Los desencadenantes reflejos en la epilepsia mioclónica juvenil / Reflex triggers in juvenile myoclonic epilepsy

Resumen Introducción : La epilepsia mioclónica juvenil (EMJ) es un síndrome epiléptico de inicio en la infancia y ado lescencia con mioclonías, convulsiones tónico-clónicas generalizadas y ausencias. Los estímulos reflejos como la sensibilidad a la luz o fotosensibilidad, la apertura y cierre palpebral y la inducción por praxias producen descargas epileptiformes y crisis. Estos desencadenan tes reflejos no son todos sistemáticamente estudiados. Objetivo : Examinar los rasgos reflejos en pacientes con EMJ. Métodos : Se evaluaron en forma consecutiva 100 adolescentes y adultos con EMJ que recibían diferentes tratamientos anticrisis. Se realizó un electroencefalogra ma standard con un protocolo de estimulación luminosa intermitente (ELI) y otro para la evaluación de las pra xias a través de una actividad neurocognitiva (ANC). El análisis estadístico fue descriptivo y de correlación. Se consideró significativa una p > 0.05. Resultados : La edad actual fue de 28+/-11 (14-67). Las crisis comenzaron a los 15 años +/-3 (Rango 8-25 años). EL 58% presentaron mioclonías y convulsiones tónico clónicas generalizadas. El 50% recibían ácido valproico y el 31% continuaban con crisis. Descargas epileptiformes en reposo 20%; hiperventilación 30%; apertura y cierre palpebral 12%; respuesta fotoparoxística en la ELI 40%; ANC 23%. Mayor porcentaje de descargas y demora en la realización de la ANC en los que presentaban crisis. El ácido valproico comparado con los otros fármacos no demostró superioridad en el control de las crisis. Conclusiones : Estos hallazgos confirman la importan cia del estudio de los rasgos reflejos para el diagnóstico, seguimiento y el control terapéutico.

Abstract Introduction : Juvenile myoclonic epilepsy (JME) is an epileptic syndrome with onset in childhood and adolescence with myoclonus, absences, and generalized tonic-clonic seizures. Reflex stimuli such as sensitivity to light or photosensitivity, eyelid opening and closing, and praxis induction produce epileptiform discharges and seizures. These reflex triggers are not all system atically studied. Objective : Examine reflex features in patients with JME. Methods : One hundred adolescents and adults with JME who received different anti-seizure treatments were evaluated consecutively. A standard electroen cephalogram was performed with an intermittent light stimulation (SLI) protocol and another for the evaluation of praxias through neurocognitive activity (CNA). The statistical analysis was descriptive and of correlation with a p > 0.05. Results : Current age was 28+/-11 (14-67). The seizure began at 15 years +/-3 (Range 8-25 years). They pre sented myoclonus and generalized tonic-clonic seizures in 58%. 50% received valproic acid and 31% continued with seizures. Epileptiform discharges at rest 20%; hy perventilation 30%; eyelid opening and closing 12%; photoparoxysmal response in SLI 40%; CNA 23%. Higher percentage of discharges and delay in performing CNA in those who presented seizures. Valproic acid com pared to other drugs did not demonstrate superiority in seizure control. Conclusions : These findings confirm the importance of studying reflex traits for diagnosis, follow-up, and therapeutic control.

Functional and Hemodynamic Efficacy of Non-Poliferative Diabetic Retinopathy Treatment by Endonasal Electrophoresis of Tanakan

