Impact of cognitive impairment, depression, disease activity, and disease damage on quality of life in women with systemic lupus erythematosus.

OBJECTIVES: To define the relative role of cognitive impairment, depression, disease activity, and disease damage in the decreased health-related quality of life (HRQoL) frequently observed in systemic lupus erythematosus (SLE) patients. METHOD: We studied 101 Chilean female SLE patients and applied the 12-item Medical Outcomes Study (MOS) Short Form Health Survey version 2 (SF-12v2) to assess HRQoL and the Cambridge Neuropsychological Test Automated Battery (CANTAB) to assess cognitive function. Analysis of covariance (ANCOVA) models included demographic and disease-related factors and cognitive function tests of sustained attention, memory, and executive function. RESULTS: All measures of HRQoL were lower in the 101 female SLE patients compared to the women from the Chilean general population. HRQoL was associated with the following factors: (i) depression symptoms, which were detrimental to all components of the physical and mental HRQoL scores; (ii) executive dysfunction (spatial planning), which was associated with lower scores on role limitations due to physical health problems and emotional problems, and general health perceptions; (iii) higher activity and organ damage were deleterious to role physical, bodily pain, and physical summary scores; and (iv) higher damage also impacted physical function. Impairments in sustained attention and memory did not decrease the HRQoL. CONCLUSIONS: Our results highlight the relevance of executive dysfunction to poor physical and mental health components of HRQoL in SLE together with depression, while disease activity and disease damage are associated with lower HRQoL physical components. The need for cognitive function evaluation and rehabilitation in SLE is indicated.

Anti-N-methyl-D-aspartate receptor and anti-ribosomal-P autoantibodies contribute to cognitive dysfunction in systemic lupus erythematosus.

OBJECTIVE: Autoantibodies against N-methyl-D-aspartate receptor (anti-NMDAR) and ribosomal-P (anti-P) antigens are potential pathogenic factors in the frequently observed diffuse brain dysfunctions in patients with systemic lupus erythematosus (SLE). Although studies have been conducted in this area, the role of anti-NMDAR antibodies in SLE cognitive dysfunction remains elusive. Moreover, the specific contribution of anti-P antibodies has not been reported yet. The present study attempts to clarify the contribution of anti-NMDAR and anti-P antibodies to cognitive dysfunction in SLE. METHODS: The Cambridge Neuropsychological Test Automated Battery (CANTAB) was used to assess a wide range of cognitive function areas in 133 Chilean women with SLE. ANCOVA models included autoantibodies, patient and disease features. RESULTS: Cognitive deficit was found in 20%. Higher SLEDAI-2K scores were associated with impairment in spatial memory and learning abilities, whereas both anti-NMDAR and anti-P antibodies contributed to deficits in attention and spatial planning abilities, which reflect fronto-parietal cortex dysfunctions. CONCLUSIONS: These results reveal an association of active disease together with specific circulating autoantibodies, such as anti-NMDAR and anti-P, with cognitive dysfunction in SLE patients.

Systemic lupus erythematosus impairs memory cognitive tests not affected by depression.

OBJECTIVE: Our aim was to assess the contribution of depression to cognitive impairment in patients with systemic lupus erythematosus (SLE). METHODS: Clinical features, education, age, and Hospital Anxiety and Depression Scale (HADS) were evaluated in 82 patients with SLE and 22 healthy controls, all Chilean women. The Cambridge Neuropsychological Test Automated Battery (CANTAB eclipseTM) assessing attention, spatial memory, and learning and executive function domains was applied. Cognitive deficit definition: a cut-off for definite impairment was defined as a score below -2 standard deviations in at least one outcome measure in two or more domains. ANCOVA with stepwise selection evaluated influences of health status (SLE or control), age, education, and HADS depression and anxiety scores on cognitive outcomes. To avoid overfitting, a shrinkage method was performed. Also, adjusted p-values for multiple comparisons were obtained. RESULTS: Cognitive deficit affected 16 (20%) patients, and no controls (p=0.039). Median HADS depression score in SLE patients was 6 (range 0-19) and in controls was 0 (0-19), p<0.001). ANCOVA and shrinkage models showed that worse cognitive performance in sustained attention and spatial working memory tests was explained by the presence of SLE but not depression, whereas depression only affected a measure of executive function (I/ED Stages completed). CONCLUSION: Depression has a limited role in cognitive impairment in SLE. Impairments in sustained attention and spatial working memory are distinctly influenced by yet-unknown disease-intrinsic factors.

