Résultats de recherche

20 objekt hittat

  • Spanish | BBS Fédération

    El síndrome de Bardet-Biedl (SBB) es una enfermedad genética multisistémica poco frecuente en población caucásica (está estimada 1/150.000), caracterizada por una pronunciada variabilidad fenotípica y una gran heterogeneidad genética. Pertenece al grupo de las ciliopatías, causadas por defectos en la estructura y/o función ciliar. El trastorno se trasmite principalmente de manera autosómica recesiva pero se ha detectado herencia oligogénica en algunos casos. Hasta ahora, se han identificado mutaciones en 24 genes diferentes. Este trastorno está caracterizado por una combinación de síntomas clínicos: obesidad, retinopatía pigmentaria, polidactilia post-axial, riñones poliquísticos, hipogenitalismo y trastornos de aprendizaje, muchos de los cuales aparecen muchos años después de la aparición de la enfermedad. La expresión clínica es variable pero muchos de los pacientes manifiestan la mayoría de los síntomas clínicos durante el curso de enfermedad. La retinopatía pigmentaria es el único síntoma clínico constante después la infancia. El SBB puede también estar asociado con otras manifestaciones graves incluida diabetes, hipertensión, cardiopatía congénita y enfermedad de Hirschsprung . El amplio espectro clínico observado en el SBB está asociado a una significativa heterogeneidad genética. Contactador

  • Swedish | BBS Fédération

    Bardet-Biedls Syndrom (BBS) kännetecknas av en kombination av synnedsättning, övervikt, extra fingrar och/eller tår, små könsorgan, nedsatt njurfunktion och inlärningssvårigheter. Andra symtom förekommer också. ​ Bardet-Biedls syndrom ingår i en grupp sjukdomar som kallas ciliopatier och orsakas av en skada i de primära cilierna. En primär cilie är ett orörligt utskott, ett slags antenn på cellytan som samordnar många funktioner som är av betydelse för cellfunktioner som rörelse, syn, känsel och cellsignalering. Störd ciliefunktion kan leda till avvikelser i fosterutvecklingen och ge missbildningar i många olika organ. Hos ungefär 80 procent av alla med Bardet-Biedls syndrom har det varit möjligt att påvisa en sjukdomsframkallande mutation. De vanligaste mutationerna finns i BBS1 (23 procent), BBS2 (8 procent) och BBS10 (20 procent). ​ Hittills (2022) finns mutationer rapporterade i 24 olika gener, som alla är inblandade i tillverkning eller reglering av proteiner som är av betydelse för normal cilieformation och funktion. ​ Kontakta oss

  • Russian | BBS Fédération

    связаться с нами Для этого заболевания характерна ассоциация с ожирением, пигментным ретинитом, постаксиальной полидактилией, поликистозом почек, гипогенитализмом и трудностями в обучении, которые обычно возникают через несколько лет после начала заболевания. Клиническая картина может быть различной, хотя у многих пациентов в течение болезни проявляются почти все признаки. Пигментный ретинит является единственным постоянным признаком после детского возраста. BBS также связан с другими тяжелыми признаками, включая диабет, гипертонию, врожденные пороки сердца и болезнь Гиршпрунга. ​ Синдром Барде-Бидля (СББ) описан на сайте :https://www.gsdinternational.com/ru/conditions/bardet-biedl-syndrome-bbs ​

  • Polish | BBS Fédération

    Zespół Bardeta-Biedla (BBS) charakteryzuje się połączeniem wady wzroku, otyłości, dodatkowych palców u rąk i/lub nóg, małych narządów płciowych, upośledzonej funkcji nerek i trudności w nauce. Występują również inne objawy. ​ Zespół Bardeta-Biedla należy do grupy zaburzeń zwanych ciliopatiami i jest spowodowany uszkodzeniem rzęsek pierwotnych. Rzęski pierwotne to nieruchome wypustki, rodzaj anteny na powierzchni komórki, która koordynuje wiele funkcji ważnych dla funkcjonowania komórek, takich jak ruch, widzenie, odczuwanie i sygnalizacja komórkowa. Zaburzenia funkcji rzęsek mogą prowadzić do nieprawidłowości w rozwoju płodu i powodować wady rozwojowe wielu różnych narządów. ​ U około 80% osób z zespołem Bardeta-Biedla wykryto mutację powodującą chorobę. Najczęstsze mutacje występują w BBS1 (23%), BBS2 (8%) i BBS10 (20%). ​ Do chwili obecnej (2022 r.) odnotowano mutacje w 24 różnych genach, z których wszystkie są zaangażowane w produkcję lub regulację białek ważnych dla prawidłowego tworzenia i funkcjonowania komórek. Lekarzem referencyjnym w Polsce jest dr Marta Koltlarek. Kontakt

