Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy. The most common congenital cardiovascular defects are presented and illustrated with appropriate iconography. The current recommendations regarding the screening and monitoring of cardiovascular disease in these patients are discussed.
Despite significant improvements of renal and obstetrical management, pregnancies in women with glomerular diseases and with lupus nephritis continue to be associated with increased complications both for the mother and the fetus as compared to those of pregnancies in healthy women. To reduce the risk of these complications, planning pregnancy in a phase of stable remission of the underlining disease is necessary. A kidney biopsy is an important event in any phase of pregnancy. A kidney biopsy can be of help during counselling before pregnancy in cases of incomplete remission of the renal manifestations. In these situations, histological data may differentiate active lesions that require the reinforcement of therapy from chronic irreversible lesions that may increase the risk of complications. In pregnant women, a kidney biopsy can identify new-onset systemic lupus erythematous (SLE) and necrotizing or primitive glomerular diseases and distinguish them from other, more common complications. Increasing proteinuria, hypertension, and the deterioration of kidney function during pregnancy may be either due to a reactivation of the underlying disease or to pre-eclampsia. The results of the kidney biopsy suggest the need to initiate an appropriate treatment, allowing the progression of the pregnancy and the fetal viability or the anticipation of delivery. Data from the literature suggest avoiding a kidney biopsy beyond 28 weeks of gestation to minimize the risks associated with the procedure vs. the risk of preterm delivery. In case of the persistence of renal manifestations after delivery in women with a diagnosis of pre-eclampsia, a renal kidney assessment allows the final diagnosis and guides the therapy.
Sarcopenia is a progressive age -related loss of muscle mass associated with a decline in muscle function and physical performance. Patients with chronic kidney disease experience substantial loss of muscle mass, weakness, and poor physical performance. Indeed, with the progression of chronic kidney disease, skeletal muscle dysfunction contributes to mobility limitation, loss of functional independence, and vulnerability to disease complications. There is a lack of robust data on the negative effect of the impact of kidney disease on skeletal muscle dysfunction, as well as on screening and treatment strategies that can be used in clinical practice to prevent functional decline and disability. Therefore, sarcopenia may be an underestimated condition with major implications for people with chronic kidney disease, even before the start of dialysis, which makes research into this topic necessary. The purpose of this review is to expand on some fundamental topics of sarcopenia, with an emphasis on the setting of chronic kidney disease patients.
BACKGROUND AND AIMS Patients on renal replacement therapy are reported to have altered humoral immunity, which is demonstrated by a decreased response to different vaccines. However, in kidney transplant (KT) patients, vaccines are even less immunogenic in terms of antibody response. Therefore, these patients have a higher risk of critical infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which makes them eligible for early vaccination. The aim of this study was to compare the humoral response after complete vaccination against SARS-CoV-2 between KT patients and peritoneal dialysis (PD) patients. METHOD We conducted a single-center, retrospective study, which included 67 KT recipients and 49 prevalent PD patients. Patients were excluded if they had previously known SARS-CoV-2 infection or positive anti-nucleocapsid IgG or IgM antibodies. Completion of vaccination was defined as two doses of a messenger RNA vaccine (BNT162b2 messenger RNA vaccine [Pfizer-BioNTech] or messenger RNA-1273 [Moderna]), two doses of viral vector vaccine ChadOx1 nCoV-19/AZD1222 (AstraZeneca) or one dose of JNJ-78 436 735 (Janssen) vaccine. Anti-spike (anti-S) IgG antibodies were measured, at least, 21 days after the completion of vaccination and before receiving a `booster’ dose. A value of anti-S >0.8 U/mL was considered positive. Immunogenicity of the vaccine, measured by anti-spike IgG antibodies, was compared between KT recipients and PD patients. RESULTS The mean age of the population was 58.8 ± 13.6 years and 62.0% were males (similar between the two groups). The median interval between completion of vaccination and serologic analysis was 4.1 months in KT patients and 7.1 months in PD patients. In KT patients, the median anti-S level was 1.50 U/mL (IQR 0.0–27.3) versus 97.0 U/mL (IQR 34.5–447.0) in PD patients (P < .001). In the KT group, there were 31 (46.3%) non-responders (patients without detectable levels of anti-S), while in the second there were only two (4.1%). In KT patients, anti-S levels were not associated with time since transplant or immunosuppressive induction therapy. In PD patients, anti-S levels were not associated with time since the beginning of PD. In both groups, anti-S levels were not associated with age, gender, type of administered vaccine or interval between completion of vaccination and serologic analysis. CONCLUSION We found a significant difference in humoral responses to the vaccine between PD and KT transplant patients with no previous exposure to SARS-CoV-2. In PD patients, the vaccine seemed to be effective. On the contrary, KT patients had a significantly weaker rising of anti-S titers, with a high proportion of patients not responding to the vaccine. This study emphasizes the negative impact of immunosuppression on humoral responses, reinforcing the need for a `booster’ dose in this group of patients.
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