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Von hippel lindau

Von Hippel Lindau (VHL) Disease - Retina Image Bank

A síndrome de von Hippel Lindau ou VHL é uma angioblastomose cerebelorretiniana, autossômica dominante. A Síndrome de von Hippel-Lindau é uma doença genética rara que envolve o crescimento anormal de tumores em partes do corpo particularmente irrigadas por sangue. [1] [2] [3]É caracterizada pela presença de hemangioblastomas e carcinoma renal (carcinoma renal de células claras. Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.. Tumors called hemangioblastomas are. Doença de von Hippel-Lindau - A doença de von Hippel-Lindau é uma condição genética rara, caracterizada pela predisposição para desenvolver alguns tipos de tumores malignos e benignos durante a vida, principalmente tumores dos vasos sanguíneos e cistos preenchidos por líquidos, em vários órgãos, principalmente rins e pâncreas

Síndrome de Von Hippel-Lindau - Wikipédia, a

O teste molecular de diagnóstico para a síndrome de Von Hippel Lindau chegou ao Brasil em 1998, sendo que, desde então, as famílias portadores desta patologia vêm sendo acompanhadas em centros de Genética distribuídos pelo país. A escolha de tratar ou monitorar o tumor fica na dependência de suas dimensões e localização Doença de von Hippel-Lindau Prof. Dr Madson Almeida A doença de Von Hippel-Lindau (VHL) é uma síndrome de neoplasia múltipla com herança autossômica dominante e caracterizada por tumores altamente vascularizados dos olhos, cérebro e medula (hemangioblastomas), cistos e tumores malignos renais (carcinom What is von Hippel-Lindau syndrome?Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. Tumors in VHL include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. The eye tumors are also called retinal angiomas Symptoms of von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia).Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina) Function. Von Hippel-Lindau syndrome (VHL) is a dominantly inherited hereditary cancer syndrome predisposing to a variety of malignant and benign tumors of the eye, brain, spinal cord, kidney, pancreas, and adrenal glands. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. Individuals with VHL syndrome inherit one mutation in the VHL protein that causes.

Von Hippel-Lindau syndrome - Genetics Home Reference - NI

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is.. Von Hippel-Lindau's disease: report of three cases and review of the literature. Arq Neuropsiquiatr 1995;53(4):782-8. [ Links ] 12. Choyke PL, Glenn GM, Walther MM, Zbar B, Weiss GH, Alexander RB, et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. Am J Roentgenol 1992;159(6):1229-34 Syndrom von Hippel-Lindau je dědičné onemocnění AD, při kterém dochází k mutaci VHL genu (3p 25). Produkt genu VHL, VHL protein, váže HIF (hypoxia-inducible factor) faktory. Klinický obraz [upravit | editovat zdroj]. Zahrnuje tvorbu angiofibromů a hemangioblastomů v sítnici a mozečku. Časté jsou i feochromocytomy a fibromy kůže. U cca 2/3 postižených jsou přítomné. What is Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract Von Hippel-Lindaun oireyhtymä on vallitsevasti periytyvä sairaus, joka ilmenee alttiutena saada kasvaimia eri puolille kehoa. Oireyhtymä on nimetty Eugen von Hippelin ja Arvid Lindaun mukaan.. Von Hippel-Lindaun oireyhtymän aiheuttaa yhden geenin poikkeavuus kromosomin 3 lyhyessä haarassa. Enintään 150 suomalaisen arvioidaan kärsivän taudista. Koko maailmassa taudista kärsii yksi.

Doença de von Hippel-Lindau - Sinais, Sintomas e Doenças

Síndrome de Von Hippel Lindau - Doenças - InfoEscol

  1. ant manner. The disease is characterized by hemangioblastomas or slow-growing vascular tumors of the.
  2. von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems that have subsequent potential for malignant change. Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (bl..
  3. ant disorder that causes retinal hemangioblastomas, hemangioblastomas of the central nervous system, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas, among other less common manifestations
  4. La enfermedad de von Hippel-Lindau (VHL) es causada por una mutación patogénica en el gen VHL. Este gen es un gen supresor tumoral , un tipo de gen que ayuda a controlar el crecimiento celular. Las mutaciones en el gen VHL llevan a falta de regulación del crecimiento y de la supervivencia celular, lo que resulta en que las células crezcan y se dividan sin control
  5. Von Hippel-Lindau (VHL) disease is an inherited disorder causing multiple tumours, both benign and malignant in the central nervous system (CNS)
  6. Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear

von Hippel-Lindau (VHL) disease is classified into 2 general types based on risk of pheochromocytoma, that are each divided into subtypes, based on risk of renal cell carcinoma 1,2,3 Table 1. Clinical Classification of von Hippel-Lindau Disease Subtype Von Hippel Lindau disease is an inherited mutation of the von Hippel Lindau gene, which is a protein in the body's cells. It can affect several different parts of the body and cause several types of problems Von Hippel-Lindau disease is a disease that results from a mutation on the Hippel-Lindau tumor suppressor gene. It is characterized by cancerous and noncancerous tumors and cysts frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life Von Hippel-Lindau(フォン・ヒッペル・リンドウ、VHL)病(平成21年度) Von Hippel-Lindau(ふぉん・ひっぺる・りんどう、VHL)びょう 研究班名簿 一覧へ戻

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant , neurocutaneous disorder , have high incidence of multiple cysts in variety of organs , and tumor association • Kidneys 75% •Liver and spleen 50 % •Pancreas cysts ,insufficiency and DM •RCC 25-40 % multifocal 75 % •Cerebellar Hemangioblastoma •Retinal angioma •Pancreatic adenocarcenoma & adenoma •Epidyimal cyst adenoma. Doença de von Hippel-Lindau - Aprenda sobre causas, sintomas, diagnóstico e tratamento nos Manuais MSD - Versão Saúde para a Família von Hippel-Lindau (VHL) disease (MIM Number 193300) is an autosomal dominantly inherited neoplastic disorder that demonstrates marked phenotypic variability and age-dependent penetrance Von Hippel-Lindau disease, or VHL, is a genetic disease that affects people of all ethnicities and is characterized by tumor development in the CNS, kidneys, adrenal glands and pancreas See the worst symptoms of affected by Von Hippel-Lindau Disease her

VON HIPPEL LINDAU, SÍNDROME. Você está em: Home / Exames / Von Hippel Lindau, Síndrome. Von Hippel Lindau, Síndrome. VOLTAR. 1) Sequenciamento do gene VHL . 2) MLPA (deleções e/ou duplicações) do gene VHL. TIPO E QUANTIDADE DE MATERIAL 4 ml de sangue em EDTA PRAZO DE. Features of von Hippel-Lindau disease can be remembered by the mnemonic: HIPPEL Mnemonic H: hemangioblastoma I: increased risk of renal cell cancer P: pheochromocytoma P: pancreatic lesions (cyst, cystadenoma, cystadenocarcinoma) E: eye dy..

Von Hippel-Lindau Syndrome Cancer

  1. Von Hippel-Lindau syndrome is caused by alterations, also known as mutations, at specific areas within an individual's genetic information. Each of us has a large amount of genetic information that is organized into smaller segments known as genes
  2. ant syndrome manifested by a variety of benign and malignant tumors. VHL is diagnosed in approximately 1 in 36,000 people [ 1-3 ]. The initial manifestations of disease can occur in childhood or adolescence, or later (mean age approximately 26 years)
  3. Neurofibromatosis Type 1 (Von Recklinghausen Disease) Neurofibromatosis Type 2 von Hippel-Lindau Disease Retinoblastoma Vestibular Schwannoma (Acoustic Neuroma) Ear, Nose, and Throat Pleomorphic Adenoma.
  4. Retinal capillary hemangioblastomas (RCH) (also known as retinal angiomas) can be a a sign of a von Hippel-Lindau (VHL) disease although they may also be observed as an isolated entity without systemic involvement. RCH is the most frequent and earliest manifestation of the VHL disease and therefore an ophthalmologist is often involved in the care of these patients
  5. ant trait with variable penetrance. The VHL gene is located on the short arm of chromosome 3 (3p25.3). Over 1500 different mutations in this gene have been identified in patients with VHL