  • Contact Us | om.be

    About RESEARCH 3 MAJOR CATEGORIES OF RESEARCH FUNDAMENTAL RESEARCH Which has as its main objective the understanding of natural phenomena, the establishment of theories or explanatory models. It is essential to the process of creating new therapies. It can use animal models "in vivo", or be conducted "in vitro" using stem cells. CLINICAL RESEARCH Is based on the results of basic research but is conducted to observe the effect of certain potentially therapeutic molecules on people with BBS. Its aim is to verify the researchers' hypotheses and to show the possible effectiveness of certain treatments, while ensuring the absence of toxicity and serious side effects. The clinical trials, organised in three phases (I, II and III), can lead to the marketing of treatments that improve people's lives. HUMAN AND SOCIAL SCIENCE RESEARCH Which allows a better understanding of the individual, family and social consequences specifically linked to the rarity of the disease and to increase knowledge on the specific impact of BBS in terms of disability and quality of life.

  • Research in Germany | BBS Fédération

    Establishment of an expert panel for BBS led by 3 doctors (Helen May-Simera, Carsten Bergmann, Metin Cetiner) : An expert committee is being set up from various doctors and representatives of the patient group in order to coordinate current research aspects for BBS in Germany. In addition to 2 representatives of the patient group, a nephrologist, a human geneticist, an ophthalmologist and a microbiologist are represented in this committee. ​ Research for the immune system with BBS led by doctor Wartsen : At the end of 2021, a new research project was launched at the University Hospital in Bonn to investigate the thesis that BBS sufferers have a stronger immune system than non-affected people and as a result are less susceptible to everyday illnesses such as flu. In May 2022, this research project will be presented to the BBS Germany patient group at a Zoom meeting. ​ Neocyst Project : NEOCYST is a research project on cystic kidney disease in children. It is implemented by a network of clinicians, geneticists and scientists. The project is funded by the Federal Ministry of Education and Research (BMBF) and supported by the Society for Paediatric Nephrology (GPN). ​ The NEOCYST study aims to gain a better understanding of cystic kidney disease and Bardet-Biedl syndrome. The knowledge gained should be used to improve : Targeted diagnosis, sound advice and and lead to the development of future therapeutic approaches. Opportunities for participation Patients of all ages who have been diagnosed with BBS can participate. Participation in the project is based on a detailed questionnaire. The questionnaire is to be filled in by the treating physician. Patient data are stored and collected in a pseudonymised form, so that no conclusions can be drawn about the individual person. ​ NEOCYST contact for interested parties Dr. Metin Cetiner, University Hospital Essen Hufelandstraße 55, 45147 Essen Mail: Metin.Cetiner@uk-essen.de