Aims: To study the effectiveness of the treatment of patients with non-proliferative diabetic retinopathy by tanakan endonasal electrophoresis according to functional and hemodynamic data.Study Design: Cross-sectional comparative analysis.Place and Duration of Study: Department of Ophthalmology, clinic of Tashkent Medical Academy, between 2017 and 2020.Methodology: We included 66 patients (123 eyes), 23 men and 43 women; age range 18-75 years with non-proliferative diabetic retinopathy. The patients were divided into 2 groups: to receive daily tablets of Tanakan (control), or daily endonasal electrophoresis of Tanakan (main) within ten days. Before and after the course of therapy, the patients underwent determination of visual acuity, Doppler ultrasound imaging of the eye and computer static perimetry.Results: Improvements in visual acuity were observed in 87,3% of the main group patients, and in 22% of the control group. Statistically significant increase in blood flow velocity and a decrease in the resistance index were observed in the main group (P < 0.05). Retinal photosensitivity increased by 22% in the main group, and by 10% in the control group. The mean deviation from the age norm decreased by 33% in the main group and by 12% in the control group. Among the patients of the main group, 30% experienced a decrease in absolute scotomas and 100% in relative scotomas. Among the patients of the control group, 21% and 83% experienced a decrease in absolute and relative scotomas, respectively.Conclusion: Treatment with tanakan endonasal electrophoresis significantly improved visual acuity, eye hemodynamics, and retinal photosensitivity. This treatment is more effective than the traditional use of ginkgo- biloba tablets.

Electroclinical characteristics and treatment analysis of photosensitive occipital lobe epilepsy in children / 中华实用儿科临床杂志

Objective:To investigate the clinical and electroencephalographic characteristics of photosensitive occipital lobe epilepsy (POLE) in children.Methods:The clinical data, electroencephalogram (EEG), treatment and prognosis of 22 children with POLE in the Department of Pediatrics, Peking University First Hospital from January 2006 to December 2019 were retrospectively analyzed.Results:Among the 22 patients, 12 cases were female and 10 cases were male.There were 3 cases combined with mild mental retardation.Classified by seizure symptoms, only 3 patients complained of subjective symptoms of visual aura, and the common symptoms were eye movement in 11 patients, headache in 3 patients, vomiting in 6 patients and dizziness in 3 patients.All patients had focal seizures during the course of disease.Twenty patients had secondary bilateral tonic-clonic seizures, and 5 patients also had generalized myoclonic seizures.Interictal epileptiform discharges were monitored in EEG of all children, including pure focal discharges in 6 patients, pure generalized discharges in 10 patients, and coexistence of generalized and focal discharges in 6 patients.Photoparoxysmal responses were induced in 19 patients, including pure focal discharges in 4 patients, pure generalized discharges in 6 patients, and coexisting focal and generalized discharges in 9 patients.Photoconvulsive responses were induced in 16 patients, including focal seizures with occipital lobe onset or focal secondary to bilateral tonic-clonic seizures in 15 patients, and myoclonic seizures in 1 patient.Eighteen patients were treated with anti-seizure medications (ASMs) and followed up.The top 3 commonly used drugs were Valproic acid (12 patients), Levetiracetam (8 patients), and Lamotrigine (4 patients), and 13 cases had controlled seizures.Conclusions:The visual aura of POLE is not obvious, and the relationship between epilepticseizures and light stimuli in daily life should be actively inquired to avoid misdiagnosis or underdiagnosis of the syndrome.The EEG of POLE often visualizes the coexistence of focal and generalized discharges, which may be accompanied by generalized seizures.The coexistence phenomenon should be considered when ASMs are medicated during treatment, and odium channel blockers should be selected carefully.

Research progress and directions in photodermatology / 中华皮肤科杂志

As an important subdiscipline of dermatology, photodermatology has developed rapidly in recent years. It is not only theoretical science of photodamage-related dermatoses, but also practical science of treatment of photodamage-related dermatoses. This article introduces the basis of photobiology, the pathogenesis of photodamage-related dermatoses, and research hotspots in sunscreens, and elaborates new progress in the clinical application of targeted phototherapy and home phototherapy, with a view to providing a theoretical basis and practical guidance for the treatment of photodamage-related dermatoses.

Photohardening therapy for idiopathic actinic dermatoses / 中华皮肤科杂志

Photohardening therapy, also known as photodesensitization therapy, refers to the phototherapy and photochemotherapy of idiopathic actinic dermatoses, and its goal is to improve the patients′ tolerance to sunlight and prevent disease flares. Its mechanisms of action involve a variety of cellular and inflammatory factors. This therapy is suitable for all idiopathic actinic dermatoses, with definite efficacy and good safety. However, the treatment specificity usually leads to poor compliance. The development of UVA1 rush hardening and home phototherapy is expected to solve this problem.

