Paulo Morais

Extraction and preconcentration techniques for chromatographic determination of chlorophenols in environmental and food samples

Methods for chlorophenols (CPs) determination (with low limits of detection) that can be applied to real environmental samples (waters, sediments, soils, biological tissues) and food are reviewed. Special emphasis is given to sampling, storage conditions and the application of preconcentration techniques for the determination of CPs using chromatographic methods. Solid phase extraction, solid phase microextraction, stir bar sorptive extraction, liquid phase microextraction, dispersive liquid-liquid microextraction, liquid-liquid-liquid microextraction and purge and trap methods are considered. Methods for microwave and ultrasonic extraction of CPs from solid matrices are also focused.

Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature

Restrictive dermopathy (RD) is a rare, fatal, and genetically heterogeneous laminopathy with a predominant autosomal recessive heredity pattern. The phenotype can be caused by mutations in either LMNA (primary laminopathy) or ZMPSTE24 (secondary laminopathy) genes but mostly by homozygous or compound heterozygous ZMPSTE24 mutations. Clinicopathologic findings are unique, allowing a specific diagnosis in most cases. We describe a premature newborn girl of non-consanguineous parents who presented a rigid, translucent and tightly adherent skin, dysmorphic facies, multiple joint contractures and radiological abnormalities. The overall clinical, radiological, histological, and ultrastructural features were typical of restrictive dermopathy. Molecular genetic analysis revealed a homozygous ZMPSTE24 mutation (c.1085_1086insT). Parents and sister were heterozygous asymptomatic carriers. We conclude that RD is a relatively easy and consistent clinical and pathological diagnosis. Despite recent advances in our understanding of RD, the pathogenetic mechanisms of the disease are not entirely clarified. Recognition of RD and molecular genetic diagnosis are important to define the prognosis of an affected child and for recommending genetic counseling to affected families. However, the outcome for a live born patient in the neonatal period is always fatal.

Angiokeratomas of Fabry successfully treated with intense pulsed light.

Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting from the deficient activity of the enzyme α‐galactosidase A. Angiokeratomas (AKs) are a frequent manifestation of this disease. They usually become apparent during childhood and can cause important cosmetic disability. Current treatment of this feature in the setting of FD has been mainly based on the application of laser systems, namely the argon laser, the variable pulse width 532‐nm Nd:YAG laser, the 578‐nm copper vapor laser and the flashlamp‐pumped pulsed dye laser. We report the case of a 31‐year‐old Caucasian woman with a clinical and molecular (GLA p.R118C) diagnosis of FD, presenting multiple AKs scattered over the buttocks and thighs. She was treated with 10 sessions of intense pulsed light (IPL), with a 4–8‐week interval between them. An almost complete clearance of the lesions was obtained, with no scars or significant complaints. No recurrence occurred during a 12‐month follow‐up period. The IPL source can be considered a suitable, effective and safe treatment modality for these cutaneous lesions that typically affect patients with FD, with no need for local anesthesia and with very satisfactory cosmetic results. To our best knowledge, there are no reports in the literature of Fabrys AKs treated with IPL.

Infliximab in Psoriasis and Psoriatic Arthritis

Psoriasis is a chronic inflammatory disorder of the skin and joints. Although rarely life threatening, psoriasis can significantly impair quality of life (QOL) and cause considerable physical and psychological distress. Between 6 and 42% of patients with psoriasis develop psoriatic arthritis, which is characterized by stiffness, pain, swelling and tenderness of the joints. Nail psoriasis is highly prevalent in both plaque-type psoriasis and psoriatic arthritis and is found in approximately 50% of patients with psoriasis and in 80% of patients with psoriatic arthritis. Infliximab, a chimeric human-murine monoclonal antibody directed against tumour necrosis factor α, is approved in the USA and EU for the treatment of plaque psoriasis and psoriatic arthritis at a recommended dosage of 5 mg/kg administered by intravenous infusion at 0,2 and 6 weeks, then every 8 weeks thereafter. The EXPRESS and EXPRESS II trials demonstrated that infliximab is efficacious as induction and maintenance therapy in the treatment of moderate to severe plaque psoriasis and also improved health-related QOL. Infliximab is also efficacious in the treatment of psoriatic arthritis, as shown in the IMPACT and IMPACT II studies. Infliximab is generally well tolerated, with a similar adverse event profile in both psoriasis and psoriatic arthritis. The use of infliximab in three case reports is presented. The patients are similar to those normally seen by clinicians, and include a male patient with plaque psoriasis and a history of severe psoriatic arthritis who was corticosteroid dependent and in whom other systemic treatments were not effective or were not able to be used. This patient showed a rapid response to infliximab with no skin lesions or arthritis after 7 weeks’ treatment. Infliximab was also safe and effective in the treatment of a female patient with plaque and nail psoriasis and a history of psoriatic arthritis. Importantly, this case report supports the efficacy of infliximab in psoriatic nail disease in the context of severe skin and joint involvement. Case 3 describes a young male patient with moderate plaque-type psoriasis associated with severe nail involvement and early signs of psoriatic arthritis. Treatment with infliximab improved nail psoriasis and appears to be an effective biological treatment for nail psoriasis. Importantly, ultrasound was able to diagnose joint involvement, as seen from the proliferative synovitis in the distal interphalangeal joint and mild enthesitis, despite there being no clinical evidence of psoriatic arthritis. This case report highlights the importance of early screening. If such abnormalities are detected early on in the course of psoriasis, clinicians may be able to predict which patients are more likely to develop psoriatic arthritis, and therefore offer effective and long-term treatment that may reduce the disability and impairment of daily activities that can be associated with psoriatic arthritis.

Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation

We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she presented generalized hyperkeratotic plaques with a cobblestone pattern and a pungent odour, most prominently around flexures, scalp and palmoplantar areas. Clinical, histological and ultrastructural findings confirmed the diagnosis of epidermolytic hyperkeratosis (EHK). Molecular genetic analysis revealed a mutation in the KRT10 gene. Treatment with oral acitretin was attempted but it was discontinued due to hepatic dysfunction and marked desquamation and blistering. EHK is a rare autosomal dominant disorder of keratinization, caused by mutations in either the KRT1 or KRT10 genes. Although palmoplantar keratoderma is typically found in patients with KRT1 mutation, our patient presents EHK with palmoplantar involvement and KRT10 mutation. Moreover, a poor response to systemic retinoids was observed, contrary to what is expected in patients with KRT10 mutation. Even though management is usually unsatisfactory, some patients with this lifelong and serious condition may experience improvement with age.

Nonpigmented fixed drug eruption induced by esomeprazole.

A 56-year-old white woman developed a distinctive skin eruption over her mammary, lumbosacral, and pubic areas 2 weeks after the start of esomeprazole therapy for dyspeptic symptoms. Skin biopsy disclosed a spongiotic dermatitis with predominantly lymphocytic dermal infiltrate. Treatment with a tapering dose of corticosteroid and withdrawal of the suspected drug led to a rapid resolution of the eruption without residual dyschromia. Patch testing with esomeprazole 2% in petrolatum was negative at 48 and 72 hours but became positive on day 6. Oral-controlled provocation test induced the reappearance of the lesions over the mammary areas, confirming the putative involvement of this drug. Therefore, the patient was diagnosed as having a nonpigmented fixed drug eruption associated with esomeprazole. This compound is a proton-pump inhibitor developed as the S-isomer of omeprazole to improve its pharmacokinetic properties. Reports of cutaneous reactions to proton-pump inhibitors are quite common, but reports of such reactions to esomeprazole are rare, which demonstrates the need for higher clinical awareness and knowledge of reactions to these drugs.

Spatial distribution of some trace and major elements in sediments of the Cávado estuary (Esposende, Portugal).

For the first time, the occurrence and spatial distribution of several elements, including some toxic metals, have been investigated in sediments of the estuary of the Cávado River (Esposende, Portugal). The pseudo total concentrations of Al, As, Cd, Co, Cr, Cu, Fe, Mg, Mn, Ni, Pb, Sn, V and Zn in sediments collected at 24 sites covering the tidal part of the estuary were determined. According to the concentrations measured, the Cávado estuary can be considered as non-contaminated. For most of the elements, the concentrations tended to be higher upstream. Only a moderate enrichment in Cr and Ni was detected in a few sites. An important decrease in concentration was observed for the most toxic metals compared to historical data reported in the literature. Several hotspots were identified, but even in those cases the amount of metals stored in the sediments does not represent a toxicological threat to living organisms.

Pentachlorophenol toxicity to a mixture of Microcystis aeruginosa and Chlorella vulgaris cultures

Pentachlorophenol (PCP) is a priority pollutant due to its persistence and high toxicity. For the first time, PCP effects were investigated at laboratory scale on co-cultures of two ubiquitous freshwater phytoplankton species: the cyanobacterium Microcystis aeruginosa and the microalgae Chlorella vulgaris. The cells were exposed to environmental levels of PCP for 10 days in Fraquil culture medium, at nominal concentrations from 0.1 to 10,000 μg L(-1). Growth was assessed by area under growth curve (cell count vs. time). The phytoplankton community structure can be changed as a consequence of a PCP contamination. Low μg L(-1) levels of PCP are advantageous to M. aeruginosa. This is the first report of the promoting effect of PCP on the growth of aquatic cyanobacteria, using mixtures with microalgae. As a result of the direct toxic effects of high PCP concentrations on M. aeruginosa, C. vulgaris cell count increased given that in biological controls M. aeruginosa inhibited the C. vulgaris growth. At 16.7 mg L(-1), PCP already had direct toxic effects also on the microalga. The pH of culture medium tended to decrease with increasing PCP concentrations, which was mostly related to the growth inhibition of cyanobacterium caused by PCP. The PCP concentration was stable in the co-cultures, which differed from what has been observed in monocultures of the same two species. Short-term laboratory assays with two phytoplankton species gives important information on the species interactions, namely possible direct and indirect effects of a toxicant, and must be considered in ecotoxicity studies regarding environmental extrapolations.

Sweet’s syndrome triggered by pneumococcal vaccination

Abstract Sweet’s syndrome is the most frequent category among the neutrophilic dermatosis and is diagnosed by clearly defined criteria. Vaccines are included as potential triggers of this syndrome. Nevertheless, there are few reports unveiling such association. Herein, we describe the case of a patient who developed Sweet’s syndrome after pneumococcal vaccination. To our knowledge, this is the second case of Sweet’s syndrome triggered by pneumococcal vaccine reported, and the first one specifically with the 13-valent conjugate vaccine.

The Importance of Trichoscopy in Clinical Practice

Trichoscopy corresponds to scalp and hair dermoscopy and has been increasingly used as an aid in the diagnosis, follow-up, and prognosis of hair disorders. Herein, we report selected cases harbouring scalp or hair diseases, in whom trichoscopy proved to be a valuable tool in their management. A review of the recent literature on this hot topic was performed comparing the described patterns with our findings in clinically common conditions, as well as in rare hair shaft abnormalities, where trichoscopy may display pathognomonic features. In our view, trichoscopy represents a valuable link between clinical and histological diagnosis. We detailed some trichoscopic patterns, complemented with our original photographs and our insights into nondescribed patterns.