Hypophosphatemic osteomalacia: a report of five cases and evaluation of bone markers

In this study, we analyzed the changes in biochemical markers of bone turnover in five patients with hypophosphatemic osteomalacia. The following bone markers were evaluated: among bone formation markers, total alkaline phosphatase (TAP), bone alkaline phosphatase (BAP), osteocalcin (bone Gla protein, BGP) and procollagen type I N propeptide (PINP); among bone resorption markers, serum C-terminal cross-linked telopeptide of type I collagen (s-CTx), urinary hydroxyproline (HYP), and N-terminal and and C-terminal cross-linked telopeptides of collagen (NTx and - and -CTx). In addition, the /-CTx ratio was evaluated. TAP and BAP were the markers with the highest increase in both frequency and magnitude. Conversely, BGP values were low in all patients. Collagen-related markers were slightly increased in nearly half of the patients. Among them, PINP showed the highest proportion of increased values. The /-CTx ratio was within normal values in all patients. In conclusion, TAP and BAP seem to be the best bone markers in the diagnostic evaluation of hypophosphatemic osteomalacia. In addition, their high values associated with low levels of BGP provide an even more reliable biochemical profile of this disorder, when associated with the classic mineral and skeletal homeostasis abnormalities.     

Sodium retention in cirrhotic rats is associated with increased renal abundance of sodium transporter proteins

BACKGROUND: Liver cirrhosis with ascites is associated with a decrease in renal sodium excretion and therefore sodium retention. METHODS: In this paper, we utilize transporter-specific antibodies to address the hypothesis that dysregulation of one or more sodium transporters or channels is associated with sodium chloride (NaCl) retention in a rat model of cirrhosis induced by repeated exposure to carbon tetrachloride. Age-matched controls and cirrhotic rats were pair fed to ensure identical NaCl and water intake for 4 days prior to euthanasia for quantitative immunoblotting studies. RESULTS AND CONCLUSION: The rats manifested marked extracellular fluid volume expansion with massive ascites. Plasma aldosterone levels were markedly elevated. Analysis of immunoblots revealed marked increases in the abundances of both of the major aldosterone-sensitive apical transport proteins of the renal tubule, namely the thiazide-sensitive NaCl cotransporter NCC and the epithelial sodium channel alpha subunit (alpha-ENaC). These results are consistent with an important role for hyperaldosteronism in the pathogenesis of sodium retention and ascites formation in cirrhosis. In addition, we observed a large decrease in cortical NHE3 abundance (proximal tubule) and a large increase in NKCC2 abundance (thick ascending limb), potentially shifting premacula densa sodium absorption from proximal tubule to loop of Henle (which powers urinary concentration and dilution).     

Occupation and thyroid cancer risk in Sweden

OBJECTIVE: The objective of this study was to identify occupations and industries with increased incidence of thyroid cancer in Swedish workers. METHOD: Standardized incidence ratios were computed for each job and industry for the period 1971-1989 through record-linkage with the Swedish National Cancer and Death Registers. Age-, period-, geographically adjusted relative risks were calculated using Poisson models. RESULTS: Increased risks were found for teachers, construction carpenters, policemen, and prison/reformatory officials in men, and medical technicians, shop managers, tailors, and shoecutters among women. Industries with risk excess are manufacture of agricultural machinery, manufacture of computing/accessories, and public administration/police among men; and manufacture of prefabricated wooden buildings, electric installation work, and wholesale of live animals/fertilizers/oilseed/grain among women. CONCLUSIONS: Our results corroborate some previously reported increased risks. Further research is needed to assess the influence of specific chemical agents related with some of the highlighted work environments.     

Reconstruction of chest wall defects after resection of large neoplasms: ten-year experience

We review our experience in the treatment of complex large chest-wall defects needing a multidisciplinary approach due to primary or secondary neoplasms. Non-small cell lung cancer with chest-wall invasion cases are excluded. Fifteen patients underwent whole thickness resection of the chest wall due to lesions affecting at least three ribs, sternum, clavicle or thoracic spine and the surrounding soft tissue. Previously operated breast cancer and sarcoma were the most frequent diagnoses. Partial or total sternectomy plus rib resection was performed in 8 patients. Immediate closure of the defects was performed in all cases: 12 with single prosthesis placement and 3 with a rigid one of methylmethacrylate. Coverage was achieved using myocutaneous flaps in most cases and, in one case, using the greater omentum that supported a free split-thickness skin graft. No 30-days mortality was recorded. Three patients had a post-operative complication. Mean hospital stay was 11.7+/-9 days. All cases of primary tumours were alive at the time of review (range: 6-126 months). In conclusion, resection and immediate reconstruction of large chest wall defects can be accomplished without operative mortality and low morbidity whenever close cooperation between plastic and thoracic teams exists.     