Characterisation of serum lipidomic profiles in patients with chronic actinic dermatitis based on liquid chromatography-mass spectrometry / 中华皮肤科杂志

Objective:To investigate serum lipidomic profiles in patients with chronic actinic dermatitis (CAD), and to search for biomarkers of CAD.Methods:A retrospective analysis was conducted. Serum samples were collected from 46 patients with CAD and 16 age- and gender-matched healthy controls in the Guangzhou Institute of Dermatology from April 2011 to December 2021. Changes in serum lipid composition and expression were assessed by liquid chromatography-mass spectrometry. Principal component analysis, partial least squares discriminant analysis, and orthogonal partial least squares discriminant analysis were performed to screen differential biomarkers, and receiver operating characteristic (ROC) curve analysis was conducted to screen diagnostic markers. Comparisons of the age and gender distribution between groups were performed using t test and chi-square test, respectively. Results:The 46 CAD patients were aged from 30 to 84 (60.39 ± 10.52) years, including 41 males and 5 females; the 16 healthy controls were aged from 50 to 89 (59.81 ± 10.72) years, including 14 males and 2 females; there were no significant differences in the age or gender distribution between the two groups (age: t = 0.19, P = 0.853; gender: χ2 = 0.03, P = 0.859). Totally, 4 136 lipid molecules belonging to 40 subclasses were identified in the serum samples from CAD patients as well as healthy controls. Twenty-two differential lipid molecules were identified between the CAD patients and healthy controls, belonging to 9 subclasses (triglycerides, sphingomyelin, phosphatidylserine, phosphatidylethanolamine, monofatty acid glycerides, lysophosphatidylcholine, hexose ceramide, diglycerides, and cardiolipin). When the combinations of triglycerides (37.7e) and Na, those of monoglycerides (22.3) and NH 4, or those of phosphatidylserine (18.0_18.1) and H served as diagnostic markers separately, the areas under the ROC curve (AUCs) were all > 0.8, and the AUCs of 16 differential lipid molecules were all > 0.7. Conclusion:The serum lipid composition differed between healthy controls and CAD patients, and the combinations of triglycerides (37.7e) and Na, those of monoglycerides (22.3) and NH 4, and those of phosphatidylserine (18.0_18.1) and H may be promising biomarkers for the diagnosis of CAD.

Skin photosensitivity induced by Voriconazole in children with ABCB1 rs1045642 T/T genotype: a case report and literature review / 中华实用儿科临床杂志

The clinical data of a child with ABCB1 rs1045642 T/T genotype and skin photosensitivity induced by Voriconazole were analyzed retrospectively in Beijing Children′s Hospital, Capital Medical University in September 2020.Literature was reviewed to discuss the relationship between ABCB1 genetic polymorphism and Voriconazole pharmacokinetics.The patient was a 6.8-year-old boy, who was diagnosed with primary immunodeficiency disease.Long-term oral Voriconazole was administered for prevention and treatment of fungal infections.Skin photodistributed erythema and pigmentation occurred about 3-4 weeks after treatment.The skin lesions were significantly alleviated about 1 month after the withdrawal of Voriconazole.Gene test showed ABCB1 rs1045642 T/T in the patient.Some studies reported that ABCB1 rs1045642 T/T genotype reduced the clearance rate of Voriconazole.Monitoring such adverse reaction of Voriconazole in clinical practice is important. ABCB1 gene polymorphism is possible to correlate with the pharmacokinetics and adverse reactions of Voriconazole.However, further large-scale clinical studies are warranted to verify it.