Subretinal abscess due to nocardia in an immunosuppressed patient: a case report.

Systemic nocardiosis is a rarely occurring pathology, but its hematogenous spread across the eye is even less likely to occur, with only a few recorded cases. Therefore, it is not usually taken into account when a subretinal abscess is being considered for a diagnosis. However, when confronting a case with a history of immunosupression and pulmonary disease, the examination of the ocular fundus may be a very successful approach. With such aim we introduce the case of a 45-year-old immunosupressed male, without a history of pulmonary disease, whose subretinal mass evolution is accordant with an abscess. In the end, being etiologically diagnosed by means of a vitrectomy, it was concluded that the abscess was due to an infection of nocardia cyriacigeorgica, an emergent pathogen. Thus the aforementioned case is to be considered in the present study, along others, in order to shed more light on a disease which may not be readily diagnosed on account of its infrequency.

Impact of the first superspreading outbreak of COVID-19 related to a nightlife establishment in Andalusia, Spain.

INTRODUCTION AND AIM OF THE STUDY: A notable proportion of COVID outbreaks are generated by "super-spreading events", where a few subjects transmit the pathogen to many secondary cases, increasing contact networks and the spread of the pathogen. We conducted a description of a COVID-19 superspreading event in Córdoba during July 2020, linked to a nightlife establishment. MATERIAL AND METHODS: Retrospective observational study describing characteristics of person, time, PCR result and contact network of confirmed cases. PCR results in Córdoba during July and August and information collected in surveillance systems were analyzed. RESULTS: 935 individuals associated with the outbreak were included; 120 (12.83%) became confirmed cases. July 17 was the day with the highest incidence, with 27 new cases (22.5% of the total). People under 25 years old represented 69.2% of the cases. The average number of close contacts per person was 10.7, with a decrease as age raised. During the outbreak, incidence increased at the provincial level compared to previous weeks; at the end, incidence did not return to initial values but remained high with a relevant percentage of cases having unknown epidemiological association. CONCLUSIONS: A greater transmission capacity of SARS-CoV-2 was observed in a closed, crowded space, and among young people that tended to report a greater number of social contacts and may present little or no symptoms. Developing preventive measures in scenarios that combine these factors and early detection of cases are essential to avoid an increase in the spread of the virus.

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

BACKGROUND: Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD). The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene. OBJECTIVE: To study a 19-year-old woman from Equatorial Guinea, one of the few cases of HEP of African descent and to characterize a new mutation causing HEP. METHODS: Excretion of porphyrins and residual UROD activity in erythrocytes were measured and compared with those of other patients with HEP. The UROD gene of the proband was sequenced and a new mutation identified. The recombinant UROD protein was purified and assayed for enzymatic activity. The change of amino acid mapped to the UROD protein and the functional consequences were predicted. RESULTS: The patient presented a novel homozygous G170D missense mutation. Porphyrin excretion showed an atypical pattern in stool with a high pentaporphyrin III to isocoproporphyrin ratio. Erythrocyte UROD activity was 42% of normal and higher than the activity found in patients with HEP with a G281E mutation. The recombinant UROD protein showed a relative activity of 17% and 60% of wild-type to uroporphyrinogen I and III respectively. Molecular modelling showed that glycine 170 is located on the dimer interface of UROD, in a loop containing residues 167-172 that are critical for optimal enzymatic activity and that the carboxyl side chain from aspartic acid is predicted to cause negative interactions between the protein and the substrate. CONCLUSIONS: The results emphasize the complex relationship between the genetic defects and the biochemical phenotype in homozygous porphyria.

