22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity.

Prevalence of radiographic findings in chronic osteomyelitis.

Background: Simple radiography in conjunction with pertinent medical history and a comprehensive physical examination is typically adequate for diagnosing chronic osteomyelitis (CO). However, radiographic manifestations of CO lack specificity; therefore, the concordance among specialists in this regard has not been systematically assessed. This study aimed to compare and evaluate the proficiency of orthopedic surgeons and radiologists in identifying radiographic indicators present in simple radiographs for diagnosing CO.

Natural History of a Disease: Patent Ductus Arteriosus Diagnosed on an Elderly Woman.

Patent ductus arteriosus (PDA) is a rare finding in adults. The ductus arteriosus (DA) is responsible for shunting blood from the pulmonary artery into the aorta bypassing the lungs in fetal life (the placenta is responsible for fetal oxygenated blood). Its closure happens after birth, once fetal circulation transitions to normal postnatal circulation and blood oxygenates in the lungs.

Oncological safety of nipple-sparing mastectomy after neoadjuvant chemotherapy: a systematic review.

Background: the use of nipple-sparing mastectomy (NSM) in local advanced breast cancer after neoadjuvant chemotherapy (NQT) is increasing, despite few studies on the subject. The aim of this systematic review was to determine the safety of NSM after neoadjuvant chemotherapy.

Methods: for this systematic review we searched MEDLINE; Cochrane; Scientific Electronic Library Online (SciELO); Embase and Scopus.

Risk factors for perinatal death in high-risk pregnant women at a tertiary hospital in Curitiba-PR, Brazil: a case-control study.

A case-control study was carried out to estimate risk factors for perinatal mortality in a referral hospital for high-risk pregnancies in Curitiba-PR. Sociodemographic, maternal, pregnancy and concept characteristics data were obtained from the hospital records of 316 cases and 316 controls from 2013 to 2017. A hierarchical multiple logistic regression analysis was performed, remaining in the final model variables with p < 0.

Stress fractures.

Stress fractures (SF) represent 10%-20% of all injuries in sport medicine. An SF occurs when abnormal and repetitive loading is applied on normal bone: The body cannot adapt quickly enough, leading to microdamage and fracture. The etiology is multifactorial with numerous risk factors involved.

New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia.

Phosphorus is one of the most abundant minerals in the human body; it is required to maintain bone integrity and mineralization, in addition to other biological processes. Phosphorus is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D [1,25(OH)D], and fibroblast growth factor 23 (FGF-23) in a complex set of processes that occur in the gut, skeleton, and kidneys. Different molecular mechanisms - overproduction of FGF-23 by tumors responsible for oncogenic osteomalacia, generation of an FGF-23 mutant that is resistant to cleavage by enzymes, and impaired FGF-23 degradation due to a reduction in or loss of the PHEX gene - can lead to FGF-23-stimulating activity and the consequent waste of urinary phosphate and low levels of 1,25(OH)D.

Neural recovery function of the auditory nerve in cochlear implant surgery: Comparison between different regions of the cochlea.

Introduction: Cochlear implants allow measures of neural function, through Neural response telemetry (NRT) and Auditory nerve recovery function (REC). These help in programming the speech processor and understanding the auditory system. However, not many studies have evaluated and compared these in different regions of the cochlea.

Diagnostic, treatment, and follow-up of osteoporosis-position statement of the Latin American Federation of Endocrinology.

Unlabelled: The Latin American Federation of Endocrinology position statement on osteoporosis was developed by endocrinologists from 9 countries. It encompasses the definition, diagnosis, treatment, and follow-up of the disease, the identification of barriers to healthcare, and proposals to improve the disease care in the region.

Introduction: There is a gap in the understanding of osteoporosis in Latin America.

Association between fractures and traditional risk factors for osteoporosis and low bone mineral density in patients with obesity.

Objective: To evaluate the reasons for request of bone mineral density (BMD) evaluation and correlate the BMD results with previous fractures, risk factors for osteoporosis, and clinical characteristics in patients with obesity.

