COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.

Background: Alport syndrome is a hereditary kidney disease characterized by hematuria and proteinuria. Although there have been reports of autosomal dominant COL4A4 variants, this is likely an underdiagnosed condition. Improved access to affordable genetic testing has increased the diagnosis of Alport syndrome.

Contrast-induced thrombocytopenia following percutaneous coronary intervention.

Contrast-induced thrombocytopenia is a rare complication distinguished by acute and severe platelet consumption, with spontaneous recovery within days. We describe a case of acute thrombocytopenia 6 hours after coronary angioplasty in a patient with a negative antiplatelet factor 4 test. The count reached 1 × 10/µL, but improved spontaneously to 210 × 10/µL after 8 days.

Tolerability of up to 200 days of prophylaxis with valganciclovir oral solution and/or film-coated tablets in pediatric kidney transplant recipients at risk of cytomegalovirus disease.

This multicenter, open-label study evaluated the tolerability of extended prophylaxis with valganciclovir in pediatric kidney transplant recipients at risk of CMV disease. Fifty-six patients aged 4 months to 16 years received once-daily valganciclovir oral solution and/or tablets, dosed by BSA and renal function, for up to 200 days. The most common AEs on treatment were upper respiratory tract infection (33.

Can transition to adult care for transplant recipients be improved by intensified services while patients are still in pediatrics?

Context-Transferring out of pediatrics is a vulnerable time for transplant recipients. Use of a transition coordinator before and after transfer improves outcomes, although it is unclear whether placing a transition coordinator in pediatrics alone is beneficial. Objective-To determine if incorporating a transition coordinator in pediatrics only is associated with stable outcomes for kidney transplant recipients.

Identifying predictive factors for posttransplant lymphoproliferative disease in pediatric solid organ transplant recipients with Epstein-Barr virus viremia.

Epstein-Barr virus (EBV) viremia (EV) in pediatric solid organ transplant (SOT) recipients is a significant risk factor for posttransplant lymphoproliferative disease (PTLD) but not all patients with EV develop PTLD. We identify predictive factors for PTLD in patients with EV. We conducted a retrospective chart review of all pediatric SOT recipients (0 to 21 y) at a single institution between 2001 and 2009.

IFNAR1 controls progression to cerebral malaria in children and CD8+ T cell brain pathology in Plasmodium berghei-infected mice.

Development of cerebral malaria (CM), a severe and fatal form of clinical Plasmodium falciparum infection, results from a damaging cascade of vascular, inflammatory, and immunological host responses that leads to brain injury. Progression to CM can be modified by host genetic factors. Our case-control study in Angolan children aimed at highlighting the role of IFN (α, β) receptor 1 (IFNAR1) in progression to CM.

Arterial thrombosis and acute myocardial infarction with angiographically normal coronary arteries in a woman heterozygous for both factor V Leiden and prothrombin mutation.

Thirteen years after her last thrombotic event, anticoagulation was discontinued in a patient with combined thrombophilia involving mutation in factor V and G20210A polymorphism of the prothrombin gene. The only history was of arterial thrombosis. Three months later she presented a transmural myocardial infarction caused by coronary thrombosis.

Treatment of recurrent focal segmental glomerulosclerosis in pediatric kidney transplant recipients: effect of rituximab.

Recurrence of focal segmental glomerulosclerosis (FSGS) after renal transplantation is a complication that often leads to graft loss. There is no consensus on the optimal treatment of recurrent FSGS. Rituximab, a monoclonal antibody to CD20, may be a useful treatment of this complication.

Transforming growth factor beta 2 and heme oxygenase 1 genes are risk factors for the cerebral malaria syndrome in Angolan children.

Background: Cerebral malaria (CM) represents a severe outcome of the Plasmodium falciparum infection. Recent genetic studies have correlated human genes with severe malaria susceptibility, but there is little data on genetic variants that increase the risk of developing specific malaria clinical complications. Nevertheless, susceptibility to experimental CM in the mouse has been linked to host genes including Transforming Growth Factor Beta 2 (TGFB2) and Heme oxygenase-1 (HMOX1).

Prevalence of pfmdr1, pfcrt, pfdhfr and pfdhps mutations associated with drug resistance, in Luanda, Angola.

Background: Malaria is the infectious disease causing the highest morbidity and mortality in Angola and due to widespread chloroquine (CQ) resistance, the country has recently changed its first-line treatment recommendations for uncomplicated malaria, from CQ to artemisinin combination therapies (ACT) in adults, and sulphadoxine/pyrimethamine (S/P) in pregnant women. Loss of SP sensitivity is, however, progressing rapidly in Africa and, in this study, were investigated a number of molecular markers associated to CQ and S/P.

