Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available.

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Initiation and Use of Propranolol for Infantile Hemangioma: Report of a Consensus Conference

Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share various features with lysosomes, but are distinct in function, morphology, and composition. The biogenesis of LROs employs a common machinery, and genetic defects in this machinery can affect all LROs or only an individual LRO, resulting in a variety of clinical features. In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders.

/pdf/disorders-of-lysosome-related-organelle-biogenesis-clinical-4jbnmqhziz.pdf

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Autoantibodies to cellular constituents are the serologic hallmarks of autoimmunity and are frequently seen in systemic autoimmune diseases, including systemic lupus erythematosus (SLE), scleroderma, and polymyositis/dermatomyositis (1). They also are detected in patients with organ-specific autoimmune diseases, such as autoimmune thyroiditis and hepatitis (1), certain infections and neoplasms (2), and in some individuals without diagnosed disease (2, 3). The most common autoantibodies are antinuclear antibodies (ANA), which are traditionally assessed by indirect immunofluorescence and include antibodies to both nuclear and cytoplasmic components (4). The cellular staining patterns and specific autoantibodies detected in those with ANA are clinically useful as they are strongly associated with particular autoimmune diseases, such as the nucleolar staining patterns that are often seen in scleroderma and anti-Sm autoantibodies that are included in SLE classification criteria (1).

A variety of methods have been used to estimate ANA prevalence in selected populations, including blood donors (5, 6), hospital workers (6, 7), healthy volunteers (3, 8), or residents in small areas (9, 10), leading to a wide range of prevalence estimates (from 1.1% to 20%), which are difficult to compare. Factors associated with ANA production are largely unknown with the exception of some reports suggesting higher prevalence of ANA in females (8, 10–13) and older individuals (12, 14–16). A proportion of the ANA-positive population is thought to represent the preclinical stage of autoimmune diseases based on observations that autoantibodies are usually produced prior to clinical manifestations of disease (17). Thus, defining the prevalence and types of ANA, as well as characterizing factors associated with their production, may provide insight into the etiology of autoimmune diseases, which are thought to be increasing in frequency but are more difficult to characterize and study than ANA at the population level (18).

Therefore, we evaluated serum samples from the United States (U.S.) National Health and Nutrition Examination Survey (NHANES) from 1999–2004 to estimate ANA prevalence, cellular patterns and specific autoantibody reactivities, and to identify sociodemographic and biobehavioral factors associated with their production. We specifically assessed selected systemic autoimmune disease risk factors including smoking (19) and alcohol use (20). We also evaluated C-reactive protein (21) and obesity, the former being a marker and the latter an underlying cause of chronic inflammation (22) and a growing public health concern.

/pdf/prevalence-and-sociodemographic-correlates-of-antinuclear-31hvga0dfl.pdf

Prevalence and Sociodemographic Correlates of Antinuclear Antibodies In the United States

Objective To identify features of antinuclear antibody (ANA)-HEp-2 test results that discriminate ANA-positive healthy individuals and patients with autoimmune rheumatic diseases (ARDs). Methods We sequentially retrieved data on 918 healthy individuals and 153 patients with ARDs after clinical assessment. ANA-positive healthy individuals for whom data were available were reevaluated after 3.6-5.0 years. An ANA-HEp-2 test result was considered positive when a clear ANA pattern was observed at 1:80 dilution in 2 distinct commercial HEp-2 slides by 2 blinded independent observers. Results ANAs were present in 118 healthy individuals (12.9%) and 138 patients with ARDs (90.2%). The ANA titer was higher in patients with ARDs than in healthy individuals (P Conclusion Our findings suggest that the titer, and especially the pattern, on the ANA-HEp-2 test strongly enhances our ability to discriminate ANA-positive healthy individuals and patients with ARDs.

https://onlinelibrary.wiley.com/doi/pdf/10.1002/art.30084

Pattern on the antinuclear antibody–HEp-2 test is a critical parameter for discriminating antinuclear antibody–positive healthy individuals and patients with autoimmune rheumatic diseases

Some complement deficiencies predispose to systemic lupus erythematosus (SLE) early in life Currently, there are no known unique physiologic or genetic pathways that can explain the variability in disease phenotypes Children present with more acute illness and have more frequent renal, hematologic, and central nervous system involvement compared to adults with SLE Almost all children require corticosteroids during the course of their disease; many are treated with immunosuppressive drugs Mortality rates remain higher with pediatric SLE Children and adolescents accrue more damage, especially in the renal, ocular and musculoskeletal organ systems Conversely, cardiovascular mortality is more prevalent in adults with SLE

/pdf/pediatric-lupus-are-there-differences-in-presentation-4u2w9ran9k.pdf

Pediatric Lupus—Are There Differences in Presentation, Genetics, Response to Therapy, and Damage Accrual Compared with Adult Lupus?

