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Osteogenesis imperfecta typ 3

Über 80% neue Produkte zum Festpreis. Riesenauswahl. Neu oder gebraucht kaufen. Schon bei eBay gesucht? Hier gibt es Markenqualiät zu günstigen Preisen Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common Dentinogenesis imperfecta finns hos ungefär hälften av alla med osteogenesis imperfecta och är vanligast vid typ III. Oftast är mjölktänderna mer drabbade än de permanenta tänderna. Skadan på dentinet gör att tänderna ofta har en annan färg än normalt Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. The disease is characterised in particular by bone fragility, decreased bone mass and increased incidence of fractures. Other usual findings are muscle hypotonia, joint hypermobility and short stature

The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV) Typ 2. Detta är en mycket allvarlig form av sjukdomen och utgör cirka 10 % av fallen. Det inträffar en rad benfrakturer redan i fosterstadiet och 60 % dör före födseln. Av dem som blir födda, dör 80 % under den första levnadsmånaden. Typ 3. Detta är en allvarlig form av osteogenesis imperfecta och utgör 20 % av fallen Osteogenesis imperfecta innebär att du lätt bryter olika ben i kroppen. Det kallas även medfödd benskörhet eftersom benskörhet är ett av de vanligaste symtomen. Du kan inte bli av med benskörheten helt, men olika behandlingar kan lindra symtomen. Medfödd benskörhet gör att skelettet försvagas Osteogenesis imperfecta är en genetisk sjukdom som beror på en mutation i genen för kollagen. Sjukdomen är ärftlig och innebär framförallt olika grader av benskörhet. De som drabbas av de svårare formerna dör i spädbarnsstadiet medan de lindrigast drabbade lever ett helt normalt liv, med något fler benbrott än andra. Det innebär att inom sjukdomen finns allt från svårt handikappade till fullt arbetsföra personer. De flesta besväras dock av någon form av värk. Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth

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  1. - Mellan cellerna finns kollagen typ 1 som är ett trådigt protein, en bindväv, som har stor betydelse vid osteogenesis imperfecta, OI, berättar Eva Åström, överläkare i OI-teamet på Karolinska universitetssjukhuset i Stockholm. Osteogenesis imperfecta, förkortat OI, är en ärftlig bindvävssjukdom
  2. ed the death rate in each age group and smoothed the rates by fitting a linear function of 1/age to deter
  3. Prognosis - Osteogenesis imperfecta- type 3 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.org] Making sure the house is handicapped-friendly and accessible for people with assistive mobility devices is necessary. 9 Prognosis The prognosis or outlook for people with OI greatly depends on which type they have
  4. What is Osteogenesis Imperfecta? Osteogenesis imperfect (OI) is a bone disorder involving genetic predisposition. It is also called as Lobstein syndrome or brittle bone disease.Individuals with osteogenesis imperfect lacks Type-1 collagen, which leads to defects in the connective tissue or may also lead to inability to make connective tissues leading to brittle bones

Osteogenesis imperfecta type III Genetic and Rare

Osteogenesis imperfecta - Socialstyrelse

  1. Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their peers, and may have severe bone deformities, breathing problems (which can be life-threatening), brittle teeth, a curved spine, ribcage deformities, and other problems
  2. Basic Information on O
  3. Osteogenesis imperfecta ABSTRACT Osteogenesis imperfecta (OI) is a genetic disorder that in most cases is characterised by ab-normal collagen formation leading to increased bone fragility and risk of fractures. The disease has a broad spectrum of severity that ranges from mild phenotypes with few fractures, wit
  4. Osteogenesis imperfecta (OI), also known as brittle bone disease, is an inherited disorder of the connective tissue. A child born with OI may have soft bones that fracture easily, bones that are not formed normally, and other problems
  5. As this eMedTV article explains, type 3 osteogenesis imperfecta (OI) is characterized by features such as easily fractured bones, triangular face, and large head. This article talks about the causes, symptoms, and treatment of type 3 OI
  6. derde stevigheid van de botten. Hierdoor kunnen gemakkelijk botbreuken (fracturen) ontstaan en vergroeiingen (deformaties) van de armen, benen, wervelkolom, borstkas en/of de schedel

