Le syndrome « ichtyose-prématurité » : deux nouveaux cas

Publication date: Available online 1 August 2018

Source: Annales de Dermatologie et de Vénéréologie

Author(s): M. Severino-Freire, A.-C. Bing Lecointe, E. Bourrat, M. Pichery, N. Jonca, C. Chiaverini, J. Mazereeuw-Hautier

Résumé

Introduction

Le « syndrome ichtyose-prématurité » est très rare ; il appartient au groupe des ichtyoses syndromiques. Il est dû à des mutations du gène FATP4, lequel joue un rôle clé dans le transport et l'activation des acides gras de l'épiderme et dans la fonction barrière cutanée. Malgré une présentation clinique stéréotypée en période néonatale, l'affection est peu connue des cliniciens. Nous en rapportons deux nouveaux cas.

Observations

Cas n^o 1 : il s'agissait d'un enfant de sexe masculin, d'origine française, né de parents non apparentés à 33 semaines de gestation. À la naissance, l'enfant présentait une détresse respiratoire prise en charge en réanimation néonatale. Sur le plan cutané, on notait un aspect de vernix caseosa épais atteignant principalement le cuir chevelu, les sourcils et les quatre membres. L'évolution était favorable, avec un examen cutané normal à 4 ans. Cas n^o 2 : il s'agissait d'un enfant de sexe masculin, d'origine marocaine, né de parents apparentés à 34 semaines de gestation. À la naissance, il présentait une détresse respiratoire aiguë prise en charge en réanimation néonatale. À l'examen clinique, il avait un aspect épaissi de la peau mimant un vernix caseosa, blanchâtre, localisé principalement sur le cuir chevelu, le front, les quatre membres et l'abdomen. L'évolution était favorable, avec un examen cutané normal à 2 ans.

Conclusion

Nos deux patients illustrent la présentation clinique caractéristique de ce syndrome, qui mérite d'être connu des cliniciens pédiatres et dermatologues afin de poser le diagnostic, de réaliser un conseil génétique et de prévoir une prise en charge adaptée de la période périnatale en cas de future grossesse.

Summary

Background

Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation of fatty acids in the epidermis and in epidermal barrier function. Despite stereotypical clinical presentation in the neonatal period, the diagnosis is not well known by clinicians. Herein we report two new cases.

Patients and methods

Case no. 1: a boy born prematurely (33 weeks of gestation) to non-consanguineous French parents presented at birth with respiratory distress necessitating admission to intensive care. His skin was covered by a thick caseous vernix, especially on the scalp, eyebrows and 4 limbs. At the age of 4 years, the boy's skin appeared normal. Case no. 2: a boy born prematurely to consanguineous Moroccan parents (34 weeks of gestation) presented at birth with respiratory distress requiring admission to intensive care. At clinical examination, he had a whitish thick skin giving an impression of vernix caseosa, with involvement of the scalp, forehead, 4 limbs and abdomen. At the age of 2 years, his skin was normal.

Conclusion

The clinical presentation of this syndrome is typical. It is important to make the diagnosis to enable genetic counseling and planning of adequate neonatal care in the event of future pregnancies.

Is there a shortening of the urethral plate in Complete penile disassembly used in epispadias repair and What is its impact on the final outcomes?

Publication date: Available online 2 August 2018

Source: Journal of Plastic, Reconstructive & Aesthetic Surgery

Author(s): Smail Acimi, Debbous Lamia, Mohammed Ali Acimi, Amina Leila Khelil

Abstract

Purpose

To assess the importance of shortening of the urethral plate occurred with complete penile disassembly technique in epispadias repair and its impact on cosmetic and functional results (on urinary incontinency).

Methods

From January 2009 to December 2016, 26 boys underwent complete penile disassembly technique for proximal epispadias repair. Twenty-one patients had epispadias after primary repair of bladder exstrophy and 5 isolated peno-pubic epispadias. The age of the patients ranged from 11 months to 6 years (median 3 years).

Results

After disassembling the penis in three parts, the shortening and narrowing of urethral plate were found in all patients, the shortening varied between 2 and 16 mm. However, in isolated epispadias the urethral plate is easily extensible. The cosmetic results (after dehiscence and fistulas repair) were found satisfying in 24 patients with conical glans and meatus in orthotopic position without any necrosis of the glans. However, 18 patients (81.8 % of cases) who had initially a bladder exstrophy presented a dehiscence or fistula. The urinary continence ≥1 h was observed in 5 patients (19% of cases) and only 3 patients (11.5% of cases) had an urinary continence ≥3 h.

Conclusions

The complete penile disassembly procedure restores the normal anatomy of the penis. Despite the shortening and narrowing of the urethral plate the cosmetic results were good in the majority of patients. However, its functional outcomes on urinary incontinence, particularly for epispadias with bladder extrophy remain uncertain.

