In a third of patients presenting with rhabdomyolysis-induced acute renal failure (ARF), a biphas... more In a third of patients presenting with rhabdomyolysis-induced acute renal failure (ARF), a biphasic plasma calcium profile may occur. We report a case of rhabdomyolysis-induced ARF presenting hypocalcemia during oliguria, followed by a severe hypercalcemia in the polyuric phase. A hypocalcemia-induced acute increase of plasma parathyroid hormone in the early stage of ARF was followed by a down-regulation of parathyroid hormone, 1,25(OH)2 vitamin D and 25(OH) vitamin D during the renal function recovery, associated with an acute hypercalcemia. The plasma calcium increase induced in our patient severe neurological disturbances, life-threatening short QT interval and Brugada-like syndrome at risk of malignant arrhythmias. This complication was treated by hemodialysis and pamidronic acid infusion. This case confirms that the pathogenesis of the biphasic calcium profile may be related to the massive calcium uptake in the ischemic muscle cells during oliguria, followed by a muscle calcium release later in the polyuric stage of ARF. Therefore, the behavior of calciotropic hormones may be the consequence rather than the cause of plasma calcium changes. We would like to emphasize the danger of sudden death that may occur in the recovery phase of rhabdomyolysis-induced ARF when the physician might be wrongly convinced that the major risks have disappeared.
Hemodialysis (HD)-induced inflammation has a pathogenetic role in patients with end-stage renal d... more Hemodialysis (HD)-induced inflammation has a pathogenetic role in patients with end-stage renal disease (ESRD). The aim of the present study was to assess whether pentraxin-3 (PTX3) could be a reliable biomarker of HD-induced inflammation and of membrane biocompatibility. We prospectively enrolled 31 HD patients. Blood samples for determining PTX3, C-reactive protein (CRP), leukocytes and neutrophils were drawn from the arterial needle, before dialysis after the long dialysis-free interval (time 0), at the end of the index session (time 1) and before the next dialysis session (time 2). In 22 of 31 patients, 30 minutes after start of dialysis, PTX3 and CRP plasma levels were measured in blood collected from both the arterial and venous lines (time A - time V) of the dialyzer. In 7 of 22 patients intracellular PTX3 levels in neutrophils were measured at the end of session. PTX3 venous levels were significantly increased at the end of the index session compared with baseline and in blood samples drawn from the venous line compared with the arterial line of the dialyzer. At time 1, a reduction of intracellular PTX3 in neutrophils was noticed. In contrast, CRP plasma levels were stable during the HD session. Our findings suggest that PTX3, which is rapidly produced by several cell types and released by neutrophils upon stimulation, could be a biomarker of HD-induced inflammation and of blood-membrane bioincompatibility.
Objective Diagnostic assessment of a boy of 13 years old. From the age of 16 months, he has showe... more Objective Diagnostic assessment of a boy of 13 years old. From the age of 16 months, he has showed an isolated oculomotor disorder associated with a delay in acquisition of psychomotor milestones. Furthermore, at 4 years old, he presented absence-like seizures, for whom he has been favourably treated with valproic acid. After 9 years of wellness, when antiepileptic drug was stopped, an effort-related paroxysmal myoclonic dystonia appeared, involving mostly lower limbs. Such episodes have rapidly increased in frequency, becoming truly debilitating for the patient. Methods Suspecting a deficit of the enzyme GLUT1, the patient underwent lumbar puncture, video-EEG and molecular genetic analysis. Physical-chemical analysis of CSF demonstrated a glycorrhachia of 45 mg/dL, lactate at the lower limit of the normal range and a CSF/serum glucose ratio of 0.52. Video-EEG excluded epileptic paroxysms. Results The molecular investigation revealed a point mutation not previously described in literature (c.1199G>A; exon 9 – gene SLC2A1); this mutation was absent in parental alleles and thus it was originated de novo. Conclusion After diagnosis, the patient restarted therapy with valproic acid and began to follow strictly ketogenic diet, getting a complete and persistent clinical remission. In conclusion, this report of a GLUT1-DS case is characterized by an unusual presentation and the description of a new causative mutation. More interestingly, it proves the importance of CSF analysis to potentially reveal treatable diseases in children with undiagnosed movement disorders.
Galectin-3 is a circulating biomarker of fibrosis whose prognostic role in pulmonary arterial hyp... more Galectin-3 is a circulating biomarker of fibrosis whose prognostic role in pulmonary arterial hypertension (PAH) has not been fully explored. We undertook a pilot study to evaluate the relationship between galectin-3 plasma levels and validated risk scores in PAH. The study included 70 PAH patients admitted to a single referral center from June 2016 to June 2018. Patients were stratified according to the REVEAL 2.0 risk score, according to the parameters suggested by the European Society of Cardiology and European Respiratory Society (ESC/ERS) Guidelines, and according to a focused echocardiographic assessment of right heart performance. The association between galectin-3 levels and risk profiles was evaluated by generalized linear regression model with adjustment for etiology. Galectin-3 plasma levels increased linearly in the three risk strata based on the REVEAL 2.0 score (from 16.0 ± 5.7 in low-risk to 22.4 ± 6.3 in intermediate-risk and in 26.9 ± 7.7 ng/mL in high-risk patients...