Von Hippel-Lindau disease Genetic and Rare Diseases

Von Hippel-Lindau tumor suppressor - Wikipedi

How to say Von Hippel-Lindau in English? Pronunciation of Von Hippel-Lindau with 1 audio pronunciation, 4 translations and more for Von Hippel-Lindau Von Hippel-Lindau syndrome (VHLS) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors

von Hippel-Lindau disease An autosomal dominant genetic disorder with incomplete penetrance due to a mutation on chromosome 3. The principal feature is a single or multiple tumour of blood-forming tissue (haemangioblastoma) in the retina, the cerebellum, the brainstem or the spinal cord von Hippel Lindau disease is a genetic condition that runs in families. If you have von Hippel Lindau disease, or if you have a family history of the disease, we recommend genetic counseling. Visit our genetic testing page to learn more von Hippel-Lindau syndrome. Sagittal vertebral angiogram of the same patient as in the previous 3 images shows a hypervascular intramural nodule (open arrow) that demonstrates a prolonged and intense enhancement with a surrounding avascular area, representing the cyst surrounding the mural nodule (solid arrows)

Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant syndrome that is associated with the development of tumors in a variety of organ systems, most commonly hemangioblastoma of the central nervous system and retina. 1 The ocular manifestations of the disease were first independently described by 2 ophthalmologists, Treacher Collins in 1894 2 and Eugene von Hippel in 1904. 3 Both. Von Hippel-Lindau Syndrome (Angiomatosis) Description Von Hippel-Lindau syndrome is an inherited multi-system disorder characterized by abnormal growth of blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas; true tumours,.. Summary. Von Hippel = Eugene von Hippel, the doctor who described the retinal tumors common in this condition Lindau = Arvid Lindau, the doctor who described the association with other tumors. Von Hippel Lindau Disease (VHL) is a rare, multisystem syndrome characterized by tumors or cysts that grow in the eye, central nervous system, liver, pancreas, and/or kidneys Von Hippel-Lindau syndrome (VHL), a multisystem neoplastic disorder, most commonly presents with a cerebellar or retinal hemangioblastoma. The hormonal and hemodynamic changes in pregnancy accelerate the growth of hemangioblastomas, leading to increased symptoms and consequent risk to the mother and fetus

About Von Hippel-Lindau (VHL) Disease. Von Hippel-Lindau disease (VHL) is a rare genetic disorder characterized by abnormal growth of blood vessels and benign or cancerous tumor development in various organs, including the following The von Hippel-Lindau Tumor Suppressor Protein Is a Component of an E3 Ubiquitin-Protein Ligase Activity. Lisztwan, Joanna, Georges Imbert, Christiane Wirbelauer, Matthias Gstaiger, and Wilhelm Krek. 1999. Hypoxia, Hypoxia-Inducible Transcription Factors, and Renal Cancer Prognosis for Von Hippel-Lindau Disease: The prognosis for patients with VHL depends on the location and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved Doctors for Von Hippel-Lindau Disease: This section presents information about some of the possible medical professionals that might be involved with Von Hippel-Lindau Disease. Ask your doctor to recommend what other types of doctors, physicians, medical specialists, or other medical professionals should be part of the team for your medical issues

Von Hippel-Lindau disease Radiology Reference Article

Von hipple-Lindau Disease ( VHL ) - Case based discussion USMLE - Duration: 5:28. Dr.G.Bhanu Prakash - Usmle , FMGE and Neet PG 5,195 view Von Hippel-Lindau syndrome (VHL) is a hereditary tumor syndrome characterized by the development of cysts and tumors throughout the body.Although most of the tumors are benign, individuals with VHL have an increased risk of several types of cancer, including renal carcinoma and pancreatic neuroendocrine tumors. A hallmark feature of the condition is the development of a type of benign tumor. von Hippel-Lindau (VHL) disease is a rare, inherited, multisystem disorder that is characterized by development of a variety of benign and malignant tumors. Inheri-tance is autosomal dominant with high penetrance and variable expression, and the condition is associated with inactivation of a tumor suppression gene located on chro Como mencionado acima, VHL é usado como um acrônimo em mensagens de texto para representar gene de von Hippel-Lindau. Esta página é toda sobre o acrônimo de VHL e seus significados como gene de von Hippel-Lindau. Por favor, note que a gene de von Hippel-Lindau não é o único significado da VHL

