Infantile Cystinosis

Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause of death in children with cystinosis. Specific therapy with cysteamine (cystine -depleting agent) has changed the course of this disease. Instead of being fatal in childhood, it can nowadays be considered a multisystemic adult disorder. The authors report a case of a child diagnosed with Fanconi syndrome at 14 months of age and infantile cystinosis at 19 months of age in whom oral cysteamine treatment led to a good outcome during childhood.

GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra

BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of b-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret. PATIENT: The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports. CONCLUSIONS: T2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of thediagnosis of GM1 gangliosidosis.

The Role of Propranolol in the Treatment of Infantile Hemangioma

INTRODUCTION: Infantile hemangioma (IH) is one of the most common childhood tumors. There are various medical or surgical therapeutic options, all with suboptimal results. Recently, the successful use of propranolol for involution of IH was described. We report the results of a single-center experience with this therapeutic option. OBJECTIVE: To prospectively assess the efficacy and safety of propranolol in children with infantile hemangioma. METHODS: We performed a prospective analysis of clinical data of all patients with IH referred to a pediatric cardiology center for baseline cardiovascular assessment prior to propranolol therapy. Propranolol was given at a starting dose of 1 mg/kg/day and titrated to a target dose of 2-3 mg/kg/day according to clinical response. Efficacy was assessed through a photograph-based severity scoring scale. Safety was assessed by collecting data regarding significant side effects. RESULTS: Starting in 2010, 30 patients (15 female) were referred for propranolol treatment of IH, at a median age of six months (1-63 months). The mean target propranolol dose was 2.8 mg/kg/day, with a mean duration of therapy of 12 months. All patients experienced significant reduction of IH size and volume. There were no side effects. CONCLUSIONS: In our experience propranolol appears to be a useful and safe treatment option for severe or complicated IH, achieving a rapid and significant reduction in their size. No adverse effects were observed, although until larger clinical trials are completed, potential adverse events should be borne in mind and consultation with local specialists is recommended prior to initiating treatment.

Rotavirus genotyping in gastroenteritis cases of an infantile population from Western Brazilian Amazonia

INTRODUCTION: During the period from 2000 to 2002, 79 rotavirus-positive stool samples were collected from children presenting diarrhea in the Western Brazilian Amazon. METHODS: Molecular characterization of the G and P genotypes was performed using RT-PCR and electropherotyping analysis by polyacrylamide gel electrophoresis. RESULTS: A total of 59 samples were confirmed as group A rotavirus. A long electrophoretic profile was exhibited by the G1P[8], G3P[8], and G4P[8] genotypes. The G1P[8] genotype was found in greater proportion. The short electropherotype was exhibited only by G2 genotype strains. CONCLUSIONS: The proportion of the rotavirus genotypes observed was not different from that in other areas of Brazil. This study is the first genotyping of rotavirus in the Western Brazilian Amazon.

Factors associated with a diagnosis of major depression among HIV-infected elderly patients

Introduction Acquired immunodeficiency syndrome (AIDS) is being increasingly reported among the elderly and major depression (MD) may be associated with suboptimal adherence to treatment. Methods Cross-sectional study on factors associated with MD among 72 HIV-infected elderly individuals. Results Twenty (27.7%) patients were found to have MD. The female gender (odds ratio [OR] = 10.65; p = 0.00586), a low CD4 count during the study (OR = 1.005247; p = 0.01539), and current smoking status (OR = 12.89; p = 0.01693) were independently associated with MD. Conclusions Our data underscore the need to attentively search and treat MD among HIV-infected elderly patients.

Prevalence of neurocognitive disorders and depression in a Brazilian HIV population

AbstractINTRODUCTION:Combined antiretroviral therapy has enabled human immunodeficiency virus (HIV) carriers to live longer. This increased life expectancy is associated with the occurrence of degenerative diseases, including HIV-associated neurocognitive disorders (HAND), which are diagnosed via a complex neuropsychological assessment. The International HIV Dementia Scale (IHDS) is a screening instrument validated in Brazil for use in the absence of neuropsychological evaluation. HIV patients are frequently diagnosed with depression. We aimed to determine the prevalence of neurocognitive impairment using the IHDS and depressive disorders using the Hamilton Rating Scale for Depression (HAM-D17), compare the IHDS performance with the performances on the Timed Gait Test (TGT), the Digit Symbol Coding Test (DS) and the Brazilian version of the Scale of Instrumental Activities of Daily Living (IADL), and evaluate the association between the IHDS performance and clinical-demographic variables.METHODS:One hundred fourteen patients were evaluated in a cross-sectional study conducted in a public outpatient clinic for infectious diseases in Marília City, State of São Paulo, Brazil. Data were collected following consultation. Statistical analysis was performed in accordance with the nature and distribution of the data and hypotheses.RESULTS:According to the IHDS, 53.2% of the sampled patients were neuropsychologically impaired. According to the HAM-D17, 26.3% had depressive disorders. There were significant associations between the IHDS and the TGT and DS. Multiple regression analysis indicated that female gender, educational level, and cluster of differentiation 4 (CD4) levels were significantly and independently associated with neurocognitive impairment.CONCLUSIONS:The prevalence of neurocognitive impairment according to the IHDS is high and associated with female gender, education level, and low CD4 levels.

Depression and dementia of cerebrovascular origin

We report the case of a patient who presented various psychiatric syndromes at the time of evaluation - partial complex epileptic seizures, personality change, and severe depression, which eventually progressed to dementia - resulting from multiple cerebral infarctions of probable neuro-angiopathic origin, of unknown etiology. Aspects related to depression following cerebrovascular accidents, as well as how cerebrovascular accidents can result in different disorders depending on the variables, are discussed based on the data from current literature.

Predictors of dropout in a controlled clinical trial of psychotherapy for moderate depression

A significant number of psychotherapy clients remain untreated, and dropping out is one of the main reasons. Still, the literature around this subject is incoherent. The present study explores potential pre-treatment predictors of dropout in a sample of clients who took part in a clinical trial designed to test the efficacy of narrative therapy for major depressive disorder compared to cognitive-behavioral therapy. Logistic regression analysis showed that: (1) treatment assignment did not predict dropout, (2) clients taking psychiatric medication at intake were 80% less likely to drop out from therapy, compared to clients who were not taking medication, and (3) clients presenting anxious comorbidity at intake were 82% less likely to dropout compared to those clients not presenting anxious comorbidity. Results suggest that clinicians should pay attention to depressed clients who are not taking psychiatric medication or have no comorbid anxiety. More research is needed in order to understand this relationship.

Self-narrative reconstruction after dilemma-focused therapy for depression: a comparison of good and poor outcome cases

Objective: The aim of this study is to improve the understanding of self-changes after an intervention for depression focused on implicative dilemmas, a type of cognitive conflict related to identity. As recent research has highlighted the relevance of identity-related dilemmas in clients with depression, we sought to assess the way in which clients resolve such inner conflicts after a tailored dilemma-focused intervention and how this is reflected in the clients’ self-narratives. Method: We used three instruments to observe differences between good (n = 5) and poor (n = 5) outcome cases: (i) the Repertory Grid Technique to track the resolution of dilemmas, (ii) the Change Interview to compile clients’ accounts of changes at posttreatment, and (iii) the Innovative Moments Coding System to examine the emergence of clients’ novelties at the Change Interview. Results: Groups did not differ in terms of the number and relevance of client-identified significantly helpful events. However, between-group differences were found for the resolution of dilemmas and for the proportion of high-level innovative moment (IM) types. Furthermore, a greater self-narrative reconstruction was associated with higher levels of symptom improvement. Conclusions: Good outcome cases seem to be associated with the resolution of conflicts and high-level IMs.

Narrative innovations predict symptom improvement: Studying innovative moments in narrative therapy of depression

Objective:Innovative moments (IMs) are moments in the therapeutic dialog that constitute exceptions toward the client's problems. These narrative markers of meaning transformation are associated with change in different models of therapy and diverse diagnoses. Our goal is to test if IMs precede symptoms change, or, on the contrary, are a mere consequence of symptomatic 15 change. Method: For this purpose, IMs and symptomatology (Outcome Questionnaire-10.2) were assessed at every session in a sample of 10 cases of narrative therapy for depression. Hierarchical linear modeling was conducted to explore whether (i) IMs in a given session predict patients' symptoms in the following session and/or (ii) symptoms in a given session predict IMs in the next session. Results: Results suggested that IMs are better predictors of symptoms than the reverse. Conclusions: These results are discussed considering the contribution of meanings and narrative processes' changes to symptomatic improvement.

Exploring female mice interstrain differences relevant for models of depression

Depression is an extremely heterogeneous disorder. Diverse molecular mechanisms have been suggested to underlie its etiology. To understand the molecular mechanisms responsible for this complex disorder, researchers have been using animal models extensively, namely mice from various genetic backgrounds and harboring distinct genetic modifications. The use of numerous mouse models has contributed to enrich our knowledge on depression. However, accumulating data also revealed that the intrinsic characteristics of each mouse strain might influence the experimental outcomes, which may justify some conflicting evidence reported in the literature. To further understand the impact of the genetic background, we performed a multimodal comparative study encompassing the most relevant parameters commonly addressed in depression, in three of the most widely used mouse strains: Balb/c, C57BL/6, and CD-1. Moreover, female mice were selected for this study taken into account the higher prevalence of depression in women and the fewer animal studies using this gender. Our results show that Balb/c mice have a more pronounced anxious-like behavior than CD-1 and C57BL/6 mice, whereas C57BL/6 animals present the strongest depressive-like trait. Furthermore, C57BL/6 mice display the highest rate of proliferating cells and brain-derived neurotrophic factor (Bdnf) expression levels in the hippocampus, while hippocampal dentate granular neurons of Balb/c mice show smaller dendritic lengths and fewer ramifications. Of notice, the expression levels of inducible nitric oxide synthase (iNos) predict 39.5% of the depressive-like behavior index, which suggests a key role of hippocampal iNOS in depression. Overall, this study reveals important interstrain differences in several behavioral dimensions and molecular and cellular parameters that should be considered when preparing and analyzing experiments addressing depression using mouse models. It further contributes to the literature by revealing the predictive value of hippocampal iNos expression levels in depressive-like behavior, irrespectively of the mouse strain.

Postpartum depression in Recife - Brazil: prevalence and association with bio-socio-demographic factors

OBJECTIVE:To use a semi-structured interview to detect depression in postpartum women according to the criteria proposed by the DSM in child health care clinics in the city of Recife, together with the proper association of this disorder to bio-socio-demographic data. METHODS: The study used a cross-section method and contained a convenience sample of 400 women that were between 2 and 26 weeks of postpartum in child health care clinics. A bio-socio-demographic questionnaire and the Portuguese version of the Structured Clinical Interview for DSM-IV Axis I Disorders were used. RESULTS: Twenty nine of the mothers (7.2%) were diagnosed as suffering from postpartum depression. Women with a past history of psychiatric disorders, a family history of psychiatric disorder and some sort of clinical complication presented a higher prevalence of depression. The same happened to those with a past history of spontaneous abortion, those who had a transpelvic birth and those over 8 weeks of puerperium. CONCLUSION: The rate of postpartum depression in this sample, 7.2%, was lower than that reported by other Brazilian studies. It probably occurred because the other researchers used screening scales to assess this estimate instead of a clinical interview.

Long-term prognosis of geriatric major depression in relation to cognition and white matter integrity: follow up of two cases

INTRODUCTION: The geriatric depression (GD) represents one of the most frequent psychiatric disorders in outpatient services specialized in old-age treatment. OBJECTIVE: The course of two illustrative cases of GD is discussed, highlighting its clinical picture after antidepressant treatment and underlining variables related to disease prognosis, treatment effectiveness and conversion to major cognitive disorders such as vascular dementia (VD). METHODS: The cognitive performance, depressive symptoms, autonomy and brain structural measurements as white matter hyperintensities (WMH) and hippocampal size, and microstructural integrity of WM with diffusion tensor imaging were followed during four years. RESULTS: Case 1, with a severe degree of WMH, was associated with worsening cognition and increasing functional disability. Case 2, with mild WMH, an improvement of cognitive functioning could be seen. CONCLUSIONS: The existence of different subtypes of GD, as presented in this report, points a pathophysiological heterogeneity of GD, and suggests a possible continuum vascular depression (VaDp) and vascular cognitive impairment (VCI).

The impact of depression on survival of Parkinson's disease patients: a five-year study

OBJECTIVE: The aim of this study is to evaluate the survival rate in a cohort of Parkinson's disease patients with and without depression. METHODS: A total of 53 Parkinson's disease subjects were followed up from 2003-2008 and 21 were diagnosed as depressed. Mean time of follow up was 3.8 (SD 95% = 1.5) years for all the sample and there was no significant difference in mean time of follow up between depressed and nondepressed Parkinson's disease patients. Survival curves rates were fitted using the Kaplan-Meier method. In order to compare survival probabilities according to the selected covariables the Log-Rank test was used. Multivariate analysis with Cox regression was performed aiming at estimating the effect of predictive covariables on the survival. RESULTS: The cumulative global survival of this sample was 83% with nine deaths at the end of the study - five in the depressed and four in the nondepressed group, and 55.6% died in the first year of observation, and none died at the fourth and fifth year of follow up. CONCLUSION: Our finding point toward incremental death risk in depressed Parkinson's disease patients.