Prurigo actínico en un centro dermatológico de referencia en Colombia: 108 casos / Actinic prurigo in a dermatological reference center in Colombia: 108 cases

Introducción. El prurigo actínico es una fotodermatosis crónica. Afecta con mayor frecuencia a la población latinoamericana, predomina en mujeres y compromete la piel expuesta al sol, las conjuntivas y los labios. Objetivo. Actualizar la información sobre las características clínico-epidemiológicas y el tratamiento de pacientes con prurigo actínico en Colombia. Materiales y métodos. Se hizo un estudio de corte transversal que incluyó los registros clínicos de pacientes con prurigo actínico atendidos en el Servicio de Fotodermatología del Hospital Universitario Centro Dermatológico Federico Lleras Acosta entre el 2011 y el 2016, y se describieron sus características demográficas, clínicas e histopatológicas, así como su tratamiento. Resultados. Se incluyeron 108 pacientes, el 71,3 % de ellos mujeres y el 28,7% hombres, con predominio de los fototipos III-IV (70 %). La enfermedad se había iniciado durante la primera década de vida en el 66,4% de los casos y el 25 % de los pacientes tenía antecedentes familiares de la enfermedad. Las lesiones predominaban en el rostro (93,5 %), los antebrazos (79,6 %) y el dorso de las manos (70,4 %). También, se documentó compromiso ocular (87,9 %) y de los labios (88,8 %). Se hizo la prueba de fotoprovocación con radiación ultravioleta A en el 25 % de los casos y biopsia cutánea en el 19,4 %. Todos los pacientes se trataron con protección solar química y física. En los casos leves a moderados, se formularon corticoides tópicos (91,7 %) e inhibidores de la calcineurina (65,7 %), y en los graves, talidomida (33,3 %) y pentoxifilina (14,8 %). Conclusión. Las características de los pacientes colombianos con prurigo actínico son similares a las reportadas en otros países latinoamericanos: inicio temprano de la enfermedad, predominio en mujeres, compromiso frecuente de conjuntivas y labios, y adecuada respuesta al tratamiento tópico y sistémico.

Introduction: Actinic prurigo is a chronic photodermatosis. It affects the Latin American population more frequently, predominantly women, and involves the sun-exposed areas of the skin, conjunctiva, and lips. Objective: To update the information on the clinical-epidemiological characteristics and treatment of patients with actinic prurigo in Colombia. Materials and methods: We conducted a cross-sectional study including the medical records of patients with actinic prurigo treated in the Photodermatology Service of Hospital Universitario Centro Dermatológico Federico Lleras Acosta between 2011 and 2016. We described the demographic, clinical, histopathological, and treatment characteristics of the patients. Results: We included 108 patients, 77 (71.3%) were women and 31 (28.7%) men, mainly with phototypes III-IV (70%). The disease had begun during the first decade of life in 66.4% of the cases and 25% of the patients had a family history with the condition. The lesions predominated on the face (93.5%), forearms (79.6%), and back of the hands (70.4%). Ocular (87.9%) and lip (88.8%) involvement was also documented. A photo-provocation test with UVA was performed in 25% of the cases and skin biopsies in 19.4%. Physical and chemical photoprotection was indicated in all patients. Mild to moderate cases were treated with topical corticosteroids (91.7%) and calcineurin inhibitors (65.7%) while severe cases received thalidomide (33.3%) and pentoxifylline (14.8%). Conclusion: The characteristics of actinic prurigo patients in Colombia are similar to those reported in other Latin American countries: early onset of the disease, predominance in women, frequent involvement of conjunctiva and lips, and adequate response to topical and systemic treatment.

Recent advance in Jeavons syndrome / 中华神经医学杂志

Jeavons syndrome is a rare type of childhood onset photosensitive epilepsy syndrome, which is characterized by eyelid myoclonic and absences seizure, photosensitivity, eye closure-induced seizure or eletroencephalographic (EEG) epileptiform discharges. Jeavons syndrome is often underdiagnosed and misdiagnosed. Jeavons syndrome has its unique epileptogenic mechanisms, and theclinical classification is always closely related to its treatments and prognoses. This article reviews the latest development of Jeavons syndrome in order to enhance the understanding of Jeavons syndrome.

