Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation.
Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.
Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal.
A type of nemaline myopathy (NM) only observed in several families of the Amish community. Clinical description It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subsides after 2-3 months of age.
A number sign (#) is used with this entry because nemaline myopathy-5 (NEM5), also known as Amish nemaline myopathy, is caused by homozygous mutation in the gene encoding troponin T1 (TNNT1; 191041) on chromosome 19q13. For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Clinical Features Between 1988 and 2000, Johnston et al. (2000) treated or obtained clinical information on 71 infants and young children from 33 nuclear families with an apparently unique form of nemaline myopathy. Since the disorder occurred among the Old Order Amish of Lancaster County, Pennsylvania, the authors referred to the autosomal recessive disorder as Amish nemaline myopathy (ANM). All neonates with ANM had tremors that were evident at birth or within a few days of birth and involved most skeletal muscle groups, especially the muscles of the jaw and lower limbs.
In a socially and religiously isolated Cape Malay community in South Africa, Goldblatt et al. (1987) described 3 brothers with hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails.
Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.
Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply.
Miscellaneous/ Other Consultation w/clinical geneticist &/or genetic counselor To incl genetic counseling Family support/resources Assess: Use of community or online resources such as Parent to Parent Need for social work involvement for parental support Need for home nursing referral 1. ... Treatment of Manifestations in Individuals with Ritscher-Schinzel Syndrome View in own window Manifestation/Concern Treatment Considerations/Other Obesity Standard treatment Incl referral to nutritional specialists to monitor food intake & weight Obstructive sleep apnea Standard treatment May incl weight control, removal of tonsils/adenoids, &/or CPAP Cleft palate Standard surgical treatment, ideally by a specialized craniofacial team Congenital heart defects Standard treatment Hypercholesterolemia Standard treatment incl consideration of oral HMG-CoA reductase inhibitors (statins) 1 Other considerations incl optimizing weight, ↑ physical activity, & optimizing dietary fiber intake Renal anomalies Standard treatment per urologist &/or nephrologist Immunodeficiency Standard treatment per immunologist Family/Community Ensure appropriate social work involvement to connect families w/local resources, respite, & support. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. ... Assuming that the individual is safe to eat by mouth, feeding therapy (typically from an occupational or speech therapist) is recommended for affected individuals who have difficulty feeding due to poor oral motor control. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices.
A number sign (#) is used with this entry because of evidence that Ritscher-Schinzel syndrome-2 (RTSC2) is caused by mutation in the CCDC22 gene (300859) on chromosome Xp11. Description Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). Clinical Features Voineagu et al. (2012) reported a large family (IGOLD #586) in which 6 males spanning 3 generations had syndromic X-linked intellectual disability. One patient was deceased; clinical information was available for 5 patients, but the information given in a table was somewhat variable and unclear as to which individual had which features.
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms). Epidemiology To date < 50 cases have been described. The syndrome appears to be panethnic. Clinical description 3C syndrome is a congenital disorder characterized by distinctive craniofacial features including, in decreasing frequency, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, prominent occiput, prominent forehead, cleft palate, micrognathia, ocular coloboma. Additional craniofacial features encompass nevus flammeus (on forehead), low posterior hairline, sparse scalp hair, eyebrows and eyelashes, open mouth with protruding tongue, and short neck. In 80% of cases, cerebellar anomalies are present and include primarily Dandy-Walker malformation or Dandy-Walker variant, cerebellar vermis hypoplasia and enlargement of cisterna magma.
3C syndrome Other names CCC dysplasia , Craniocerebellocardiac dysplasia [1] or Ritscher–Schinzel syndrome , [2] Specialty Medical genetics 3C syndrome is a rare condition whose symptoms include heart defects , cerebellar hypoplasia , and cranial dysmorphism . It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named. Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 3.1 Differential diagnosis 4 Management 5 Prognosis 6 Epidemiology 7 History 8 Other animals 9 References 10 External links Signs and symptoms [ edit ] The classical triad of symptoms that defines 3C syndrome includes certain heart defects, hypoplasia (underdevelopment) of the cerebellum , and cranial dysmorphisms, which can take various forms. The heart defects and cranial dysmorphisms are heterogeneous in individuals who are all classed as having Ritscher-Schinzel syndrome. [2] Heart defects commonly seen with Ritscher-Schinzel syndrome are associated with the endocardial cushion and are the most important factor in determining a diagnosis. The mitral valve and tricuspid valve of the heart can be malformed, the atrioventricular canal can be complete instead of developing into the interatrial septum and interventricular septum , and conotruncal heart defects , which include tetralogy of Fallot , double outlet right ventricle , transposition of the great vessels , [2] and hypoplastic left heart syndrome .