Long-term Functional and Aesthetic Evaluation of Using a Single Rhomboid-shaped Fascial Strip for Severe Congenital Unilateral Blepharoptosis

Publication date: Available online 2 August 2018

Source: Journal of Plastic, Reconstructive & Aesthetic Surgery

Author(s): Daisuke Sakahara, Keisuke Imai, Takeshi Masuoka, Hirokazu Shido, Kimiyo Matsumoto, Koji Kawamoto, Songsu Kang, Jumpei Tsumoto

Summary

Purpose

Surgery for congenital blephaloptosis is often performed at about 4-5 years of age. Long-term follow-up is important during facial growth. We performed frontal suspension using a single rhomboid-shaped autogenous fascial strip. We conducted a long-term evaluation of severe congenital unilateral blephaloptosis patients.

Patients and methods

334 patients with congenital blephaloptosis underwent surgery between 1994 and 2006. Of those, 192 patients had unilateral blephaloptosis with levator function less than 3mm. A retrospective analysis were extracted from those patients who could be followed-up postoperatively for at least 10 years, and had accurate clinical photographs available. Evaluation included visual acuity, palpebral fissure height (PFH) and marginal reflex distance (MRD) on photographs to compare both eyes. PHF and MRD were assessed as ratio. Morphological evaluation was based on patient and family comments. Statistical analysis included the t-test.

Results

Participants comprised 95 patients (63 male, 32 female, 43 left and 52 right). Visual acuity showed improvements. Although postoperative MRD ratio of the affected eye was significantly improved.

No clinically significant bilateral difference in postoperative PFH was seen compared to the unaffected side. The surgical results were 62 excellent, 14 good, 12 fair, 3 poor and 4 others' cases in our criteria. No major complications occurred. Satisfactory result could be seen in 76 of 95 cases.

Conclusion

Based on our evaluation, our surgical procedure appears useful for patients with unilateral congenital ptosis. Moreover, blephaloptosis surgery is useful for improving visual acuity. We report this surgical procedure and discuss the long-term results.

Electrochemical synthesis, photodegradation and antibacterial properties of PEG capped zinc oxide nanoparticles

Publication date: Available online 2 August 2018

Source: Journal of Photochemistry and Photobiology B: Biology

Author(s): Ajay Jose, K.R. Sunaja Devi, Dephan Pinheiro, S. Lakshmi Narayana

Abstract

The effect of surfactant and dopant on the properties of zinc oxide nanoparticles were studied by preparing polyethylene glycol (PEG) capped ZnO and tungsten doped PEG capped ZnO nanoparticles via the electrochemical method. These nanoparticles were characterized using X-Ray Diffraction (XRD), Fourier Transform Infrared Spectroscopy (FTIR), Ultraviolet Diffuse Reflection Spectroscopy (UV-DRS), Scanning Electron Microscopy (SEM) and Electron Dispersive Analysis of X Rays (EDAX). The photocatalytic degradation of malachite green dye using these nanoparticles was studied under visible light. The effects of various reaction parameters like dye concentration, catalyst concentration, pH and time were studied to optimize the photodegradation reaction. Reusability of these nanoparticles was studied and no significant change was observed in the degradation efficiency of PEG capped ZnO till the fourth cycle, while there was a gradual decrease in the degradation efficiency of tungsten doped PEG capped ZnO. Langmuir- Hinshelwood kinetic model well describes the photodegradation capacity and the degradation of malachite green follows pseudo-first order kinetics.Photocatalytic studies reveal that PEG capping increases the degradation properties of ZnO while tungsten doping decreases the extent of PEG capping and has a detrimental effect on the degradation properties of ZnO. The prepared nanoparticles exhibit significant antibacterial properties against gram-positive Bacillus cereus and gram-negative Escherichia coli bacterial strains by agar well diffusion method.

Graphical Abstract

Magnetic nanotechnological devices as efficient tools to improve the quality of water: analysis on a real case

Abstract

Magnetic nanoparticles (MNPs), based on iron oxide (magnetite) and ferrogel of gelatin and MNPs, were employed as efficient tools for the removal of heavy metals and nutrients from water samples from Bahia Blanca estuarine (BBE). An exhaustive adsorption performance of Cu, NO₃⁻, and NO₂⁻ was conducted in batch using model solutions aiming to adjust the adsorption conditions. Adsorption studies using water simulating the real samples were also performed. Both kinds of nanomaterials demonstrated an efficiency between 60 and 80%, and 85% for the removal of heavy metals and NO₃⁻ and NO₂⁻, respectively. Similar adsorption assays were performed using BBE water samples, employing the experimental conditions explored with model and simulated water. The reached efficiency was 30 and 45% for heavy metal and nutrient removal, respectively, using nanoparticles; meanwhile, ferrogels displayed a removal capacity around 50–60%. The nanoparticles showed structural instability by the leaching of iron to the medium after the adsorption processes. Ferrogels remained almost inalterable in terms of their integrity during the adsorption time. These materials showed satisfactory perspectives regarding their reuse possibilities. They were used for almost five repeated cycles of adsorption without losing efficiency on the adsorption. The results of this study suggest that MNPs and FGs appear as versatile and promising materials that may be considered as valid alternatives to the actual tools for the remediation of real water samples.

