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Neurofibromatosis Type 1: Exuberant Cutaneous Involvement
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Dorsal Hump Reduction Based on the New Ethmoidal Point Classification: A Clinical and Radiological Study of the Keystone Area in 138 Patients
Get PDFBackground: Hump resection often requires reorganization of the keystone area.
Objectives: The authors sought to describe the importance of the point where the perpendicular plate of ethmoid joins the septal cartilage (SC) and the nasal bones (NB) (Ethmoidal point [E-point]) for hump resection surgical planning.
Methods: Measurements from mid-sagittal slices in nasal computed tomography scans taken in adult Caucasian patients between January 2015 and December 2018 were compared between patients seeking primary rhinoplasty due to a nasal hump and patients not seeking rhinoplasty (control group). Patients with previous nasal surgery or trauma, genetic or congenital facial disorders, and high septal deviation were excluded. The length of overlap between NB and SC was compared between the 2 groups. The location of the E-point in relation to the beginning of the nasal hump in the cephalocaudal direction was documented in the patients seeking rhinoplasty.
Results: The study population included 138 patients, 69 seeking and 69 not seeking rhinoplasty (96 females). The mean age was 32.9 years (range, 18-55 years). The length of overlap between NB and SC was similar between both groups (11.7 ± 3.3 vs 10.8 ± 3.3; P = 0.235). The E-point was located before the beginning of the nasal hump in 97% (67/69) of nasal hump patients, and it could be found a mean distance of 2.3 (±2.3) mm cephalic to the latter.
Conclusions: As a rule, the perpendicular plate of the ethmoid does not contribute to the nasal hump; therefore, only in exceptional cases should this be addressed while performing dorsal reduction.info:eu-repo/semantics/publishedVersio
Liquid‐based cytology specimen preparation in the era of the COVID‐19 pandemic: The experience of a laboratory in a Portuguese central hospital
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Edema insulínico em idade pediátrica – Caso clínico
Get PDFIntroduction: Insulin edema is a rare condition associated with improved glycemic control shortly after diabetes diagnosis or following a period of insulin omission. Clinical findings range from mild edema to severe heart failure and pleural effusion. Diagnosis is clinical and other edema causes should be excluded. Since it is a self-limited condition, there is no need to modify insulin regimen. In more severe cases, diuretic therapy may be required.
Clinical case: A 14-year-old female was brought to the Emergency Department due to weight gain and leg swelling with three days of evolution. She had been diagnosed with type 1 diabetes at the age of nine. The girl had poor metabolic control which led to multiple hospitalizations, the last one occurring the week before with a glycated hemoglobin higher than 15%. In physical examination, lower limb edema and a 7-kg weight gain were noted. No jugular vein distension, hepatomegaly, or other forms of edema were found. The girl was hemodynamically stable, with diuresis within the normal range. Analytical study consisting of hemogram, ionogram (sodium and potassium), and renal and hepatic function was normal. Urine analysis revealed glycosuria and chest x-ray showed no abnormalities. The diagnosis of insulin-induced edema was established and water and saline restriction recommended, with total symptom resolution three weeks later.
Conclusion: Despite rare, clinicians should be aware of this condition, as most cases do not require modifying the insulin regimen.info:eu-repo/semantics/publishedVersio
Early data on long‐term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2‐year update from the open‐label extension of the NEURO‐TTR trial
Get PDFBackground and purpose: Hereditary transthyretin (hATTR) amyloidosis causes progressive polyneuropathy resulting from transthyretin (TTR) amyloid deposition throughout the body, including the peripheral nerves. The efficacy and safety of inotersen, an antisense oligonucleotide inhibitor of TTR protein production, were demonstrated in the pivotal NEURO-TTR study in patients with hATTR polyneuropathy. Here, the long-term efficacy and safety of inotersen are assessed in an ongoing open-label extension (OLE) study.
Methods: Patients who completed NEURO-TTR were eligible to enroll in the OLE (NCT02175004). Efficacy assessments included the modified Neuropathy Impairment Score plus seven neurophysiological tests composite score (mNIS + 7), the Norfolk Quality of Life - Diabetic Neuropathy (Norfolk QOL-DN) questionnaire total score and the Short-Form 36 Health Survey (SF-36) Physical Component Summary (PCS) score. Safety and tolerability were also assessed.
Results: Overall, 97% (135/139) of patients who completed NEURO-TTR enrolled in the OLE. Patients who received inotersen for 39 cumulative months in NEURO-TTR and the OLE continued to show benefit; patients who switched from placebo to inotersen in the OLE demonstrated improvement or stabilization of neurological disease progression by mNIS + 7, Norfolk QOL-DN and SF-36 PCS. No new safety concerns were identified. There was no evidence of increased risk for grade 4 thrombocytopenia or severe renal events with increased duration of inotersen exposure.
Conclusion: Inotersen slowed disease progression and reduced deterioration of quality of life in patients with hATTR polyneuropathy. Early treatment with inotersen resulted in greater long-term disease stabilization than delayed initiation. Routine platelet and renal safety monitoring were effective; no new safety signals were observed.info:eu-repo/semantics/publishedVersio
O rapaz a quem acontecem coisas: caso clínico de uma condição outrora designada “histeria”
Get PDFIntroduction: Although banished from current mental disorders classifications, the condition formerly known as hysteria has clinical manifestations still puzzling to clinicians. Herein is briefly revised the historical concept of hysteria, as well as, psychological mechanisms underlying some of its current derivatives: conversive and dissociative disorders.
Case report: A previously healthy 17-year-old boy presented with sudden onset of total strength loss in the lower limbs. After neurological assessment, the boy was diagnosed with conversion disorder. Two months later he developed trance and possession states requiring hospitalization, and later, dissociative amnesia. Despite psychological distress underlying patient’s symptoms, la belle indifference was also a meaningful issue.
