A blockage monoclonal antibody protocol as an alternative strategy to avoid anti-CD38 interference in immunohematological testing.

Background: As CD38 is expressed on red blood cells (RBCs), the plasma of patients on daratumumab (DARA) reacts with the panel cells of pretransfusion tests, masking underlying alloantibodies. The treatment of RBCs with dithiothreitol (DTT) is the most disseminated method to overcome DARA effect on immunohematological tests, but it hampers the identification of potentially harmful antibodies. Our goal was to validate a new strategy, the blockage monoclonal antibody protocol (BMAP), to mitigate the DARA interference on RBCs using anti-CD38 and antihuman globulin.

Hand-foot syndrome due to hepatitis C therapy.

Introduction: Direct-acting antivirals are new drugs for chronic hepatitis C treatment. They are usually safe and well tolerated, but can sometimes cause serious adverse effects and there is no consensus on how to treat or prevent them. We described a case of hand-foot syndrome due to hepatitis C virus interferon-free therapy.

Inborn-like errors of metabolism are determinants of breast cancer risk, clinical response and survival: a study of human biochemical individuality.

Breast cancer remains a leading cause of morbidity and mortality worldwide yet methods for early detection remain elusive. We describe the discovery and validation of biochemical signatures measured by mass spectrometry, performed upon blood samples from patients and controls that accurately identify (>95%) the presence of clinical breast cancer. Targeted quantitative MS/MS conducted upon 1225 individuals, including patients with breast and other cancers, normal controls as well as individuals with a variety of metabolic disorders provide a biochemical phenotype that accurately identifies the presence of breast cancer and predicts response and survival following the administration of neoadjuvant chemotherapy.

Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer.

RNA sequencing (RNA-seq) detects estrogen receptor alpha gene (ESR1) fusion transcripts in estrogen receptor-positive (ER) breast cancer, but their role in disease pathogenesis remains unclear. We examined multiple ESR1 fusions and found that two, both identified in advanced endocrine treatment-resistant disease, encoded stable and functional fusion proteins. In both examples, ESR1-e6>YAP1 and ESR1-e6>PCDH11X, ESR1 exons 1-6 were fused in frame to C-terminal sequences from the partner gene.

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.

Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic ! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with >35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes.

Airway and parenchyma immune cells in influenza A(H1N1)pdm09 viral and non-viral diffuse alveolar damage.

Background: Diffuse alveolar damage (DAD), which is the histological surrogate for acute respiratory distress syndrome (ARDS), has a multifactorial aetiology. Therefore it is possible that the immunopathology differs among the various presentations of DAD. The aim of this study is to compare lung immunopathology of viral (influenza A(H1N1)pdm09) to non-viral, extrapulmonary aetiologies in autopsy cases with DAD.

Incidence of Skin Tears and Risk Factors: A Systematic Literature Review.

Skin tears are traumatic wounds resulting from friction and shearing forces. Clinical practice strongly indicates that skin tears are a prevalent problem but their incidence is not well established in the literature. This systematic literature review identified and evaluated the available literature on the incidence and risk factors for skin tears in adults and the elderly.

MUNIX: Reproducibility and clinical correlations in Amyotrophic Lateral Sclerosis.

Objective: To study the reproducibility, diagnostic yield to detect denervation, and clinical correlations of the Motor Unit Number Index (MUNIX) in subjects with Amyotrophic Lateral Sclerosis (ALS).

Methods: MUNIX evaluation was performed in three muscles twice on the same day to assess reproducibility. Cut-off values for the MUNIX were based on data from 51 healthy subjects (controls) to evaluate the sensitivity of the technique to detect denervation in 30 subjects with ALS.

Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical.

Non-viral transfer of the growth hormone gene to different muscles of immunodeficient dwarf (lit/scid) mice is under study with the objective of improving phenotypic correction via this particular gene therapy approach. Plasmid DNA was administered into the exposed quadriceps or non-exposed tibialis cranialis muscle of lit/scid mice followed by electroporation, monitoring several growth parameters. In a 6-month bioassay, 50μg DNA were injected three times into the quadriceps muscle of 80-day old mice.

Inferential abilities based on pictorial stimuli in patients with right hemisphere damage: influence of schooling.

Unlabelled: Inferences are mental representations, formed through the interaction between explicit linguistic information and an individual's world knowledge. It is well known that individuals with brain damage in the right hemisphere (RH) often fail on this task and that schooling may be a variable affecting this.

Objective: To compare the effect of schooling on an inference comprehension task based on pictorial stimuli in patients with RH lesion.

Correlation of postural balance and knee muscle strength in the sit-to-stand test among women with and without postmenopausal osteoporosis.

Unlabelled: The task of standing up from a chair forms a part of daily life for all independent individuals. However, this task becomes more difficult with advancing age. Women with postmenopausal osteoporosis presented diminished knee extensor and flexor muscle strength.

Screening of cognitive impairment by general internists using two simple instruments.

Unlabelled: General internists (GIs) tend to overlook cognitive impairment in the elderly. Lack of time to diagnose and/or poor knowledge on how to use screening instruments may be the reasons for this shortcoming.

Objectives: To verify the efficacy of simple instruments in the screening of cognitive impairment in elders.

Judgment in Mild Cognitive Impairment and Alzheimer's disease.

Judgment is the capacity to make decisions after considering available information, contextual factors, possible solutions and probable outcomes. Our aim was to investigate previous research studies regarding assessment of judgment in older adults with different degrees of cognitive impairment. To this end, a search of Pubmed and Lilacs electronic databases for studies published from January 1990 until August 2011 in English, Spanish and Portuguese was carried out.

Differential diagnosis between dementia and psychiatric disorders: Diagnostic criteria and supplementary exams. Recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

In 2005, the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology published recommendations for the diagnosis of Alzheimer's disease These recommendations were updated following a review of evidence retrieved from national and international studies held on PUBMED, SCIELO and LILACS medical databases. The main aims of this review article are as follows: 1) to present the evidence found on Brazilian (LILACS, SCIELO) and International (MEDLINE) databases from articles published up to May 2011, on the differential diagnosis of these psychiatric disorders and dementia, with special focus on Dementia due to Alzheimer's and vascular dementia, including a review of supplementary exams which may facilitate the diagnostic process; and2) to propose recommendations for use by clinicians and researchers involved in diagnosing patients with dementia. Differential diagnosis between dementia and other neuropsychiatric disorders should always include assessments for depression, , and use of psychoactive substances, as well as investigate the use of benzodiazepines, anti-epileptics and pattern of alcohol consumption.

Treatment of vascular dementia. Recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

Scientific Department of Cognitive Neurology and Aging of ABN had a consensus meeting to write recommendations on treatment of vascular dementia, there was no previous issue. This disease has numerous particularities and can be considered a preventable dementia. Prevention treatment is primary care of vascular risk factors or a secondary prevention of factors that could cause recurrence of ischemic or hemorrhagic brain modifications.

Long term results of septal myectomy in the treatment of obstructive hypertrophic cardiomyopathy.

Objective: This study analyzed the clinical and echocardiographic late outcomes of surgical septal myectomy in patients with obstructive hypertrophic cardiomyopathy (OHCM).

Methods: We examined, retrospectively, 34 consecutive adult patients (age 55.7±15.