Familial hypocalciuric hypercalcemia: a new mutation

Familial hypocalciuric hypercalcemia (FHH) is a cause of hypercalcemia with autosomal dominant pattern of inheritance and high penetrance. In most of the cases it can be shown to be due to an inactivating mutation on the gene coding for the calcium-sensing receptor (CaSR). Heterozygous cases usually do not present symptoms and they are diagnosed as an incidental finding. We report three affected children with an inactivating heterozygous mutation, p.Phe789del, in exon 7 of the calcium-sensing receptor gene (CASR gene), situated in chromosome 3q21 (Ensembl ENSG00000036828), which results in elevated serum calcium, normal o high level of parathyroid hormone (PTH) and reduced urinary excretion with hypocalciuria. It is very important to determine the difference between FHH and primary hyperparathyroidism. Therefore, in a mild to moderate PTH-dependent hypercalcemia we must perform a family study and determine the urinary excretion of calcium. The presence of any other affected family member or reduced urinary calcium excretion is enough to suspect FHH, and this should be confirmed by the mutational analysis of the CASR gene, in order to establish the correct diagnosis, differentiated from primary hyperparathyroidism, to avoid unnecessary investigations or operations.     

Validation and test-retest reliability of Early Trauma Inventory in Spanish postpartum women

The aims were to study the validity and test-retest reliability of the Early Trauma Inventory-Self Report (ETI-SR) and its short-form (ETI-SF), which retrospectively assess different childhood trauma, in a sample of Spanish postpartum women. A total of 227 healthy postpartum women completed the ETI-SR and ETI-SF. The longitudinal, expert, all data procedure was used as the external criterion for the assessment of childhood trauma. The ETI-SR and ETI-SF were also administered to a sample of 102 postpartum depressive women (DSM-IV) and the results were compared with those of the healthy postpartum sample. The area under the curve values of the ETI-SR and ETI-SF were 0.77 (95% confidence interval [CI], 0.71-0.84) and 0.78 (95% CI, 0.72-0.85), the internal consistencies of the 2 scales were 0.79 and 0.72, and the intraclass correlation coefficients were 0.92 (95% CI, 0.80-0.97) and 0.91 (95% CI, 0.78-0.96), all respectively. The ETI-SR and ETI-SF had higher test-retest reliability on all subscales. The ETI-SR and ETI-SF are shown to be valid and reliable instruments for assessing childhood trauma in postpartum women.     

Effects of citalopram treatment on hypothermic and hormonal responses to the 5-HT1A receptor agonist buspirone in patients with major depression and therapeutic response

Serotonin (5-HT) 5-HT1A receptor seems to play an important role in the pathophysiology of major depression and in the mechanism of action of antidepressants. In vivo function of 5-HT1A receptors can be monitored using specific pharmacological challenge tests. The present study aimed at exploring the adaptative 5-HT1A receptor changes in depressed patients before and after 8 week treatment with citalopram. The study population consisted of 30 consecutive outpatients of both sexes aged 18-45 years with major depressive disorders (DSM-IV). Basal score in the Hamilton Rating Scale for Depression (HRSD) was higher than 17. Therapeutic response was defined as a 50% decrease in the HRSD score. The hypothermic and endocrine responses (ACTH, cortisol, and prolactin) induced by the 5-HT1A receptor agonist, buspirone (30 mg p.o.) were measured. After 8 weeks on citalopram, the delta max of hypothermic response elicited by buspirone was markedly decreased (p<0.001). Patients showed a decrease in responses to ACTH (delta max p=0.005; AUC p=0.028) and cortisol (delta max p=0.05). However, the prolactin response increased (delta max p=0.02; AUC p=0.005). There was a significant correlation between the therapeutic effect and reductions of ACTH (r=0.883; p<0.001) and cortisol (r=0.610; p=0.001) responses. Changes induced by citalopram support an alteration of 5-HT1A receptors in major depression. A decrease in the overactivity of the HPA axis may be one factor associated with the response to citalopram.     

Safety and Effectiveness of the Intragastric Balloon for Obesity. A Meta-Analysis

BACKGROUND: Intragastric balloons have been used since 1985 to treat obesity, but an evidence-based systematic review had not been previously performed. The objective of this study is to determine the safety, efficacy, and effectiveness of the most widely used balloon, BioEnterics Intragastric Balloon (BIB), to treat obesity. METHODS: Systematic literature review of Medline, Embase, and other information sources from inception to March 2006. The quality of selected studies was assessed. Meta-analysis of weighted mean difference was made using the inverse variance method. RESULTS: We pooled 15 articles (3,608 patients) to estimate BIBs effectiveness. The estimates for weight lost at balloon removal for BIB were the following: 14.7 kg, 12.2% of initial weight, 5.7 kg/m(2), and 32.1% of excess weight. However, data were scant after balloon removal. Yet, efficacy at balloon removal was estimated with a meta-analysis of two randomized controlled trials (75 patients) that compared balloon versus placebo, indicating the balloon group lost more weight than the placebo group. These differences in weight lost were 6.7 kg, 1.5% of initial weight, 3.2 kg/m(2), and 17.6% of excess weight. Regarding BIB safety, the majority of complications were mild and the early removal rate was 4.2%. CONCLUSION: The use of the BIB, within a multidisciplinary weight management program, is a short-term effective treatment to lose weight, but it is not yet possible to verify its capacity to maintain the weight lost over a long period of time.     

HIV Infection and Geographically Bound Transmission of Drug-Resistant Tuberculosis,Argentina

During 2003–2009, the National Tuberculosis (TB) Laboratory Network in Argentina gave 830 patients a new diagnosis of multidrug-resistant (MDR) TB and 53 a diagnosis of extensively drug- resistant (XDR) TB. HIV co-infection was involved in nearly one third of these cases. Strain genotyping showed that 7 major clusters gathered 56% of patients within restricted geographic areas. The 3 largest clusters corresponded to epidemic MDR TB strains that have been undergoing transmission for >10 years. The indigenous M strain accounted for 29% and 40% of MDR and XDR TB cases, respectively. Drug-resistant TB trends in Argentina are driven by spread of a few strains in hotspots where the rate of HIV infection is high. To curb transmission, the national TB program is focusing stringent interventions in these areas by strengthening infection control in large hospitals and prisons, expediting drug resistance detection, and streamlining information-sharing systems between HIV and TB programs.     

Effect of influenza epidemics on mortality in Santa Fe, Argentina, during 1992-1999]

OBJECTIVES: To define the effect of influenza epidemics on mortality and to establish the best criterion for predicting mortality so as to provide a method for advance warning of the severity of an influenza epidemic. METHODS: The study was carried out in La Capital, a department in Santa Fe province, Argentina, during 1992-1999. In order to fulfill the first objective, a retrospective analysis was performed with mortality data for pneumonia and influenza in persons over 65 years of age, using the auto-regressive integrated moving averages (ARIMA). The latter were used to determine the excess mortality attributable to influenza epidemics. In order to attain the second objective, a regression analysis was performed so as to study the correlation between weekly morbidity from influenza and monthly mortality from pneumonia or influenza in personas over 65. Morbidity was expressed in terms of three summary measures which were derived from the number of cases of influenza that were reported during the first 35 weeks of the year: the sum total of all cases reported weekly, their standard deviation, and the maximum number of cases in any given week. We included in the analysis the type and subtype of influenza. These four parameters (type and subtype of influenza, along with one of the three summary measures) were compared among themselves in terms of their ability to explain the mortality observed during the first eight months of the year. RESULTS: Epidemics occurred during the winters of 1993, 1995, and 1999 and in the spring of 1997. During those seasons, excess deaths were observed in connection with the circulation of a predominant strain of influenza virus, type A (H3N2). There were no epidemics in the winter months of 1994, 1996, and 1998, despite the circulation of this viral strain. During the winters in which influenza virus strains A (H1N1) and B were in circulation (1992 and 1997, respectively) - both are associated with low mortality figures - no excess deaths were detected. CONCLUSIONS: The number of weekly cases of influenza reported during the peak of the winter season is the best criterion for predicting how much excess mortality can be attributed to the epidemic.     

Morbidity in 303 first‐episode bipolar I disorder patients

Baldessarini RJ, Salvatore P, Khalsa H‐MK, Gebre‐Medhin P, Imaz H, González‐Pinto A, Perez J, Cruz N, Maggini C, Tohen M. Morbidity in 303 first‐episode bipolar I disorder patients.
Bipolar Disord 2010: 12: 264–270. © 2010 The Authors.
Journal compilation © 2010 John Wiley & Sons A/S. Objectives: To test the hypotheses that: (i) depressive‐dysthymic‐dysphoric (D‐type) morbidity is more prevalent than manic‐hypomanic‐psychotic (M‐type) morbidity even from first episodes of bipolar I disorder (BPD‐I) and despite treatment; (ii) initial presentations predict later morbidity; (iii) morbidity varies internationally; and (iv) early and later morbidity are similar. Methods: We followed SCID‐based, DSM‐IV BPD‐I patients (n = 303) systematically and prospectively for two years to estimate the percent of weeks in specific morbid states from first lifetime major episodes. Results: Total morbidity accounted for 44% of the first two years, and D‐type exceeded M‐type illnesses by 2.1‐fold (30%/14%) among morbidities ranking: mixed states (major + minor) ≥ dysthymia ≥ mania ≥ major depression > hypomania > psychosis. In 164 cases, morbidities at 0.5–2.5 and 2.5–4.5 years were very similar. Depressive or mixed initial episodes predicted a 3.6‐fold excess of D‐type morbidity, and initial M‐type episodes predicted a 7.1‐fold excess of M‐type morbidity over two years. Morbidity in European (EU) sites was nearly half that in the U.S., and 22% greater overall among men than women. In five comparable studies, illness accounted for 54% of follow‐up time, and the ratio of D/M morbidity averaged 3.0. Conclusions: In accord with four midcourse studies, morbidity from BPD‐I onset, despite treatment by community standards, averaged 44%, was 68% D‐type morbidity, and was strongly predicted by first‐episode polarity. Lower morbidity in EU than U.S. sites may reflect differences in healthcare or social systems.