The association between post traumatic amnesia and visual photosensitivity in mild traumatic brain injury

Background: Visual symptoms are a common occurrence following mTBI. Among visual symptoms, Visual photosensitivity is a frequent manifestation post mTBI, which can disrupt the normal lifestyle of any individual resulting in social and professional distress. Post traumatic amnesia is one of the markers of severity in mTBI. Authors have studied the association between visual photosensitivity and post traumatic amnesia following mTBI. The aim of this study is to find out the association between Visual Photosensitivity and post traumatic amnesia in patients with mild traumatic brain injury.Methods: Hospital based prospective, analytical, observational study. A total of 300 patients with the diagnosis of mTBI were studied. Diagnosis of mTBI was based on the WHO Operational criteria for clinical identification of mTBI.VLSQ-8 Questionnaire was used in this study to diagnose and monitor the progress of visual photosensitivity in patients with mTBI. The Galveston Orientation and Amnesia Test (GOAT) was applied to assess post traumatic amnesia. The study period was from July 2017 to March 2019. Each patient with mTBI who developed visual photosensitivity was followed up for 1 year after the appearance of their symptoms.Results: Thus the main observations of this study were (i) There is a strong possibility of developing visual photosensitivity among the group of patients who presented with the history of post traumatic amnesia following mild traumatic brain injury (p=0.0008)(ii) if a patient with mild traumatic brain injury suffers from visual photosensitivity, possibility of his/her symptoms persisting beyond 6 months increases significantly if there is history of post traumatic amnesia (p=0.0001).Conclusions: This result will help in providing information regarding prognosis of visual photosensitivity following mild traumatic brain injury.

Incapacitating solar urticaria: successful treatment with omalizumab

Abstract: Solar urticaria is a rare form of physical urticaria mediated by immunoglobulin E. The lesions appear immediately after the sun exposure, interfering with the patient's normal daily life. Omalizumab, a monoclonal anti-IgE antibody, has been recently approved for the treatment of chronic spontaneous urticaria, and the latest reports support its role also in the treatment of solar urticaria. Hereby, we report a case of solar urticaria refractory to conventional treatment strategies, with an excellent response to treatment with omalizumab and phototesting normalization.

Relationship between Drug-Induced Photosensitivity and Ultraviolet-Visible Absorption Spectrum and Structure / 医薬品情報学

Objective: To clarify the background difference between drug-induced photosensitivity and ultraviolet-visible absorption spectrum or structure and to construct useful information for prevention and prediction of drug-induced photosensitivity. Methods: We investigated whether, for 457 drugs for which the ultraviolet-visible absorption spectrum is listed in the Japanese Pharmacopoeia, there were absorption maxima in the UVA (320 nm or more and less than 400 nm), UVB (280 nm or more and less than 320 nm), or UVA and UVB (280 nm or more and less than 400 nm). Structure was investigated for the existence of “conjugated”, carbonyl, sulfone, nitro and fluorine. The case drug group was taken to be those drugs for which photosensitivity was listed as a side effect on the medical drug package insert. Using statistical software, SPSS statistics ® 24 (IBM), we performed univariate logistic regression analysis, and multivariate logistic regression analysis with a stepwise increment method (likelihood ratio) combining items with p＜0.2, and calculated the odds ratio (hereinafter: aOR). The significance level was taken as 0.05. Results: There were 85 drugs in the case drug group, and 372 drugs in the control drug group. As a result of multiple logistic regression analysis, in Model 1, we placed sulfone (aOR: 4.55, 95% C.I.: 2.22-9.35), fluorine (aOR: 3.66, 95% C.I.: 1.82-7.39) and nitro (aOR: 4.46, 95 % C.I.: 1.73-11.48) in this order. In Model 2, we placed sulfone (aOR: 4, 40, 95% C.I.: 2.12-9.15), fluorine (aOR: 3.81, 95% C.I.: 1.87-7.76), UVA (aOR: 2.40, 95% C.I.: 1.37-4.18) and nitro (aOR: 3.61, 95% C.I.: 1.39-9.40) in this order. Conclusion: When a drug is developed, its ultraviolet-visible absorption spectra and structure become clear, and from this information,measures can be taken which bear the potential risk of photosensitivity in mind.