One sister had a Dandy-Walker malformation (220200) with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus. ... Molecular Genetics In 11 patients with Ritscher-Schinzel syndrome from an isolated community in northern Manitoba, Canada, Elliott et al. (2013) identified a homozygous splice site mutation in the KIAA0196 gene (610657.0004). ... Population Genetics Marles et al. (1995) and Elliott et al. (2013) reported Ritscher-Schinzel syndrome in First Nation patients from an isolated, remote community in northern Manitoba, Canada.
Some examples of routes of fecal–oral transmission include: water that has come in contact with feces (for example due to groundwater pollution from pit latrines ) and is then not treated properly before drinking; by shaking someone's hand that has been contaminated by stool, changing a child's diapers, working in the garden, or dealing with domestic animals . food that has been prepared in the presence of fecal matter; eating soil ( geophagia ) disease vectors, like houseflies , spreading contamination from inadequate fecal disposal such as open defecation ; poor or absent hand washing after using the toilet or changing diapers; poor or absent cleaning of anything that has been in contact with feces; sexual practices that may involve oral contact with feces, such as anilingus ("Rimjobs"), coprophilia or A2M sexual intercourse . eating feces, in children, or in a mental disorder called coprophagia Prevention [ edit ] Modified F-diagram including interventions that can block human exposure to animal feces. [7] One approach to changing people's behaviors and stopping open defecation is the community-led total sanitation approach . ... Excreta disposal for rural and small communities (PDF) . WHO, Geneva, Switzerland. p. 12. ^ a b c Penakalapati, Gauthami; Swarthout, Jenna; Delahoy, Miranda J.; McAliley, Lydia; Wodnik, Breanna; Levy, Karen; Freeman, Matthew C. (2017-10-17). ... PMID 28926696 . ^ Kal, K and Chambers, R (2008) Handbook on Community-led Total Sanitation Archived 2015-04-10 at the Wayback Machine , Plan UK Accessed 2015-02-26 ^ Hale TL, Keusch GT (1996). ... 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Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall).
The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus.
Clinical Features The Dandy-Walker malformation (220200) is characterized by posterior fossa cyst continuous with the fourth ventricle, presumably representing agenesis of the foramina of Magendie and Luschka; partial or complete absence of the cerebellar vermis; and facultative hydrocephalus. Pierquin et al. (1989) reported male and female sib fetuses with the combination of DWM and postaxial polydactyly and suggested that the sibs reported by Egger et al. (1982) had the same syndrome, a disorder distinct from other conditions in which DWM has sometimes been observed, such as the Mohr syndrome (252100) and the Joubert-Boltshauser syndrome (JBTS; 213300). Pierquin et al. (1989) stated that the polydactyly seen with these other conditions is preaxial. The sibs reported by Egger et al. (1982) as having JBTS had postaxial polydactyly of the hands and feet, tachypnea up to 95 respirations per minute, and by computed tomography hypoplasia of the vermis, associated in 1 sib with a cyst of the fourth ventricle, consistent with DWM. One sib had fleshy tumors of the tongue. Cavalcanti and Salomao (1999) described a male infant, the product of first-cousin parents, in whom ultrasonography at 34 weeks' gestation showed polyhydramnios, posterior fossa cyst, cerebellar vermis agenesis, postaxial polydactyly, and discrete dilatation of the right kidney pelvis.
