Kostmann syndrome: oral aspects and 10‐year follow‐up case report

Kostmann syndrome (KS) is an autosomal recessive disorder characterized by a low neutrophil count and recurrent bacterial infections, including periodontal disease. This report describes the case of a 5‐year‐old female KS patient treated with regular infusions of granulocyte stimulating factor (granulokine), with primary complaint of gingival bleeding and tooth mobility, and followed up for 10 years. Conventional periodontal treatment and some extractions were performed, after neutrophil function tests using flow cytometry. The invasive procedures were carried out at an outpatient clinic under antibiotic prophylaxis due to a low neutrophil count and an impaired neutrophil function presented. During the 10‐year follow‐up period, despite episodes of recurrent gingivitis and periodontitis the present report describes the positive outcome of dental treatment of a patient with KS.     

Auditory function in presbycusis: peripheral vs. central changes

The hearing abilities of a group of 30 elderly (67-93 yr of age) subjects were compared with those of a group of 30 young (19-27 yr of age) normal hearing volunteers with the aim of characterizing the changes in the peripheral and central parts of the auditory system. In elderly subjects the pure-tone thresholds were typically represented by a gradually sloping curve with a significantly greater decline in men than in women at frequencies of 3 and 4 kHz. In spite of pure tone threshold elevation in the elderly, the difference limen for intensity at 1 and 3 kHz were not significantly smaller than in the young subjects. The incidence and levels of spontaneous, transient and distortion product otoacoustic emissions were low, which would suggest the involvement of outer hair cell pathology. Also, contralateral suppression was less marked in elderly than in young subjects. Speech audiometry in the elderly revealed serious difficulties in understanding speech. Deteriorated temporal resolution, as demonstrated by increased gap detection thresholds, correlated significantly with increased speech recognition thresholds. The results support the view that presbycusis represents a combination of deteriorated function of the auditory periphery with deteriorated function of the central auditory system.     

Oxidative DNA damage in relation to nutrition

Oxidative DNA damage in humans could arise also from incorrect nutritional habit and life style. DNA strand breaks with apurinic/apyrimidinic sites, oxidized purines and oxidized pyrimidines were assessed in 24 subjectively healthy vegetarians (plant food, dairy products, eggs) and compared with 24 non-vegetarians (traditional diet, general population). DNA strand breaks + oxidized purines are significantly reduced in vegetarians (p<0.05), DNA strand breaks are nonsignificantly decreased. The sufficient antioxidative status (overthreshold values of natural essential antioxidants, which mean a reduced risk of free radical disease) is crucial in free radical defense. Intake of protective food commodities (fruit, vegetables, dark grain products, grain sprouts, oil seeds) is significantly higher in vegetarians. Alternative nutrition subjects have a significantly increased plasma levels of vitamin C, vitamin E, beta-carotene with high incidence of overthreshold values (92% vs. 42% - vitamin C, 67% vs. 33% - vitamin E, 67% vs. 17% - beta-carotene). There is recorded a significant inverse linear correlation between values of DNA strand breaks + oxidized purines and vitamin C or beta-carotene levels (p<0.01, p<0.05). Vegetarian diet is significantly more rich source of antioxidants. The results of reduced endogenous DNA damage and higher antioxidative status in vegetarians document that a correct vegetarian nutrition might represent an effective cancer prevention.     

Protein-caloric food restriction affects insulin-like growth factor system in fetal Wistar rat

We have previously shown that fetuses from protein-caloric undernourished pregnant rats (35% of control diet during the last week of pregnancy) at 21.5 d post coitum exhibit increased beta-cell mass. This alteration is correlated with increased insulinemia and total pancreatic insulin content, a pattern similar to that reported in infants of mild diabetic mothers. In this work, we investigated in undernourished fetuses: 1) whether availability of growth factors such as insulin, GH, and IGFs and their binding proteins (IGFBPs) could be implicated in this alteration, and 2) the beta-cell mitogenic response to IGFs in vitro. The results show that maternal undernutrition increases pancreatic IGF-I expression and islet IGF-I receptor content in undernourished fetuses, whereas hepatic IGF-I expression and serum IGF-I levels were decreased. No changes were observed in serum IGF-II, and its expression was diminished in undernourished pancreases and unchanged in the liver, compared with control fetuses. Serum levels and liver and pancreatic mRNA expression of IGFBP-1 were found to be normal in undernourished fetuses, whereas the serum concentration and abundance of IGFBP-2 mRNA in pancreas were increased. Finally, the beta-cell mitogenic response to IGFs in vitro was significantly increased in undernourished fetal islets, compared with controls. In conclusion, in undernourished fetuses the increased beta-cell mass can be related to the stimulation of replicative beta-cell response due to locally increased pancreatic IGF-I mRNA; this effect is perhaps potentiated or favored by the enhanced islet IGF-I receptor content and pancreatic IGFBP-2 gene expression.     