Retinal Capillary Hemangioma in von Hippel-Lindau Disease

Síndrome de von Hippel-Lindau - SciEL

Se você estiver visitando nossa versão não-inglesa e quiser ver a versão em inglês de Von Hippel-Lindau, por favor, role até o fundo e verá o significado de Von Hippel-Lindau em inglês. Tenha em mente que a abreviatura de VHL é amplamente utilizada em setores como bancos, computação, educação, finanças, governamentais e de saúde Screening for von Hippel-Lindau Active surveillance is a patient's best defense to prevent severe von Hippel-Lindau complications. Close monitoring and regular screening for new tumor growth are an important part of your von Hippel-Lindau (VHL) care plan, ensuring treatment can be provided as early as possible.. We offer the most advanced diagnostic methods for von Hippel Lindau disease.

Syndrom von Hippel-Lindau - WikiSkript

von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3. This disorder is not rare (about one in 36 000 livebirths) and is inherited as a highly penetrant autosomal dominant trait (ie, with a high individual risk of disease) Von Hippel-Lindau syndrome is caused by a flaw in one gene, the VHL gene, which regulates cell growth. This flaw, for which the cause is unknown, leads to the abnormal growth of blood vessels in certain parts of the body Background Information for von Hippel-Lindau (VHL) Sequencing:Characteristics of von Hippel-Lindau (VHL) Syndrome: Retinal, cerebellar or spinal hemangioblastoma; renal cell carcinoma; pheochromocytoma; endolymphatic sac tumors; pancreatic endocrine tumors, and hemangiomas of adrenals, lungs, and liver. Characteristics of Congenital Polycythemia: Increased serum erythropoietin levels and. The Danish Association Of Von Hippel Lindau Patients And Their Relatives. Email: info@vhl.dk. Phone number: +4536948394 . National alliance: No . Federation: No . País: Denmark . Membership type: Full member <DATA>Von Hippel-Lindau disease</DATA> Verein VHL (Von Hippel. Find high-quality Von Hippel Lindau stock photos and editorial news pictures from Getty Images. Download premium images you can't get anywhere else

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of VHL gene is the basis of familial inheritance of VHL syndrome Von-Hippel-Lindau (VHL) syndrome is an autosomal dominant disease caused by germline mutation in VHL tumor suppressor gene.. The disease, which was first described by Eugen von Hippel and Arvid.

Von Hippel-Lindau Disease: MedlinePlu

Von Hippel-Lindau syndrome (VHLS) is a genetic disorder with autosomal dominant inheritance. Symptoms usually begin in childhood or early adolescence and there is usually a family history. Mutations in the Von Hippel-Lindau (VHL) gene (3p25) impart increased susceptibility to a variety of tumors, benign and malignant The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with differe Doença de von Hippel - Lindau e Hemangioblastoma Capilar . A doença de von Hippel - Lindau (DvHL) é autossômica dominante, com incidência entre 1:36.000 e 1:45.500 indivíduos na população geral, caracterizada por hemangioblastomas capilares do SNC e/ou retina, carcinoma de células renais, feocromocitoma e cistos viscerais. Lindau descreveu o hemangioblastoma capilar em 1926 e notou.

Among these are patients with predisposing genetic disorders such as Von Hippel-Lindau disease and patients with end-stage renal disease subjected to dialysis within 3 to 5 years imagenmed.com Consideram-se como tais alguns trastornos genéticos predisponentes como a doença de Von Hippel-Lindau e os pacientes com doença renal terminal submetidos a diálises durante pelo menos 3 a 5 anos title = Von Hippel-Lindau disease, abstract = An autosomal dominant tumor predisposition syndrome, von HippeI-Lindau disease (VHL) is characterized by the presence of benign and malignant tumors. Hallmark lesions include retinal angiomas, hemangioblastomas of the cerebellum and spinal cord, and renal cell carcinomas Von Hippel-Lindau Disease. Moises Dominguez 0 % Topic. Review Topic. 0. 0. 0 % 0 % Questions. 3 3. 0. 0. 0 % 0 % Evidence. 2 2. 0. 0. Snapshot: A 27-year-old male presents with an unprovoked convulsive episode. Medical history is noncontributor y. Family. A doença de von Hippel-Lindau (VHL) é uma doença multissistémica tumoral rara com fre- quentes, precoces e graves manifestações oftalmológicas. O objectivo deste artigo é apresentar um caso clínico revelador das manifestações oftalmológicas e sistémicas da doença de VHL. Métodos: Doente do sexo feminino de 22 anos, saudável, observada em 1998 por manifestações neurológicas. Von Hippel Lindau. 60 likes. Maladie de Von Hippel-Lindau

