Evaluation of patients with phenylalanine metabolism disorder: a single center experience.

AIM: The aim is to evaluate the clinical, demographic and laboratory data of the patients we followed up with phenylalanine metabolism disorder. MATERIALS AND METHODS: In this study, patients with phenylalanine metabolism disorder who applied to Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Pediatric Metabolism Department between 2011 and 2021 were retrospectively examined. The files of 397 patients who were followed up in our pediatric metabolism outpatient clinic and were found to have phenylalanine metabolism disorder by plasma phenylalanine level and molecular genetic analysis were evaluated. RESULTS: According to the highest plasma phenylalanine levels at admission, mild hyperphenylalaninemia phenotype constituted the largest group of 397 patients with 282 cases (71.1%), while the least common phenotype was malignant phenylketonuria (BH4 metabolism disorder) with four patients (1.0%). The number of patients with classical phenylketonuria was 90 (22.6%). 61 (62.8%) of 97 phenylalanine metabolism disorder cases who underwent BH4 loading test had a response. The mean phenylalanine level of the patients was 3.62 ± 1.31 mg/dL in mild hyperphenylalaninemia, 7.98 ± 3.99 mg/dL in mild phenylketonuria and 11.71 ± 4.39 mg/dL in classical phenylketonuria. While 241 (76%) of 317 patients younger than 8 years old were in the well-controlled group, 76 (24%) were in the poorly-controlled group. While 41 (53.9%) of 76 patients older than 8 years of age were in the well-controlled group, 35 (46.1%) were in the poorly-controlled group. CONCLUSIONS: In our study, the largest patient group consisted of patients with mild hyperphenylalaninemia, and the least common phenotype was mild phenylketonuria.

Delftia acidovorans: A rare pathogen in immunocompetent and immunocompromised patients.

Delftia acidovorans is an aerobic, nonfermenting Gram-negative bacillus. It is usually a nonpathogenic environmental organism and is rarely clinically significant. Although D acidovorans infection most commonly occurs in hospitalized or immunocompromised patients, there are also several reports documenting the infection in immunocompetent patients. The present article describes a B cell lymphoblastic leukemia patient with D acidovorans pneumonia who was successfully treated with antibiotic therapy. The present report indicates that unusual pathogens may be clinically significant in both immunocompromised and immunocompetent patients. D acidovorans is often resistant to aminoglycosides; therefore, rapid detection of this microorganism is important.

Le Delftia acidovorans est un bacille aérobie à Gram négatif sans pouvoir de fermentation. C'est un organisme généralement non pathogène présent dans l'environnement, qui est rarement significatif sur le plan clinique. Même si l'infection à D acidovorans s'observe surtout chez des patients hospitalisés ou immunodéprimés, plusieurs rapports le signalent chez des patients immunocompétents. Le présent article décrit un patient atteint d'une leucémie lymphoïde de type B compliquée par une pneumonie à D acidovorans éradiquée par antibiothérapie. D'après le présent rapport, des agents pathogènes inhabituels peuvent être cliniquement significatifs à la fois chez les patients immunodéprimés et chez les patients immunocompétents. Puisque le D acidovorans résiste souvent aux aminosides, il est important de le déceler rapidement.

Successful treatment of an invasive fungal infection caused by Talaromyces sp. with voriconazole.

Invasive fungal infections (IFI) are on the rise due to increasing numbers of immunosuppressed and critically ill patients. A malignant-looking pulmonary nodule in an immunosuppressed patient may indeed be caused by a fungal organism. We report a patient, who was eventually diagnosed with an IFI caused by an agent of hyalohyphomycosis, Talaromyces sp. determined via molecular methods and succesfully treated with voriconazole.

The prevalence of infectious agents in patients with systemic sclerosis.

BACKGROUND/AIM: Systemic sclerosis (SSc) is an autoimmune disease characterized by microvascular injury, excessive extracellular matrix deposition, and fibrosis in the skin and internal organs. Bacterial and viral infectious agents have been suspected to be contributing factors in the development and progression of the pathologic features of SSc. MATERIALS AND METHODS: In this study, 30 SSc patients who were admitted to the rheumatology unit of the Konya Training and Research Hospital and 30 healthy controls were included. The presence of 9 different antibodies (IgM and IgG) against Helicobacter pylori, cytomegalovirus (CMV), Epstein-Barr virus (EBV), and parvovirus B19 were investigated in sera samples obtained from the 60 participants using an enzyme-linked immunosorbent assay method. The characteristics of current and past infections with H. pylori, CMV, EBV, and parvovirus B19 were evaluated by determining the seropositivity of the tested bacterial and viral agents. RESULTS: The prevalences of H. pylori, CMV, EBV, and parvovirus B19 were determined to be higher in patients with SSc than in the control group. CONCLUSION: SSc is associated with a higher rate of certain infections, which deserves further investigation in order to assess the role of infections in disease etiology/pathogenesis.

Betulinic acid protects against ischemia/reperfusion-induced renal damage and inhibits leukocyte apoptosis.

The possible protective effect of betulinic acid on renal ischemia/reperfusion (I/R) injury was studied. Wistar Albino rats were unilaterally nephrectomized and subjected to 45 min of renal pedicle occlusion followed by 6 h of reperfusion. Betulinic acid (250 mg/kg, i.p.) or saline was administered at 30 min prior to ischemia and immediately before the reperfusion. Creatinine, blood urea nitrogen (BUN), lactate dehydrogenase (LDH) and TNF-alpha as well as the oxidative burst of neutrophil and leukocyte apoptosis were assayed in blood samples. Malondialdehyde (MDA), glutathione (GSH) levels, Na(+), K(+)-ATPase and myeloperoxidase (MPO) activities were determined in kidney tissue which was also analysed microscopically. I/R caused significant increases in blood creatinine, BUN, LDH and TNF-alpha. In the kidney samples of the I/R group, MDA levels and MPO activity were increased significantly, however, GSH levels and Na(+), K(+)-ATPase activity were decreased. Betulinic acid ameliorated the oxidative burst response to both formyl-methionyl-leucyl-phenylalanine (fMLP) and phorbol 12-myristate 13-acetate (PMA) stimuli, normalized the apoptotic response and most of the biochemical indices as well as histopathological alterations induced by I/R. In conclusion, these data suggest that betulinic acid attenuates I/R-induced oxidant responses, improved microscopic damage and renal function by regulating the apoptotic function of leukocytes and inhibiting neutrophil infiltration.