Bacterial infections in cirrhosis: epidemiological changes with invasive procedures and norfloxacin prophylaxis.

The extensive use of invasive procedures and of long-term norfloxacin prophylaxis in the management of cirrhotic patients may have influenced the epidemiology of bacterial infections in cirrhosis. We conducted a prospective evaluation of all bacterial infections diagnosed in patients with cirrhosis in a Liver Unit between April 1998 and April 2000. A total of 405 patients presented 572 bacterial infections in 507 admissions. Spontaneous bacterial peritonitis was the most frequent infection (138 cases). Gram-positive cocci were responsible for 53% of total bacterial infections in the study, being the main bacteria isolated in nosocomial infections (59%). Patients requiring treatment in an intensive care unit and those submitted to invasive procedures presented a higher rate of infections caused by gram-positive cocci (77% vs. 48%, P <.001 and 58% vs. 40%, P <.02, respectively). Fifty percent of culture-positive spontaneous bacterial peritonitis in patients on long-term norfloxacin administration (n = 93) and 16% in patients not receiving this therapy (n = 414) were caused by quinolone-resistant gram-negative bacilli, P =.01. The rate of culture-positive spontaneous bacterial peritonitis caused by trimethoprim-sulfamethoxazole-resistant gram-negative bacilli was also very high in patients on long-term norfloxacin administration (44% vs. 18%, P =.09). In conclusion, infections caused by gram-positive cocci have markedly increased in cirrhosis. This phenomenon may be related to the current high degree of instrumentation of cirrhotic patients. Quinolone-resistant spontaneous bacterial peritonitis constitutes an emergent problem in patients on long-term norfloxacin prophylaxis, with trimethoprim-sulfamethoxazole not being a valid alternative.     

Dual-photon bone densitometry in dialyzed patients

In non-invasive diagnosis of renal osteodystrophy the levels of bone minerals and the extent of bone turnover are evaluated. The contents of bone minerals are assessed quantitatively by different modalities of bone densitometry, among which the most accurate one is double-energy bone densitometry. So far no standard examination method was defined nor the most suitable portion of the skeleton for densitometric examination. In order to find such an area and also to assess the prevalence of bone demineralization, its severity and regional differences the authors made a cross-sectional study of bone density in dialyzed patients. The group comprised 45 patients, 24 men and 21 women subjected to regular dialyzation treatment for 20-24 months. In a lambda whole body bone densitometry was performed with evaluation of regional densities of the trunk, upper and lower extremities. At the same time the state of bone turnover was assessed arbitrarily using values of serum concentrations of intact parathormone; parathormone concentrations below 50 pg/ml were considered low, above 200 pg/ml high and concentrations within the mentioned range as the normal bone turnover. In the group of patients 62% had a high, 22% a normal and 16% a low bone turnover. The study provided evidence of a significant reduction of bone density (Z score <-1) in 58% of patients. In 92% of patients demineralization affected most and first the extremities. In 69% it affected the lower extremities and in 23% the upper ones. 8% of the patients had the most severe affections in the area of the trunk. This order of affliction was not influenced by bone turnover, sex and in women by age. The diaphysis of long bones seems to be a representative examination area of the skeleton for densitometric measurements in patients with regular dialyzation treatment.     

Bronchioloalveolar adenoma associated with bronchiolitis obliterans and leishmaniasis with lung involvement in acquired immunodeficiency syndrome

Visceral leishmaniasis is not unusual in patients with acquired immunodeficiency syndrome (AIDS), but lung infiltration is uncommon. Leishmaniasis involving the lung often manifests as interstitial pneumonitis. We report a case in which the discovery of amastigotes in the transbronchial biopsy led to a diagnosis of leishmaniasis. However, the findings from x-rays and study of the bronchoalveolar lavage fluid were consistent with bronchiolitis obliterans, possibly caused by the AIDS virus. In addition, the transbronchial biopsy findings were consistent with a diagnosis of bronchioloalveolar adenoma with radiographic evidence of multiple nodules.