Osteogenesis ImperfectaInstructional Tutorial VideoCanadaQBank.comQBanks for AMC Exams, MCCEE, MCCQE & USMLEURL: http://youtu.be/zbRZWIJIGs SOCIALSTYRELSEN 2021-02-08 2(3) Läkemedelsbehandling Barn med osteogenesis imperfecta och vuxna med osteogenesis imperfecta typ III, klinisk bild som vid typ III och svårare former av osteogenesis imperfecta typ IV som bedömts av nationel 1. Pediatr Res. 2017 Nov;82(5):753-758. doi: 10.1038/pr.2017.149. Epub 2017 Jul 26. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3 The type of OI was strongly associated with current walking ability, as was the presence of dentinogenesis imperfecta. Patients with type III and IV had a lower chance of ultimately walking compared with those with type I. Children with more than 2 intramedullary rods in the lower extremities had a reduced chance of walking than patients without rods

Dentinogenesis imperfecta type I (DGI-I) is also known as opalescent dentin, opalescent teeth with osteogenesis imperfecta, dentinogenesis imperfecta, Shields type I, usually is accompanied by an increase in the incidence of broken long bones of the legs and/or arms because of the increased brittleness of these bones Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions Figure 2 - The most severe nonlethal form of osteogenesis imperfecta, type III disease is characterized by severe bone fragility; multiple fractures; progressive marked deformity of the spine and long bones; and severe short stature associated with vertebral compression, kyphosis, deformity of limbs, and disrupted growth

Severe osteogenesis imperfecta Type-III and its

Type III: Autosomal recessive, qualitative disorder in collagen: normal: Fractures at birth. Progressively short stature. Most severe survivable form: Type IV: Autosomal dominant, qualitative disorder in collagen: normal: Moderate severity. Bowing bones and vertebral fractures are common. Hearing normal. Divided into type A and B based on tooth involvemen It affects about 10% of all persons with osteogenesis imperfecta. Type III causes many bone fractures, including ones that occur before birth. This type affects about 20% of all persons with osteogenesis imperfecta. Type IV is between Types I and III in severity Osteogenesis imperfecta Dokumentation nr 608 © Ågrenska 2020 5 Översikt och behandling vid Osteogenesis imperfecta - OI är en ovanlig medfödd kollagensjukdom som förekommer hos omkring 6-20 barn per 100 000 födda. Den medför bland annat skört skelett och ökad risk för frakturer The long-term prognosis for those with osteogenesis imperfect varies based on the Type. Type 1 lives a typical lifespan, with few medical issues. Type 2 is often fatal before or shortly after birth. Type 3 can result in deformities, health issues, and a shorter lifespan Type II forms of this genetic disorder occur in 1 out of 60,000 live births. 3. Type III happens in 1 out of 70,000 live births. 4. All other forms of OI are considered to be quite rare. 5. A higher incidence of Osteogenesis Imperfecta has been observed in 2 major tribal groups in Zimbabwe. 6

Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones. The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss Type 3 - The patient's bones fracture easily and are short stature. The rib cage is barrel-shaped, face is triangular, and the spine is curved. The sclera is tinted with purple, blue, or grey

Osteogenesis imperfecta type III - Conditions - GTR - NCB

Osteogenesis imperfecta can result from autosomal dominant inheritance of a defect in the amount of Type I collagen, an important part of the bone matrix. Clinical signs may result from defective osteoblastic activity and a defect of mesenchymal collagen (embryonic connective tissue) and its derivatives (sclerae, bones, and ligaments) INTRODUCTION. Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with many phenotypic presentations. It is often called brittle bone disease. Severely affected patients suffer multiple fractures with minimal or no trauma, and infants with the worst form of OI die in the perinatal period

