Anesthesia for Ex Utero Intrapartum Treatment: Renewed Insight on a Rare Procedure

The ex utero intrapartum treatment is a rare surgical procedure performed in cases of expected postpartum fetal airway obstruction. The technique lies on a safe establishment of a patent airway during labor in anticipation of a critical respiratory event, without interrupting maternal-fetal circulation. Anesthetic management is substantially different from that regarding standard cesarean delivery and its main goals include uterine relaxation, fetal anesthesia and preservation of placental blood flow. We present the case of an ex utero intrapartum treatment procedure performed on a fetus with a large cervical lymphangioma and prenatal evidence of airway compromise. Modifications to the classic ex utero intrapartum treatment management strategies were successfully adopted and will be discussed in the following report.

Porfírias Cutâneas em Idade Pediátrica

As porfírias são um conjunto de doenças metabólicas raras que resultam, maioritariamente, de um defeito geneticamente programado das enzimas da biossíntese do grupo heme. As manifestações clínicas são muito variáveis, assim como a sua gravidade e prognóstico. A fotossensibilidade é característica das porfírias cutâneas. O diagnóstico diferencial pode ser difícil devido à inespecificidade dos sintomas e à sobreposição dos achados laboratoriais. O tratamento ainda é controverso, embora a evicção da exposição solar seja essencial. Neste artigo pretende-se realizar uma revisão teórica sobre as porfírias com manifestações cutâneas em idade pediátrica, enfatizando o diagnóstico e tratamento de cada subtipo.

Hemocromatose Hereditária do Tipo 1 e Porfíria Cutânea Tarda - Relato de Caso de um Doente Heterozigoto Composto para as Mutações C282Y e H63D

A porfíria cutânea tarda (PCT) é uma doença do metabolismo das porfirinas caracterizada por fotossensibilidade intensa, associada a lesões bolhosas cobertas por crosta de difícil cicatrização, cicatrizes atróficas e hipertricose em áreas fotoexpostas assim como alterações da função hepática. A hemocromatose hereditária (HH) é a doença genética autossómica recessiva mais frequente na população. Apresentamos o caso de um doente saudável de 38 anos, referenciado por vesículas na face, superfícies extensoras dos braços e dorso das mãos, associadas com hipertricose na região zigomática e quistos de mília no dorso das mãos. Análises laboratoriais mostraram um aumento dos níveis séricos e urinários das porfirinas, do ferro sérico e ferritina elevada. Um diagnóstico de porfíria cutânea tarda foi inferido com base na apresentação clínica, exame histopatológico e resultados laboratoriais. O estudo genético para as mutações do gene da hemocromatose hereditária revelou um doente heterozigoto composto para as mutações mais comuns: C282Y, H63D. A porfíria cutânea tarda pode ser um importante marcador cutâneo para pacientes com mutações do gene HH. A hemocromatose hereditária, se não tratada pode levar à cirrose hepática e carcinoma hepatocelular. Os sinais cutâneos podem ter um papel fundamental no diagnóstico precoce, evitando complicações futuras e possibilitando o aconselhamento genético e teste genético aos filhos dos doentes afectados.

Doença de Darier Comedónica

A doença de Darier é uma dermatose autossómica dominante causada por uma mutação do gene ATP2A2. Existem várias variantes clínicas menos frequentes nomeadamente as formas de doença de Darier hipertrófica, vesiculobolhosa, hipopigmentada e a variante comedónica. Apresentamos o caso de um homem saudável de 28 anos de idade, com mais de cem pápulas hiperqueratosicas pruriginosas, simulando comedões abertos, localizadas ao dorso e flancos. O exame histológico mostrou o infundibulo folicular dilatado, contendo rolhões queratina, acantólise suprabasal e células disceratósicas sendo compatível com a doença Darier do tipo comedónica. Existem menos de 10 casos publicados desta variante clínica e histológica.

A Comparative Study of Cardiovascular Tolerability with Slow Extended Dialysis Versus Continuous Haemodiafiltration in the Critical Patient

Background: In the haemodynamically unstable patient the method of treatment of acute renal failure is still largely controversial. The purpose of our study was to compare slow extended dialysis with continuous haemodiafiltration in the critical patient with indication for renal replacement therapy and haemodynamic instability. Patients and Methods: This is a cohort study comparing in 63 ventilated critical patients a 12 month period when only continuous haemodiafiltration was used (n=25) with an equal period of slow extended dialysis (n=38). Our primary objective was to evaluate the impact of the dialytic procedure on cardiovascular stability in those patients. As secondary aims we considered system coagulation/thrombosis and predictors of mortality. In the two groups we analysed the first session performed, the second session performed and the average of all the sessions performed in each patient. Results: In these patients, mortality in the intensive care unit was high (68% in the continuous haemodiafiltration group and 63% in the slow extended dialysis group). We did not find any association between the dialytic technique used and death; only the APACHE score was a predictor of death. Slow extended dialysis was a predictor of haemodynamic stability, a negative predictor of sessions that had to be interrupted for haemodynamic instability, and a predictor of achieving the volume removal initially sought. Slow extended dialysis was also associated with less coagulation of the system. Conclusions: Our data suggested that slow extended dialysis use was not inferior to continuous haemodiafiltration use in terms of cardiovascular tolerability.

