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American Family Physician Jan 2008Rashes are extremely common in newborns and can be a significant source of parental concern. Although most rashes are transient and benign, some require additional... (Review)
Review
Rashes are extremely common in newborns and can be a significant source of parental concern. Although most rashes are transient and benign, some require additional work-up. Erythema toxicum neonatorum, acne neonatorum, and transient neonatal pustular melanosis are transient vesiculopustular rashes that can be diagnosed clinically based on their distinctive appearances. Infants with unusual presentations or signs of systemic illness should be evaluated for Candida, viral, and bacterial infections. Milia and miliaria result from immaturity of skin structures. Miliaria rubra (also known as heat rash) usually improves after cooling measures are taken. Seborrheic dermatitis is extremely common and should be distinguished from atopic dermatitis. Parental reassurance and observation is usually sufficient, but tar-containing shampoo, topical ketoconazole, or mild topical steroids may be needed to treat severe or persistent cases.
Topics: Exanthema; Humans; Infant, Newborn; Prognosis
PubMed: 18236822
DOI: No ID Found -
Anais Brasileiros de Dermatologia 2022Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome...
Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Skin fragility with bullae, erosions, and milia in areas of trauma characterizes the mechanobullous form of the disease. In the inflammatory form of epidermolysis bullosa acquisita, urticarial inflammatory plaques with tense bullae, similar to bullous pemphigoid, or mucosal lesions can determine permanent scars and loss of functionality in the ocular, oral, esophageal, and urogenital regions. Due to the similarity of the clinical findings of epidermolysis bullosa acquisita with other diseases of the pemphigoid group and with porphyria cutanea tarda, the diagnosis is currently confirmed mainly based on the clinical correlation with histopathological findings (pauci-inflammatory subepidermal cleavage or with a neutrophilic infiltrate) and the demonstration of the presence of anti-collagen VII IgG in situ by direct immunofluorescence, or circulating anti-collagen VII IgG through indirect immunofluorescence and/or ELISA. There is no specific therapy for epidermolysis bullosa acquisita and the response to treatment is variable, usually with complete remission in children and a worse prognosis in adults with mucosal involvement. Systemic corticosteroids and immunomodulators (colchicine and dapsone) are alternatives for the treatment of mild forms of the disease, while severe forms require the use of corticosteroid therapy associated with immunosuppressants, intravenous immunoglobulin, and rituximab.
Topics: Adult; Autoantibodies; Autoimmune Diseases; Blister; Child; Epidermolysis Bullosa Acquisita; Humans; Immunoglobulins, Intravenous; Pemphigoid, Bullous
PubMed: 35701269
DOI: 10.1016/j.abd.2021.09.010 -
European Journal of Paediatric Dentistry Mar 2022Recurrent aphthous stomatitis (RAS) is a painful and common ulcerative form that can pose a diagnostic challenge. In fact, similar oral ulcers can appear secondary to a... (Review)
Review
AIM
Recurrent aphthous stomatitis (RAS) is a painful and common ulcerative form that can pose a diagnostic challenge. In fact, similar oral ulcers can appear secondary to a variety of well-defined pathological conditions. Thus, the purpose of this work was to update the current knowledge about RAS METHODS: A narrative review is presented aiming to clarify the extensive differential diagnosis of RAS and its management.
CONCLUSION
As a first aid in relieving the pain, topical applications of corticosteroids, antibiotics, and analgesics are highly recommended, while systemic therapy of RAS should be used in the case of multiple painful ulcerations compromising the quality of life of the patient. Also, natural anti-inflammatory substances from medicinal herbs, in the form of essential oils and extracts are promising agents in the management of RAS.
Topics: Diagnosis, Differential; Humans; Quality of Life; Stomatitis, Aphthous
PubMed: 35274547
DOI: 10.23804/ejpd.2022.23.01.14 -
Annals of Oncology : Official Journal... Aug 2019Anti-PD1/PD-L1 directed immune checkpoint inhibitors (ICI) are widely used to treat patients with advanced non-small-cell lung cancer (NSCLC). The activity of ICI across...
BACKGROUND
Anti-PD1/PD-L1 directed immune checkpoint inhibitors (ICI) are widely used to treat patients with advanced non-small-cell lung cancer (NSCLC). The activity of ICI across NSCLC harboring oncogenic alterations is poorly characterized. The aim of our study was to address the efficacy of ICI in the context of oncogenic addiction.
PATIENTS AND METHODS
We conducted a retrospective study for patients receiving ICI monotherapy for advanced NSCLC with at least one oncogenic driver alteration. Anonymized data were evaluated for clinicopathologic characteristics and outcomes for ICI therapy: best response (RECIST 1.1), progression-free survival (PFS), and overall survival (OS) from ICI initiation. The primary end point was PFS under ICI. Secondary end points were best response (RECIST 1.1) and OS from ICI initiation.
RESULTS
We studied 551 patients treated in 24 centers from 10 countries. The molecular alterations involved KRAS (n = 271), EGFR (n = 125), BRAF (n = 43), MET (n = 36), HER2 (n = 29), ALK (n = 23), RET (n = 16), ROS1 (n = 7), and multiple drivers (n = 1). Median age was 60 years, gender ratio was 1 : 1, never/former/current smokers were 28%/51%/21%, respectively, and the majority of tumors were adenocarcinoma. The objective response rate by driver alteration was: KRAS = 26%, BRAF = 24%, ROS1 = 17%, MET = 16%, EGFR = 12%, HER2 = 7%, RET = 6%, and ALK = 0%. In the entire cohort, median PFS was 2.8 months, OS 13.3 months, and the best response rate 19%. In a subgroup analysis, median PFS (in months) was 2.1 for EGFR, 3.2 for KRAS, 2.5 for ALK, 3.1 for BRAF, 2.5 for HER2, 2.1 for RET, and 3.4 for MET. In certain subgroups, PFS was positively associated with PD-L1 expression (KRAS, EGFR) and with smoking status (BRAF, HER2).