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis,. Patients with type 3 osteogenesis imperfecta are generally diagnosed at birth due to multiple fractures. Many patients with this type of the disorder use wheelchairs or other mobility aids. Some are independent ambulators within the home. Use of assistive devices to independently perform activities of daily living is common abonarmilities in adults with osteogenesis imperfecta. Am Heart J. 2011; 161(3): 523-529. 3. Steiner RD, Adsit J, Basel D. COL1A1/2-Related osteogenesis imperfecta. 4. Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature. 1983; 304(5921. Children who have Type III osteogenesis imperfecta are born with fractures that cause moderate to severe abnormalities. X-rays might show healing fractures that happened before birth. With growth, further abnormalities develop, leading to limb shortening and bowing Osteogenesis imperfecta type 3. Osteogenesis imperfecta type III is characterized by extremely fragile bones, multiple fractures, and malformed bones. Multiple fractures are often present at birth

osteogenesis imperfecta type 3 (DOID:0110339) Alliance: disease page Synonyms: OI3; osteogenesis imperfecta type III; progressively deforming osteogenesis imperfecta with normal sclera Alt IDs: OMIM:259420, ICD10CM:Q78.0 Definition: An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene. Osteogenesis imperfecta (OI) phenotype is variable, ranging from osteoporosis presenting in adulthood to lethality in infancy. The two mildest forms, classic non-deforming OI and common variable OI, account for considerably more than half of all OI

Osteogenesis imperfecta - Netdokto

Dentinogenesis imperfecta type III is inherited as an autosomal dominant trait. The abnormal (mutated) gene has been tracked to a site on the long arm of chromosome 4 at band 21.3 (4q21.3). Interestingly, this gene is thought to code for two major dentin proteins — dentin sialoprotein and dentin phosphoprotein @FunsizedStyle is diagnosed with Osteogenesis Imperfecta Type III. At 21 years old she is 31 inches tall and has experienced about 100 fractures. We filmed.

Types of Osteogenesis Imperfecta. Type 1. Type 2. Type 3. Type 4. Sitemap. Types of Osteogenesis Imperfecta‎ > ‎ Type 3 This disease is milder than type one and type two. Infants born with this type have soft, fragile bones that fracture easily. Bones can be broken before birth with this type Osteogenesis imperfecta (OI) is a rare genetic disorder of the synthesis of collagen that affects bone and connective tissue that can also be referred to as brittle bone disease. OI can occur by both inheritance and spontaneous genetic mutation and has been linked to over 150 genetic mutations that all take effect on the genes COL1A1 and COL1A2. These are the genes that makeup type 1. TYPE 3 OSTEOGENESIS IMPERFECTA Most severe form noted in individuals beyond the prenatal period. Sclera of variable hue , limb shortening and progressive deformities and pulmonary hypertension. In utero fractures occur in 50% of cases. No hearing loss reported in this type. Both autosomal recessive and dominant patterns may occur Free Online Library: Osteogenesis imperfecta type 3 in South Africa: causative mutations in FKBP10.(RESEARCH, Report) by South African Medical Journal; Health, general Care and treatment Diagnosis Researc

Osteogenesis imperfecta 1. Osteogenesis Imperfecta Dr.Ijaz Wazir 2. Historical Background Osteogenesis means formation of bone Imperfecta is Spanish for not perfect Found in Ancient Egyptian Mummy from 1000 BC Osteogenesis Imperfecta first used in 1895 Also called Brittle Bone disease Glass Bone disease Ekman Lobstein syndrome 3 Type I OI. Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily. OI is highly variable. Its signs and symptoms range from mild to severe. In addition to fractures (broken bones), people with OI sometimes have muscle weakness, loose joints. Today I discuss how to get into weightlifting. I also mention how I got started, what I used to train with and much more. If you enjoyed please like subscribe and leave a comment! Sharing is also. osteogenesis imperfecta type 3 - Ontology Report - Rat Genome Database × Welcome {{ username}} Message Center {{ messageCount }} Messages. Go to. 618644 - OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 Moosa et al. (2019) reported 5 probands from consanguineous families who were clinically diagnosed with a progressive deforming type of osteogenesis imperfecta. Fractures were observed prenatally in 2 patients, and all had a fracture within the first 2 years of life

