Elevated sweat chloride test: is it always cystic fibrosis?

BACKGROUND: The sweat chloride test (ST) is the gold standard for cystic fibrosis (CF) diagnosis in symptomatic patients, within the newborn screening and in the follow-up of CF patients during molecular therapies. However, false positives have been reported in patients with different diseases. We describe and discuss 4 cases due to different clinical conditions in which we recorded false positive ST, and the test remained altered for a period of varying length. CASES PRESENTATION: Case 1: Eight months old female child suffering from constipation, recurrent vomiting and failure to thrive, family history of recurrent pancreatitis without mutations in the PRSS1 and SPINK1 genes. Both ST and fecal elastase were altered although no CFTR gene mutations were found. Due to rapid clinical deterioration, celiac disease was suspected and diagnosed by laboratory tests and intestinal biopsy. After 2 weeks of gluten-free diet ST and fecal elastase normalized. Case 2: 14 months old male suffering from bilateral renal dysplasia, episodes of metabolic alkalosis, recurrent respiratory infections and recurrent vomiting. The child had more ST positives, but no CFTR mutations were found. During follow-up, he developed sensorineural hearing loss and an atrial septic defect was found. Finally, a diagnosis of Klinefelter was made, but the ST normalized several years later. Case 3 and 4: Two boys with stubborn constipation and fecal occlusion treated with Poly Ethylene Glycol (PEG) with salts showed pathological ST. The test returned normal a few days after stopping treatment. CONCLUSIONS: We hypotesized the possible causes of ST alteration in these conditions: in celiac disease it could be due to a transient dysregulation of the aquaporins, rapidly reversed by the diet; in Klinefelter, it may be due to stable pubertal hypoandrogenism; while, the PEG formulation itself contains salts that can temporarily alter ST.

Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia.

OBJECTIVE: To assess whether different patterns of EEG rhythms during a Go/No-go motor task characterize patients with cortical myoclonus (EPM1) or with spinocerebellar ataxia (SCA). METHODS: We analyzed event-related desynchronization (ERD) and synchronization (ERS) in the alpha and beta-bands during visually cued Go/No-go task in 22 patients (11 with EPM1, 11 with SCA) and 11 controls. RESULTS: In the Go condition, the only significant difference was a reduced contralateral beta-ERS in the EPM1 patients compared with controls; in the No-go condition, the EPM1 patients showed prolonged alpha-ERD in comparison with both controls and SCA patients, and reduced or delayed alpha- and beta-ERS in comparison with controls. In both conditions, the SCA patients, unlike EPM1 patients and controls, showed minimal or absent lateralization of alpha- and beta-ERD. CONCLUSIONS: EPM1 patients showed abnormal ERD/ERS dynamics, whereas SCA patients mainly showed defective ERD lateralization. SIGNIFICANCE: A different behavior of ERS/ERD distinguished the two patient groups: the pattern observed in EPM1 suggests a prominent defect of inhibition occurring in motor cortex contralateral to activated segment, whereas the pattern observed in SCA suggested a defective lateralization attributable to the damage of cerebello-cortical network, which is instead marginal in patients with cortical myoclonus.

Influence of simulated apical resorption following orthodontic treatment on working length determination: an in vitro study.

AIM: External apical root resorption (EARR) is a common complication that may occur during and after orthodontic treatment. In case of need of endodontic therapy for a tooth with EARR, it has not been clarified yet which benefits can be derived by the use of electronic apex locators (EALs). The present study aimed to assess the accuracy of EALs on extracted teeth before and after simulation of EARR subsequent to orthodontic treatment. MATERIALS AND METHODS: Standard access cavities were prepared on 64 single-rooted teeth. After working length (CWL) determination, specimens were embedded in an alginate mass, connected to two EALs (Apit, Osada, Tokyo, Japan; Root ZX, Morita Corp., Tokyo, Japan) and the electronic working length (EWL) was measured. The apical portion of the specimens was then modified to simulate EARR, and the EWL was determined again. The discrepancy between CWL and EWL was regarded as statistical unit. Collected data underwent statistical analysis by means of non-parametric tests (p < 0.05). RESULTS: Within a range of ± 0.5 and ± 1.0 mm from CWL, the accuracies were 79.7% and 98.4% (Apit/intact tooth); 82.8% and 96.9% (Apit/simulated EARR); 81.3% and 98.4% (Root ZX/intact tooth); 76.6% and 96.9% (Root ZX/simulated EARR). No statistically significant differences in relation to device or apical condition emerged (p > 0.05). CONCLUSION: The two considered EALs showed similar accuracy, which was not affected by the EARR simulation. The use of EALs in the treatment of teeth with EARR following orthodontic treatment may be useful.

Is gingival crevicular fluid volume sensitive to orthodontic tooth movement? A systematic review of split-mouth longitudinal studies.

