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[Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases].

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OBJECTIVE To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristics of clinical presentation, pulmonary high resolusion CT(HRCT), treatment response and gene mutation. METHODS This study includes 15 cases of pediatric patients

Atypical anterior optic neuropathy caused by toxoplasmosis.

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OBJECTIVE To report atypical anterior optic neuropathy due to toxoplasmosis. METHODS Interventional case report. A 33-year-old male presented with sudden painless loss of vision and floaters in the right eye. Examination demonstrated a best-corrected visual acuity of 20/200, optic nerve head edema,

Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival.

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Glycosylphosphatidylinositol (GPI) anchors attach nearly 150 proteins to the cell membrane. Patients with pathogenic variants in GPI biosynthesis genes develop diverse phenotypes including seizures, dysmorphic facial features and cleft palate through an unknown mechanism. We identified a novel mouse

[Significance of diagnostics and treatment in preventing congenital infections with Toxoplasma gondii (Tg), cytomegalovirus (CMV) and parvowirus B19 (PVB19)].

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Common use of available techniques detecting perinatal infections needs to be accompanied with knowledge of proper interpretation of the tests and indications for treatment as well as communication with patients. The aim of this paper is to summarize current standards of diagnosis and treatment of

[5-Fluorouracil-induced colitis--a review based upon consideration of 6 cases].

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BACKGROUND At increasing use of high-dose 5-fluorouracil-based chemotherapy for metastatic colorectal and gastric cancer complicated drug-induced colitis is observed more frequently. From May 1998 to November 2000 we observed 6 cases of 5-fluorouracil-induced colitis, in which we looked for

Delayed Posterior Reversible Leukoencephalopathy Syndrome Triggered by FLOT Chemotherapy.

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Posterior reversible encephalopathy syndrome (PRES) is a potentially severe disorder of the autoregulation of cerebral perfusion. The major clinical manifestations are headache, seizures, altered mental status, and visual loss. The typical radiological finding is vasogenic edema predominating in the

Posterior Reversible Encephalopathy Syndrome (PRES) Presenting as Status Epilepticus: A Case Report and Literature Review.

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Posterior reversible encephalopathy syndrome (PRES) is one of many causes of status epilepticus (SE). Itis defined classically as a clinical radiographic entity, characterized by presentation of headache, altered mental status, visual disturbances, seizures, and typical neuroradiographic findings of

The McCAVE Trial: Vanucizumab plus mFOLFOX-6 Versus Bevacizumab plus mFOLFOX-6 in Patients with Previously Untreated Metastatic Colorectal Carcinoma (mCRC).

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Bevacizumab, a VEGF-A inhibitor, in combination with chemotherapy, has proven to increase progression-free survival (PFS) and overall survival in multiple lines of therapy of metastatic colorectal cancer (mCRC). The angiogenic factor angiopoetin-2 (Ang-2) is associated with poor

Methanol poisoning: ocular and neurological manifestations.

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OBJECTIVE The purpose of this study was to examine the effectiveness of ethanol and high-dose intravenous steroid for preserving vision in acute methanol poisoning. METHODS Eight cases of acute methanol poisoning presented to the emergency department. Detailed physical examination including

The McCAVE Trial: Vanucizumab plus mFOLFOX-6 Versus Bevacizumab plus mFOLFOX-6 in Patients with Previously Untreated Metastatic Colorectal Carcinoma (mCRC).

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Cardiotoxicity of high-dose continuous infusion fluorouracil: a prospective clinical study.

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OBJECTIVE A prospective clinical study was performed to determine the incidence of high-dose continuous intravenous infusion fluorouracil (5FU-CIV) cardiotoxicity. METHODS Three hundred sixty-seven patients who were given first-cycle high-dose 5FU-CIV were monitored for cardiac function by clinical

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