Expression of caspase-14 in skin lesions of patients with chronic actinic dermatitis and effect of ultraviolet B radiation on its mRNA and protein expression in HaCaT cells / 中华皮肤科杂志

Objective To determine the expression of caspase-14 in skin lesions of patients with chronic actinic dermatitis (CAD),and to explore the effect of ultraviolet B (UVB) radiation on its mRNA and protein expression in HaCaT cells.Methods In 2016,skin samples were collected from lesions of 10 patients with CAD (test group),10 patients with eczema (positive control group) and from normal skin of 10 healthy controls after cosmetic surgery (negative control group) in the Department of Dermatology,First Affiliated Hospital of Kunming Medical University.Immunohistochemical staining was performed to determine the expression of caspase-14 in the normal skin,CAD and eczema lesions.Cultured HaCaT cells were divided into several groups:UVB groups irradiated with 0,30,60,90 mJ/cm2 UVB separately,and 5-AzaC groups irradiated with 0,30,60,90 mJ/cm2 UVB separately followed by the treatment with the methylase inhibitor 5-AzaC for 24 hours.Then,the cells were collected,and real-time fluorescence-based quantitative PCR (RT-PCR) and Western blot analysis were conducted to determine the mRNA and protein expression of caspase-14 respectively in HaCaT cells in the UVB groups and 5-AzaC groups.Statistical analysis was carried out with SPSS22.0 software by using chi-square test for the comparison of rates,and t test and two-factor analysis of variance for the comparison of means.Results In the CAD and eczema lesions,caspase-14 was mainly expressed in the spinous and granular layers,but not in the stratum comeum.However,caspase-14 was markedly expressed in the stratum corneum of the normal skin tissues.Of the 10 CAD samples,5 were positive for caspase-14,and 9 of 10 normal skin samples were positive for caspase-14.The positive rate of caspase-14 significantly differed between the two above groups (x2 =7.30,P ＜ 0.05).RT-PCR and Western blot analysis showed significant changes in the mRNA and protein expression of caspase-14 in HaCaT cells after irradiation with different doses of UVB (F =87.54,23.46,both P ＜ 0.05),which showed a decreasing trend along with the increase in the dose of UVB.After exposure to 0,30,60 and 90 mJ/cm2 UVB,the mRNA and protein expression of caspase-14 was significantly higher in the 5-AzaC groups than in the UVB groups (all P ＜ 0.05).Conclusions In CAD lesions,the expression of caspase-14 markedly decreased,and was absent in the stratum corneum.UVB radiation can downregulate the mRNA and protein expression of caspase-14 in HaCaT cells.

Electro-clinical aspects of epilepsy with eye closure sensitivity / 中华神经科杂志

Objective To investigate the electro-clinical features of epilepsy with eye closure sensitivity (ECS).Methods The electroencephalograph database was searched using ECS during half a year period from January to June 2017 in Xijing Hospital.The duration of the follow-up was one year.Results Fifty-one patients diagnosed as epilepsy with ECS were investigated.Patients were classified into four epilepsy syndromes:33 with eyelid myoclonia with absences (EMA);13 with juvenile myoclonia epilepsy (JME);two with epilepsy with generalized tonic-clonic seizure on awakening and three with idiopathic occipital lobe epilepsy (IOE).The duration of the epileptiform discharges (EDs) triggered by eye closure (ECL) lasted more than five seconds in four patients with EMA and one patient with IOE.The EDs triggered by ECL were more frequent (85.2± 11.4 vs 37.5± 12.6,t=12.399,P=0.000) and lasting longer ((4.3± 1.9) s vs (2.3±0.8) s,t=3.585,P=0.001) in EMA than in JME.Conclusions ECS is common in EMA.The frequency and duration of the EDs triggered by ECL are helpful for identifying EMA and JME.