To assess the scientific evidence for detectable volume changes of gingival crevicular fluid (GCF) incident to orthodontic tooth movement (OTM). A literature survey of longitudinal split-mouth studies was performed searching PubMed, SCOPUS and the Cochrane Library, with the last access in 15 April 2012. After selection, 13 articles qualified for the final analysis. One study was judged to be of medium/high quality, six were of medium quality and the rest of low quality. Across all studies, there was very little or no statistically significant change in GCF volume incident to OTM. The changes seen were generally ascribed to the clinical or subclinical inflammation consequent to placement of the fixed orthodontic appliance. A reappraisal of the data provided in these studies was performed by comparing the GCF volume from the test (moved) and control (non-moved) teeth, in terms of effects-size (ES) coefficients and variations, as percentages. Generally, the ES coefficients and the variations were below 1.0 and 20%, respectively. Therefore, when using current methods to collect and measure GCF volume, there was no meaningful diagnostic potential for the GCF volume as an index of tissue remodelling incident to OTM. The GCF volume is not a reliable index for tissue remodelling incident to OTM.

Early functional treatment in Class II division 1 subjects with mandibular retrognathia using Fränkel II appliance. A prospective controlled study.

AIM: This was to clarify dentoalveolar, skeletal and facial profile modifications induced by Fränkel II functional treatment in Class II division 1 subjects in prepubertal stages CS1-2. MATERIALS AND METHODS: Evaluation of 25 caucasian subjects (15 males, 10 females), mean age 8y 11m, in vertebral stages CS1-2. The mean duration of functional treatment was 1y 11m. STUDY DESIGN: Prospective controlled study. The sample was evaluated at T0, start of treatment, and T1, end of Fränkel II therapy. Untreated subjects in Class II division 1 were the control group. STATISTICS: T-test for paired data was calculated before and after treatment (P< 0.05). RESULTS: A statistically significant increase between T0 and T1 was obtained for SNB (p = 0.022), ANB (p <0.001), Mx/Mn differential (p = 0.001), Co-Go-Me (p = 0.014), OJ (p < 0.001), OB (p = 0.042), IMPA (p = 0.021) . OJ (p < 0.001) and OB (p = 0.003) showed a higher significant change in the Fränkel group compared to control group. CONCLUSION: The Fränkel II appliance produced, in CS1-2 subiects, significant effects in teeth position, skeletal modifications and soft tissue changes, although the pubertal growth spurt would occur at least two years later.

Incidence and distribution of deciduous molar ankylosis, a longitudinal study.

AIM: To study incidence and distribution of deciduous molar ankylosis. MATERIALS AND METHODS: study design: longitudinal retrospective study. A total of 512 consecutive subjects (aged 5 to 15 years) were examined at the Orthodontics and Paediatric Dentistry Department of the Genoa University School of Dentistry; for each subject an ortopantomography x-ray was taken. RESULTS: Thirty-four children were affected by deciduous molars ankylosis (6.6%). A statistically significant difference was revealed between the distributions: the lower deciduous molars were ankylosed more frequently than the upper ones (P < 0.001); the second deciduous molars were ankylosed more frequently than the first molars (P < 0.001). No statistical significance was found between sex and number of infraoccluded teeth (P = 0.74). CONCLUSION: This study found an incidence of deciduous molar ankylosis of about 6.6%; the lower deciduous molars and second deciduous molars were ankylosed more frequently (P < 0.001).

The occurrence of cytotoxic Aeromonas hydrophila strains in Italian mineral and thermal waters.

Bacteria of the genus Aeromonas are ubiquitous in aquatic environments, including mineral drinking and thermal waters. Motile species are related to different diseases, mostly gastrointestinal disorders. Criteria for Aeromonas pathogenicity in humans and animals are still unclear and neither is the relationship between production virulence and pathogenicity factors. In the present study, strains of Aeromonas hydrophila, from 61 samples of bottled mineral waters and 23 thermal Italian sources have been isolated and identified by biochemical tests, for toxicity and detection of the aerolysin gene by the Polymerase Chain Reaction (PCR). Six strains were isolated from the mineral waters and were found to be cytotoxic and in possession of the aerolysin gene. For the twelve strains isolated from thermal waters, seven were cytotoxic and eleven contained the aerolysin gene.

Apolipoprotein A-I reverse transcriptase-polymerase chain reaction analysis for detection of hematogenous colon cancer dissemination.

Detection of systemic tumor dissemination in colon carcinoma patients might be important for selection of appropriate treatment modalities. It has been previously shown that Apolipoprotein A-I (Apo A-I) is expressed in human intestinal epithelial cells, and in some human colon carcinoma cell lines. We examined the expression of Apo A-I mRNA in 14 human primary colon carcinomas by Northern blot and/or reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. An Apo A-I specific transcript was found in up to 70% of the colon carcinomas. We developed an RT-PCR assay for Apo A-I transcripts, to identify circulating carcinoma cells in the peripheral blood of colon cancer patients. The Apo A-I RT-PCR assay was optimized using limiting dilution of an Apo A-I positive cancer cell line mixed with peripheral blood from healthy donor. In this system, up to 10 colon carcinoma cells were detected in 5 ml of peripheral blood. We examined Apo A-I mRNA expression in peripheral blood samples from 4 healthy donors, 20 colon carcinoma patients, and 11 individuals with tumor disease other than colon cancer. No Apo A-I mRNA was detected in the healthy donors and in the patients without colon cancer. Two out of 10 patients with metastatic colon carcinoma were positive by this assay, whereas Apo A-I mRNA was not found in any of the blood samples from the 10 radically resected colon carcinoma patients. These data suggest that Apo A-I RT-PCR assay is a highly specific and sensitive assay, although a low number of advanced colon carcinoma patients was found to be positive.