[Endoscopic treatment with Deflux for primary vesicoureteral reflux]. / Resultado del tratamiento endoscópico con Deflux en el reflujo vesicoureteral primario.

PURPOSE: Effectivety for endoscopic treatment for primary reflux has been under discussion as a single procedure. In the last 3 years our unit have been used Deflux, (dextranomer copolymer in hialuronic acid) for this pathology. The aim of this study is to analyze the results of our experience. MATERIAL AND METHODS: Since 2002, a prospective protocol for VUR has been applied. We reviewed the last 25 cases treated with Deflux per thousand injection who had ultrasound and cistography. RESULTS: 86% (n = 21) were females and with a mean age of 6.1 years (range 2-14) the success rate with a single injection was 73.6% (n = 28). The amount of deflux injected was irrelevant in the result. The results in the low grades reflux (I-II) reaching the 100% (n = 15). The worse result was in the double system cases with just one successful case out of 6 injected. The procedure was in outpatient bases. There were no peri-procedures complications. CONCLUSIONS: The endoscopic treatment for VUR with Deflux, is a good alternative to medical treatment especially in single ureter with low grade. Therefore the authors recommend this technique at the time of counseling parents.

[Valuation of APRI and Forns models for non-invasive diagnosis of fibrosis in patients with hepatitis C in coinfected and non-coinfected with HIV]. / Valoración de los modelos APRI y Forns para el diagnóstico no invasivo de fibrosis en pacientes con hepatitis C coinfectados y no coinfectados por VIH.

BACKGROUND: APRI and Forns (IF) index are noninvasive models consisting of routine laboratory data for the prediction of liver fibrosis in patients with chronic hepatitis C. The aim of our study was to confirm the value of these models to predict significant fibrosis in these patients and if they may decrease the need for performing liver biopsy specimens in coinfected and HIVnon-coinfected. PATIENTS AND METHOD: We included 60 patients with chronic hepatitis C and histologic data, 33 were coinfected with HIV. Mild fibrosis (F0-F1) was found in 73% patients, severe fibrosis (F3-F4) in 23% and cirrhosis in 18.3%. We calculated and compared APRI and IF with the stage of liver fibrosis. RESULTS: The APRI score < 0.5 or > 1.5 and IF < 4.2 or > 6.9, as predictors of mild or severe fibrosis, were only available in 53% and 49%. Neither laboratory nor APRI and IF were associated with liver fibrosis in non-coinfected patients. We only found association in HIV coinfected patients: severe fibrosis (F3-4) whit higher gammaglobulins [24.5% vs. 30% (p < 0.05)] and Gamma-GT levels [77 (46.5) vs. 32 (48.5) (p < 0.05)], and lower prothrombin time [72% vs. 91% (p < 0.05) ] and platelets.109 count [129 (40) vs. 170 (78) (p < 0.05)]; APRI was lower than 0.5 in 41.6% patients with mild fibrosis (F0-1) against none with severe (F3-4) (p < 0.05); specifity (E) of APRI < 0.5 for predicting mild fibrosis was 100%, but sensivity (S) was very low (41%), with a positive preditive value (VPP) of 100%, but a negative predictive value (VPN) also very low ( 36.3%). CONCLUSIONS: Our study showed that these models don t avoid the need for liver biopsies. More than a half of patients are not appropriately classified according to findings on liver biopsy and S and VPN are very low. The combination of these index with gammaglobulins, Gamma-GT, AST, ALT and platelet levels and protrombine time, only may be an approach to degree of fibrosis or inflammation liver in HIV co-infected patients.

Gene promoter hypermethylation in oral rinses of leukoplakia patients--a diagnostic and/or prognostic tool?

