Diet therapy and metabolic control among Chilean adults with a neonatal diagnosis of Phenylketonuria

Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and neurotoxicity. Diagnosis must occur in the neonatal period and treatment should begin as early as possible. Evidence implies that treatment adherence declines as age advances. The aim was to describe the diet of a subgroup of Chilean adults with PKU currently in follow-up. Fifty-three subjects (49% women) followed up between January 2021 to April 2023 were considered. The concentration of Phe (PheC) in dried blood spots measured by fluorometry and 24-hour dietary recalls were analyzed. The median PheC of the sample was 438µmol/L (interquartile range(IQR):351-585µmol/L). A protein intake of 1.35±0.3 gr/Kg/d was observed of which 87% came from the protein substitute without Phe. Participants had a median Phe intake of 459mg/d (IQR:327-976) and 13.1g/d of fiber intake. Most participants, 51% and 92% reported consuming fruits and vegetables, respectively, and 32% consumed Low-Protein foods. Regarding micronutrients, all participants exceeded 90% adequacy according to recommendations. For vitamin-D and vitamin-B12, 100% is provided by the protein substitute. According to our results, it is mandatory to establish transition programs toward adulthood, to constantly maintain good metabolic control, and to adapt diet therapy to their new lifestyle.

Usefulness of sirolimus as rescue therapy in heart transplant recipients with renal failure: analysis of the Spanish Multicenter Observational Study (RAPACOR).

BACKGROUND: Chronic renal failure is a common complication of heart transplantation. Sirolimus (SRL) is an immunosuppressive drug that, unlike calcineurin inhibitors (CNIs), is not associated with nephrotoxicity. METHODS: We collected efficacy and safety data from a Spanish registry of heart transplant recipients who were switched from a CNI to SRL due to renal failure. Patients were included if the serum creatinine level before switching was >1.5 mg/dL and/or the estimated creatinine clearance level was below 50 mL/min. RESULTS: Ninety-seven patients started SRL due to renal impairment. When SRL was started, CNIs were progressively tapered and in some cases withdrawn. Mean baseline creatinine level was 2.5 mg/dL and mean creatinine clearance level was 39 mL/min. Only 1 episode of acute rejection was observed in a patient receiving SRL plus cyclosporine (CsA) but the eventual allograft function remained stable. Compared with baseline, a significant improvement in renal function was observed at 6 months among patients who stopped CNIs before the third month after SRL was started, although not among those who continued taking CNIs. Upon multivariate analysis, no predictors of response were observed. SRL was withdrawn in 18% of patients due to adverse events. CONCLUSIONS: Switching to SRL was safe in heart allograft recipients, improving renal function among those previously receiving a CNI. Renal function improves if CNIs are withdrawn soon after starting SRL.

Gastrointestinal complications in heart transplant patients: MITOS study.

INTRODUCTION: The most frequent immunosuppressive treatment complications in solid organ transplant recipients are gastrointestinal (GI) disorders. MATERIALS AND METHODS: An observational, cross-sectional study to evaluate the prevalence and management of GI complications in transplanted patients was conducted via a written questionnaire given to doctors at their practice. RESULTS: This study included 1788 patients; 181 corresponded to heart transplant recipients. The mean age for the heart transplant patients was 58.7 +/- 11.8 years. The mean time from the transplantation was 5.2 +/- 4.4 years. GI complications were seen in 38.7% of cases. Regarding the clinical management, in 72.9% of cases patients with GI complications received pharmacologic treatment, 86.3% with gastric protectors, 32.8% reduced the dose of some drug, 8.1% interrupted the drug temporarily, and 10.9% discontinued the drug permanently. The drug that was always discontinued was mycophenolate mofetil (MMF), and in 85.7% of cases in which the dose of an immunosuppressive drug was reduced, the reduced drug was also MMF. CONCLUSIONS: Almost 40% of heart transplant recipients suffered GI complications which affected daily activities in most cases. The most used strategy to manage these complications was based on a treatment with gastric protectors together with dose reduction and/or partial or definitive MMF discontinuation.

[Practice guidelines of the Spanish Society of Cardiology. Cardiac and heart-lung transplants]. / Guías de actuación clínica de la Sociedad Española de Cardiología. Trasplante cardíaco y de corazón-pulmones.