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Osteogenesis Imperfecta Foundation • 656 Quince Orchard Rd., Suite 650 • Gaithersburg, MD 20878 www.oif.org • Bonelink@oif.org • 844-889-7579 • 301-947-0083 Serving the OI community with information and support since 1970 Type V Key Principles and Therapeutic Strategies 3 What is Osteogenesis Imperfecta (OI)? Osteogenesis imperfecta (OI) is a rare, complicated and variable disorder. Its major feature is a fragile skeleton, but many other body systems are also affected. OI is caused by a mutation (change) in a gene that affects bone formation Because osteogenesis imperfecta (OI) is a genetic condition, it has no cure. For many years, surgical correction of deformities, physiotherapy, and the use of orthotic support and devices to assist mobility (eg, wheelchairs) were the primary means of treatment. [] Subsequently, as a consequence of improved understanding of the molecular mechanisms of OI, medical treatments aimed at increasing. TYPE 3 DENTINOGENESIS IMPERFECTA FREE DOWNLOAD PDF DOC ZIP 2019 2020 . Chediak higashi syndrome, Phenylketonuria, Dentinogenesis , Dentinogenesis imperfecta , Amelogenesis imperfecta Wikipedia , Osteogenesis imperfecta †Medlibes: Online Medical Library , osteogenesis imperfecta Humpath.com Human pathology , Dentinogénesis Imperfecta , Inherited CT disorders Pre clinical Sciences Prcr.

Osteogenesis imperfecta (OI) is a hereditary disorder characterized by increased tendency for bone fractures due to high fragility. The clinical and radiological features of OI manifest in different age groups, although the disease is congenital in nature. Besides bone fragility, features like laxity of the ligaments, blue sclera, growth retardation, and scoliosis are also observed OI type II is the most severe type of osteogenesis imperfecta. Affected infants often experience life-threatening complications at, or shortly after, birth. Infants with OI type II have low birth weight, abnormally short arms and legs (limbs), and bluish discoloration of the whites of the eyes (blue sclera) 2. Osteogenesis Imperfecta Type II. This is the most severe type of osteogenesis Imperfecta. Its characteristics include: Deformed collagen. It's chronic at birth or shortly after birth because of respiratory failures. Underdeveloped lungs. Severe bone fractures. Discoloured sclera. 3. Type II Clinical Healthcare providers that have indicated some interest in or specialize in Osteogenesis imperfecta type 3. Not all clinicians accept new patients at all times, so keep this in mind when trying to contact them. This list is currently limited to a few hospitals and diseases, but will be expanded on in the near future Osteogenesis Imperfecta (OI) is a group of inherited disorders of connective tissue caused by mutations in one of the two genes encoding for type 1 collagen. 1 Clinical features include bone fragility and low bone mass resulting in bone fractures, bone deformity, and growth impairment

Prajnya Ranganath, Joshi Stephen, Raju Iyengar and Shubha R. Phadke, Worsening of callus hyperplasia after bisphosphonate treatment in type V osteogenesis imperfecta, Indian Pediatrics, 10.1007/s13312-016-0830-3, 53, 3, (250-252), (2016) Synonyms: OI3; osteogenesis imperfecta type III; progressively deforming osteogenesis imperfecta with normal sclera; Definition: An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3

Medfödd benskörhet - Osteogenesis imperfecta - 1177 Vårdguide

The characteristics of this type of Osteogenesis Imperfecta include: Deformed collagen. Kyphosis (spinal curvature). Discoloured sclera ( blue, purple, grey). Triangular-shaped faced. Severe bone deformation. Hearing problems. Poor muscle tone in arms and legs. Possible respiratory problems.. Type III: Infants with OI Type III are typically born having already experienced fractures in utero. A shorter stature, curved spine, rounded rib cage and other bone conditions are characteristic of Type III OI Osteogenesis imperfecta (OI) är en genetisk sjukdom som beror på en mutation i genen för kollagen. Sjukdomen är ärftlig och innebär framförallt olika grader av benskörhet. De som drabbas av de svårare formerna dör i spädbarnsstadiet medan de lindrigast drabbade lever ett helt normalt liv, med något fler benbrott än andra

