230 research outputs found
207* Recovery of lung function after intensive treatment due to pulmonary exacerbation in children with cystic fibrosis
SPH simulations of the waves produced by a falling mass into a reservoir
The characteristics of the waves generated by the falling of a rigid mass or a landslide into a reservoir are simulated via the smoothed particle hydrodynamics (SPH) technique. Specific features are introduced to take care of the dynamic equilibrium of the rigid mass and to deal with the non-Newtonian rheology of the landslide. The validation of the SPH technique, applied to this kind of problems, is first carried out making a laboratory experiment of a circular cylinder sinking into a 2D water tank, in order to ease the boundary problem. Then a more general simulation, suitable to deal with masses with general shape, is applied to a rectangular block falling in a tank filled by two liquids with different density and viscosity. The last simulation reproduces the main characteristics of a landslide occurred in Italy in 1959
Long-term gas exchange characteristics as marker of deterioration in patients with cystic fibrosis
Background and Aim
In patients with cystic fibrosis (CF) the architecture of the developing lungs and the ventilation of lung units are progressively affected, influencing intrapulmonary gas mixing and gas exchange. We examined the long-term course of blood gas measurements in relation to characteristics of lung function and the influence of different CFTR genotype upon this process.
Methods
Serial annual measurements of PaO2 and PaCO2 assessed in relation to lung function, providing functional residual capacity (FRCpleth), lung clearance index (LCI), trapped gas (VTG), airway resistance (sReff), and forced expiratory indices (FEV1, FEF50), were collected in 178 children (88 males; 90 females) with CF, over an age range of 5 to 18 years. Linear mixed model analysis and binary logistic regression analysis were used to define predominant lung function parameters influencing oxygenation and carbon dioxide elimination.
Results
PaO2 decreased linearly from age 5 to 18 years, and was mainly associated with FRCpleth, (p < 0.0001), FEV1 (p < 0.001), FEF50 (p < 0.002), and LCI (p < 0.002), indicating that oxygenation was associated with the degree of pulmonary hyperinflation, ventilation inhomogeneities and impeded airway function. PaCO2 showed a transitory phase of low PaCO2 values, mainly during the age range of 5 to 12 years. Both PaO2 and PaCO2 presented with different progression slopes within specific CFTR genotypes.
Conclusion
In the long-term evaluation of gas exchange characteristics, an association with different lung function patterns was found and was closely related to specific genotypes. Early examination of blood gases may reveal hypocarbia, presumably reflecting compensatory mechanisms to improve oxygenation
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: Clinical, genetic and neuroradiological features
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase (TP) gene causes mitochondrial genomic dysfunction. Patients suffer from gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoparesis, myopathy and polyneuropathy. Magnetic resonance imaging (MRI) shows leukoencephalopathy. We describe clinical, genetic and neuroradiological features of three brothers affected with MNGIE. Clinical examination, laboratory analyses, MRI and magnetic resonance spectroscopy (MRS) of the brain, and genetic analysis have been performed in all six members of the family with the three patients with MNGIE. Two of them are monozygous twins. They all suffered from gastrointestinal dysmotility, cachexia, ophthalmoplegia, muscular atrophies, and polyneuropathy. Urinary thymidine was elevated in the patients related to the severity of clinical disease, and urinary thymidine (normally not detectable) was also found in a heterozygous carrier. Brain MRI showed leukoencephalopathy in all patients; however, their cognitive functioning was normal. Brain MRS demonstrated reduced N-acetylaspartate and choline in severely affected areas. MRI of heterozygous carriers was normal. A new mutation (T92N) in the TP gene was identified. Urinary thymidine is for the first time reported to be detectable in a heterozygous carrier. MRS findings indicate loss of neurons, axons, and glial cells in patients with MNGIE, but not in heterozygous carrier
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
The authors identified a missense mutation in the FTL gene
(474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal
signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation
was also present in his asymptomatic mother and younger brother, who
had abnormally low levels of ferritin in the serum. The patient and his mother
displayed bilateral involvement of the pallidum.Fundação para a Ciência e a Tecnologia/Fundo Europeu de Desenvolvimento Regional (FCT)/(FEDER) - CBO/33485/99
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retardation. All three patients presented with transitory metabolic acidosis in the neonatal period and development of persistent renal de Toni-Debr,-Fanconi-type tubulopathy, with subsequent rachitis, short stature, microcephaly, sensorineural hearing impairment, mild mental retardation and liver dysfunction. The novel missense mutation c.142A > G (p.M48V) in BCS1L is located at a highly conserved region associated with sorting to the mitochondria. Biochemical analysis revealed an isolated complex III deficiency in skeletal muscle not detected in fibroblasts. Native polyacrylamide gel electrophoresis (PAGE) revealed normal super complex formation, but a shift in mobility of complex III most likely caused by the absence of the BCS1L-mediated insertion of Rieske Fe/S protein into complex III. These findings expand the phenotypic spectrum of BCS1L mutations, highlight the importance of biochemical analysis of different primary affected tissue and underline that neonatal lactic acidosis with multi-organ involvement may resolve after the newborn period with a relatively spared neurological outcome and survival into adulthood. Conclusion: Mutation screening for BCS1L should be considered in the differential diagnosis of severe (proximal) tubulopathy in the newborn period.Peer reviewe
Fiber optic chirped FBG for distributed thermal monitoring of ex-vivo radiofrequency ablation of liver
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