Mixed receptive-expressive language disorder Specialty Psychiatry Mixed receptive-expressive language disorder (DSM-IV 315.32) [1] is a communication disorder in which both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. [2] Children with this disorder have difficulty understanding words and sentences. ... PMID 17543904 . ^ Kjellmer, Liselotte; Hedvall, Åsa; Fernell, Elisabeth; Gillberg, Christopher; Norrelgen, Fritjof (2012). "Language and communication skills in preschool children with autism spectrum disorders: Contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability". ... External links [ edit ] Language disorder - children - Medline plus Classification D ICD - 9-CM : 315.32 v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia
A relatively high frequency also was reported among Jews from Iran and Iraq, Caucasians from North America, Great Britain, Portugal, Yugoslavia, and Greece. [4] Arya Vysyas [ edit ] Multiple studies done both in and outside India have shown an increased prevalence of pseudocholinesterase deficiency amongst the Arya Vysya community. A study performed in the Indian State of Tamil Nadu in Coimbatore , on 22 men and women from this community showed that 9 of them had pseudocholinesterase deficiency, which translates to a prevalence that is 4000-fold higher than that in European and American populations. [5] Persian Jews [ edit ] Pseudocholinesterase deficiency (anesthesia sensitivity) is an autosomal recessive condition common within the Persian and Iraqi Jewish populations. ... "Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India". Pharmacogenetics and Genomics . 16 (7): 461–8. doi : 10.1097/01.fpc.0000197464.37211.77 . ... "Genetic Screening in the Persian Jewish Community". [1] Retrieved July 20, 2011. ^ Alexander, Daniel R. (2002).
Manoharan et al. (2006) tested 226 plasma samples from a Vysya community in India and found that 9 unrelated individuals had no detectable BCHE activity. ... The authors calculated that the frequency of homozygous silent BCHE in the Vysya community was 1 in 24 (4%), a value 4,000-fold higher than that observed in European and American populations, and noted that the Vysyas constitute about 16% of the population of India.
Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). These drugs relax the muscles used for movement, including those used for breathing. Normally, the muscles are able to move again a few minutes after the drugs are given. People with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after these drugs are given. They therefore may need mechanical ventilation until the drugs are cleared from the body.
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. Epidemiology The prevalence of BChE deficiency is highest in the Caucasian population with between 3.4 and 4% of the population displaying a partial enzyme deficiency leading to slightly prolonged apnoea (between 5 minutes and 1 hour) and 1 in 2500 individuals showing a prolongation of more than 1 hour. Individuals with undetectable levels of BChE activity display a severe prolongation lasting more than 8 hours. The prevalence of this severe form is estimated at 1 in 100 000 individuals.
Only 13 cases were known worldwide in 1990, after which a cluster of 20 cases was documented in an inbred community in Arizona. Contents 1 Presentation 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Epidemiology 6 See also 7 References 8 Further reading 9 External links Presentation [ edit ] Fumarase deficiency causes encephalopathy , [2] severe intellectual disabilities , unusual facial features, brain malformation, and epileptic seizures [3] due to an abnormally low amount of fumarase in cells. ... You can help by adding to it . ( July 2017 ) Treatment [ edit ] There is a deficiency of malate in patients because fumarase enzyme can't convert fumarate into it therefore treatment is with oral malic acid which will allow the Krebs cycle to continue, and eventually make ATP. [ citation needed ] Epidemiology [ edit ] Fumarase deficiency is extremely rare - until around 1990 there had only been 13 diagnosed and identified cases worldwide. [ citation needed ] A cluster of 20 cases has since been documented in the twin towns of Colorado City, Arizona and Hildale, Utah among an inbred community of 10,000 members of the Fundamentalist Church of Jesus Christ of Latter Day Saints . [11] [12] [13] [14] Nicknamed "Polygamist's Down's", the syndrome has been blamed on cousin marriage , but in a larger sense is related to the reproductive isolation of a community among whom 85% are blood relatives of John Y. ... Deseret News . ^ Szep, Jason (June 14, 2007). "Polygamist community faces rare genetic disorder" .
Instead, VDPV is a new version of the virus that develops within a community or region where not enough people are vaccinated. Even though the weakened virus in the oral vaccine doesn't cause illness, it can spread. If most people in a community are vaccinated, the spread of the weakened virus is controlled. If many people aren't vaccinated, the weakened virus can move through a community for a long time. This gives the virus the chance to change, or mutate, and behave like the wild-type virus that causes illness. ... Samples from wastewater showed that VDPV was spreading in some communities. Since 2000, polio vaccination in the United States has used an injected vaccine with an inactivated poliovirus that doesn't create the risk for VDPV .
Poliomyelitis is a viral disease that can affect nerves and can lead to partial or full paralysis . It is caused by infection with the poliovirus. This virus can be spread by direct person-to-person contact, by contact with infected mucus or phlegm from the nose or mouth, or by contact with infected feces. There are three basic patterns of polio infection: subclinical infections, nonparalytic, and paralytic. Symptoms vary based on the pattern of infection and can range from asymptomatic with subclinical poliomyelitis to partial or full paralysis. Treatment is aimed at controlling symptoms while the infection runs its course.