Osteogenesis imperfecta - Wikipedi

Subsequently, in 1833, Jean Lobstein described osteogenesis imperfecta type I as Lobstein's disease, and in the 1850s, Willem Vrolik described osteogenesis type II in what is currently known as Vrolik's disease. Osteogenesis imperfecta is most often caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. [1] [2] It is also called brittle bone disease. It is characterized by an increased susceptibility to bone fractures and decreased bone density Osteogenesis Imperfecta (OI) is a heterogeneous group of rare connective tissue hereditary diseases responsible for fragility and bone deformity. OI is caused by an autosomal dominant mutation of COL1A1 or COL1A2, encoding α1 and α2 of the collagen, regardless of their phenotypic severity (1 to 5 OI type) Osteogenesis imperfecta (OI) är en sällsynt och ärftlig kollagen typ 1 bindvävssjukdom. Den kliniska bilden är mycket varierande från svårare former där barnet föds med multipla frakturer och böjda extremiteter till mycket lindriga former med få eller inga frakturer men ofta en viss tendens till kortvuxenhet Here Are 10 Famous People With Osteogenesis Imperfecta (Brittle Bone Disease): #1 Atticus Shaffer. He is an American actor who is best known for voicing Edgar in the film Frankenweenie (2012), as well as for portraying Brick Heck on the sitcom The Middle. He also appeared in Hancock (2008). Atticus has type IV OI. #2 Nabil Shaba

A case of reversible lactic acidosis has been described in a child with osteogenesis imperfecta of type 3 during total IV anesthesia (but with high doses of propofol and a long [17 hours] fasting period): the long fasting period has probably been the triggering factor Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms Type 3 OI. Type 3 OI is also a severe form of brittle bone disease. It causes bones to break easily. In type 3 OI, your child's body produces enough collagen but it's poor quality

Osteogenesis imperfecta Type 3. Type 3 or Type III osteogenesis imperfecta causes severe bone deformities. Fractures are very common and many babies are born with bones already broken. This type of disease can also cause discolored sclerae, short height, spine deformities like scoliosis, problems with breathing, and teeth that break easily ITGB1BP1 (ENSG00000119185) is associated with Osteogenesis imperfecta type 3 (Orphanet_216812) through evidence in the Open Targets Platform from GWAS, clinical trials, differential expression experiments, pathways, text mining and experiments in animal models A case of osteogenesis imperfecta type 3 was confirmed, clinically severe. Many thanks to Dr Saman Perera, Consultant Radiologist Patients with Osteogenesis Imperfecta (OI) Type 3 may exhibit both primitive deformities and secondary fracture malunions on a femoral level

Osteogenesis imperfecta (OI), colloquially known as brittle bone disease, is a broad term for a group of congenital disorders affecting the connective tissue resulting in a susceptibility to fractures. In 1979, Sillence et al. conducted an epidemiological and genetic study of OI patients [ 1 ] Type I osteogenesis imperfecta is the most common, found in one in 30,000 live births; osteogenesis imperfecta type II, the most severe form, is happily the rarest. Osteogenesis imperfecta affects males and females in equal numbers. In most cases, osteogenesis imperfecta is inherited in an autosomal dominant pattern Abstract. Osteogenesis imperfecta (OI) is commonly subdivided into four clinical types. Among these, OI type IV clearly represents a heterogeneous group of disorders. Here we describe 7 OI patients (3 girls), who would typically be classified as having OI type IV but who can be distinguished from other type IV patients

Osteogenesis imperfecta: Die GlasknochenkrankheitCASIMIRO RADIACTIVO: CASO CLÍNICO DE LA SEMANA IV (Case ofDiagnostik und Therapie der Osteogenesis imperfectaOrthoforum Osteogenesis imperfectaVypracované otázky z Ortopedie, TraumatologieGenetic Newsletter 3/2017 - LABOKLIN sEhlers-Danlos-Syndrom klassischer Typ (cEDS): Labor

Type III. The next among osteogenesis imperfecta types is Type III which is a severe form of OI. Patients with this form of the disease have a relatively high frequency of fractures and exhibit a short stature. They may also suffer from dental problems and hearing loss. Type II. The most severe among osteogenesis imperfecta types is II An investigation by McAllion and Paterson into the causes of death in OI showed an excess of cardiopulmonary disease in patients with Type III OI, which was felt to be related to alteration in.. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans Hum Mutat , 28 ( 3 ) ( 2007 ) , pp. 209 - 22 Labuda M, Morissette J, Ward LM, Rauch F, Lalic L, Roughley PJ, et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. 2002 Jul. 31 (1):19-25

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