von Hippel Lindau screening clinic. We provide a one-stop von Hippel Lindau screening clinic for patients who live within our regional genetics service area. This covers patients who live in south east London, East Sussex and Kent. Please check patient's GP postcode falls within our area (PDF 26Kb). Staff detail e following search terms: von Hippel-Lindau, von Hippel-Lindau disease, and VHL. Of 6,696 publications, the most current and pertinent information related to the pathogenesis and systemic aspects of VHL disease were included in this review. Results: von Hippel-Lindau disease is one of the most frequently occurring multisystem familial cancer syndromes. The disease results from germline. Von Hippel-Lindau disease is a genetic disorder caused by a mutation on the third chromosome. In healthy individuals, the chromosome has a Von Hippel-Lindau tumor suppressor, while individuals with the disorder are lacking this suppressor Von Hippel-Lindau disease (VHL) is a genetic condition that causes abnormal blood vessel growth throughout different areas of your body. These abnormal growths can further develop into tumors and cysts. VHL is caused by a mutation in the gene that controls cell growth, located on your third chromosome

Von Hippel-Lindaun oireyhtymä - Wikipedi

A Síndrome de Von Hippel-Lindau ou Doença de Von Hippel-Lindau é uma condição patológica genética que está associada a tumores dos vasos sanguíneos do cérebro, da medula espinhal ou dos olhos. Os tumores que são formados no olho são também chamados de angiomas da retina Von Hippel-Lindau disease Definition. Von Hippel-Lindau disease (VHL) is a hereditary condition that involves cancer and can affect people of all ages. It was named after the physicians to first describe aspects of the condition in the early 1900s, German ophthalmologist Eugen von Hippel and Swedish pathologist Arvid Lindau The von Hippel-Lindau disease is caused by inactivating germline mutations of the VHL tumour suppressor gene and is associated with an increased risk of a variety of tumours in an allele.

Morbus Hippel-Lindau - Wikipedi

A genetic register for von Hippel-Lindau disease was set up in the north west of England in 1990. Population statistics, clinical features, age at onset, and survival of 83 people affected with von Hippel-Lindau (VHL) disease were studied Original Article from The New England Journal of Medicine — Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and von Hippel-Lindau Diseas von Hippel-Lindau (VHL) disease is an autosomal dominant multisystem cancer predisposition disorder caused by germline mutations in the VHL tumour suppressor gene [1, 2].Up to 20% of cases are due to de novo pathogenic variants and therefore have no family history [].VHL disease demonstrates age-dependent and incomplete penetrance and variable expression [4,5,6]

Scleral buckle is more cost effective than vitrectomy forThe Pancreas | Radiology KeyMechanisms of Morbid Hearing Loss Associated With TumorsTumeurs neuro – Rachidiennes intra-canalaires [algorithmeOphthalmic Pathology - StudyBlueNeuroradiology On the Net: Choroid plexus papilloma

A von Hippel-Lindau (VHL) betegség egy ritkán előforduló örökletes rendellenesség, amelyet egy hibás gén okoz. A hibás gén még nem jelent betegséget, csak a megbetegedés kockázatát hordozza magában. A betegséget az után a két orvos után nevezték el, akik azt felfedezték Von Hippel (-Lindau) disease or syndrome References in the ICD-10-CM Index to Diseases and Injuries. References in the ICD-10-CM Index to Diseases and Injuries applicable to the clinical term von hippel (-lindau) disease or syndrome Von Hippel (-Lindau) disease or syndrome - Q85.8 Other phakomatoses, not elsewhere classifie ciados à Síndrome de von Hippel-Lindau em 20% e esporádicos em 80% dos casos (5). Ocorrem em 44% dos casos de von Hippel-Lindau. Os tumores são múltiplos em 42% dos casos e, em todas essas ocasiões, sempre estão associados a von Hippel-Lindau. A idade média de diagnóstico é de 39 anos, podendo variar de 12 a 73 anos (6)

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