  • Clinical manifestations | BBS Fédération

    Clinical MANIFESTATIONS visual disturbance Almost all children with Bardet-Biedl Syndrome suffer from decreased vision, most often starting around the age of 5-6 years. It starts with a decrease and then a gradual loss of vision at night or when the light is a little dim. The child sees very little in the dark, but this may go unnoticed when he is small. ​ The field of vision gradually narrows at the sides, giving the impression of looking through an increasingly narrow tube (so-called "tubular vision"). The quality of vision deteriorates greatly during adolescence. Sometimes, other ocular manifestations may be associated with it: blurred distance vision (myopia) or distorted vision (astigmatism), both of which can be corrected with glasses, opacification of the crystalline lens (cataract) leading to a progressive decrease in vision, the appearance of abnormal jerky eye movements (nystagmus), problems with colour distinction, etc. Eventually, central vision can also be affected, making the patient visually impaired. ​ The visual disturbances characteristic of Bardet-Biedl syndrome are due to an impairment of the retina, called retinopathy pigmentosa. The retina is the surface of the back of the eye that receives images, much like a photographic film, and transmits them to the brain in the form of electrical signals. OVERWEIGHT Despite a normal birth weight, affected children are almost always significantly overweight from the first year of life. This overweight often evolves into severe obesity, especially in the trunk area. Sometimes the height is smaller than average. ABNORMALITIES OF TOES & FINGERS There are often, but not in all cases, malformations of the toes and fingers that are smaller than normal (brachydactyly). There are often six fingers and/or six toes instead of five, with the supernumerary finger(s) located next to the fifth finger (the little finger). This is called postaxial polydactyly. In addition, some children have two or more fingers joined together, i.e. not well separated, and connected by a membrane (webbed fingers or syndactyly). ABNORMALITIES OF the genital organs In boys, the genitals, penis and testicles, are often abnormally small (hypogonadism). In girls, malformations of the genital organs are also possible. The vagina may be closed by a partition, which causes the uterus to expand, often detected before birth (hydrometrocolpos). KIDNEY AND URINARY DEFORMITIES Malformations of the kidneys and urinary tract are very common. They can be serious and, in a significant number of cases, lead to malfunction of the kidneys, whose function is to filter the blood and allow waste products to be eliminated through urine. ​ In people with Bardet-Biedl syndrome, the progressive reduction in kidney function, known as chronic kidney failure, may require the use of an artificial kidney and lead to a kidney transplant. One of the consequences of this kidney damage is an increase in blood pressure (hypertension), which occurs in more than half of adults. Even if there are no kidney malformations, problems can occur in regulating the amount of water in the body. This is manifested by an increase in the volume of urine (regardless of the volume of liquid absorbed), with a frequent need to urinate, as well as by intense thirst (this is called diabetes insipidus). intellectual deficiency & PSYCHOLOGICAL DISORDERS The intellectual deficit is not always present. When it does exist, it is moderate or rarely severe. Most often, it is limited to learning difficulties that can be aggravated by vision problems. Affected children may also have a delay in language acquisition (they speak later than others), as well as phonation disorders (abnormal way of producing sounds). There may also be hearing loss (hearing loss), which is often mild and goes unnoticed. Psychological or behavioural disorders may appear in some people in the course of their lives. These disorders include emotional instability, frequent tantrums, inappropriate or uninhibited behaviour (with no idea of what is or is not done), with more rarely obsessive-compulsive behaviour (i.e. repetitive actions, such as washing hands very frequently). However, these disorders only affect a few patients and it is not always clear whether they are directly linked to the syndrome. OTHER MANIFESTATIONS Diabetes (too high blood sugar levels) can also set in, as in many obese people. It initially manifests itself by intense tiredness, thirst and hunger, but over time it can lead to serious complications such as kidney failure, an increased risk of heart attacks and infections, nerve damage that can cause loss of feeling in the hands and feet, etc. It can be treated with medication. Very rarely, incoordination of movements can occur, manifesting itself as abnormalities in staggering gait or poorly coordinated hand movements. In rare cases there are malformations of the heart, in particular communication between the different chambers (atria or ventricles) or narrowing of the heart valves (valvular stenoses). Long-term (chronic) constipation, when present, may be due to Hirschsprung's disease, which is a lack of contraction of the large intestine (colon) which leads to its dilation.

  • Portuguese | BBS Fédération

    Contacto A síndrome de Bardet- Biedl, caracteriza-se pela associação de défice visual progressivo, obesidade, polidactilia, problemas renais, hipogenitalismo nos homens e anomalias genito-urinárias na mulher e dificuldades de aprendizagem. Transmite-se de forma autossómica recessiva e foram identificados 24 genes associados a BBS, mas em cerca de 20% a causa ainda é desconhecida. Estima-se uma prevalência de 1/150.000. As manifestações mais frequentes são: Retinite pigmentar de tipo cone e bastonete (>90%). Esta alteração pode não ser identificável até por volta dos 8 anos, quando se inicia diminuição da visão nocturna; aos 20 anos 75% dos doentes perderam completamente a visão. Polidactilia postaxial (dedo supranumerário na metade externa das mãos e /ou pés) ocorre em cerca de 80%. Obesidade (90%) inicia-se na infância e é essencialmente do tronco. Ao nascer o peso é habitualmente normal. Não controlada, podem surgir outros problemas associados: diabetes, hipertensão, hiperlipidemia. Dificuldades de aprendizagem são frequentes (60%), embora na maioria não exista um défice cognitivo significativo. Défice de atenção, processamento lento e traços obsessivos, compulsivos são comuns. Anomalias genitais (60-90%). No sexo masculino manifesta-se por hipogonadismo com pénis e testículos pequenos, criptorquidia, ausência de caracteres sexuais secundários, atraso pubertário, infertilidade. No sexo feminino podem existir malformações genito-urinárias como ausência ou hipoplasia da vagina, útero, trompas, ovários, imperfuração vaginal, fistulas….e também atraso pubertário, amenorreia, diminuição da fertilidade, mas há casos de gravidez Alterações renais (displasia, doença quística…) ocorrem em 50 a 70% dos casos e podem conduzir a falência renal. Foi sugerido como critério de diagnóstico clínico de BBS a presença de 4 das manifestações acima referidas ou 3 delas e mais duas das seguintes: cardiopatia, diabetes, alterações dentárias, hepáticas, intestinais (hirshprung), anosmia (ausência de cheiro),braquidactilia/sindactilia (dedos curtos/unidos), descoordenação motora/ ataxia, atraso global de desenvolvimento, atraso da linguagem