Enteric cryptosporidiosis in pediatric HIV infection.

BACKGROUND: Enteric cryptosporidiosis is a frequent problem in adults with human immunodeficiency virus (HIV) infection, but little is known of its features in children. The aim of this study was to investigate the incidence and the clinical features of cryptosporidiosis in HIV-infected children. METHODS: Thirty-five children with symptomatic HIV infection were screened every 2 months, and in case of diarrhea, for the presence of Cryptosporidium. Intestinal function tests were performed, and the fecal osmotic gap was measured in children with cryptosporidiosis. RESULTS: Seventy episodes of diarrhea occurred in 16 children in a median period of 17 months. Cryptosporidium was detected in five cases, all with full-blown acquired immunodeficiency syndrome. Cryptosporidiosis was significantly more protracted than any other form of diarrhea and was associated with dehydration and severe weight loss. Intestinal function was not modified during cryptosporidiosis. Osmotic gap values were consistent with secretory rather than osmotic diarrhea. In four cases, recovery was observed without specific treatment. CONCLUSIONS: Enteric cryptosporidiosis is a severe problem in advanced stages of HIV infection. It does not induce intestinal malabsorption. It induces diarrhea of secretory type. Recovery may be observed independently of therapy.

Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.

We report on two sisters affected by congenital alopecia, nail dystrophy, and a severe T-cell immunodeficiency, presumably inherited as an autosomal-recessive disorder. The T-cell defect was characterized by severe functional impairment, as shown by the lack of proliferative response and upregulation of activation markers following mitogen stimulation. The functional abnormality occurred in spite of the presence of phenotypically mature of the defect. This is the first observation reported on an ectodermal disorder, characterized by alopecia and nail dystrophy, observed at birth, in association with a primary immunodeficiency. The hypothesis that these two events may be casually related is discussed.

Iron deficiency and intestinal malabsorption in HIV disease.

Children with human immunodeficiency virus (HIV) infection have a higher prevalence of intestinal malabsorption. Anemia is also a common feature in these children. The aims of this work were (a) to establish the prevalence of iron deficiency in HIV-infected children, (b) to test the hypothesis that iron deficiency is related to intestinal malabsorption, (c) to see whether it may contribute to anemia, and (d) to evaluate the sensitivity of oral iron load in the investigation of intestinal function. To accomplish these goals, 71 HIV-infected symptomatic children were enrolled. Iron serum values were determined before and after oral load with ferrous sulfate. The correlation between basal and post-load iron levels was evaluated by linear regression. Xylose level after oral load, fecal fat, and fecal alpha 1-antitrypsin concentration were also determined. Iron deficiency was detected in 48% of patients, and it was significantly associated with intestinal iron malabsorption. Sugar malabsorption, steatorrhea, and fecal protein loss were detected in 26, 36, and 17% of patients, respectively. Low hemoglobin levels were detected in 66% of patients. The majority of children with iron deficiency also had anemia. Preliminary data showed that oral iron administration was sufficient for raising hemoglobin in children with normal iron absorption, whereas parenteral administration was required in those with iron malabsorption. We conclude that (a) iron deficiency is a major feature of pediatric HIV infection, (b) it is related to intestinal malabsorption, and (c) it contributes to anemia. Finally, oral iron load is a sensitive test for investigating intestinal function.

Treatment of EBV-induced lymphoproliferative disorder with epipodophyllotoxin VP16-213.

A case of haemophagocytic lymphohistiocytosis consistent with X-linked lymphoproliferative disorder is described. Remission was observed after administration of VP-213, a cytotoxic drug generally used to treat histiocytosis. The child is currently in good clinical health.

Plasma myoglobin in the early diagnosis of acute myocardial infarction.

Serum and plasma myoglobin and creatine kinase-MB catalytic activity were analysed in 157 patients admitted within 2 hours of the onset of chest pain (58 were retrospectively recognized as acute myocardial infarction). Serum and plasma values were highly correlated for both myoglobin and creatine kinase-MB. Plasma myoglobin appeared to be more sensitive than creatine kinase-MB for the early diagnosis of acute myocardial infarction; using a cut-off value of 100 micrograms/l, 90% of acute myocardial infarction cases were correctly recognized by plasma myoglobin 6 hours after the onset of chest pain, with a diagnostic specificity of 100% for non-acute myocardial infarction chest pain subjects. Plasma creatine kinase-MB showed a diagnostic sensitivity of 62% and a diagnostic specificity of 95% in the same group of patients. We suggest the inclusion of the plasma myoglobin immunonephelometric assay together with plasma creatine kinase-MB activity analysis in protocols for the early diagnosis of acute myocardial infarction.