Cardiac transplantation is the only therapy that is able to substantially modify the natural evolution of patients with severe heart failure, along with angiotensin converting enzyme inhibitors. Nevertheless, because of the limited number of donors, its impact is scarce compared to the magnitude of the problem. Up to the end of 1998, 48,541 orthotopic cardiac transplantations and about 2,510 heart and both lung transplantations have been registered throughout the world. In Spain 2,780 procedures have been performed in the last 15 years. The survival expectations for a transplanted patient is 75% after the first year and 60% the following 5 years. The average duration of the graft is 8 years and 6 months. Cardiac transplantation is indicated for young and middle-age patients with irreversible cardiac process in bad clinical condition, with no other possibility of medical or surgical management and with a limited life expectancy. The major debate when choosing this therapy appears with the critical patients, patients older than 65 years, and some patients with systemic diseases. The great demand of transplantation obliges the teams to enlarge the criteria for donors' acceptance. At the same time, the increase of the knowledge about the transmission of some infections, mainly viral, forces to review those criteria day-to-day. The use of different immunosuppressive strategies pursues the control of rejection. The most commonly used is the so-called triple therapy (cyclosporine-azathioprine and steroids). The use of antilymphocytic antibodies such as cytolytic induction treatment is not unanimously accepted. Some of the new immunosuppressive agents such as myphenolate-mofetil and tacrolimus seem to offer advantages mainly due to their greater potency. Since transplantation is a limited procedure, of which its practise has an effect on the whole health system of a country, a perfect planning and adequacy of the Centers is compulsory, as well as the setting-up of clear rules for the use of donors and priority of transplantation. Finally, the patient must be informed clearly and comprehensively at length of the risks, limitations and expectations of these complex procedures.

Cytomegalovirus colitis mimicking a colonic neoplasm or ischemic colitis 4 years after heart transplantation.

BACKGROUND: Cytomegalovirus (CMV) colitis is a polymorphous disease presenting in immunodepressed patients in a variety of clinical forms that can delay diagnosis and therapy. We report the case of a patient who presented with abdominal pain 4 years after heart transplantation; clinical and x-ray findings were suggestive of a neoplastic or ischemic stenosis, and histopathological examination likewise initially suggested an ischemic etiology. METHODS: Tissue samples were fixed in 10% formaldehyde, embedded in paraffin, cut, and stained with hematoxylin/eosin and periodic acid-Schiff-Alcian Blue. Immunohistochemistry with monoclonal antibodies was performed using an indirect immunoperoxidase method. RESULTS: CMV colitis was eventually diagnosed and resolved with surgery and specific anti-CMV therapy. CONCLUSIONS: CMV colitis should be suspected in any heart transplant patient with signs or symptoms of abdominal pathology, even without classical signs or symptoms of CMV infection. If stenotic lesions are present, surgery may be required not only to remove the obstruction but also to rule out malignancy.

[Cardiac myxoma. Anatomo-clinical and immunohistochemical study of 13 cases]. / Mixomas cardíacos. Estudio anatomoclínico e inmunohistoquímico de 13 casos.

INTRODUCTION: Cardiac myxomas are the most frequent benign heart tumors, and have an uncertain histogenesis. An endothelial, subendocardial and an undifferentiated mesenchymal cell origin with vasoformative characteristics has been suggested. The aim of this study was to make a review the cardiac myxomas at our institution paying special attention to its histogenesis. MATERIAL AND METHODS: We reviewed the clinico-pathological features of the 13 cardiac myxomas studied at our hospital, and we stained them with immunohistochemical stains. RESULTS: The average age on presentation was 62.8 years. 12 cases were left atrial, one of them with cerebral metastasis. The average size was 6.3 cm. Microscopically all of them were composed of a myxoid-matrix with spindled cells and small neoformed vessels. The tumors were completely positive for Vimentin and randomly positive with Actin and VIII-RA. CAM 5.2 was strictly negative. CONCLUSION: These results show that these kinds of tumors are neoplasms arising from mesenchymal pluripotential cells which are capable of many types of differentiation (endothelium, etc).

Rhodococcus equi: first case in a heart transplant recipient.

Rhodococcus equi is a gram-positive diphtheroid that occasionally affects immunocompromised patients, usually causing a chronic respiratory infection with cavitating pulmonary opacities on chest radiograph that resemble mycobacterial or fungal disease. Etiologic diagnosis presents a number of pitfalls, because Rhodococcus equi isolates mimic many of the characteristics of other microorganisms more familiar to the laboratory staff. The treatment of choice for this disease has not yet been established, and its mortality rate is greater than 50% in individuals with human immunodeficiency virus and 20% to 25% among the remaining patients. We describe here the first case of Rhodococcus equi infection in a heart transplant recipient. Clinical presentation was typical, and treatment with a sensitivity-based combination of antibiotics resulted in resolution of both the clinical and radiologic picture.

Heart transplantation in a patient with liver hydatidosis.

The human can serve as an accidental intermediate host to Echinococcus granulosus, a parasite that targets dogs as its definitive hosts. We present the case of a 27-year-old man with liver hydatidosis, who underwent heart transplantation because of ischemic cardiomyopathy. The immunosuppressor treatment had no effect on the size of the cysts, which were removed surgically 14 months after heart transplantation; good results persist after 3 years of follow-up.

Heart transplantation for cardiac angiosarcoma: should its indication be questioned?

Two men, aged 31 and 32 years, respectively, underwent orthotopic heart transplantation, in both cases to treat primary cardiac angiosarcoma of the right atrium. Total removal of the tumor was performed, and no evidence was found of distant dissemination at the time of surgery. Their postoperative progress was good; however, the patients died 8 and 9 months after transplantation, respectively, of multiple brain metastases. We do not consider heart transplantation to be indicated in the management of malignant cardiac tumors.