly ).
Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because Vici syndrome (VICIS) is caused by homozygous or compound heterozygous mutation in the EPG5 gene (615068) on chromosome 18q. Description Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012). Clinical Features Dionisi Vici et al. (1988) described 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The sibs suffered from severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis.
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Epidemiology Prevalence is unknown. Only 20 cases have been reported to date. Clinical description Vici syndrome is usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Swallowing and feeding difficulties may be noted early on and may lead to failure to thrive.
With each subsequent cycle of chemotherapy, the reaction will appear more quickly, be more severe and will take longer to heal. [24] History [ edit ] Hand-foot syndrome was first reported in association with chemotherapy by Zuehlke in 1974. [25] Synonyms for acral erythema (AE) include: hand-foot syndrome, palmar-plantar erythrodysesthesia, peculiar AE, chemotherapy-induced AE, toxic erythema of the palms and soles, palmar-plantar erythema, and Burgdorf's reaction. ... Palmar-plantar rash with cytarabine therapy". N. Engl. J. Med . 364 (3): e5. doi : 10.1056/NEJMicm1006530 . PMID 21247311 . ^ a b c Baack BR, Burgdorf WH (1991). ... Dermatol . 24 (3): 457–61. doi : 10.1016/0190-9622(91)70073-b . PMID 2061446 . ^ Demirçay Z, Gürbüz O, Alpdoğan TB, Yücelten D, Alpdoğan O, Kurtkaya O, Bayik M (1997). ... "Pyridoxine therapy for palmar-plantar erythrodysesthesia associated with taxotere" . J. Natl. Cancer Inst . 85 (17): 1432–3. doi : 10.1093/jnci/85.17.1432 . ... "Erythematous eruption of the palms and soles associated with mitotane therapy". Dermatologica . 148 (2): 90–2. doi : 10.1159/000251603 . PMID 4276191 .
"Congenital Infiltrating Lipomatosis of the Face" . Annals of Plastic Surgery . 80 (1): 83–89. doi : 10.1097/SAP.0000000000001213 . ... Plastic and Reconstructive Surgery . 136 : 72–73. doi : 10.1097/01.prs.0000472371.96995.e5 . ^ Clinical trial number NCT03094832 for "Study of ARQ 092 in Subjects With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC)" at ClinicalTrials.gov ^ Clinical trial number NCT04085653 for "Managed Access Program (MAP) to Provide Alpelisib (BYL719) for Patients With PIK3CA-Related Overgrowth Spectrum (PROS)" at ClinicalTrials.gov
These people may carry high quantities of a protein called APOBEC3G that disrupts viral replication in cells. APOBEC3G, or "A3" for short, is a protein that sabotages reverse transcription, the process HIV relies on for its replication. This process involves the virus transcribing its single-stranded RNA genome into double-stranded DNA that is incorporated into the cell's genome. A3 usually stops dormant viruses in the human genome, called endogenous retroviruses , from reawakening and causing infections. [16] [17] Long-term nonprogressors term is used for HIV carriers only but the wide term asymptomatic carrier is well-known for many other infections. ... Retrieved July 5, 2011 . ^ Walker, BD (2007). "Elite control of HIV Infection: implications for vaccines and treatment". ... "Effector mechanisms in HIV-1 infected elite controllers: Highly active immune responses?" . Antiviral Research . 85 (1): 295–302. doi : 10.1016/j.antiviral.2009.08.007 . ... "HLA-B*5703 independently associated with slower HIV-1 disease progression in Rwandan women". AIDS . 13 (14): 1990–91. doi : 10.1097/00002030-199910010-00031 .
Clinical Features Cantu et al. (1991) described 2 unrelated patients, a 21-year-old male and an 11-year-old female, with a form of osteochondrodysplasia that was later called spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS), Fantasy Island syndrome, or Tattoo dysplasia (Cantu, 1995; Lachman, 2007). ... Garcia-Cruz et al. (2007) proposed that SED-BDS is inherited in an autosomal dominant manner since both sexes were affected and parental consanguinity was absent.
