Twelve and 10 TT patients were dose escalated at the second and third cycles, respectively; 16 CT patients were dose escalated at the second and third cycles. Leukopenia, but not febrile neutropenia, was genotype and dose dependent and increased in patients with CT and TT genotypes as their dose was increased. However, the third-cycle leukopenia rates were comparable to patients with the CC genotype receiving standard-dose epirubicin.

Pharmacogenetically guided epirubicin dosing is well tolerated and allowed dose escalation without increased toxicity.

Pharmacogenetically guided epirubicin dosing is well tolerated and allowed dose escalation without increased toxicity.Little is known about the light phenotype of SARS-CoV-2 pneumonia, which behaves in an unusual way, unlike other known respiratory diseases. We believe that the histopathological features of early COVID-19 could be considered the pathophysiological hallmark of this disease. Lung cryobiopsies show almost pristine alveoli, enlarged/hyperplasic alveolar capillaries along with dilatation of the post capillary pulmonary venules. Hypoxemia could therefore be explained by a reduction of the normal V/Q ratio, due to blood overflow around well ventilated alveoli. This could clarify typical manifestations of type L COVID-19, such as happy hypoxemia, response to awake prone positioning, response to PEEP/CPAP and platypnea orthodeoxia.

The aim of this study was to determine the rates of trimethoprim/sulfamethoxazole (TMP/SMX)-associated pseudo-elevation and true nephrotoxicity by comparison of creatinine-estimated and cystatin C-estimated GFRs (glomerular filtration rates) before and after TMP/SMX administrations.

Patients in whom serum creatinine and cystatin C were simultaneously measured are the cohort of this study. A decreasing of creatinine-estimated GFR posterior to TMP/SMX by≥20% and a decreasing of cystatine C-estimated GFR posterior to TMP/SMX by≥20% were defined as true nephrotoxicity. A decreasing of creatinine-estimated GFR posterior to TMP/SMX by≥20% and a decreasing of cystatine C-estimated GFR posterior to TMP/SMX by < 20% were defined as pseudo-elevation.

A total of 66 patients were enrolled. Within the 19 patients in whom serum creatinine and cystatin C were measured simultaneously both before and after TMP/SMX administrations, 10 patients (52.6%) had nephrotoxicity. Fewer random error and systematic bias between creatinine- and cystatine C-estimated GFR were observed after TMP/SMX than before TMP/SMX by Bland-Altman analysis.

Using cystatin C, we reveled TMP/SMX-associated nephrotoxicity is not uncommon. We should equally pay attention to TMP/SMX-associated nephrotoxicity and pseudo-elevation. In spite of pseudo-elevation, creatinine-estimated GFR after receiving TMP/SMX is ironically reliable as surrogate maker for renal clearance.

Using cystatin C, we reveled TMP/SMX-associated nephrotoxicity is not uncommon. We should equally pay attention to TMP/SMX-associated nephrotoxicity and pseudo-elevation. In spite of pseudo-elevation, creatinine-estimated GFR after receiving TMP/SMX is ironically reliable as surrogate maker for renal clearance.Inflammation of adipose tissue, particularly visceral adipose tissue, is assumed to be a causal factor for the development of type 2 diabetes, non-alcoholic fatty liver disease, and cardiovascular diseases. Invasive biopsy is currently mandatory for assessment and grading of adipose tissue inflammation. Magnetic resonance detection of the increased water content of inflamed adipose tissue is considered to be a non-invasive alternative. Additional water is mainly originating from macrophages clustering in small regions between adipocytes. This article addresses the characteristics of water signals from areas between adipocytes in terms of line width, line shape, and relaxation properties. Since water and lipids inside adipose tissue have different magnetic susceptibilities, microscopic field inhomogeneities arise depending on the geometry and orientation of the water containing confinements. Relatively pronounced microscopic field inhomogeneities in the water compartments cause a broad spectral distribution ofnly 14.7Hz±0.7Hz. This finding is qualitatively consistent with the results of finite element modelling of the magnetic field in geometric models and experiments in phantoms with oil-filled balloons surrounded by water.Reversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu have been detected in some patients. We present detailed clinical, imaging, and muscle biopsy findings in a boy and a girl with neonatal hypotonia, feeding difficulties, lactic acidosis, and ragged red fibers. Both patients show fat replacement on muscle imaging, which was mild in the boy, but severe in the girl, affecting mostly the posterior leg muscles. In addition to the homoplasmic m.14674T>C, both patients carried heterozygous variants in QRSL1 (c. 686T>G; p.Val299Gly) and EARS2 (c.358C>T; p.Arg120Trp), respectively. It is very important to recognize the clinical and morphological signs of reversible infantile respiratory chain deficiency as patients should receive intensive supportive care in the first 6 months of life. Understanding the mechanism of the spontaneous recovery may lead to novel therapeutic perspectives in other mitochondrial diseases.Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named “Amish” Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia, exercise intolerance and dyspnea since infancy. In adult life she lapsed into a coma as a result of acute respiratory failure, with the need of tracheostomy, subsequently removed once her respiratory condition improved. Afterwards, non-invasive ventilation was started. Short stature, contractures, a small size posterior cranial fossa and osteonecrosis were additional clinical findings. Muscle MRI showed minor hypotrophy and degenerative changes of the muscles of the posterior thigh compartment and involvement of the paraspinal, medial gastrocnemius and soleus muscles with sparing of the gracilis muscle. Muscle biopsy revealed multiminicores and nemaline rods. Selleck Imiquimod Genetic analysis identified a new pathogenetic biallelic deletion c.786delG p.(Lys263Serfs*36) in exon 13 of TNNT1 gene.