Tuberous sclerosis: literature review and case report

Tuberous sclerosis (TS) or Bourneville’s disease is a rare, multisystemic genetic disorder. It involves alterations to ectodermal and mesodermal cell differentiation and proliferation, causing benign hamartomatous tumors, neurofibromas and angiofibromas in the brain and other vital organs including the kidney, heart, eyes, lungs, skin and mucosa. It also affects the central nervous system and produces neurological dysfunctions such as seizures, mental retardation and behavior disorders. Tuberous (rootshaped) growths develop in the brain, and calcify over time, becoming hard and sclerotic, hence the name given to the disease. Although inheritance is autosomal dominant, 60-70% of cases occur through spontaneous mutations. The disease is related to some mutations or alterations in two genes, named TSC1 and TSC2. Discovered in 1997, TSC1 is located on chromosome 9q34 and produces a protein called hamartin. TSC2, discovered in 1993, is located on chromosome 16p13 and produces a protein called tuberin. The prevalence of the disease is 1/6000-10,000 live newborns, and it is estimated that there are 1-2 million sufferers worldwide. This paper presents a literature review and a family case report of a mother and two of her daughters with oral features of TS

Buccodental health and oral mucositis : clinical study in patients with hematological diseases

El objetivo del presente trabajo fue valorar si un buen estado buco-dental (valorado mediante índices dento-gingivales), se asociaba a una menor incidencia y gravedad de mucositis oral en pacientes con enfermedades hematológicas que iban a recibir tratamiento con quimioterapia o un trasplante de médula ósea. Diseño del estudio: El estudio se llevó a cabo en 97 pacientes ingresados en el Servicio de Hematología del Hospital Duran y Reynals en Barcelona en los años 2002-2003. Estos pacientes recibían tratamiento con quimioterapia o bien el acondicionamiento previo a un trasplante de médula ósea. Se realizó un estudio descriptivo analizando un índice dental, dos índices gingivales y la higiene oral y su relación con la aparición de mucositis. Resultados: Los pacientes que durante la quimioterapia mostraron valores elevados del índice de placa (IP) y gingival (IG) presentaron un mayor porcentaje de mucositis (77.4% y 65.7% respectivamente) frente a los que tenían poca placa o ésta no era visible. En el caso del IP las diferentas fueron estadísticamente significativas (p=0.015). Asimismo los pacientes que cepillaban los dientes 3veces/día sólo presentaron mucositis en un 26.7% de los casos, frente a los que no cepillaban o lo hacían una vez al día (65.9% y 68.4%), siendo estas diferencias también estadísticamente significativas (p=0.013). El ICAO mostró resultados similares en los pacientes con o sin mucositis (7.59 y 7.03 respectivamente). Conclusiones: En nuestro trabajo, un buen estado gingival así como una buena higiene oral durante la quimiorradioterapia, se asocian a una menor incidencia y gravedad de mucositis

Cutaneous, genital and oral lichen planus : a descriptive study of 274 patients

Lichen planus (LP) is a chronic autoimmune disease that affects the oral mucosa as well as the skin, genital mucosa and other sites. Objective: to evaluate the correlation between oral, genital and cutaneous lichen planus, in a sample of LP patients. This descriptive study reviewed 274 clinical histories of patients, who all presented histological confirmation of lichen planus verified by a pathologist, attending research centers in Barcelona. A total of 40 LP patients (14.59%) presented genital lesions. Of 131 patients with cutaneous LP (47.8%), the most commonly affected zones were the body?s flexor surfaces, representing 60.1% of cases. 24% of patients (n=55) related the start of the lesions with previous stress events. Of the 131 subjects with cutaneous lesions, 19% (n=25) also presented oral lichen planus (OLP). Of the total sample, 53.6% (n=147) of patients presented oral lesions. The systemic diseases most commonly associated with this patient sample were psychological problems such as stress, anxiety and depression (48%), hypertension (27%), gastric problems (12%), and diabetes (9.7%). A family history of lichen planus was found in only 2 cases (0,72%) out of the total of 274. Any patient with OLP should undergo a thorough history and examination to investigate potential extraoral manifestations. The fact that 37 patients with OLP in this patient series were identified with simultaneous involvement at more than one site highlights the need for thorough evaluation and multidisciplinary approaches to this disease