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
The disease initially mainly affects the skin , but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality. [3] Contents 1 Presentation 1.1 Predisposition to cancer 2 Genetics 2.1 X-linked 2.2 Autosomal dominant 2.3 Autosomal recessive 3 Pathophysiology 4 Diagnosis 5 Management 6 Prognosis 7 Research 8 See also 9 References 10 External links Presentation [ edit ] This section does not cite any sources . Please help improve this section by adding citations to reliable sources . ... In humans, telomerase is inactive in most cell types after early development (except in extreme cases such as cancer). [8] Thus, if telomerase is not able to efficiently affect the DNA in the beginning of life, chromosomal instability becomes a grave possibility in individuals much earlier than would be expected. [ citation needed ] A study shows that proliferative defects in DC skin keratinocytes are corrected by expression of the telomerase reverse transcriptase , TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 of the telomerase RNA component , TERC. [12] Diagnosis [ edit ] Since the disease has a wide variety of symptoms due to involvement of multiple systems of the body, diagnostic testing depends on the clinical findings in each individual patient. ... Dyskeratosis Congenita in regards to stem cell transplantation have to be very carefully treated with low intensity radiation/chemo to avoid potentially catastrophic effects of Host versus graft disease and toxicity to other organs effected by short telomeres which makes them very sensitive to any radiation especially the lungs,and liver [ citation needed ] Prognosis [ edit ] DC is associated with shorter life expectancy, but many live to at least age 60. [15] Main cause of mortality in these patients are related to bone marrow failure. Nearly 80% of the patients of dyskeratosis congenita develop bone marrow failure. [ citation needed ] Research [ edit ] Recent research has used induced pluripotent stem cells to study disease mechanisms in humans, and discovered that the reprogramming of somatic cells restores telomere elongation in dyskeratosis congenita (DKC) cells despite the genetic lesions that affect telomerase. ... "Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC" .
A number sign (#) is used with this entry because autosomal recessive dyskeratosis congenita-2 (DKCB2) is caused by homozygous or compound heterozygous mutation in the NOLA2 gene (606470), also known as NHP2, on chromosome 5q35. Description Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). Clinical Features Vulliamy et al. (2008) reported a Turkish man with nail dystrophy, thrombocytopenia, testicular atrophy, opportunistic infections, growth and mental retardation, liver cirrhosis, and intracranial calcification.
A number sign (#) is used with this entry because autosomal recessive dyskeratosis congenita-3 (DKCB3) is caused by compound heterozygous mutation in the TCAB1 gene (WRAP53; 612661) on chromosome 17p13. Description Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). Clinical Features Zhong et al. (2011) reported 2 unrelated patients with the classic triad of DKC, including oral leukoplakia, abnormal skin pigmentation, and nail dystrophy.
Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, that resembles the appearance of lace; and (3) white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including pulmonary fibrosis, bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals. This condition is caused by pathogenic variants (mutations) in a number of different genes known to affect the length of the telomeres. Telomeres are structures found at the ends of chromosomes that protect the chromosomes from sticking together or breaking down.
A number sign (#) is used with this entry because of evidence that autosomal dominant dyskeratosis congenita-1 (DKCA1) is caused by heterozygous mutation in the gene encoding telomerase RNA component (TERC; 602322) on chromosome 3q26. Description Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by Bessler et al., 2007 and Bessler et al., 2010).
Telomere length less than the first percentile for age in lymphocytes is 97% sensitive and 91% specific for DC. In individuals with complex or atypical DC, the six-cell panel may be more informative than the two-panel test of total lymphocytes and granulocytes [Alter et al 2012]. ... Molecular Genetics of Dyskeratosis Congenita (DC): Most Common Genetic Causes View in own window Gene 1, 2 MOI Proportion of DC Attributed to Pathogenic Variants in Gene 3 Proportion of Pathogenic Variants 4 Detected by Method Sequence analysis 5 Gene-targeted deletion/duplication analysis 6 CTC1 AR 1%-3% ~100% Unknown 7 DKC1 XL 20%-25% ~100% 8 Unknown 7 RTEL1 AD or AR 2%-8% ~100% Unknown 7 TERC AD 5%-10% ~100% Unknown 7 TERT AD or AR 1%-7% ~100% Unknown 7 TINF2 AD 12%-20% ~100% Unknown 7 Unknown 20%-30% NA AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked 1. ... Molecular Genetics of DC: Less Common Genetic Causes View in own window Gene 1, 2, 3 Comments ACD AD or AR; 2 families identified [Guo et al 2014, Kocak et al 2014] NHP2 AR; 2 families, 6/6 reported alleles [Vulliamy et al 2008] NOP10 AR; 1 family, 2/2 reported alleles [Walne et al 2007] PARN AR; 6 families [Tummala et al 2015, Moon et al 2015, Burris et al 2016] WRAP53 ( TCAB1 ) AR; 2 families with 4/4 reported alleles [Zhong et al 2011] Pathogenic variants of any one of the genes listed in this table is reported in only a few families (i.e., <1% of DC) AD = autosomal dominant; AR = autosomal recessive 1. ... By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%. The diagnosis of FA rests on the detection of chromosome aberrations (breaks, rearrangements, radials, exchanges) in cells after culture with a DNA interstrand cross-linking agent such as diepoxybutane (DEB) or mitomycin C (MMC). ... The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months).