Pyoderma gangrenosum. A case report

Pyoderma gangrenosum is a rare inflammatory disease of unknown etiology characterized by sterile neutrophilic infiltration of the dermis, which may or may not be associated with systemic disease. Its classic description is the presence of one or more ulcerated skin lesions, painful, with an infectious appearance, irregular edges, undermined and with an excessive response to local trauma called pathergy. The case of a 58-years-old patient is presented, with skin lesions of two months' evolution and several previous treatments without improvement. Upon reassessment, her case was diagnosed and treated as pyoderma gangrenosum with satisfactory evolution.</p

Treatment with tocilizumab or corticosteroids for COVID-19 patients with hyperinflammatory state: a multicentre cohort study (SAM-COVID-19)

Objectives: The objective of this study was to estimate the association between tocilizumab or corticosteroids and the risk of intubation or death in patients with coronavirus disease 19 (COVID-19) with a hyperinflammatory state according to clinical and laboratory parameters. Methods: A cohort study was performed in 60 Spanish hospitals including 778 patients with COVID-19 and clinical and laboratory data indicative of a hyperinflammatory state. Treatment was mainly with tocilizumab, an intermediate-high dose of corticosteroids (IHDC), a pulse dose of corticosteroids (PDC), combination therapy, or no treatment. Primary outcome was intubation or death; follow-up was 21 days. Propensity score-adjusted estimations using Cox regression (logistic regression if needed) were calculated. Propensity scores were used as confounders, matching variables and for the inverse probability of treatment weights (IPTWs). Results: In all, 88, 117, 78 and 151 patients treated with tocilizumab, IHDC, PDC, and combination therapy, respectively, were compared with 344 untreated patients. The primary endpoint occurred in 10 (11.4%), 27 (23.1%), 12 (15.4%), 40 (25.6%) and 69 (21.1%), respectively. The IPTW-based hazard ratios (odds ratio for combination therapy) for the primary endpoint were 0.32 (95%CI 0.22-0.47; p < 0.001) for tocilizumab, 0.82 (0.71-1.30; p 0.82) for IHDC, 0.61 (0.43-0.86; p 0.006) for PDC, and 1.17 (0.86-1.58; p 0.30) for combination therapy. Other applications of the propensity score provided similar results, but were not significant for PDC. Tocilizumab was also associated with lower hazard of death alone in IPTW analysis (0.07; 0.02-0.17; p < 0.001). Conclusions: Tocilizumab might be useful in COVID-19 patients with a hyperinflammatory state and should be prioritized for randomized trials in this situatio

Behavior of paraneoplastic dermatoses in cancer patients. Cienfuegos, 2016-2017

Background: Paraneoplastic dermatoses are rare, and about them there are no previous studies in the Cienfuegos province. The timely diagnosis of a possible internal neoplasm sometimes depends on its correct recognition.Objective: to describe the behavior of paraneoplastic dermatoses in cancer patients.Methods: descriptive study, carried out in patients with malignant neoplasms, treated from June 2016 to December 2017, at the Dr. Gustavo Aldereguía Lima Hospital, in Cienfuegos. Fifty-nine patients with paraneoplastic dermatosis were included, for which the type of dermatosis, time of appearance and its association with each type of neoplasia were analyzed. The information was obtained through the clinical dermatological examination and the medical records.Results: 17 types of paraneoplastic dermatoses were identified, highlighting the Leser Trélat sign (21.0%), followed by Sweet's syndrome (16.1%) and pyoderma gangrenosum (11.3%). In 25 (42.4%) patients these were detected before the diagnosis of neoplasms, among which lymphoma (86.7%) was the most representative, followed by colon and breast neoplasms, although they were also associated with Syndrome of Sweet and a pyoderma gangrenosum.Conclusion: Recognizing the characteristic lesions of paraneoplastic dermatoses facilitates the early detection of a hidden cancer, whose own manifestations would probably appear months later, even years.</p

Melanotic macules of the penis. A case report

Melanotic macules of the penis are idiopathic, benign, rare lesions, sometimes multifocal, heterochromic and irregular, which must be differentiated from mucosal melanoma. A patient with asymptomatic pigmented lesions on the penis, but which had increased in number is presented. With dermoscopy and histopathology test, the diagnosis of melanotic macules of the penis was reached. Although the therapeutic options in the described environment are limited, the significance of this dermatosis diagnosis lies in ruling out the possibility of its malignancy.</p

Cutaneous sarcoidosis. A case report

Sarcoidosis is a systemic granulomatous disease of unknown cause, with a higher prevalence in females, between 20 and 40 years of age; characterized by the formation of non-caseating granulomas in different organs. Exclusive skin involvement is rare, as it is described in only 4-5% of patients, since skin lesions may appear before or after systemic involvement, or coincide with it. The case of a 35-years-old patient with skin lesions of four years of evolution is presented. Considering the clinical case and histopathology, the diagnosis of chronic and asymptomatic cutaneous sarcoidosis was concluded. It is a very polymorphic disease in its skin manifestations, which makes it a great simulator, and its diagnosis constitutes a challenge for the dermatologist