CONCLUSIONS
: ICI induced regression in some tumors with actionable driver alterations, but clinical activity was lower compared with the KRAS group and the lack of response in the ALK group was notable. Patients with actionable tumor alterations should receive targeted therapies and chemotherapy before considering immunotherapy as a single agent.
Topics: Adult; Aged; Aged, 80 and over; Antineoplastic Agents, Immunological; Antineoplastic Combined Chemotherapy Protocols; B7-H1 Antigen; Biomarkers, Tumor; Carcinoma, Non-Small-Cell Lung; Female; Humans; Lung Neoplasms; Male; Middle Aged; Mutation; Oncogenes; Programmed Cell Death 1 Receptor; Progression-Free Survival; Registries; Response Evaluation Criteria in Solid Tumors; Retrospective Studies
PubMed: 31125062
DOI: 10.1093/annonc/mdz167 -
Neuron Mar 2018To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and...
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesins; Loss of Function Mutation; Male; Middle Aged; Young Adult
PubMed: 29566793
DOI: 10.1016/j.neuron.2018.02.027 -
JAMA Feb 2015Severely injured patients experiencing hemorrhagic shock often require massive transfusion. Earlier transfusion with higher blood product ratios (plasma, platelets, and... (Randomized Controlled Trial)
Randomized Controlled Trial
IMPORTANCE
Severely injured patients experiencing hemorrhagic shock often require massive transfusion. Earlier transfusion with higher blood product ratios (plasma, platelets, and red blood cells), defined as damage control resuscitation, has been associated with improved outcomes; however, there have been no large multicenter clinical trials.
OBJECTIVE
To determine the effectiveness and safety of transfusing patients with severe trauma and major bleeding using plasma, platelets, and red blood cells in a 1:1:1 ratio compared with a 1:1:2 ratio.
DESIGN, SETTING, AND PARTICIPANTS
Pragmatic, phase 3, multisite, randomized clinical trial of 680 severely injured patients who arrived at 1 of 12 level I trauma centers in North America directly from the scene and were predicted to require massive transfusion between August 2012 and December 2013.
INTERVENTIONS
Blood product ratios of 1:1:1 (338 patients) vs 1:1:2 (342 patients) during active resuscitation in addition to all local standard-of-care interventions (uncontrolled).
MAIN OUTCOMES AND MEASURES
Primary outcomes were 24-hour and 30-day all-cause mortality. Prespecified ancillary outcomes included time to hemostasis, blood product volumes transfused, complications, incidence of surgical procedures, and functional status.
RESULTS
No significant differences were detected in mortality at 24 hours (12.7% in 1:1:1 group vs 17.0% in 1:1:2 group; difference, -4.2% [95% CI, -9.6% to 1.1%]; P = .12) or at 30 days (22.4% vs 26.1%, respectively; difference, -3.7% [95% CI, -10.2% to 2.7%]; P = .26). Exsanguination, which was the predominant cause of death within the first 24 hours, was significantly decreased in the 1:1:1 group (9.2% vs 14.6% in 1:1:2 group; difference, -5.4% [95% CI, -10.4% to -0.5%]; P = .03). More patients in the 1:1:1 group achieved hemostasis than in the 1:1:2 group (86% vs 78%, respectively; P = .006). Despite the 1:1:1 group receiving more plasma (median of 7 U vs 5 U, P < .001) and platelets (12 U vs 6 U, P < .001) and similar amounts of red blood cells (9 U) over the first 24 hours, no differences between the 2 groups were found for the 23 prespecified complications, including acute respiratory distress syndrome, multiple organ failure, venous thromboembolism, sepsis, and transfusion-related complications.
CONCLUSIONS AND RELEVANCE
Among patients with severe trauma and major bleeding, early administration of plasma, platelets, and red blood cells in a 1:1:1 ratio compared with a 1:1:2 ratio did not result in significant differences in mortality at 24 hours or at 30 days. However, more patients in the 1:1:1 group achieved hemostasis and fewer experienced death due to exsanguination by 24 hours. Even though there was an increased use of plasma and platelets transfused in the 1:1:1 group, no other safety differences were identified between the 2 groups.
TRIAL REGISTRATION
clinicaltrials.gov Identifier: NCT01545232.
Topics: Blood Component Transfusion; Blood Platelets; Erythrocytes; Exsanguination; Female; Hemostasis; Humans; Male; Plasma; Shock, Hemorrhagic; Wounds and Injuries
PubMed: 25647203
DOI: 10.1001/jama.2015.12 -
Maedica Dec 2021Milia en plaque is an uncommon benign dermatosis. We present a case of a 43-year-old Caucasian man with a five-month history of asymptomatic symmetric lesions on the...
Milia en plaque is an uncommon benign dermatosis. We present a case of a 43-year-old Caucasian man with a five-month history of asymptomatic symmetric lesions on the earlobes that has been previously treated by self-medication with potent topical steroids, emollients, cosmetic procedures, herbal medication and punch-procedure. Based on clinical examination, a diagnosis of milia on earlobes was established and treated with topical steroids. Milia en plaque of the earlobes has yet not been reported. Treatment is not different from other localizations.
PubMed: 35261683
DOI: 10.26574/maedica.2020.16.4.747