Phosphate affects adsorption and desorption of oxytetracycline in the seawater-sediment systems

Abstract

The fate and transport of antibiotics in the aquatic environment are usually influenced by the combined effects of environmental factors. In this study, batch-type experiments were conducted to investigate the combined effects of phosphate and salinity on oxytetracycline (OTC) adsorption on, and desorption from, two marine sediments. Pseudo-second-order kinetic model fitted the kinetic data better than pseudo-first-order model. The pseudo-second-order kinetic rate (k₂) of OTC increased significantly with increasing phosphate concentrations. Sorption isotherms of OTC can be well described by both the Langmuir and Freundlich models. Compared with the control experiments (without phosphate addition), Freundlich distribution coefficients (K_F) after addition of 50 mg L⁻¹ phosphate decreased from 24.9 to 17.9 L kg⁻¹ on sediments collected from Laizhou Bay, and from 52.2 to 31.3 L kg⁻¹ on sediments collected from Bohai Bay, which indicated that phosphate could inhibit adsorption of OTC on marine sediments. Furthermore, phosphate had a stronger inhibitory effect on OTC adsorption at low salinity level than at high salinity level. The effects of phosphate on OTC adsorption can be explained by ion exchange, change of sediment surface charge, and electrostatic repulsion mechanisms. Desorption experiments showed that phosphate can enhance the total desorption percentage of OTC from marine sediments. Overall, the presence of phosphate in marine system may enhance OTC's long-term transport.

Mathematical simulation to improve municipal solid waste leachate management: a closed landfill case

Abstract

This article presents an example of the application of simulation tools to estimate the post-closure evolution of leachate in a non-hazardous waste landfill. The objective of this work is to predict the behavior of leachate after the closure of the landfill for use as basic information with which to design the leachate management strategy in the following years. The MODUELO 4.0 mathematical landfill simulation software package was used for this purpose. The results of the simulation show that the concentrations in the leachate increase during the post-closure period, from values close to 2200 mg/L of COD and 1500 mg/L of NH₄⁺ at the time of landfill closure to 3200 mg/L of COD and 5300 mg/L of NH₄⁺ 20 years later. This increase is mainly due to the reduction in the flows, from 105 to 17 m³/day on average, since the surface lining was installed. Consequently, pollutant fluxes decrease to values below 100 kg/day in both COD and NH₄⁺ 3 months after closure. This evolution indicates that the management of this leachate will be simpler in the future, especially if it is co-treated with urban wastewater, as its contribution decreases. On the other hand, external water connections to the leachate collectors may cause a relevant increase in the volume of the global landfill effluent. Controlling runoff management and underground infiltrations could lead to important savings in leachate treatment during the aftercare phase.

Mucocutaneous leishmaniasis in a patient with rheumatoid arthritis treated with adalimumab

Introduction: Human leishmaniasis is an infection caused by flagellated protozoa of the genus Leishmania. They are obligate intracellular parasites that selectively infect dendritic cells and macrophages. Development of cutaneous, mucocutaneous, or visceral disease depends on the Leishmania species involved and on the immune response of the host. Tumor necrosis factor alpha (TNF-α) cytokine has been implicated in macrophage activation and tissue granuloma formation, two activities linked to control of intracellular infection caused by Leishmania spp.

Motivations to use, and to stop use of, tanning beds among sexual-minority men: A qualitative study

Background: Sexual-minority men, defined as gay, bisexual, and other men who have sex with men, are more likely than heterosexual men to report using tanning beds in the past 12 months. Furthermore, self-reported lifetime prevalence of melanoma is twice as high among sexual minority men compared with heterosexual men. A recent study of 14–35-year-old sexual-minority men in San Diego, California, assessed motivations to, and not to, indoor tan using an online survey methodology. Motivations to indoor tan in that study included appearance reasons, sociocultural pressures, and affect regulation.

Secukinumab demonstrates high sustained efficacy and a favorable safety profile through five years of treatment in moderate-to-severe psoriasis

Background: Secukinumab, a fully human monoclonal antibody that neutralizes IL-17A, has been shown to have significant efficacy in the treatment of moderate to severe psoriasis and psoriatic arthritis, demonstrating sustained high levels of efficacy with a favorable safety profile. Here we report secukinumab's long-term sustainability and safety through 5 years of continuous treatment at the approved dose.