Methods: Blood samples were collected from 245 children with uncomplicated malaria, admitted at the Pediatric Hospital Dr.

Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome.

Background And Objectives: A male infant with a family history of thrombotic microangiopathy developed atypical hemolytic uremic syndrome (aHUS).

Design, Setting, Participants, & Measurements: Case report.

Results: Genetic analysis demonstrated a heterozygous mutation (S1191L) of CFH, the gene coding complement factor H (CFH).

A rare association of systemic lupus erythematosus, morbid obesity and Takotsubo Syndrome.

The authors report a 68-year-old white female with long-term systemic lupus erythematosus as well as morbid obesity, characterized by very elevated body mass index, who presented a classical picture of acute coronary failure ascribed to Takotsubo syndrome.

Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.

A male child initially presented with atypical hemolytic uremic syndrome (HUS) at the age of 4 months and progressed within weeks to end stage renal disease (ESRD). At the age of 2 years he received a live-related kidney transplant from his mother, which, despite initial good function, was lost to recurrent disease after 2 weeks. Complement factor H analysis showed low serum levels and the presence of two mutations on different alleles (c.

Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.

Background: The fixed dose combination atovaquone-proguanil is a recently introduced antimalarial for treatment and prophylaxis of Plasmodium falciparum malaria. It is highly effective with a good tolerability profile and a convenient prophylactic regimen. Nevertheless, cases of treatment failure have already been reported, which have been associated to mutations in the cytochrome b gene of the Plasmodium (pfcytb).

Persistent respiratory insufficiency secondary to diastolic heart failure.

This study assessed two 85-year-old patients diagnosed with diastolic heart failure and persistent respiratory insufficiency characterized by severe obstructive ventilatory disorder and gas exchange alterations. The possibility that the respiratory impairment was consequent to primary pulmonary disease was excluded. Radiological signs of mild pulmonary edema had been observed in 1 of the patients during the 4 years preceding the first hospitalization.

Fulminant recurrence of atypical hemolytic uremic syndrome during a calcineurin inhibitor-free immunosuppression regimen.

Recurrence of hemolytic uremic syndrome (HUS) after kidney transplantation is frequent, occurring almost exclusively in patients with atypical HUS, which is not caused by Escherichia coli gastroenteritis and in which diarrhea is absent. Calcineurin inhibitors are associated with recurrence of HUS. In two children who underwent living donor kidney transplantation for atypical HUS, we pre-emptively employed sirolimus in a calcineurin inhibitor-free immunosuppression regimen.

Developmental expression of ROMK mRNA in rabbit cortical collecting duct.

The cortical collecting duct (CCD) is a major site of regulation of K+ homeostasis in the fully differentiated mammalian kidney. CCDs isolated from adult rabbits and microperfused in vitro secrete K+ into the tubular fluid at high rates. However, CCDs dissected from newborn animals show no significant net K+ secretion until the 3rd wk of life, at least in part because of a paucity of conducting apical secretory K+ (SK) channels.

[Captopril in the treatment of patients with congestive heart failure. Its bicycle ergometry evaluation].

Purpose: To analyze the physical performance of the patients with congestive heart failure (CHF), grades I and II of the New York Heart Association (NYHA), submitted to ergometric test: 1) under conventional treatment with digitalis and diuretic; 2) with an angiotensin converting enzyme inhibitor, captopril, associate with conventional treatment; 3) using captopril associated with digitalis or diuretic.

Methods: A randomized double blind study was performed in 20 patients with CHF (I and II-NYHA) submitted to ergometric test in different therapeutic phases. The initial workload was 5 watts and load was increased until the appearance of limiting symptoms.

[Supravalvular aortic stenosis in two black patients].

Two male black patients, 18 and 12-year-old, with mental retardation and typical elfin face, presented with severe supravalvular aortic stenosis, thus characterizing Williams's or aortic supravalvular stenosis syndrome. Both were submitted to surgical treatment of the stenosis, and are asymptomatic after a one and four years follow-up. For the first time this syndrome, in its classical form, is described in black patients.

[Unstable angina, Prinzmetal's variant and transient Q waves. Report of a case].

A case is reported of the variant form of Prinzmetal angina, occurring two months after effort angina, in which the electrocardiogram revealed a Q wave in V2 in addition to ST segment elevation in precordial leads all of which disappeared in a few minutes. Several hours later, the ECG changes were suggestive of antero-septal infarction. However, four days later an R wave was present in lead V2, and 12 days after the acute episode, the tracing became entirely normal.