The new biotechnologies will be available a large number of diagnostic datas.The study of clinica... more The new biotechnologies will be available a large number of diagnostic datas.The study of clinical cases with antibodies-anti-Golgi provides an opportunity to discuss the role of traditional approach by indirect immunofluorescence investigation.The strong collaboration between clinician and laboratory is the only possibility for a real progress.
Recent studies tried to identify new indicators of risk in the development of insulin resistance,... more Recent studies tried to identify new indicators of risk in the development of insulin resistance, cardiovascular disease, and metabolic syndrome; recently, breast size has been proposed as a new measure of risk for type 2 diabetes mellitus in women. To understand the role of breast adipose tissue and subcutaneous adipose tissue in lipidic and glucose metabolism, we decided to evaluate the variation on levels of adiponectin in plasma and other well-known metabolic markers before and after surgical fat reduction.We formed 2 groups: breast reduction group (M-) and abdominoplasty group (ADD). For all patients enrolled in the study, we recorded anthropometric measurements 1 hour before surgery (that we considered as time zero). At time zero, we always performed a blood sample to observe the assay of glucose, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, CRP, TNF-α, IL-1, IL-6, and adiponectin. The dosage of the above parameters was repeated 40 days after the surgical intervention with the aim of assessing whether they showed a statistically significant change after surgery.Adiponectin levels increased significantly in both groups of patients after surgery: in patients undergoing reduction mammaplasty and abdominoplasty, the mean increase was equal to 1.68 (P = 0.007) and 4.28 (P = 0.019), respectively. The variation in increase was not statistically different between the 2 groups (P = 0.254).Moreover, in the M- group, we observed that HDL levels increased and glycemia decreased significantly.Our study shows that reduction mammaplasty is a surgical procedure associated with a significant improvement in adiponectin level, HDL cholesterol level, and a significant decrease in glycemia level.The effective correlation between the role of breast adipose tissue and appearance of disease is still to be determined.
In a third of patients presenting with rhabdomyolysis-induced acute renal failure (ARF), a biphas... more In a third of patients presenting with rhabdomyolysis-induced acute renal failure (ARF), a biphasic plasma calcium profile may occur. We report a case of rhabdomyolysis-induced ARF presenting hypocalcemia during oliguria, followed by a severe hypercalcemia in the polyuric phase. A hypocalcemia-induced acute increase of plasma parathyroid hormone in the early stage of ARF was followed by a down-regulation of parathyroid hormone, 1,25(OH)2 vitamin D and 25(OH) vitamin D during the renal function recovery, associated with an acute hypercalcemia. The plasma calcium increase induced in our patient severe neurological disturbances, life-threatening short QT interval and Brugada-like syndrome at risk of malignant arrhythmias. This complication was treated by hemodialysis and pamidronic acid infusion. This case confirms that the pathogenesis of the biphasic calcium profile may be related to the massive calcium uptake in the ischemic muscle cells during oliguria, followed by a muscle calcium release later in the polyuric stage of ARF. Therefore, the behavior of calciotropic hormones may be the consequence rather than the cause of plasma calcium changes. We would like to emphasize the danger of sudden death that may occur in the recovery phase of rhabdomyolysis-induced ARF when the physician might be wrongly convinced that the major risks have disappeared.
Hemodialysis (HD)-induced inflammation has a pathogenetic role in patients with end-stage renal d... more Hemodialysis (HD)-induced inflammation has a pathogenetic role in patients with end-stage renal disease (ESRD). The aim of the present study was to assess whether pentraxin-3 (PTX3) could be a reliable biomarker of HD-induced inflammation and of membrane biocompatibility. We prospectively enrolled 31 HD patients. Blood samples for determining PTX3, C-reactive protein (CRP), leukocytes and neutrophils were drawn from the arterial needle, before dialysis after the long dialysis-free interval (time 0), at the end of the index session (time 1) and before the next dialysis session (time 2). In 22 of 31 patients, 30 minutes after start of dialysis, PTX3 and CRP plasma levels were measured in blood collected from both the arterial and venous lines (time A - time V) of the dialyzer. In 7 of 22 patients intracellular PTX3 levels in neutrophils were measured at the end of session. PTX3 venous levels were significantly increased at the end of the index session compared with baseline and in blood samples drawn from the venous line compared with the arterial line of the dialyzer. At time 1, a reduction of intracellular PTX3 in neutrophils was noticed. In contrast, CRP plasma levels were stable during the HD session. Our findings suggest that PTX3, which is rapidly produced by several cell types and released by neutrophils upon stimulation, could be a biomarker of HD-induced inflammation and of blood-membrane bioincompatibility.
