Pathway to care, treatment and disease burden of pulmonary arterial hypertension: a real-world survey of physicians and patients in Latin America.

Objectives: To investigate clinical characteristics, symptom profile, testing practices, treatment patterns and quality of life (QoL) among patients with pulmonary arterial hypertension (PAH) in Latin America.

Design: Data from the Adelphi Real World PAH Disease Specific Programme, a cross-sectional survey with retrospective data collection.

Setting: University/teaching hospital, regional centres, private practices and government institutions in Argentina, Brazil, Colombia and Mexico.

Allogeneic Hematopoietic Cell Transplantation in Elderly Patients in a Latin American Country: Analysis of 11 Year of Data from the Brazilian Registry SBTMO/CIBMTR.

This study analyzed recent changes in the utilization of allogeneic hematopoietic cell transplantation (HCT) for treatment of acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and myeloproliferative diseases (MPDs) and the survival of HCT recipients ≥60 years of age in Brazil. This retrospective registry study included patients who received a first allogeneic HCT from any donor between 2012 and 2023. Of the 6657 patients, 444 (7%) were 60 years of age or older who received grafts from human leukocyte antigen (HLA)-matched related (42%) or unrelated (20%) donors or HLA-haploidentical donors (32%).

Transarterial embolization of petrosal dural arteriovenous fistula (dAVF): Feasible and successful in the post-Onyx era.

Background: Intracranial dural arteriovenous fistula (dAVF) is a rare arteriovenous malformation with potentially severe complications. This study investigates the efficacy and safety of transarterial embolization (TAE) in treating petrous dAVFs through a retrospective analysis and literature review.

Case Description: A retrospective analysis of six patients with petrous dAVFs treated with TAE was conducted, accompanied by a systematic literature review to evaluate treatment outcomes.

Hip dips technique: Filling lateral depressions with hyaluronic acid of large particles.

Introduction: Hip dips, often referred to as the pronounced trochanteric depression, can be caused by athletic muscular definition or the ageing process. This depression might impact the desirable contour of the buttocks in some female patients.

Patients And Methods: A technique is described for female patients exhibiting moderate to severe degrees of lateral trochanteric depression.

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.

In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis.

Sickle Cell Disease in Brazil: Current Management.

Sickle cell disease (SCD) comprises inherited red blood cell disorders due to a mutation in the β-globin gene (c20A > T, pGlu6Val) and is characterized by the presence of abnormal hemoglobin, hemoglobin S, hemolysis, and vaso-occlusion. This mutation, either in a homozygous configuration or in compound states with other β-globin mutations, leads to polymerization of hemoglobin S in deoxygenated conditions, causing modifications in red blood cell shape, particularly sickling. Vaso-occlusive crisis (VOC) is the hallmark of the disease, but other severe complications may arise from repeated bouts of VOCs.

Not Only but and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma.

Context: Genetic analysis of sporadic medullary thyroid carcinoma (MTC) has revealed somatic variants in , , and occasionally other genes. However, around 20% of patients with sporadic MTC lack a known genetic driver.

Objective: To uncover potential new somatic or germline drivers, we analyze a distinct cohort of patients with sporadic, very early-onset, and aggressive MTC.

LEADERSHIP DEVELOPMENT TRAINING FOR BRAZILIAN ORTHOPEDIC SURGEONS.

Objective: To report on the experience and impressions of the Brazilian orthopedic trauma surgeons attending the Leadership Development Program (LDP) hosted by the Sociedade Brasileira do Trauma Ortopédico (SBTO) in Sao Paulo, Brazil on November 4, 2022.

Methods: Forty-eight orthopedic trauma surgeons from five different regions throughout Brazil were provided a link to complete The Big Five Test, a validated online personality assessment. The questionnaire was available in Portuguese and was intended to provide a background on individual personality traits and their influence on interpersonal interactions.

Specific cognitive and psychological alterations are more strongly linked to increased migraine disability than chronic migraine diagnosis.

Introduction: The efficiency of The International Classification of Headache Disorders (ICHD-3) in reflecting patients' disability has recently been questioned. This prompts consideration that clinical features beyond pain may more accurately indicate the extent of underlying brain impairment than the mere frequency of headache days. Important cognitive dysfunctions and psychological impairment have been reported in burdensome cases of migraine, and the presence of these alterations has been associated with biological changes in the nervous system.