Leukoplakia is the most frequent oral precancerous lesion and shows a variable rate of malignant transformation. We hypothesised that the detection of molecular alterations, like the promoter hypermethylation of DNA, in oral cytological samples from patients at risk of developing primary or recurrent tumours could be a valuable diagnostic and prognostic tool in the management of these lesions. Two groups of patients with differing risks of developing oral squamous cell carcinoma (OSCC) were analysed. DNA was extracted from the oral rinse of each patient. The methylation status of the p16, p14 and MGMT gene promoters was determined using a methylation-specific polymerase chain reaction (MSP). Methylation of p16 and MGMT was observed in 44 and 56% of the oral samples, respectively. Only 12% of the cases showed p14 methylation. DNA hypermethylation was more frequent in patients with previous OSCC. DNA promoter hypermethylation is frequent during early oral carcinogenesis and even more so in the later stages. MSP using oral rinses is a non-invasive and highly sensitive technique which could be used to monitor patients with precancerous and cancerous oral lesions.

Use of cytological specimens for p53 gene alteration detection in oral squamous cell carcinoma risk patients.

AIMS: Recurrence and multifocal nature are two important characteristics of oral squamous cell carcinoma. Leukoplakia is the most frequent pre-cancerous oral lesion and, in most cases, it is not possible to predict malignant capacity. The objective of this study is to identify p53 alterations in cells taken from the oral cavity of at-risk patients. MATERIALS AND METHODS: The following samples were collected from 34 patients with oral leukoplakia with and without previous carcinoma: oral rinse, a brush swabbed over the lesions and hair roots. Mutational analysis of the p53 gene was performed by single-strand conformation polymorphisms and confirmed by DNA sequencing. RESULTS: We detected 11 mutations in p53 gene in oral cytological specimens. These alterations were observed only in brush cytology samples in patients without previous carcinoma, and in both samples (rinse and brush) in patients with previous carcinoma. Three of these patients had disease recurrence. CONCLUSION: This non-invasive technique may be useful in the follow-up of at-risk patients, and introduces new possibilities to analyse molecular markers before malignant lesions are clinically apparent.

[Oral mycoses in the AIDS era]. / Las micosis orales en la era del sida.

The present advancement and generalization of oral mycosis is probably due to different factors associated to the progress and development of the countries and the presence of medically compromised patients and immunosupressor therapies. From all these mycoses, oral candidosis is the commonest, but histoplasmosis and paracoccidioidomycosis are also important. The main clinicopathologic and therapeutic features of those oral diseases are reviewed in this paper.

Rhabdomyomatous dysplasia of lung and congenital diaphragmatic hernia.

A previously unrecognized association of pulmonary rhabdomyomatous dysplasia and congenital posterolateral diaphragmatic hernia is reported. The authors subscribe to the concept of ectopia and postulate an anomalous migration of cervical "diaphragmatic" rhabdomyoblasts as the most probable origin of the pulmonary muscle fibers.

Chondroma of the tongue. Report of a case and review of the literature.

A case of chondroma of the tongue in a 53-year-old male is reported. A review of the literature is presented.

Dental enamel defects in celiac patients.

OBJECTIVE: The incidence and distribution of enamel defects among patients with celiac disease were examined. STUDY DESIGN: The oral cavity was explored in 137 patients with celiac disease (mean age 16.2 years; age range 5 to 68 years) and in 52 control patients (mean age 19.8 years; age range 5 to 64 years). Permanent dentition enamel defects were recorded, along with their number and locations. The decayed, missing, and filled teeth index rates were also established, and an investigation was made of the human leukocyte antigens among the patients with celiac disease. The results obtained were analyzed with the chi-squared test, statistical significance being regarded for p < or = 0.05. RESULTS: Enamel defects were observed in 72 (52.5%) of the patients with celiac disease (52 patients had systematic defects) and in 22 (42.3%) of the control patients (9 patients had systematic defects). Systematic defects were significantly more common in the celiac disease group. In the patients with celiac disease, 72.2% were symmetrical, compared with 40.9% of the defects in the control patients. The incisors were the most frequently affected teeth, the extent of involvement being significantly greater in the celiac disease group. In patients with celiac disease, DR7, DR3, and DQ2 were the most commonly observed human leukocyte antigens. The mean decayed, missing, and filled teeth index rates were 4.8 and 6.2 in the celiac disease group and the control group, respectively. CONCLUSIONS: Enamel defects are common among patients with celiac disease. They tend to be bilateral and symmetrical, and they are chronologically distributed. The lesions affect mainly the incisors and the molars. Patients with such characteristics should be evaluated for possible celiac disease.