Lepromatous leprosy : a review and case report

La lepra es una enfermedad granulomatosa sistémica crónica y contagiosa, producida por Mycobacterium leprae (bacilo de Hansen). Se transmite de persona a persona y tiene un largo período de incubación (entre 2 y 6 años). Existen dos formas clínicas polares: lepra lepromatosa (multibacilar) y lepra tuberculoide (paucibacilar), con otras formas intermedias de características híbridas. Las manifestaciones orales suelen aparecer en la lepra lepromatosa y se producen en el 20 al 60% de los casos. Pueden tratarse de nódulos múltiples (lepromas), que progresan a necrosis y ulceración. Las úlceras curan con lentitud; forman cicatrices atróficas o pueden causar la destrucción del tejido. Las lesiones suelen localizarse en el paladar duro y blando, en la úvula, en el dorso de la lengua, en los labios y en las encías. También puede producirse destrucción de la parte frontal del maxilar y pérdida de dientes. El diagnóstico, basado en la presunción clínica, se completa con el examen bacteriológico e histopatológico, así como mediante la prueba de la lepromina (intradermorreacción que suele ser negativa en la forma lepromatosa y positiva en la tuberculoide). El diagnóstico diferencial incluye lupus eritematoso sistémico, sarcoidosis, leishmaniasis cutánea y otras enfermedades de la piel, sífilis terciaria, linfomas, micosis sistémicas, lesiones traumáticas y neoplasias malignas, entre otras. El tratamiento es difícil, ya que ha de prolongarse durante mucho tiempo, requiere varios fármacos con efectos adversos y resulta muy caro, sobre todo para los países menos desarrollados. Los de empleo más frecuente son la dapsona, la rifampicina y la clofazimina. También son eficaces las quinolonas, como ofloxacino y pefloxacino, así como algunos macrólidos, como la claritromicina y la minociclina. En el presente trabajo se expone el caso clínico de un paciente afecto de lepra lepromatosa, adquirida en un ambiente familiar de contagio durante la infancia y adolescencia

Oral lichen planus and its relationship with systemic diseases. A review of evidence

Oral lichen planus (OLP) is one of the most common dermatological diseases which are present in the oral cavity. It is a chronic autoimmune, mucocutaneous disease that affects the oral mucosa as well as the skin, genital mucosa and other sites. Review the relevant information to OLP and its relationship with systemic diseases. Searches were carried out in the Medline/PubMed, Lilacs, Bireme, BVS, and SciELO databases by using key-words. After an initial search that provided us with 243 papers, this number was reduced to 78 from the last seven years. One of the first criteria adopted was a selective reading of the abstracts of articles for the elimination of publications that presented less information regarding the subject proposed for this work. All the selected articles were read in their entirety by all of the authors, who came to a consensus about their level of evidence. The Scottish Intercollegiate Guidelines Network (SIGN) criteria were used as the criteria of methodological validation. Only 9 articles showed an evidence level of 1+, 2+, 3 or 4, as well as a recommendation level of A, B, C or D. Three of them were non-systematic reviews, one was a cohort study and only one was a controlled clinical trial. Three of the studies were case series, with respective sample sizes of 45, 171 and 633 patients. Several factors have been associated with OLP. Patients with OLP are carriers of a disease with systemic implications and may need the care of a multidisciplinary team. The correct diagnosis of any pathology is critical to making effective treatment and minimizes iatrogenic harm. For OLP is no different, taking into account its association with numerous systemic diseases that require special attention from health professionals. Periodic follow-up of all patients with OLP is recommended

Low-level laser therapy in patients with Burning Mouth Syndrome : a double-blind, randomized, controlled clinical trial

Evaluate the effect of LLLT in the treatment of burning mouth syndrome (BMS). Twenty-one BMS patients were randomly assigned to two groups: 12 in the laser group (LG) and 9 in the control group (CG). Patients in the LG underwent 2-week sessions of LLLT for 4 weeks. The spot tip area of this tool is 0.088cm2, semi-conductor GaAlAs, with a wavelength of 808nm ±5nm (infrared), 200 mW output power, 1.97W/cm2 of power density, 3 J energy per point and application time 15 seconds per point. LLLT was applied punctually, in continuous emissions, on each of the sites where there was a symptom. Symptoms were evaluated with a visual analogue scale (VAS) and patient psychological profiles were assessed using the Hospital Anxiety-Depression Scale. No side effects were recorded. Statistical analysis was carried out via ANOVA and logistic regression analysis. The initial VAS score mean was 8.9 for the LG and 8.3 for the CG (p >0.05). After the eighth session the VAS score was 5.5 and 5.8 respectively, and at two months it was 4.7 and 5.1 respectively. Improvement variables were established by dichotomizing the pain scales. We obtained levels of significance for the improvement variable for the LG at the two-month follow-up (p=0.0038) and for the univariate analysis of the treatment. The improvement was marginally significant in the multivariant analysis of: dry mouth, dysgeusia, pain and the treatment (p=0.0538). LLLT may be an alternative treatment for the relief of oral burning in patients with BMS

