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2.
Graefes Arch Clin Exp Ophthalmol ; 256(9): 1661-1667, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29728753

RESUMO

PURPOSE: To describe and analyze the biomicroscopic features and in vivo confocal microscopy of the crystalline form of pre-Descemet corneal dystrophy (PDCD). METHODS: We examined two non-related families using biomicroscopy, in vivo confocal microscopy, and a genetic study using a gene panel test, looking for mutations in the PIKFYVE gene. RESULTS: A slit-lamp examination of the first family revealed polychromatic crystalline punctiform opacities distributed all over the stroma in 8 of 11 family members in three generations with an autosomal dominant inheritance. The second family showed in three of four members in two generations the same opacities located in the pre-Descemet region. It was also a hint for autosomal dominant inheritance. The in vivo confocal microscopy identified numerous rounded and hyperreflective stromal particles measuring 10-15 µm in diameter, with the highest density in the posterior stroma and with normal keratocytes. No systemic disease was diagnosed. No variants or mutations were identified in PIKFYVE gene. CONCLUSIONS: Polychromatic deposits in patients with Punctiform and Polychromatic Pre-Descemet corneal dystrophy can be located not only in the deep stroma but also in the anterior and middle stroma. Our presentation reveals the possibility of considering this characteristic corneal disorder as a corneal dystrophy of its own and not as a subtype of pre-Descemet corneal dystrophy.


Assuntos
Distrofias Hereditárias da Córnea/genética , Substância Própria/patologia , Lâmina Limitante Posterior/patologia , Microscopia Confocal/métodos , Adulto , Idoso , Criança , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/metabolismo , DNA/genética , Análise Mutacional de DNA , Feminino , Hereditariedade , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fosfatidilinositol 3-Quinases/genética , Fosfatidilinositol 3-Quinases/metabolismo , Adulto Jovem
3.
Artigo em Inglês | MEDLINE | ID: mdl-34998492

RESUMO

Optic nerve sheath diameter (ONSD) ultrasound has proven to be a useful tool for the detection of intracranial hypertension (IH). The DVNO values, in patients with cessation of cerebral blood flow (CCBF), has not been clarified yet. OBJECTIVE: Establish an association between DVNO and CFSC in neurocritical patients admitted to an ICU. PATIENTS AND METHODS: Cross-sectional study of patients admitted in a third level ICU, between April 2017 and April 2018, with neurological pathology. ONSD ultrasound was performed in the first 24 h and as the patient was diagnosed of CCBF. The ONSD values of patients with and without diagnosis of CCBF were compared. RESULTS: 99 patients were included, 29 of whom showed CCBF in transcranial Doppler. The ONSD measurement did not demonstrate significant differences between both groups, 65.94 ±â€¯7.55 in the group with CCBF and 63.88 ±â€¯5.56 in the group without CCBF, p = 0.14. CONCLUSION: In our study, ONSD values capable of recognizing CCBF were not identified.


Assuntos
Hipertensão Intracraniana , Pressão Intracraniana , Estudos Transversais , Humanos , Hipertensão Intracraniana/diagnóstico por imagem , Pressão Intracraniana/fisiologia , Nervo Óptico/diagnóstico por imagem , Ultrassonografia
4.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33384224

RESUMO

Optic nerve sheath diameter (ONSD) ultrasound has proven to be a useful tool for the detection of intracranial hypertension (IH). The ONSD values, in patients with cessation of cerebral blood flow (CCBF), has not been clarified yet. OBJECTIVE: Establish an association between ONSD and CCBF in neurocritical patients admitted to an ICU. PATIENTS AND METHODS: Cross-sectional study of patients admitted in a third level ICU, between April 2017 and April 2018, with neurological pathology. ONSD ultrasound was performed in the first 24 hours and as the patient was diagnosed of CCBF. The ONSD values of patients with and without diagnosis of CCBF were compared. RESULTS: 99 patients were included, 29 of whom showed CCBF in transcranial Doppler. The ONSD measurement did not demonstrate significant differences between both groups, 6,59 ± 0,75 in the group with CCBF and 6,39 ± 0,56 in the group without CCBF p=0.141. CONCLUSION: In our study, ONSD values capable of recognizing CCBF were not identified.

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