Superficial mucocele: report of 4 cases.

Four cases of the lesion first described as superficial mucocele by Eveson in 1988 are reported. All of the lesions developed in adult women; two of the women had concurrent oral lichen planus. The mucoceles were found on the soft palate, the buccal mucosa, and the upper and lower labial mucosa. The etiologic factors and pathogenesis of this lesion are discussed.

Gingivostomatitis after eating fish parasitized by Anisakis simplex: a case report.

Anisakis simplex (AS) is a nematode that may be encountered as a parasite in various kinds of seafood. Human beings may accidentally acquire AS larvae by eating raw or undercooked seafood. In addition to human parasitization (anisakiasis), this nematode can induce allergic reactions. AS-related diseases are frequent, especially in those countries with a high level of fish consumption and with traditions of eating raw or undercooked seafood. To our knowledge, this is the first report of gingivostomatitis secondary to the ingestion of fish with AS parasites.

Warthin tumor. A new hypothesis concerning its development.

OBJECTIVE: Warthin tumor is the second most common benign parenchymal salivary neoplasm. The purpose of this study was to evaluate the histopathologic features of Warthin tumor to determine whether a developmental pattern could be identified. STUDY DESIGN: Seventy-nine Warthin tumors in 63 patients (62 male and 1 female; average age, 58.62 years) were examined. All cases were histopathologically classified and morphometrically analyzed with an Optomax system to measure the proportions of lymphoid tissue and cystic cavities. RESULTS: The predominantly epithelial type (21% of all cases) of Warthin tumor was associated with a mean patient age at diagnosis of 53 years, a mean evolution time of 2.8 months, an average size of 1 cm, and a mean lymphoid component of 10%. In the case of the classical type (61% of all cases), the mean patient age at diagnosis was 58 years, the mean evolution time 9 months, the average size 2.4 cm, and the mean lymphoid component 40%. For the predominantly lymphoid type (18% of all cases), these values were, respectively, 62 years, 11 months, 2.8 cm, and 74%. The mean size of the classical and lymphoid tumors (79% of the Warthin tumors) was significantly greater (p < 0.0001) than the mean size of the epithelial type (21% of the Warthin tumors). A positive correlation between tumor size and evolution time was found. CONCLUSION: Our results suggest that the Warthin tumor initially develops as an adenomatous epithelial proliferation followed by lymphocytic infiltration.

[Prognostic significance of the electrocardiographic coronary reserve in stable angina]. / Significado pronóstico de la reserva coronaria electrocardiográfica en el angor estable.

We've studied the prognostic significance of the electrocardiographic coronary reserve, evaluated by seried effort tests, in patients with stable angina and proved coronary disease. Seventy-three patients with stable angina, who performed 2 exercise tests (basal and after vasodilator therapy) were included. It's considered variable reserve when in the second test the ST-descent improves greater than or equal to 1 mm for equal or higher double product (43 patients) and fixed reserve when it doesn't (30 patients). All of them underwent to coronariography study. The exercise test was seried each term during the first year. Clinical follow-up lasted 3 years and we considered cardiac events: myocardial infarction, unstable angina, surgery, PTCA or death. Patients with fixed reserve had higher maximal ST-descent (2.5 +/- 0.7 vs 1.9 +/- 0.6; p less than 0.05), lesser effort-time (359 +/- 144 vs 430 +/- 112; p less than 0.05), and more severe coronary disease (score: 3.5 +/- 1.5 vs 2.4 +/- 0.8; p less than 0.01) as compared with variable reserve group. Unfavorable clinic evolution was similar in both groups (44.3% in the fixed reserve group and 34.8% in the variable reserve group). We verified that 92.3% of patients with variable reserve who didn't modify its character in a year had good evolution; 76.4% of patients who changed to fixed reserve had unfavorable evolution (significant association, p less than 0.01). We conclude that in patients with variable reserve, the periodic evaluation of the reserve character has important prognostic implication.(ABSTRACT TRUNCATED AT 250 WORDS)

[Clinico-epidemiologic study of bacterial meningitis in Aragon]. / Estudio clinicoepidemiológico de las meningitis bacterianas en Aragón.

