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1.
MethodsX ; 10: 102057, 2023.
Article in English | MEDLINE | ID: mdl-36851978

ABSTRACT

Plastic pollution is a global problem. Animals and humans can ingest and inhale plastic particles, with uncertain health consequences. Nanoplastics (NPs) are particles ranging from 1 nm to 1000 nm that result from the erosion or breakage of larger plastic debris, and can be highly polydisperse in physical properties and heterogeneous in composition. Potential effects of NPs exposure may be associated with alterations in the xenobiotic metabolism, nutrients absorption, energy metabolism, cytotoxicity, and behavior. In humans, no data on NPs absorptions has been reported previously. Given that their detection relies significantly on environmental exposure, we have prospectively studied the presence of NPs in human peripheral blood (PB). Specifically, we have used fluorescence techniques and nanocytometry, together with the staining of the lipophilic dye Nile Red (NR), to demonstrate that NPs can be accurately detected using flow cytometry.•Potential effects of nanoplastics exposure.•Fluorescence techniques and nanocytometry.•Accurate detection using flow cytometry.

2.
Eur J Med Genet ; 63(12): 104073, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33002628

ABSTRACT

Ciliopathies are a wide and heterogeneous group of diseases affecting intraflagellar transport. Among them, Mainzer-Saldino syndrome (MSS) shows phalangeal cone-shaped epiphysis, renal disease and retinal involvement. Short stature, cerebellar ataxia and hepatic fibrosis might also be found. IFT140 is the most commonly reported mutation in MSS. We will report on the case of a patient with a clinical diagnosis of Mainzer-Saldino syndrome due to IFT144 dysfunction. This mutation has not been previously related to MSS but it has been found in other ciliopathies and both syndromic and non-syndromic retinitis pigmentosa. At birth our patient showed trigonocephaly, early progressive renal failure requiring transplant, intrahepatic biliary duct dilation, cone-shaped epiphyses, growth retardation and retinitis pigmentosa with mild ophthalmic impairment. The best corrected visual acuity reached 0.15/0.22 LogMAR. The posterior pole showed abnormal macular reflex, mild vascular attenuation in the periphery and diffuse pigmentary changes. Autofluorescence showed bull's eye signal increase. Computerized optic tomography assessed the absence of external retinal layers in the extrafoveal macula. In conclusion, IFT144 genetic study may be involved in MSS and thus must be considered for diagnosis. Mild ophthalmic symptomatology despite early onset retinitis pigmentosa in the context of MSS has been found in this case caused by IFT144 mutation.


Subject(s)
Cerebellar Ataxia/genetics , Cytoskeletal Proteins/genetics , Intracellular Signaling Peptides and Proteins/genetics , Phenotype , Retinitis Pigmentosa/genetics , Cerebellar Ataxia/pathology , Child , Humans , Male , Mutation, Missense , Retinitis Pigmentosa/pathology
3.
Pediatr Nephrol ; 23(5): 841-5, 2008 May.
Article in English | MEDLINE | ID: mdl-18288504

ABSTRACT

Segmental renal infarction (SRI) is a rare condition that causes renovascular hypertension (RVH), which accounts for 8-10% of all causes of pediatric hypertension. We report the clinical course of two children with idiopathic SRI who suffered severe arterial hypertension associated with hyponatremia. Hypertension was diagnosed during the study of hematuria in the first case and due to a hypertensive emergency in the second case. The etiology was found to be renovascular in both patients, involving the occlusion of small renal arteries and causing SRI. Our first patient was treated with partial nephrectomy, and the second patient was treated with antihypertensive medication given the impossibility of removing the infarcted renal area. The occlusion of small renal arteries is a rare disease of unknown origin in which the gold standard for diagnosis is selective renal arteriography. The definitive treatment is surgical segmentectomy. If segmentectomy is not feasible because of the localization of the infarcted area, as in our second patient, medical treatment is required. In view of the importance of RVH in children and the rareness of the particular etiology here reported (SRI), a review of the literature was done.


Subject(s)
Hypertension, Renovascular/etiology , Infarction/complications , Kidney/blood supply , Angiography , Child, Preschool , Diagnosis, Differential , Echocardiography, Doppler , Female , Follow-Up Studies , Humans , Hypertension, Renovascular/diagnosis , Hypertension, Renovascular/physiopathology , Infarction/diagnosis , Infarction/surgery , Nephrectomy , Tomography, X-Ray Computed
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