Dispersión de la onda P en niños hipertensos, su relación con el peso corporal

Introduction and objective: Atrial fibrillation is the paradigm of atrial electrical heterogeneity. The prolongation of intra and interatrial conduction and inhomogeneous propagation of electrical impulses are electrophysiological characteristics in paroxysmal atrial fibrillation. Obesity is a potential risk factor for atrial fibrillation. There are some reports about higher values of P wave dispersion in obese women. The aim was to determine the relationship between P wave dispersion and body weight in normotensive and hypertensive children between 8 and 11 years old. Methods: 358 children from a total of 543 were studied. Those whose parents did not want them to participate in the study and those who had known congenital diseases were excluded. A 12-lead surface ECG and 4 blood pressure measurements were conducted. Maximum and minimum P values were measured and P wave dispersion in the electrocardiogram was calculated. Other variables such as body weight were also obtained. Results: The difference between mean values for P-wave dispersion between normotensive and hypertensive patients was 31.85 ms vs 39.74 ms, respectively, p<0.001. There was an increased dispersion of P wave with weight gain, r=0.18 p=0.05. Conclusions: In hypertensive patients, P-wave dispersion and weight showed a significant correlation since childhood. There are significant differences between P wave dispersion values of the electrocardiogram between normotensive and hypertensive populations since childhood.Introducción y objetivo: La fibrilación auricular es el paradigma de heterogeneidad eléctrica auricular. La prolongación de la conducción intra e interauricular y la propagación no homogénea del impulso eléctrico, son características electrofisiológicas en la fibrilación auricular paroxística. La obesidad constituye un factor de riesgo potencial de fibrilación auricular. Se han informado valores más elevados de dispersión de la onda P en mujeres obesas. El objetivo de la investigación fue determinar la relación entre los valores de dispersión de la onda P y el peso corporal en niños normotensos e hipertensos, entre 8 y 11 años. Método: Se estudiaron 358 niños, de 543. Se excluyeron aquellos cuyos padres no desearon que participaran en el estudio y los que tenían enfermedades congénitas conocidas. Se realizó electrocardiograma de superficie de doce derivaciones y se practicaron cuatro tomas de presión arterial. Se midieron los valores máximos y mínimos de la onda P, se calculó su dispersión, y se obtuvieron otras variables como el peso corporal. Resultados: Las diferencias entre los valores medios para la dispersión de la onda P entre normotensos e hipertensos, fue de 31,85 vs. 39,74 ms, respectivamente (p<0.001). Existió un aumento de la dispersión de la onda P con el aumento del peso (r=0,18 y p=0.05). Conclusiones: La dispersión de la onda P y el peso corporal muestran una correlación significativa desde la infancia en la hipertensión arterial. Existen diferencias significativas entre los valores de la dispersión de la onda P del electrocardiograma entre normotensos e hipertensos desde la infancia

DISPERSIÓN DE LA ONDA P EN NIÑOS HIPERTENSOS, SU RELACIÓN CON EL PESO CORPORAL / P−wave dispersion in hypertensive children; its relationship with body weight

ResumenIntroducción y objetivo: La fibrilación auricular es el paradigma de heterogeneidad eléctrica auricular. La prolongación de la conducción intra e interauricular y la propagación no homogénea del impulso eléctrico, son características electrofisiológicas en la fibrilación auricular paroxística. La obesidad constituye un factor de riesgo potencial de fibrilación auricular. Se han informado valores más elevados de dispersión de la onda P en mujeres obesas. El objetivo de la investigación fue determinar la relación entre los valores de dispersión de la onda P y el peso corporal en niños normotensos e hipertensos, entre 8 y 11 años. Método: Se estudiaron 358 niños, de 543. Se excluyeron aquellos cuyos padres no desearon que participaran en el estudio y los que tenían enfermedades congénitas conocidas. Se realizó electrocardiograma de superficie de doce derivaciones y se practicaron cuatro tomas de presión arterial. Se midieron los valores máximos y mínimos de la onda P, se calculó su dispersión, y se obtuvieron otras variables como el peso corporal. Resultados: Las diferencias entre los valores medios para la dispersión de la onda P entre normotensos e hipertensos, fue de 31,85 vs. 39,74 ms, respectivamente (p<0.001). Existió un aumento de la dispersión de la onda P con el aumento del peso (r=0,18 y p=0.05). Conclusiones: La dispersión de la onda P y el peso corporal muestran una correlación significativa desde la infancia en la hipertensión arterial. Existen diferencias significativas entre los valores de la dispersión de la onda P del electrocardiograma entre normotensos e hipertensos desde la infancia. / AbstractIntroduction and Objective: Atrial fibrillation is the paradigm of atrial electrical heterogeneity. The prolongation of intra and interatrial conduction and inhomogeneous propagation of electrical impulses are electrophysiological characteristics in paroxysmal atrial fibrillation. Obesity is a potential risk factor for atrial fibrillation. There are some reports about higher values of P wave dispersion in obese women. The aim was to determine the relationship between P wave dispersion and body weight in normotensive and hypertensive children between 8 and 11 years old. Method: 358 children from a total of 543 were studied. Those whose parents did not want them to participate in the study and those who had known congenital diseases were excluded. A 12-lead surface ECG and 4 blood pressure measurements were conducted. Maximum and minimum P values were measured and P wave dispersion in the electrocardiogram was calculated. Other variables such as body weight were also obtained. Results: The difference between mean values for P-wave dispersion between normotensive and hypertensive patients was 31.85 ms vs 39.74 ms, respectively, p <0.001. There was an increased dispersion of P wave with weight gain, r = 0.18 p = 0.05. Conclusions: In hypertensive patients, P-wave dispersion and weight show a significant correlation since childhood. There are significant differences between P wave dispersion values of the electrocardiogram between normotensive and hypertensive populations since childhood

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families-Performed in 12 Clinical Laboratories in Spain

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; &lt; 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of &lt;59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Journal Article; Multicenter Study;Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling.Ye