Lupus erythematosus tumidus in childhood treated with antimalarials / Lupus eritematoso tumidus en la infancia tratado con antimalárico

Abstract Lupus erythematosus tumidus is a rare dermatosis. It is considered a subtype of chronic cutaneous lupus erythematosus of uncertain pathogenesis, favorable prognosis and rare association with systemic lupus erythematosus. Clinically, it manifests as urticarial-like plaques in photo exposed areas, mainly affecting adults, being extremely rare in pediatric age. Herein, we present two cases of six and nine-year-old male patients with clinical and histological characteristics typical of lupus erythematosus tumidus and poor response to first-line treatment (topical, intralesional steroids and topical calcineurin inhibitors); therefore, it was decided to start systemic therapy with antimalarials, obtaining a very good response.

Resumen El lupus eritematoso tumidus es una dermatosis poco frecuente. Es considerada una variante del lupus eritematoso cutáneo crónico, de patogénesis incierta, pronóstico favorable y rara asociación con lupus eritematoso sistémico. Clínicamente, se manifiesta como placas de aspecto urticarial en zonas fotoexpuestas, que principalmente afectan a los adultos, siendo extremadamente rara en edad pediátrica. A continuación presentamos dos casos de pacientes de sexo masculino de seis y nueve años, con características clínicas e histológicas típicas de lupus eritematoso tumidus y poca respuesta al tratamiento de primera línea (esteroides tópicos, intralesionales e inhibidores de calcineurina tópica), por lo que se decidió iniciar manejo sistémico con antimalárico, obteniendo muy buena respuesta terapéutica.

Advance of clinical and genetic studies on Cockayne syndrome / 中华实用儿科临床杂志

Cockayne syndrome is a rare autosomal recessive disorder with multisystem degenerative disorders caused by DNA repair defect. The patients usually presented with developmental delay,failure to thrive,premature aging,cutaneous photosensitivity and microcephaly. The phenotype was a continuous spectrum,with severity from severe to mild as Cerebro - oculofacio - skeletal syndrome (COFS),Cockayne syndrome type Ⅱ,Cockayne syndrome type Ⅰ, Cockayne syndrome type Ⅲ and ultraviolet ray(UV)- sensitive syndrome. In addition,there is xeroderma pigmentosum -Cockayne syndrome type. Cockayne syndrome manifested as the defect of DNA repair after UV damage cytologically. The main pathogenic genes of Cockayne syndrome are CSA (ERCC8)and CSB (ERCC6). Now,the progress of clinical and genetic studies on Cockayne syndrome were reviewed.

Risk factors associated with actinic prurigo: a case control study

Abstract: Background: Actinic prurigo (AP) is an idiopathic photodermatosis. Although its initial manifestations can appear in 6 to 8-year-old children, cases are diagnosed later, between the second and fourth decades of life, when the injuries are exacerbated. Objective: To identify risk factors associated with clinical manifestations of AP such as skin and mucosal lesions. Methods: Thirty patients with AP and 60 controls were included in the study, the dependent variable was the presence of skin or labial mucosal lesions, the independent variables were age, sex, solar exposure, living with pets or farm animals, exposure to wood smoke, smoking habit, years smoking, and hours spent per day and per week in contact with people who smoke. Results: Of the 30 diagnosed AP patients, 66.7% were female. Patients age ranged from 7 to 71 years and the mean age was 35.77 ± 14.55 years. We found significant differences with the age and cohabitation with farm animals. Those who lived with farm animals presented 14.31 times higher probability of developing AP (95% CI 3-78.06). Study limitations: This is a case-control study; therefore, a causal relationship cannot be proven, and these results cannot be generalized to every population. Conclusions: The identification of factors related to the development of AP increases our knowledge of its physiopathology. Moreover, identifying antigens that possibly trigger the allergic reaction will have preventive and therapeutic applications in populations at risk of AP.