Methods: Cross-sectional, retrospective, single-site study including adult patients with body mass index (BMI) ≥ 30 kg/m and BMD evaluation between January 2015 and May 2016 selected from a BMD database. Data on demographic characteristics, lifestyle habits, comorbidities, medications, risk factors, previous fractures, and indications for BMD evaluation were collected from the participants' medical records.

Consensus on the standard terminology used in the nutrition care of adult patients with chronic kidney disease.

This nutrition consensus document is the first to coordinate the efforts of three professional organizations - the Brazilian Association of Nutrition (Asbran), the Brazilian Society of Nephrology (SBN), and the Brazilian Society of Parenteral and Enteral Nutrition (Braspen/SBNPE) - to select terminology and international standardized tools used in nutrition care. Its purpose is to improve the training delivered to nutritionists working with adult patients with chronic kidney disease (CKD). Eleven questions were developed concerning patient screening, care, and nutrition outcome management.

Somatosensory evoked potentials in Hirayama disease: A Brazilian study.

Background: Hirayama's disease (HD) is characterized by an insidious onset asymmetric weakness and atrophy of the forearm and hand. Taking as a premise, the etiopathogenesis of the disease is attributed to forward displacement of posterior wall of lower cervical dural canal in neck flexion causing marked compression and flattening of lower spinal cord. This may result in compression of the posterior column of the spinal cord and seems likely to result in somatosensory evoked potentials (SSEPs) abnormalities.

Regular (ICSI) versus ultra-high magnification (IMSI) sperm selection for assisted reproduction.

Background: Subfertility is a condition found in up to 15% of couples of reproductive age. Gamete micromanipulation, such as intracytoplasmic sperm injection (ICSI), is very useful for treating couples with compromised sperm parameters. An alternative method of sperm selection has been described; the spermatozoa are selected under high magnification (over 6000x) and used for ICSI.

Agile Scrum Methodology: implementation by the nurse in an educational game on safe medication management.

Objective: To demonstrate the role of nurses as project managers in the planning and development phases of an educational game about safe medication management for nursing technicians.

Method: Case report of the experience in the use of the Agile Scrum Methodology with the objective of creating an educational game in the fortnightly sessions of the participating group, between December 2015 and December 2018, in a university hospital in Curitiba.

Results: The nurse's abilities to lead the group using the Scrum Methodology were demonstrated in an effective way, which led to the achievement of the objectives.

Majocchi granuloma on a child's face.

Majocchi granuloma (MG) is a rare dermal and subcutaneous fungal infection. We report a rare case of MG on the face of a six-year-old child caused by Trichophyton mentagrophytes after long term use of topical corticosteroids and other inadequate topical medications. He was treated with griseofulvin 25 mg/kg/day for 35 days unsuccessfully and successful treatment was obtained with terbinafine.

Polymyxin B and colistin-the economic burden of nephrotoxicity against multidrug resistant bacteria.

Background: Polymyxin B and colistin are nephrotoxic drugs used in the treatment of carbapenem-resistant Enterobacteriaceae. The aim of this study is to evaluate the burden of costs due to polymyxin associated AKI and propose a simulated break-even price for new therapies.

Methods: The pharmacoeconomic model is based on two large cross-sectional studies of polymyxin nephrotoxicity.

Canakinumab in patients with systemic juvenile idiopathic arthritis and active systemic features: results from the 5-year long-term extension of the phase III pivotal trials.

Objectives: To evaluate the long-term efficacy and safety of canakinumab in patients with active systemic juvenile idiopathic arthritis (JIA).

Methods: Patients (2-19 years) entered two phase III studies and continued in the long-term extension (LTE) study. Efficacy assessments were performed every 3 months, including adapted JIA American College of Rheumatology (aJIA-ACR) criteria, Juvenile Arthritis Disease Activity Score (JADAS) and ACR clinical remission on medication criteria (CR).