Results of Surgery for Toxic Multinodular Goiter

Purpose We analyzed the clinical and histological features of patients operated on for toxic multinodular goiter (TMG) to determine the clinical profile and evaluate the surgical results. Methods We reviewed 672 patients who underwent surgery for multinodular goiter (MG), 112 (17%) of whom had hyperthyroidism, and analyzed the epidemiological, clinical, and surgical variables. Results The patients with TMG tended to be older than those with nontoxic MG, with a greater evolution time of the goiter and a higher rate of positive antithyroid antibodies. In the multivariate analysis, the only feature characteristic of TMG, as opposed to nontoxic MG, was the evolution time. Morbidity was 34%, representative of the fact that that most of the patients were seen before the establishment of our endocrine surgical unit. The hyperthyroid symptoms resolved in all patients, but 4 of 17 patients who underwent partial surgical resection showed signs of relapse within a follow-up period of 98 ± 71 months. Conclusions TMG is characterized by a long evolution time and is most effectively treated by total thyroidectomy, which achieves complete remission from symptoms, without relapse, and is necessary if there is associated carcinoma. However, the incidence of complications may be high if this procedure is not carried out by surgeons with experience in endocrine surgery.     

Could activity in anterior frontal regions predict performance on declarative memory tests?

Few studies have tested the correlation between traditional declarative memory scores and functional brain imaging measures of memory. We examined the predictable capabilities of magnetoencephalography-derived measures, scanned during a high-load encoding-memory task, in the immediate (LM-1) and delayed (LM-2) recall from the Wechsler memory scale. The number of activity sources on the left frontal pole (between 300 and 600 ms) predicted scores in LM-1 and LM-2. Collapsing the activity in the left frontal pole and the orbitofrontal cortex increased the goodness of the solution for the LM-2 scores. The fact that rostral-frontal measures achieved significant values highlights the importance of executive processes, such as the implementation of memory strategies and top-down control mechanisms, in the performance of high-load memory tasks.     

Period of gestational diabetes mellitus diagnosis and maternal and fetal morbidity

BACKGROUND: The aim of the study was to analyze the association between the period of diagnosis of gestational diabetes mellitus (GDM) and maternal and neonatal outcome. METHODS: In this retrospective study, 1708 offspring (1571 singleton, 119 twins, and 18 triplets) born to women with GDM who attended the Diabetic and Pregnancy Clinic were included. Pregnancies were divided into three groups according to the gestational age at GDM diagnosis. The association of the period of diagnosis with maternal and fetal outcome was assessed adjusting for potentially confounding variables (logistic regression analysis). RESULTS: The period of diagnosis was a predictor in two out of three maternal outcomes (pregnancy-induced hypertension and insulin treatment) and in four out of 12 fetal outcomes (preterm birth, 5-min Apgar <7, perinatal mortality, and hyperbilirubinemia). Whereas pregnancy-induced hypertension was higher in women diagnosed with GDM in the second period, the other outcomes displayed higher occurrences with earlier diagnosis. CONCLUSIONS: Diagnosis of GDM earlier in pregnancy is a predictor of adverse maternal and neonatal outcome.     

Atrial septal defect in adults > or =40 years old: negative impact of low arterial oxygen saturation

BACKGROUND: Although good prognosis and clinical long-term outcome have been commonly reported in minimally symptomatic adult patients with ASD, this information has been based on studies with a relatively small number of adult patients. We studied unoperated patients aged over 40 years to define the patterns of presentation, anatomical characteristics, outcome and predictive factors for free-event survival of major cardiovascular and pulmonary events. METHODS AND RESULTS: Two-hundred survivors of atrial septal defect aged over 40-yr attended from 1985 to 1998 were reviewed and followed-up from 1.6 to 22 years. Patients were classified in three groups according to age at entry: Group 1, between 40 and 49; Group 2; 50 and 59; and Group 3, > or =60 years old. The mean age at presentation was 48.8+/-9.2 years, and the most common clinical presentations were arrhythmia and dyspnea (51.4%). There were 37 (18.5%) events: 7 heart failure-related, 5 sudden death, 13 severe pulmonary infections, 5 embolisms, and 4 strokes. According to Cox's regression analysis, predictors of primary end point included age group at presentation (hazard ratio 1.71, 95% confidence limits 1.16 to 2.54), and either pulmonary hypertension (mean pulmonary pressure >35 mmHg; hazard ratio=0.65 (4.6, confidence limits 2.2 to 9.5) or, arterial oxygen saturation <80% (hazard ratio 1.71, 95% confidence limits 1.16 to 2.54). CONCLUSIONS: This study supports that long term outcome of patients aged >40 years with unoperated ASD is importantly determined by the mPAP (>35 mmHg), SaO2% (_80) and the age at diagnosis. Nevertheless we identified an inverse association between the mPAP level and SaO2% (interaction). The event-free survival expectancy may be estimated using the age at diagnosis and either SaO2% or mPAP. This prognostic stratification based on pathophysiological principles, may help in making decisions for therapeutic interventions. SaO2% should always be measured as a part of the initial clinical approach of those patients with atrial septal defect aged over 40 years.