Experimental poisoning by Enterolobium contortisiliquum in sheep / Intoxicação experimental por Enterolobium contortisiliquum em ovinos

Ingestion of Enterolobium contortisiliquum pods causes digestive disturbances, secondary hepatogenous photosensitization and abortions in ruminants. Pods were administered to sheep via a ruminal cannula to characterize acute poisoning. In Experiment 1, a single dose of 12g/kg of body weight (BW) was administered to three sheep in one experiment. One sheep died, and the other two recovered after presenting clinical signs. In Experiment 2, 10g/kg BW were administered daily to 15 sheep until the onset of clinical signs or for three consecutive days. Fourteen sheep showed mild to severe signs after the ingestion of 1-3 doses. Two sheep died, and the others recovered. Clinical signs in both experiments were diarrhea, anorexia, rumen atony, apathy, dehydration and tachypnea. The main macroscopic findings were an orange, frothy ruminal content witch contained pods fragments. The intestinal content was liquid. Detachment of the mucosa from the submucosa and ballooning degeneration of mucosal cells were observed histologically in the forestomachs. Evaluation of ruminal contents revealed acute lactic ruminal acidosis (ALRA). Bromatological analysis of E. contortisiliquum pods revealed 537.8g/kg DM (dry matter) of non-fibrous carbohydrates, which is sufficient to cause ALRA. Only one sheep in Experiment 2 had liver failure, characterized by jaundice, elevated serum activity of liver enzymes and histological lesions in liver biopsies. It is concluded that the administration of E. contortisiliquum pods in forage-fed sheep at doses of 10g/kg BW or higher may cause ALRA. The induction of liver failure in one sheep suggests that liver damage may occur in those sheep that do not develop acidosis.(AU)

A ingestão das favas de Enterolobium contortisiliquum causa distúrbios digestivos, fotossensibilização hepatógena e abortos em ruminantes. Para caracterizar a intoxicação aguda, favas de E. contortisiliquum foram administradas a ovinos por meio de cânula ruminal. No Experimento 1, uma dose única de 12g/kg de peso corporal (pc) foi administrada a três ovinos. Um dos ovinos morreu e os outros dois se recuperaram após mostrar sinais clínicos. No experimento 2, 10g/kg/pc foram administradas diariamente a 15 ovinos, por três dias consecutivos ou até o parecimento dos sinais clínicos. Catorze ovinos mostraram sinais clínicos leves a acentuados após ingestão de 1-3 doses. Dois ovinos morreram e os outros se recuperaram. Observou-se nos ovinos dos experimentos 1 e 2, diarreia, anorexia, atonia ruminal, apatia, desidratação e taquipneia. Os principais achados macroscópicos incluíram conteúdo ruminal espumoso e alaranjado em meio ao qual se observavam fragmentos das favas de E. contortisiliquum, e conteúdo intestinal líquido. Histologicamente, havia degeneração balonosa e desprendimento do epitélio de revestimento dos pré-estomagos. A avaliação do conteúdo ruminal revelou acidose ruminal láctica aguda (ARLA). Análise bromatológica das favas de E. contortisiliquum revelou 537.8g/kg de matéria seca de carboidratos não fibrosos, quantidade suficiente para causar ARLA. Um ovino do Experimento 2 teve insuficiência hepática aguda, caracterizada por icterícia, elevação da atividade sérica das enzimas hepáticas e alterações histológicas observadas em biópsia hepática. Concluiu-se que a administração de favas de E. contortisiliquum na alimentação de ovinos, nas doses de 10g/kg pc ou maiores, pode causar ARLA. A ocorrência de insuficiência hepática num dos ovinos deste experimento sugere que a lesão hepática pode se desenvolver em ovinos que não apresentam ARLA.(AU)

Eccrine Hidrocystoma Treated with Low-concentration Atropine Sulfate / 대한피부과학회지

No abstract available.

Dialysis-associated Pseudoporphyria: An Often Overlooked Cause

Pseudoporphyria is a condition clinically and histologically similar to porphyria cutanea tarda (PCT)but without abnormalities in porphyrin metabolism. Pseudoporphyria has also been described inpatients with chronic renal failure, with or without accompanying dialysis. Herein we report a caseof dialysis-associated pseudoporphyria in the hopes that increased awareness of this condition mayultimately lead to improved outcomes with the institution of specific treatment measures.