Square technique-A treatment for cellulite with large size particle hyaluronic acid.

Gynoid lipodystrophy, also called cellulite, is defined as a metabolic disorder of the subcutaneous tissue that alters body contour. It is rare in men but affects 80%-90% of adult women.The authors describe a technique for the treatment of cellulite with non-traumatic subcision of septa by cannula associated with large-gel-particle hyaluronic acid (HA).

Brain stimulation for treatment-resistant depression.

Depression is one of the main public health problems in the world, having a high prevalence and being considered the main cause of disability. An important portion of patients does not respond to treatment with the initial trial of conventional antidepressants in the current depressive episode of moderate to severe intensity, which characterizes treatment-resistant depression. In this context, non-invasive neuromodulation procedures use an electric current or magnetic field to modulate the central nervous system, and they represent a new option for patients with treatment-resistant depression.

Misdiagnosis in multiple sclerosis in a Brazilian reference center: Clinical, radiological, laboratory profile and failures in the diagnostic process-Cohort study.

Background: Multiple sclerosis misdiagnosis remains a problem despite the well-validated McDonald 2017. For proper evaluation of errors in the diagnostic process that lead to misdiagnosis, it is adequate to incorporate patients who are already under regular follow-up at reference centers of demyelinating diseases.

Objectives: To evaluate multiple sclerosis misdiagnosis in patients who are on follow-up at a reference center of demyelinating diseases in Brazil.

A century of research on neuromodulation interventions: A scientometric analysis of trends and knowledge maps.

Interest in neurostimulation interventions has significantly grown in recent decades, yet a scientometric analysis objectively mapping scientific knowledge and recent trends remains unpublished. Using relevant keywords, we conducted a search in the Web of Science Core Collection on September 23, 2022, retrieving a total of 47,681 documents with 987,979 references. We identified two prominent research trends: 'noninvasive brain stimulation' and 'invasive brain stimulation.

Novel Insights into the Pathophysiology and Treatment of Sickle Cell Disease.

The polymerization of hemoglobin under deoxygenation is the main pathophysiological event in sickle cell diseases, described more than 70 years ago. The last two decades have seen a major increase in knowledge about the cascade of events that follow the polymerization of hemoglobin and the ensuing sickling of red blood cells. Several distinctive therapeutic targets have been discovered as a result, and a few drugs with innovative mechanisms of action are already on the market, while several others are the focus of ongoing trials.

Transcription factor HNF4α2 promotes osteogenesis and prevents bone abnormalities in mice with renal osteodystrophy.

Renal osteodystrophy (ROD) is a disorder of bone metabolism that affects virtually all patients with chronic kidney disease (CKD) and is associated with adverse clinical outcomes including fractures, cardiovascular events, and death. In this study, we showed that hepatocyte nuclear factor 4α (HNF4α), a transcription factor mostly expressed in the liver, is also expressed in bone, and that osseous HNF4α expression was dramatically reduced in patients and mice with ROD. Osteoblast-specific deletion of Hnf4α resulted in impaired osteogenesis in cells and mice.

Endoscopic ultrasound-guided biliary drainage: a literature review.

Neoplasms of the biliopancreatic confluence may present with obstruction of the bile tract, leading to jaundice, pruritus and cholangitis. In these cases drainage of the bile tract is imperative. Endoscopic retrograde cholangiopancreatography (ERCP) with placement of a choledochal prosthesis is an effective treatment in about 90% of cases, even in experienced hands.

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Background: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry.

Physical activity domains and incident clinical depression: A 4-year follow-up analysis from the ELSA-Brasil cohort.

Aim: To analyze the prospective dose-response relationships between total and domain-specific physical activity (PA) with incident clinical depression.

Methods: We used data from two waves (Wave 1: August/2008-December 2010; Wave 2: September/2012-December/2014) of the Brazilian Longitudinal Health Study (ELSA-Brasil) cohort study. Self-reported PA (total, transport, and leisure-time) was the main exposure.