Discussion: This study presents a critical reflection about conversion and dissociative disorders and diagnostic challenges arising from their inconsistent and variable clinical features.
Conclusion: With this case report, the authors intend to raise awareness to the risk of recurring care demand for care that can elicit iatrogenic harm and delayed proper treatment.info:eu-repo/semantics/publishedVersio
Severe Pulmonary Hypertension Management Across Europe (PHAROS): an ERS Clinical Research Collaboration
Get PDFThe overall objective of the PHAROS CRC is to establish a platform for clinical research in pulmonary hypertension, in close collaboration with the ERN-Lung, able to coordinate future collaborative research in Europe https://bit.ly/2Rx2FTlinfo:eu-repo/semantics/publishedVersio
A systematic review on the effects of endometriosis on sexuality and couple's relationship
Get PDFBackground: Endometriosis is likely to affect sexuality and intimate relationships but the effect endometriosis has on partners remains overlooked and the existing studies show conflicting results. The effect of the disease and its treatment on the couple may be pronounced given the absence of an obvious cause or cure, the likelihood of chronic recurring symptoms, and the potential impact on both sex and fertility.
Materials and methods: We followed the PRISMA guidelines to conduct this systematic review, which involved a database search of published available research related to the effects of endometriosis treatment on sexual function, couple's relationship and on the partner published between 2000 and 2020.
Results: The studies considered revealed that women with endometriosis report a significant effect of the disease on sexuality and relationship. Also, most of the published studies suggest that the impact on partners may be profound, affecting many life domains including sex, intimacy and the relationship in general.
Conclusions: Data suggests that male partners should not be overlooked in the treatment of endometriosis and that psychosocial support including sexual and couple therapy might be beneficial.info:eu-repo/semantics/publishedVersio
COVID-19 Chest Computed Tomography to Stratify Severity and Disease Extension by Artificial Neural Network Computer-Aided Diagnosis
Get PDFPurpose: This work aims to develop a computer-aided diagnosis (CAD) to quantify the extent of pulmonary involvement (PI) in COVID-19 as well as the radiological patterns referred to as lung opacities in chest computer tomography (CT). Methods: One hundred thirty subjects with COVID-19 pneumonia who underwent chest CT at hospital admission were retrospectively studied (141 sets of CT scan images). Eighty-eight healthy individuals without radiological evidence of acute lung disease served as controls. Two radiologists selected up to four regions of interest (ROI) per patient (totaling 1,475 ROIs) visually regarded as well-aerated regions (472), ground-glass opacity (GGO, 413), crazy paving and linear opacities (CP/LO, 340), and consolidation (250). After balancing with 250 ROIs for each class, the density quantiles (2.5, 25, 50, 75, and 97.5%) of 1,000 ROIs were used to train (700), validate (150), and test (150 ROIs) an artificial neural network (ANN) classifier (60 neurons in a single-hidden-layer architecture). Pulmonary involvement was defined as the sum of GGO, CP/LO, and consolidation volumes divided by total lung volume (TLV), and the cutoff of normality between controls and COVID-19 patients was determined with a receiver operator characteristic (ROC) curve. The severity of pulmonary involvement in COVID-19 patients was also assessed by calculating Z scores relative to the average volume of parenchymal opacities in controls. Thus, COVID-19 cases were classified as mild (<cutoff of normality), moderate (cutoff of normality ≤ pulmonary involvement < Z score 3), and severe pulmonary involvement (Z score ≥3). Results: Cohen's kappa agreement between CAD and radiologist classification was 81% (79-84%, 95% CI). The ROC curve of PI by the ANN presented a threshold of 21.5%, sensitivity of 0.80, specificity of 0.86, AUC of 0.90, accuracy of 0.82, F score of 0.85, and 0.65 Matthews' correlation coefficient. Accordingly, 77 patients were classified as having severe pulmonary involvement reaching 55 ± 13% of the TLV (Z score related to controls ≥3) and presented significantly higher lung weight, serum C-reactive protein concentration, proportion of hospitalization in intensive care units, instances of mechanical ventilation, and case fatality. Conclusion: The proposed CAD aided in detecting and quantifying the extent of pulmonary involvement, helping to phenotype patients with COVID-19 pneumonia.This research was supported by the Brazilian Council for Scientific and Technological Development (Conselho Nacional de Desenvolvimento Científico e Tecnológico—CNPq, Grant No. 302839/2017-8) and the Rio de Janeiro State Research Supporting Foundation (Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro—FAPERJ, Grant No. E-26/203.001/2018)info:eu-repo/semantics/publishedVersio
Perturbação do comportamento alimentar - um diagnóstico de exclusão
Get PDFIn adolescents with weight loss, diagnoses other than eating disorders should be considered, namely neurological diseases. A 16-year-old girl with an intellectual development disorder was referred to the Adolescent Medicine outpatient clinic from Child Psychiatry with a diagnosis of eating disorder and persistent anemia. Her body mass index was consistently below the fifth percentile and long-lasting eating difficulties were reported since the age of 15. The girl had no other gastrointestinal, articular, or respiratory complaints, neither polyuria, polydipsia, or recurrent fever. Parental divorce and domestic violence were reported. The patient complained of excessive daytime sleepiness, asthenia, intermittent myalgia, and muscular weakness episodes. Phenotypic characteristics and personal medical history led to clinical suspicion of a neuromuscular disease and genetic study confirmed myotonic dystrophy type 1. This case highlights the importance of considering other diagnoses besides eating disorders in adolescents with eating problems. An exhaustive evaluation of personal and family medical history, patient complaints, and detailed physical examination is mandatory.info:eu-repo/semantics/publishedVersio