The link between psoriasis, psoriatic arthritis, and the onset of diabetes

Background: Psoriasis currently affects >125 million people in the world. Approximately, 30% of patients with psoriasis will develop psoriatic arthritis and are also at a higher risk of developing diabetes. The aim of this project was to determine whether patients with psoriasis and diabetes are at a higher risk for developing psoriatic arthritis than those who do not have diabetes.

6143—Botulinum toxin type A treatment for Raynaud’s phenomenon: Experience and 3-year follow-up

Introduction: Raynaud's phenomenon consists of vasospastic disease of the digital arteries after exposure to cold or stress and may appear in isolation or in the context of a systemic disease. When severe, it causes an important reduction in a patient's quality of life. The available treatments do not always offer good results, making it necessary to look for therapeutic alternatives.

Pigmented fungiform papillae of the tongue: An incidental finding in a patient with mycosis fungoides

A 28-year-old Hispanic man with a history of stage IA mycosis fungoides presented with "new dark spots on the tongue." He was not taking any medications and had never been prescribed minocycline. He also denied pain, pruritus, and systemic symptoms. His skin disease had been clinically stable for the past five years with home, narrowband UVB phototherapy twice a month. Physical examination of the oral cavity was significant for multiple dark-brown structures on the distal tongue. Dermoscopic evaluation showed several fungiform papillae with pigmented borders in a rose petal pattern.

7124—Direct immunofluorescence and correlates of systemic disease in adult Henoch-Schönlein purpura

Introduction: IgA vasculitis, formerly called Henoch-Schönlein purpura (HSP), is a systemic vasculitis caused by the deposition of IgA in multiple organ systems, commonly leading to renal, gastrointestinal, and joint manifestations. In adults, renal disease is more severe and occurs more often. The primary objective of this study was to characterize clinical and direct immunofluorescence (DIF) findings with systemic disease in adults with HSP.

Subungual melanoma: The attitudes, knowledge, and referral patterns of nail technicians

Background: Subungual melanoma (SM) accounts for 2%-10% of all melanomas and cannot be distinguished from benign conditions such as longitudinal melanonychia by inspection alone. Low ten-year survival in SM has been attributed to delayed diagnosis, thus early detection may improve outcomes. Early specialist referral and dermatoscopy is useful for proper diagnosis and care. A mnemonic to educate the lay population on findings concerning for SM was created in 2000, but dissemination to the public has been poor.

6774—The role of shave biopsy and electrodesiccation in the overall treatment of keratinocyte carcinoma

The mainstay of treatment for nonmelanoma skin cancer (NMSC) remains surgical. Surgical literature shows that biopsy of keratinocyte carcinoma may clear tumors. This prospective study sought to determine the role of biopsy by means of the shave technique and electrodesiccation in the clearance of nonmelanoma skin cancer. Biopsies performed on highly probable skin cancers were performed with the use of the shave technique and treated with electrodesiccation. Suspected cancers were shaved in a manner that encompassed the entire lesion.

Rare presentation of a primary cutaneous well differentiated liposarcoma

A 61-year-old man with a history of malignant melanoma in-situ presented with a 1-year history of a large firm nodule on his back. Physical exam revealed a 3 × 2 cm firm, nontender, mobile nodule on his right back. A punch biopsy was obtained revealing subcuticular adipose tissue with a lobular architecture that contained enlarged, markedly pleomorphic, and hyperchromatic nuclei at the periphery of the fat lobules and was interpreted as a well differentiated liposarcoma. Liposarcomas of the skin are exceedingly rare and represent a diagnosis of exclusion regarding histopathologic mimics, metastases, and direct extensions from deeper tumors.

6349—Cellular mechanism of compulsive behavior in a mouse model of trichotillomania

Introduction and objectives: Dysfunction of the striatum of the brain is implicated in compulsive behavior such as trichotillomania. Sapap3-mutant (Sapap3−/−) mice lack a post-synaptic scaffolding protein linked to trichotillomania in genetic studies and mice exhibit compulsive grooming leading to severe skin wounds. Yet the cellular basis of this compulsive behavior remains unknown.

Ninety-nine percent response rate in 586 radiation treatments for cutaneous T-cell lymphoma

Background: Cutaneous T-cell lymphoma (CTCL) is a skin tropic lymphoid neoplasm. Relapse is very common; particularly for advanced disease for which there is no cure despite an array of treatment modalities. Skin directed radiation therapy is effective for CTCL. This retrospective study was undertaken to assess response rates and toxicity in patients who received skin directed radiation therapy.

7445—Hospital readmissions for skin disease in the United States

Background: Hospital readmissions represent a potentially preventable form of hospitalization; however, hospital readmissions for dermatologic conditions remain poorly characterized.