Objective Diagnostic assessment of a boy of 13 years old. From the age of 16 months, he has showe... more Objective Diagnostic assessment of a boy of 13 years old. From the age of 16 months, he has showed an isolated oculomotor disorder associated with a delay in acquisition of psychomotor milestones. Furthermore, at 4 years old, he presented absence-like seizures, for whom he has been favourably treated with valproic acid. After 9 years of wellness, when antiepileptic drug was stopped, an effort-related paroxysmal myoclonic dystonia appeared, involving mostly lower limbs. Such episodes have rapidly increased in frequency, becoming truly debilitating for the patient. Methods Suspecting a deficit of the enzyme GLUT1, the patient underwent lumbar puncture, video-EEG and molecular genetic analysis. Physical-chemical analysis of CSF demonstrated a glycorrhachia of 45 mg/dL, lactate at the lower limit of the normal range and a CSF/serum glucose ratio of 0.52. Video-EEG excluded epileptic paroxysms. Results The molecular investigation revealed a point mutation not previously described in literature (c.1199G>A; exon 9 – gene SLC2A1); this mutation was absent in parental alleles and thus it was originated de novo. Conclusion After diagnosis, the patient restarted therapy with valproic acid and began to follow strictly ketogenic diet, getting a complete and persistent clinical remission. In conclusion, this report of a GLUT1-DS case is characterized by an unusual presentation and the description of a new causative mutation. More interestingly, it proves the importance of CSF analysis to potentially reveal treatable diseases in children with undiagnosed movement disorders.
Galectin-3 is a circulating biomarker of fibrosis whose prognostic role in pulmonary arterial hyp... more Galectin-3 is a circulating biomarker of fibrosis whose prognostic role in pulmonary arterial hypertension (PAH) has not been fully explored. We undertook a pilot study to evaluate the relationship between galectin-3 plasma levels and validated risk scores in PAH. The study included 70 PAH patients admitted to a single referral center from June 2016 to June 2018. Patients were stratified according to the REVEAL 2.0 risk score, according to the parameters suggested by the European Society of Cardiology and European Respiratory Society (ESC/ERS) Guidelines, and according to a focused echocardiographic assessment of right heart performance. The association between galectin-3 levels and risk profiles was evaluated by generalized linear regression model with adjustment for etiology. Galectin-3 plasma levels increased linearly in the three risk strata based on the REVEAL 2.0 score (from 16.0 ± 5.7 in low-risk to 22.4 ± 6.3 in intermediate-risk and in 26.9 ± 7.7 ng/mL in high-risk patients...
The new biotechnologies will be available a large number of diagnostic datas.The study of clinica... more The new biotechnologies will be available a large number of diagnostic datas.The study of clinical cases with antibodies-anti-Golgi provides an opportunity to discuss the role of traditional approach by indirect immunofluorescence investigation.The strong collaboration between clinician and laboratory is the only possibility for a real progress.
Recent studies tried to identify new indicators of risk in the development of insulin resistance,... more Recent studies tried to identify new indicators of risk in the development of insulin resistance, cardiovascular disease, and metabolic syndrome; recently, breast size has been proposed as a new measure of risk for type 2 diabetes mellitus in women. To understand the role of breast adipose tissue and subcutaneous adipose tissue in lipidic and glucose metabolism, we decided to evaluate the variation on levels of adiponectin in plasma and other well-known metabolic markers before and after surgical fat reduction.We formed 2 groups: breast reduction group (M-) and abdominoplasty group (ADD). For all patients enrolled in the study, we recorded anthropometric measurements 1 hour before surgery (that we considered as time zero). At time zero, we always performed a blood sample to observe the assay of glucose, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, CRP, TNF-α, IL-1, IL-6, and adiponectin. The dosage of the above parameters was repeated 40 days after the surgical intervention with the aim of assessing whether they showed a statistically significant change after surgery.Adiponectin levels increased significantly in both groups of patients after surgery: in patients undergoing reduction mammaplasty and abdominoplasty, the mean increase was equal to 1.68 (P = 0.007) and 4.28 (P = 0.019), respectively. The variation in increase was not statistically different between the 2 groups (P = 0.254).Moreover, in the M- group, we observed that HDL levels increased and glycemia decreased significantly.Our study shows that reduction mammaplasty is a surgical procedure associated with a significant improvement in adiponectin level, HDL cholesterol level, and a significant decrease in glycemia level.The effective correlation between the role of breast adipose tissue and appearance of disease is still to be determined.
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