Long-Term Survival (>25 Years) of Deceased Donor Kidney Transplant Recipients: a Single-Center Experience

INTRODUCTION: The aim of this preliminary work is to analyze the clinical features of 52 patients with a functional transplanted kidney for >25 years (all first transplant and all deceased donor recipients) and to compare with a similar though more complete study from Hôpital Necker-Paris 2012. METHODS: The mean graft survival at 25 years is 12.7% and at 30 years is 10%. The actual mean serum creatinine concentration is 1.3 mg/L. We analyzed recipient age (mean, 35.9 years) and gender (29 men and 23 women). Donor age was 26.7 ± 10.3 years. Seven patients (13.4%) were transplanted with 1 HLA mismatch, 42.3% with 2 mismatches, and 44.2% with 3 mismatches. Mean cold ischemia time was 15.45 ± 7.7 hours. Of the recipients, 76% had immediate graft function; 38% experienced 1 acute rejection episode and 4 patients had 2 rejection crises. The initial immunosuppressive regimen was azathioprine (AZA) + prednisolone (Pred) in 14 patients, cyclosporin (CSA) + Pred in 13 patients, and CSA + AZA + Pred in 25 patients. Of these patients, 19% maintained their initial regimen, and 54% (28 patients) were very stable on a mixed CSA regimen for >25 years. RESULTS: We present the major complications (diabetes, neoplasia, and hepatitis C virus positivity). CONCLUSION: Our results in deceased donor kidney recipients for >25 years are similar to the mixed population (deceased donors and living donors) presented by the Necker group, although 54% of our patients remain on CSA immunosuppression, contradicting the idea that its use is not compatible with good long-term kidney function in transplant recipients.

Renal Transplantation in HIV-Infected Patients: The First Portuguese Review

INTRODUCTION: With the introduction of combination antiretroviral therapy (cART), prognosis of human immunodeficiency virus (HIV) infection has been improved and kidney transplantation (KT) in HIV-positive patients became possible. METHODS: We reviewed the demographic, clinical, laboratory, and therapeutic data of all the HIV-infected patients who underwent KT between 2009 (first KT in Portugal in a HIV-infected patient) and May 2014. Case accrual was through all Portuguese KT centers where a KT in an HIV-infected patient was performed. Patients were transplanted following the American and Spanish guideline recommendations that included maintenance on cART, undetectable plasma HIV RNA copies, and absolute CD4 counts of ≥ 200 cells/μL in the last 6 months. RESULTS: Fourteen KT were performed on men and 3 on women. The mean age of patients at the time of transplantation was 49.9 ± 11.7 years. HIV status was known for 12 ± 5 years. Eight patients had AIDS in the past and all patients received grafts from deceased donors. Twelve patients (64.7%) underwent induction therapy with basiliximab and 2 patients experienced early graft loss. In 2 patients, humoral rejection was diagnosed and in 3 patients, cellular rejection. Two patients died and an additional patient had early graft loss. CONCLUSION: KT is a possible, but challenging, renal replacement therapy in selected HIV-positive patients. Even in those with AIDS criteria in the past, when the disease is controlled, and after the reconstitution of the immune system with cART, KT can be performed. Nevertheless, the risk-benefit ratio for each patient needs to be taken in consideration.