Chronic ethanol induces morpohological changes on hippocampal microglia, which are reverted by pharmacological blockade of faah with urb597

Tipo de presentación: PósterHere, we evaluated the pharmacological effects of fatty-acid amide-hydrolase (FAAH) inhibitor URB597 (0.3 mg/kg), oleoylethanolamide (OEA, 10 mg/kg), arachidonoylethanolamide (AEA, 10 mg/kg), the CB1 receptor agonist ACEA (3 mg/kg) and the CB2 receptor agonist JWH133 (0.2 mg/kg) administered for 5 days in a rat model of sub-chronic (2 weeks) ethanol diet (11% v/v) exposure. As a result of these trials, URB597 turned to be the most effective treatment. Contrary to ethanol, URB597 reduced the mRNA levels of Iba-1, Tnfα, IL-6 and monocyte chemoattractant protein-1 (MCP-1/CCL2), as well as the number of cells expressing GFAP or iNOS. Moreover, URB597 effects on hippocampal immune system were accompanied by changes in short and long-term visual recognition memory. Microglial morphometric analysis pointed out significant changes after ethanol exposure, suggesting that microglial cell morphology is closely related to ethanol-induced neuroinflammation. Ethanol provoked changes in fractal dimension, lacunarity, density, roughness, cell area and cell perimeter, which explain a decreased complexity of branches and increased cell surface irregularities. Such changes may represent a chronic activation state of microglia. In addition, ethanol effects on the microglial morphological parameters density and fractal dimension were reverted by URB597. Thus, this FAAH inhibitor was able to counteract the sub-chronic ethanol-induced morphological changes of microglia, resulting in a more compact and increased branch complexity, which apparently relate to a less activated state. Therefore, these morphometric parameters are sensitive and valuable tools to evaluate the chronic activation of microglia by ethanol and its pharmacological blockade.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. RETICS Red de Trastornos Adictivos, ISCIII, MINECO, ERDF-EU (RD16/0017/0001; PI17/02026; SAF2017-83645R). Plan Nacional sobre Drogas, MSCBS (PNSD2015/047; PND2017/043). Proyectos de investigación de excelencia, Junta de Andalucía (P11-CVI-07637)

Level of blood pressure control in a hypertensive population when measurements are performed outside the clinical setting

Background: To determine whether the number of optimally controlled hypertensive patients is higher using self-measurement of blood pressure at home and ambulatory monitoring, compared to using conventional blood pressure measurements at the doctor&#8217;s office. Method: An observational, cross-sectional, multicentre, descriptive study of a random sample of 237 primary health care patients, known to be hypertensive, from Badajoz (Spain). Blood pressure was measured at the doctor&#8217;s office and by self-measurement at home. Those patients showing good control by self-measurement were subjected to 24-hour ambulatory monitoring. Optimal control was understood as blood pressure < 140/90 mm Hg when measured at the doctor&#8217;s office, and < 135/85 mm Hg when self-measured at home and by daytime ambulatory monitoring. Results: Mean systolic/diastolic measurements at the doctor&#8217;s office and by self-measurement were 145.6/83.9 and 134.0/78.7 mm Hg, respectively (p < 0.000). In the population optimally controlled by self-measurement and who subsequently received ambulatory monitoring, the mean blood pressure was 121.8/73.4 and 125.6/76.2 mm Hg, respectively (p = 0.002; p < 0.000). When measured at the doctor&#8217;s office blood pressure was controlled in about 29.5% (95% CI 23.7-35.3%) of patients, in 38% when self-measured (95% CI 31.4-44.2%; p < 0.000), and in 24.5% when it was confirmed through ambulatory monitoring (95% CI 15.4-33.6%). Sensitivity and positive predictive values of the office measurements for the detection of patients who were well-controlled by self-measurement were 50% and 64.3%, respectively, and 53.4% and 73.8% as regards ambulatory monitoring. Conclusions: A higher level of control is achieved with self-measurement at home not confirmed by ambulatory monitoring. Therefore, the white coat effect does not seem to influence the percentage of well-controlled patients detected at the doctor&#8217;s office. Office blood pressure does not appear to be useful in distinguishing which individual patients are optimally controlled