The results of a large clinical trial were promising; the gamma globulin was shown to be about 80 percent effective in preventing the development of paralytic poliomyelitis. [48] It was also shown to reduce the severity of the disease in patients who developed polio. [47] Due to the limited supply of blood plasma gamma globulin was later deemed impractical for widespread use and the medical community focused on the development of a polio vaccine. [49] Vaccine Main article: Polio vaccine A child receiving an oral polio vaccine Two types of vaccine are used throughout the world to combat polio. Both types induce immunity to polio, efficiently blocking person-to-person transmission of wild poliovirus, thereby protecting both individual vaccine recipients and the wider community (so-called herd immunity ). [50] The first candidate polio vaccine , based on one serotype of a live but attenuated (weakened) virus , was developed by the virologist Hilary Koprowski . ... Local officials said the strain originated from a weakened virus used in an oral vaccine that was then excreted in feces and spread into the unvaccinated population through unsanitary conditions. [119] It was reported that 23 of 199 children in the local community had not received the polio vaccine. [119] Middle East In Syria difficulties in executing immunization programs in the ongoing civil war led to a return of polio, probably in 2012, [121] acknowledged by the WHO in 2013. [122] [123] 15 cases were confirmed among children in Syria between October and November 2013 in Deir Ezzor . ... In developed countries during the late 19th and early 20th centuries, improvements were made in community sanitation, including better sewage disposal and clean water supplies. ... The late effects of Polio: Information For Health Care Providers (PDF) . Commonwealth Department of Community Services and Health. ISBN 978-1-875412-05-1 .
Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses. Epidemiology Progress in global poliomyelitis eradication, since its beginning in 1988, has been remarkable. In 1988, 125 countries were endemic for poliomyelitis and an estimated 1000 children were being paralyzed every day by wild poliovirus. By the end of 2003, six polio-endemic countries remained (Afghanistan, Egypt, India, Niger, Nigeria, Pakistan), and less than 3 children per day were being paralyzed by the poliovirus. The Global Poliomyelitis Eradication Initiative is ongoing. There remain only 4 endemic countries (Pakistan, Afghanistan, India, and Nigeria) and just 2000 reported cases globally in 2006.
Contents 1 See also 2 References 2.1 Lectures by Hubbard 2.2 Hubbard Communications Office Bulletins 3 Notes See also [ edit ] Space opera in Scientology scripture Galactic Confederacy Marcab Confederacy Helatrobus Incident (Scientology) Xenu References [ edit ] Lectures by Hubbard [ edit ] "The Helatrobus Implants", 21 May 1963 "State of OT", 23 May 1963 "Assists" lecture. 3 October 1968, #10 in the Class VIII series. (Audio extracts - [1] ) Saint Hill Special Briefing Courses, tapes 266, 268 and 272, 1963 Hubbard Communications Office Bulletins [ edit ] "Aircraft Door Goals", HCOB April 17, 1963 "Heaven" , HCOB May 11, 1963 (no longer published by the Church of Scientology) "Routine 3N: Line Plots", HCOB 14 July 1963 "Routine 3N - The Train GPMs - The Marcab Between Lives Implants", HCOB 24 August 1963 Notes [ edit ] ^ Hubbard, L. ... Church of Scientology of Toronto Religious Technology Center v. Netcom On-Line Communication Services, Inc. R. v. Church of Scientology of Toronto United States v.
Data on the use of sign language or alternative communication methods have not been reported. ... In one study of 42 individuals, scores on the Social Communication Questionnaire completed by parents/caregivers indicated that 67% were above the at-risk threshold for ASD [Lennox et al 2020]. ... Neuroblastoma has been observed in three females ages 4-7 months [Lennox et al 2020; Sherr, personal communication]. In two of the three, neuroblastoma was detected incidentally (while obtaining spine MRIs). ... Bowel dysfunction For constipation Stool softeners, prokinetics, osmotic agents or laxatives as needed Abnormal vision Standard treatment(s) as recommended by ophthalmologist Community vision services through early intervention or school district Hearing Hearing aids may be helpful as per audiologist Community hearing services through early intervention or school district Cardiovascular Standard care per treating cardiologist Respiratory Standard care per treating pulmonologist Precocious puberty Standard care per treating endocrinologist Family/ Community Ensure appropriate social work involvement to connect families w/local resources, respite, & support. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.
A rare benign renal tumor characterized by a typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular.