Leg Amputation for an Extensive,Severe and Intractable Sickle Cell Anemia Ulcer in a Brazilian Patient

A 35-year-old African Brazilian patient had sickle cell anemia complicated with recurrent vasoocclusive (VOC) crises and refractory painful leg ulcers for 16 years. The ulcers started over both medial malleoli and expanded gradually. The ulcer on the left leg spread from the foot to the knee circumferentially and was refractory to all forms of therapy within the frame work of multi-disciplinary care. The patient agreed to a below the knee amputation of the left leg. He felt much better after the amputation but developed severe neuropathic phantom pain that was well controlled medically. He could differentiate the sickle cell anemia and ulcer pain from the neuropathic pain. About 6 months after the amputation he had dengue fever with fatal outcome. This is the first report of treatment of refractory sickle cell anemia leg ulcer with amputation and probably the first report of a Brazilian patient with sickle cell anemia and dengue fever.     

Perceived stigma reductions following participation in mental health services integrated within community-based HIV primary care

HIV stigma remains a significant challenge for individuals living with HIV disease that can adversely affect overall well-being and patterns of HIV health service engagement. Finding ways to effectively address stigma concerns is, therefore, an important consideration in the clinical management of HIV disease. This study examined changes in perceived stigma in a sample of 48 adults living with HIV disease as an outcome of their participation in a mental health services program integrated with community-based HIV primary care. Participants completed a self-report instrument that provided a multidimensional measure of perceived HIV stigma, including distancing, blaming, and discrimination dimensions. This scale was administered at the baseline mental health service visit and then re-administered at the three-month follow-up point. Study results showed reductions in self-reported perceived HIV stigma over time for the distancing (t = 4.01, p = 0.000, d = 0.43), blaming (t = 2.79, p = 0.008, d = 0.35), and discrimination (t = 2.90, p = 0.006, d = 0.42) dimensions of stigma. These findings suggest that participation in HIV mental health services may have a favorable impact on perceived HIV stigma. Implications of these findings are discussed, including possible mechanisms that might explain the observed results as well as suggested directions for future research in this area. Randomized controlled trials would represent an important next step to investigate the extent to which HIV mental health services can reduce levels of perceived HIV stigma.     

PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes

Maturity-Onset Diabetes of the Young type 4 is a rare form of diabetes mellitus, caused by mutations in the PDX1 gene. However, only a few mutations in this gene have been associated as a cause of monogenic diabetes up to date. It makes difficult to create a clinical manifestation profile of this disease and, consequently, to improve the therapeutic management for these patients. Here we report a normal weight woman, diagnosed with diabetes mellitus at 27 years old, during her first pregnancy. At the time of the recruitment, she was 40 years old and had a body mass index of 23.9 kg/m², glycated hemoglobin level of 9.6%, and fasting plasma glucose (FPG) of 254 mg/dL. She presented no diabetic complications and she was being treated with insulin. She reported a family history of diabetes mellitus characteristic of an autosomal dominant mode of inheritance. Molecular analysis of the PDX1 gene revealed the missense variant c.532G > A (p.(Glu178Lys)) segregating from the patient to her son, reported as diabetic. It was absent in her healthy daughter. The c.532G > A seems to be a rare variant, absent in human variants databases, and among 86 normoglycemic controls. Eight in silico algorithms classified this variant as probably pathogenic. Additionally, analysis of the evolutionary conservation showed the glutamic acid in the position 178 of PDX-1 protein as conserved among several species. Our findings reinforce the importance of screening rare MODY genes among families with suspicion of monogenic diabetes to help better understand the clinical manifestations of this disease.     

Clínicas de anticoagulação,situação actual e perspectivas futuras

There are several modalities to monitor oral anticoagulant therapy, namely: monitoring by a secondary care specialist in the hospital setting; monitoring by the general practitioner/ family doctor in the primary care setting; monitoring by private laboratories of clinical analysis; self-monitoring with point-of-care devices. In Portugal, the most frequent modality is still the hospital monitoring/anticoagulation clinics, although monitoring in the primary care/routine medical care setting has began to be implemented in some areas of the country since five years ago. Anticoagulation clinics are still actually the organizations that optimize better the clinical and laboratorial follow up of the patients anticoagulated with warfarin. In 2011, anticoagulation control quality was evaluated, in the setting of an anticoagulation clinic (Santo António Hospital, Porto Hospital Center) by determining the proportion of INRs within the therapeutic range. The evaluation focused ambulatory patients, during a period of two months, corresponding to 1067 controls from 687 patients (mean age: 69 ± 13 years; 54%, n = 567, female gender). 71% of controls (n = 756) were within the therapeutic range. 27% of controls were outside the therapeutic range, after exclusion of patients with programmed surgery or invasive proceedings. 13.8% of controls were below the therapeutic range and 8.6% (n = 92) of the latter had INR ≤ 1.5. Above therapeutic range were 13.2% (n = 139), from which 4.4% (n = 46) had an INR between 5–8 and 0.3% (n = 4) an INR ≥ 8. The group of primary care Health Centers (Portuguese acronym ACES) of the Baixo Tâmega region conducted, also in 2011, an evaluation of the anticoagulant control quality, by determining the proportion of INRs within the therapeutic range. The results were similar to those found in the anticoagulation clinic of the Hospital de Santo António which shows that the quality of monitoring in the primary care setting can have the same quality of the anticoagulation clinics monitoring. The introduction of the new oral anticoagulants, that don’t require laboratorial monitoring constitutes a challenge. In Portugal, there is no experience yet to respond to the question if, in this new context, the anticoagulation clinics will be fundamental for the registration of patients, the evaluation of the hemorrhagic risk, the clinical follow up or the evaluation of the adherence to therapy.     

Masticatory performance and taste perception in patients submitted to cancer treatment

The aim of this study was to analyse mastication and the sense of taste in 39 patients submitted to cancer treatment in different areas of the body and to compare these variables with those of 44 control individuals within the same age range. The following aspects were assessed: dental status (DMFT); stimulated and non‐stimulated salivary flow; sense of taste (salty, sweet, bitter and sour); and masticatory performance (MP), through the calculation of X₅₀. Logistic regression models were established to test the association between the independent variables and cancer treatment. Cancer patients had lesser stimulated salivary flow, a smaller number of teeth and occlusal units, worse MP, higher salty, sweet and sour taste scores and a lower bitter taste score (P < 0·05). A significant positive correlation was found between MP and the DMFT index in both groups (P < 0·05), meaning that a lower DMFT index value denoted a smaller X₅₀ value (better masticatory performance). The logistic regression model revealed that patients who had undergone cancer treatment had a greater probability of exhibiting a smaller number of teeth, higher salty and smaller bitter taste scores (P < 0·05). It was concluded that patients who were submitted to cancer treatment presented oral physiology alterations when compared with control subjects at the same age range.     

Epidemiology and Control of Child Toxocariasis in the Western Brazilian Amazon – A Population-Based Study

Toxocara spp. infection and the seroconversion rate in the Amazon have been poorly investigated. This study analyzed individual and household-level risk factors for the presence of IgG antibodies to Toxocara spp. in urban Amazonian children over a period of 7 years and evaluated the seroconversion rates over a 1-year follow-up. In children < 59 months of age, the overall prevalence rate was 28.08% in 2003 and 23.35% in 2010. The 2010–2011 seroconversion rates were 13.90% for children 6–59 months of age and 12.30% for children 84–143 months of age. Multilevel logistic regression analysis identified child age, previous wheezing, and current infection with hookworm as significant associated factors for Toxocara spp. seropositivity in 2003. In 2010, age, previous helminthiasis, and having a dog were associated with seropositivity, whereas having piped water inside the household was a protective factor. Control programs mainly need to target at-risk children, water quality control, and animal deworming strategies.