- [A case of peripheral retinal telangiectasis complicated by retinal detachment]. [Letter]
- JFJ Fr Ophtalmol 2019 Jun 13
- [Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)]. [Journal Article]
- OHOrv Hetil 2019; 160(18):710-719
- CONCLUSIONS: The significance of genetic testing is confirming or excluding HHT in young asymptomatic individuals in families with pathogenic mutations. As ENG and ACVRL1 mutations result in overlapping fenotypes, the genetic testing lacks any prognostic value. The identification of founder effects might simplify the genetic diagnosis of new HHT patients from a given region. Orv Hetil. 2019; 160(18): 710-719.
- Palmar telangiectasia is associated with the intensity of smoking. [Letter]
- JBJ Bras Pneumol 2019 Apr 18; 45(2):e20180273
- [Ataxia Telangiectasia]. [Journal Article]
- BNBrain Nerve 2019; 71(4):380-382
- Ocular telangiectasias are pathognomonic of ataxia telangiectasia (AT), and they usually appear after 6 years of age. Skin and visceral telangiectasias may appear with advancing age. They may represe…
Ocular telangiectasias are pathognomonic of ataxia telangiectasia (AT), and they usually appear after 6 years of age. Skin and visceral telangiectasias may appear with advancing age. They may represent a progeric change. When present, ocular telangiectasias facilitate the clinical diagnosis of AT, but they are minimally present or absent in milder variants.
- Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia. [Journal Article]
- JPJ Pediatr Hematol Oncol 2019 Mar 29
- Ataxia-telangiectasia (AT) is a hereditary recessive autosomal disorder following a course of progressive cerebellar ataxia, and oculocutaneous telangiectasia. Disease-specific telangiectasias are ge…
Ataxia-telangiectasia (AT) is a hereditary recessive autosomal disorder following a course of progressive cerebellar ataxia, and oculocutaneous telangiectasia. Disease-specific telangiectasias are generally localized in the oculocutaneous region, while telangiectasias located within the bladder are rarely seen in patients with AT. The patient who had been followed-up with a diagnosis of AT since the age of 3 years was later diagnosed with acute lymphoblastic leukemia at the age of 8 years. The patient developed hematuria approximately in the 29th month of treatment. The cystoscopy revealed regions of extensive hemorrhagic telangiectasis, which was interpreted as the bladder involvement of AT. The case presented here underwent several cycles of intravesical steroid and tranexamic acid treatments and intravesical cauterization procedures, but the patient was unresponsive to all medical treatment approaches. The patient was consequently evaluated by an interventional radiology unit for a selective arterial embolization. The patient's hematuria resolved after embolization. Bladder wall telangiectasia may, on rare occasions, develop in patients with AT, and can result in life-threatening hemorrhages. We also suggest that a selective arterial embolectomy can be safely carried out in pediatric patients with treatment-resistant intravesical bleeding.
- Recent advances in the diagnosis and treatment of Coats' disease. [Review]
- IOInt Ophthalmol 2019; 39(4):957-970
- CONCLUSIONS: Early diagnosis and timely treatment based on clinical stage are critical to retaining the patient's visual function. Patients should be aware that close long-term follow-up is necessary.
- [Robot-Assisted Laparoscopic Prostatectomy for Patient with Hereditary Hemorrhagic Telangiectasia: A Case Report]. [Case Reports]
- HKHinyokika Kiyo 2018; 64(12):505-508
- A 69-year-old man who had a history of several nasal hemorrhages and transfusions presented with hereditary hemorrhagic telangiectasia. He was referred to the previous hospital due to the elevation o…
A 69-year-old man who had a history of several nasal hemorrhages and transfusions presented with hereditary hemorrhagic telangiectasia. He was referred to the previous hospital due to the elevation of prostate specific antigen (PSA) to 17.2 ng/ml, and was diagnosed with prostate cancer (cT3aN0M0, Gleason 4 + 5). He was referred to our hospital for the treatment of prostate cancer. Contrast lung computed tomography and brain magnetic resonance imaging did not show arteriovenous fistula in either the lung or brain. Upper gastrointestinal endoscopy showed capillary dilatations in the gastric mucosa. Robot-assisted laparoscopic prostatectomy with Trendelenburg position under general anesthesia was performed. Tracheal intubation was made using bronchofiberscopy. A gastric tube was not inserted. Intra- and postoperative course was uneventful, and there has been no elevation of PSA during the eight months followed.
- Glucose as a cause of and treatment for cutaneous necrosis. [Case Reports]
- JVJ Vasc Bras 2018 Oct-Dec; 17(4):341-347
- Sclerotherapy remains one of the procedures most frequently performed by Brazilian vascular surgeons. Knowledge of its complications is indispensable to enable us to avoid them. The severe side effec…
Sclerotherapy remains one of the procedures most frequently performed by Brazilian vascular surgeons. Knowledge of its complications is indispensable to enable us to avoid them. The severe side effects of this method of treatment for telangiectasias of the lower limbs are rare and are often associated with technical errors or the dose injected. Complications are predominantly local, but are sometimes difficult to resolve. We report a case of formation of cutaneous necrosis after chemical sclerotherapy using hypertonic glucose (75%), which healed when treated with a topical preparation containing vaseline and 60% glucose, with satisfactory esthetic results.
- [Multiple ischemic stroke in Osler-Rendu-Weber disease]. [Case Reports]
- ISIdeggyogy Sz 2019 01 30; 72(1-2):65-70
- Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformatio…
Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.
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- Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia. [Case Reports]
- GENEGene 2019 May 15; 696:33-39
- Hereditary hemorrhagic telangiectasia (HHT) is a vascular rare disease characterized by nose and gastrointestinal bleeding, skin and mucosa telangiectasias, and arteriovenous malformations in interna…
Hereditary hemorrhagic telangiectasia (HHT) is a vascular rare disease characterized by nose and gastrointestinal bleeding, skin and mucosa telangiectasias, and arteriovenous malformations in internal organs. HHT shows an autosomal dominant inheritance and a worldwide prevalence of approximately 1:5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG (HHT1) or ACVRL1 (HHT2) genes, which code for the membrane proteins Endoglin and Activin A Receptor Type II-Like Kinase 1 (ALK1), respectively, both belonging to the TGF-β/BMP signaling pathway. In this work, we describe a novel mutation in exon 9 of ENG (c.1145 G > A) found in five affected members of a family, all of them with characteristic symptoms of HHT. This mutation involves Cys382 residue of the Endoglin protein (p.Cys382 > Tyr) in the zona pellucida (ZP) module of its extracellular region. This is a critical residue involved in a conserved intrachain disulphide bond and in the correct folding of the protein. In fact, transfection studies in human cells using Endoglin expression vectors demonstrated that the p.Cys382 > Tyr mutation results in a marked reduction in the levels of the Endoglin protein. These results demonstrate the pathogenic role for this variant in HHT1 and confirm the key function of Cys382 in Endoglin expression.