Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria
We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.PMID:36734461 | ...
Source: Orbit - February 3, 2023 Category: Opthalmology Authors: Tomas Mickevicius Christoph Holtmann Jutta Draganov Jennifer Prues-Hoelscher Gerd Geerling Maria Borrelli Source Type: research
Cancers, Vol. 15, Pages 795: Comment on Ramai et al. Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review. Cancers 2022, 14, 2947
an Wahlin
We read with interest this review by Ramai et al. [...] (Source: Cancers)
Source: Cancers - January 28, 2023 Category: Cancer & Oncology Authors: Mattias Lissing Daphne Vassiliou Pauline Harper Eliane Sardh Staffan Wahlin Tags: Comment Source Type: research
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review
The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase. Acute intermittent porphyria is the most common type of AHP, with an estimated prevalence of patients with symptoms of approximately 1 in 100,000. The major clinical presentation involves attacks of severe pain, usually abdominal and generalized, without peritoneal signs or abnormalities on cross-sectional imaging. (Source: Gastroenterology)
Source: Gastroenterology - January 13, 2023 Category: Gastroenterology Authors: Bruce Wang, Herbert L. Bonkovsky, Joseph K. Lim, Manisha Balwani Tags: Clinical Practice Update Source Type: research
Population Pharmacokinetic Analysis of the RNAi Therapeutic Givosiran in Patients with Acute Hepatic Porphyria
ConclusionsThe PK of givosiran and its active metabolite were not significantly affected by demographic or clinical parameters that would require adjustment from the approved body weight-based dose of givosiran 2.5 mg/kg once monthly. (Source: Clinical Pharmacokinetics)
Source: Clinical Pharmacokinetics - January 12, 2023 Category: Drugs & Pharmacology Source Type: research
Petits ARN interf érents : applications potentielles pour les néphrologues Small interfering RNA: potential applications for nephrologists
Nephrol Ther. 2022 Dec;18(6S1):6S1-6S6. doi: 10.1016/S1769-7255(22)00646-0.ABSTRACTSmall interfering RNA (siRNAs) are double-stranded RNAs of around 20 base pairs in length that trigger RNAi machinery, which promotes degradation of a target mRNA avoiding protein translation. SiRNAs are liver-targeted, using tris N-acetylgalactosamine (GalNAc) as the targeting ligand. This discovery received the Nobel Prize for medicine and physiology in 2006 and lead to substantial therapeutic advances. Application field and development of these siRNA has been very fast. Indeed, patisiran has been released in 2018 for hereditary transthyre...
Source: Nephrologie and Therapeutique - December 30, 2022 Category: Urology & Nephrology Authors: Sandrine Lemoine Marie Courbebaisse Source Type: research
Petits ARN interf érents : applications potentielles pour les néphrologues Small interfering RNA: potential applications for nephrologists
Nephrol Ther. 2022 Dec;18(6S1):6S1-6S6. doi: 10.1016/S1769-7255(22)00646-0.ABSTRACTSmall interfering RNA (siRNAs) are double-stranded RNAs of around 20 base pairs in length that trigger RNAi machinery, which promotes degradation of a target mRNA avoiding protein translation. SiRNAs are liver-targeted, using tris N-acetylgalactosamine (GalNAc) as the targeting ligand. This discovery received the Nobel Prize for medicine and physiology in 2006 and lead to substantial therapeutic advances. Application field and development of these siRNA has been very fast. Indeed, patisiran has been released in 2018 for hereditary transthyre...
Source: Nephrologie and Therapeutique - December 30, 2022 Category: Urology & Nephrology Authors: Sandrine Lemoine Marie Courbebaisse Source Type: research