OBJECTIVE:To examine the presence of serum antinuclear autoantibodies in a healthy population. METHODS: Serum of 500 normal blood donors between 18 and 60 years of age were tested for the presence of autoantibodies. Antinuclear antibodies were detected by indirect immunofluorescence technique using HEp-2 epithelial cells as the substrate. The presence of dnaN was detected by indirect immunofluorescence technique using Critidia lucillae as the substrate. Anti-SSA (RO), anti-SSB (LA), anti-Sm, and anti-RNP were determined by double radial immunodiffusion. RESULTS: In the evaluation of the presence of serum antibodies, antinuclear antibodies were detected in 22.6% of the sera. The presence of other antibodies was not significant. The majority of the titers were 1:40. CONCLUSION: The presence of autoantibodies is not necessarily pathologic and has to be related to the age group, gender, and clinical condition of the patient.

/pdf/prevalence-of-antinuclear-autoantibodies-in-the-serum-of-4cp50tbkuu.pdf

Prevalence of antinuclear autoantibodies in the serum of normal blood dornors.

Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.

Tuberous sclerosis complex: review based on new diagnostic criteria.

Background Cutaneous tuberculosis has re-emerged in the last 15 years together with the higher incidence of pulmonary tuberculosis and multidrug resistance. The choice for a single diagnostic tool among the many available today is a challenge. Our objective was to compare polymerase chain reaction (PCR) with other exams in the diagnosis of cutaneous tuberculosis and atypical mycobacteria skin infection. Methods PCR and a set of five different exams were performed in 32 patients (34 samples of paraffin-embedded tissue) evaluated for 3 years in a university hospital, considering the response to mycobacterial infection treatment as a positive case. Results PCR was the most sensitive (88%) and specific (83%) exam. Culture, immunohistochemistry and acid-fast bacilli were not in agreement with clinical response to treatment. Conclusions Although PCR is a useful tool, careful clinical exam is still the gold standard for the evaluation and treatment of cutaneous tuberculosis and mycobacteria skin infection.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-4632.2009.03807.x

Polymerase chain reaction compared to other laboratory findings and to clinical evaluation in the diagnosis of cutaneous tuberculosis and atypical mycobacteria skin infection

Immunofluorescence is a valuable auxiliary diagnostic tool for autoimmune bullous diseases and inflammatory disorders, since their clinical and histopathologic findings may be inconclusive. It is a feasible laboratory method that requires experienced technicians and detects in situ and circulating immune deposits that may be involved in the pathogenesis of such skin diseases.

Imunofluorescência direta e indireta

Neonatal skin suffers a progressive adaptation to the extrauterine environment and special care is needed during this period. This skin is very sensitive, thin and fragile. Immaturity of the epidermal barrier reduces the defense against the excessive proliferation of microbes and makes the skin more vulnerable to trauma and percutaneous drug toxicity. Because of the peculiar characteristics of newborn, infant and children's skin, the use of cosmetic products designed for hygiene and protection requires caution. In order to preserve the integrity of neonatal and child's skin, this article reviewed basic preventive care practices in relation to hygiene, bathing, cleansing agents, topical products and their percutaneous toxicity.

http://www.scielo.br/pdf/abd/v86n1/en_v86n1a14.pdf

Zilda Najjar Prado de Oliveira

Papers

Prevalence of antinuclear autoantibodies in the serum of normal blood dornors.

Tuberous sclerosis complex: review based on new diagnostic criteria.

Polymerase chain reaction compared to other laboratory findings and to clinical evaluation in the diagnosis of cutaneous tuberculosis and atypical mycobacteria skin infection

Imunofluorescência direta e indireta

Children and newborn skin care and prevention