BACKGROUND: The aim of the present study was to know the incidence, etiology, prognostic factors and rate of mortality of bacterial meningitis in Aragón (Spain). METHODS: The clinical records of all the patients with bacterial meningitis seen in the hospitals in Aragón (Spain), from 1985 to 1988 inclusive were reviewed. RESULTS: The mean of the annual rates of incidence for Aragón (Spain) was 7.52/100,000 inhabitants. In patients under the age of 15 years the most frequent etiologies were Neisseria meningitidis (59.0%), Haemophilus influenzae (13.7%) and Streptococcus pneumoniae (9.4%); the global rate of mortality was 3.5% similar to that of sequelae. In those over the age of 14 years, the most frequent etiologies were N. meningitidis (33%), S. pneumoniae (18.4%) and Staphylococcus spp. (13.6%); the rate of global mortality was 19.5% and that of sequelae 10.8% with resistance of S. pneumoniae to penicillin and/or ampicillin in 45.5% of the cases in children and in 26.3% in adults. No significant evolutive differences related with the existence of resistances or the administration of antibiotics prior to lumbar punction were observed in any of the age groups. CONCLUSIONS: N. meningitidis is the main etiologic agent in Aragón in both children and adults. The greatest rates of mortality and sequelae were observed in the youngest and oldest age groups with a similar relation being seen in infection by gramnegative bacilli and S. pneumoniae, thus making these patients to be considered as being at high risk.

[Risk factors in stable coronary disease. Relationship with ischemic threshold and prognostic implications]. / Factores de riesgo en la enfermedad coronaria estable. Su relación con el umbral de isquemia e implicaciones pronósticas.

BACKGROUND: To assess the clinical evolution, in a 5-year follow-up, of the development of acute coronary syndromes, in patients with angina clinically stable, establishing its relationship with the ischemic threshold (IT) and the main modifiable cardiovascular risk factors. PATIENTS AND METHODS: 120 patients, 86 males (71%), with an age of 57 +/- 8 years, with stable angina. The presence of smoking, hypercholesterolemia, hypertension and diabetes mellitus was evaluated. We performed exercise testings (baseline and after vasodilator drugs) in the beginning, in order to characterize the IT (which was fixed in 72 patients and variable in 48). The later group underwent exercise testing each term during the first year of follow-up. Lesion at least of 70% in a main coronary vessel was required as inclusion criteria. The development of acute myocardial infarction (AMI), unstable angina pectoris and cardiac death was recorded. Cox's hazard function analysis and multivariant analysis were applied. RESULTS: 106 patients (88%) had one or more risk factors (40% hypertension, 43% hypercholesterolemia, 22% diabetes mellitus and 56% were smokers or ex-smokers). A significant association was shown between male gender and smoking and diabetes mellitus and female gender. 6 cardiac deaths, 8 AMI and 9 unstable angina were recorded. Within the 72 patients with fixed IT, 12.5% (9) suffered some acute syndrome. In the 48 with variable IT, in the 30 who continued in it, 20% (6) developed acute coronary pathology and in the 18 who modified their IT to fixed, the prevalence was 44.5% (8). Patients with modification of IT to fixed had a higher risk of acute coronary syndrome in the follow-up (p < 0.01) and the presence of hypertension and hypercholesterolemia allowed the prediction of modification of the IT. CONCLUSIONS: The prevalence of cardiovascular risk factors in the stable coronary artery disease is high (88%); male gender is associated smoking and female gender to diabetes mellitus. The presence of hypertension and hypercholesterolemia are associated to modification in the IT in patients with variable threshold, allowing the detection of a subgroup of high risk for the development of acute coronary pathology.