Henoch-Schönlein Purpura Associated with Pulmonary Adenocarcinoma

Introduction: The Henoch-Schönlein purpura (HSP) is an immunoglobulin A (IgA)-mediated smallvessel systemic vasculitis, rare in adults. The association with solid tumours has been described, especially with lung cancer. Case Report: We present the case of a 60-year-old Caucasian male, diagnosed with lung adenocarcinoma that underwent surgical resection without (neo)adjuvant theraphy. Two months latter he was admitted for abdominal pain, purpuric rash on his lower extremities and acute kidney injury, with serum creatinine (Scr) of 2 mg/dl. Urinalysis revealed haematuria and 24h proteinuria (P24h) of 1.5 g. The serum protein electrophoresis, complement components C3 and C4, circulating immune complexes, cryoglobulins, ANCA, ANA, anti-dsDNA and the remaining immunologic study as screening for viral infections (HCV, HBV and HIV) were negative. Renal ultrasound was normal and kidney biopsy revealed mild mesangial proliferation; 2 cellular glomerular crescents and 1 fibrinoid necrosis lesion; large amounts of red blood cell casts; lymphocytic infiltration in the intertubular interstitial capillaries; moderate arteriolar hyalinosis. Immunofluorescence demonstrated mesangial and parietal deposits of IgA. The diagnosis of HSP was assumed, and the patient started prednisolone 1 mg/kg/day. Ten months after diagnosis the patient’s baseline Scr is 1.4 mg/dl with P24h of 0.18g, without haematuria. Conclusion: Although this is a rare association and the exact mechanism behind the disease is yet unknown, physicians should be aware of it. The early recognition and treatment may prevent renal disease progression.

Benefits of Selective Vitamin D Receptor Activators in Kidney Transplanted Patients

Severe chronic kidney disease may lead to disturbances, such as hyperphosphatemia, increased secretion of fibroblast growth factor -23 (FGF -23) and vitamin D deficiency. These may increase plasmatic levels of parathyroid hormone, and decrease plasmatic levels of calcium. Altogether, these may contribute to the development of secondary hyperparathyroidism, and to abnormalities in mineral metabolism. Kidney transplantation is the best option to improve longevity and quality of life in end -stage chronic kidney disease patients. Vitamin D deficiency has been associated with cardiovascular disease, which is the leading cause of death in chronic kidney disease. Therefore, diagnosing this deficiency may be pivotal for minimizing mortality in chronic kidney disease, because pharmacological treatments for this deficiency may be prescribed. Calcitriol is indicated for the treatment of vitamin D deficiency, both in chronic kidney disease and in kidney transplanted patients. However, calcitriol may increase the plasmatic levels of calcium and phosphorous, which can lead to vascular calcifications, that have been associated with cardiovascular mortality. Selective vitamin D receptor activators are indicated for the treatment of vitamin D deficiency in chronic kidney disease. These have the advantage of being associated with lower increases of plasmatic levels of calcium and phosphorous. These drugs also seem to have additional effects that may minimise patient morbidity and mortality, especially due to potentially reducing cardiovascular events. Unfortunately, there are few studies about the use of these drugs in kidney transplanted patients. Here we present a review about the physiology of vitamin D, the consequences of its deficiency in chronic kidney disease and in kidney transplanted patients, and about the diagnosis and treatment of this deficiency. Finally, we discuss the new line of research about the efficacy and safety of selective vitamin D receptor activators in kidney transplanted patients.

Baseline Susceptibility of Primary HIV-2 to Entry Inhibitors

BACKGROUND: The baseline susceptibility of primary HIV-2 to maraviroc (MVC) and other entry inhibitors is currently unknown. METHODS: The susceptibility of 19 HIV-2 isolates obtained from asymptomatic and AIDS patients and seven HIV-1 clinical isolates to the fusion inhibitors enfuvirtide (ENF) and T-1249, and to the coreceptor antagonists AMD3100, TAK-779 and MVC, was measured using a TZM-bl cell-based assay. The 50% inhibitory concentration (IC(50)), 90% inhibitory concentration (IC(90)) and dose-response curve slopes were determined for each drug. RESULTS: ENF and T-1249 were significantly less active on HIV-2 than on HIV-1 (211- and 2-fold, respectively). AMD3100 and TAK-779 inhibited HIV-2 and HIV-1 CXCR4 tropic (X4) and CCR5 tropic (R5) variants with similar IC(50) and IC(90) values. MVC, however, inhibited the replication of R5 HIV-2 variants with significantly higher IC(90) values (42.7 versus 9.7 nM; P<0.0001) and lower slope values (0.7 versus 1.3; P<0.0001) than HIV-1. HIV-2 R5 variants derived from AIDS patients were significantly less sensitive to MVC than variants from asymptomatic patients, this being inversely correlated with the absolute number of CD4(+) T-cells. CONCLUSIONS: T-1249 is a potent inhibitor of HIV-2 replication indicating that new fusion inhibitors might be useful to treat HIV-2 infection. Coreceptor antagonists TAK-779 and AMD3100 are also potent inhibitors of HIV-2 replication. The reduced sensitivity of R5 variants to MVC, especially in severely immunodeficient patients, indicates that the treatment of HIV-2-infected patients with MVC might require higher dosages than those used in HIV-1 patients, and should be adjusted to the disease stage.