Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.

BACKGROUND: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed. OBJECTIVES: The aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP. MATERIALS AND METHODS: We studied a total of 10 SPTCL and 10 LEP patients using targeted next-generation sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained. RESULTS: The mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes. CONCLUSIONS: The mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

[Diagnostic value of the gonadal biopsy in the disorders of sex development]. / Valor de la biopsia gonadal en el diagnóstico de los desórdenes del desarrollo sexual.

The gonadal biopsy provides essential information for the identification, classification and early detection of neoplasias in patients with disorders of sex development. Histopathological findings in these cases must be analysed together with clinical, hormonal, genetic and molecular information before deciding a therapeutic option. Sexual differentiation is the result of multiple and complex genetic and endocrinal mechanisms; therefore, we first present the events taking place during gonadal embryonic development, focusing on the genetic mechanisms involved in sexual determination and the differentiation of the testis and the urogenital tract. In second place, we describe the different gonads in the intersexual states -in testicular regression syndrome, fibrous streak, testicular dysgenesis, streak testes, ovotestes and microscopically normal testes and ovaries-, highlighting the histological features and the differential findings that allow the pathologist to distinguish between these entities with the aid of clinical, genetic, hormonal and molecular information that are characteristic for each situation. In third place, we studied the incidence of neoplasias in gonadal dysgenesis, male pseudohermaphroditism and true hermaphroditism. Finally, we discuss the limitations of gonadal biopsy to achieve a correct diagnosis in the disorders of sex development.

"Abnormal" salt and solvent effects on anion/cation electron-transfer reactions: an interpretation based on Marcus-Hush treatment.

Salt and solvent effects on the kinetics of the reactions [Fe(CN)6]3- + [Ru(NH3)5pz](2+) right arrow over left arrow [Fe(CN)6]4- + [Ru(NH3)5pz]3+ (pz = pyrazine) have been studied through T-jump measurements. The forward and reverse reactions show different behaviors: "abnormal" salt and solvent effects in the first case and normal effects in the second one. These facts imply an asymmetric behavior of anion/cation reactions depending on the charge of the oxidant. The results can be rationalized by using the Marcus-Hush treatment for electron-transfer reactions.

[Reliability of digital coronary quantification in a hemodynamic laboratory. Comparison with a film-based system]. / Fiabilidad de la cuantificación coronaria digital realizada en el laboratorio de hemodinámica. Comparación con un sistema basado en película.

BACKGROUND AND OBJECTIVES: Quantitative coronary angiography can be performed in two ways: on-line during catheterism, and off-line once the procedure is finished. Consequently, several studies have been published comparing both systems. Nevertheless, none of them has compared the measurements made off-line with those acquired on-line by the hemodynamist in charge of procedure. The objective of this study was to compare the measurements made on-line by the hemodynamist involved in the procedure with a digital system (DCI) with those obtained off-line by an independent and alien observer to the procedure by using film-based system (CMS). MATERIAL AND METHODS: Forty coronary lesions suitable for quantification were measured in a prospective fashion. They came from follow-up angiograms. Either balloon or stent were used in the previous angioplasty. Stenoses were assessed on-line and off-line by using the most severe view as judged by the hemodynamist. RESULTS: No significant differences were found for obstruction diameter, reference diameter nor percent diameter stenosis. Pearson's correlation coefficient values (r), intraclass correlation coefficient (ri), regression line equation and mean of signed differences with their standard deviations are showed: a) obstruction diameter: r = 0.83, ri = 0.83, DCI = 0.42 + 0.76 x CMS, -0.01 +/- 0.42 mm; b) reference diameter: r = 0.72, ri = 0.69, DCI = 1.29 + 0.61 x CMS, 0.003 +/- 0.38 mm, y c) percent diameter stenosis: r = 0.86, ri = 0.86, DCI = 10.05 + 0.77 x CMS, 1.19 +/- 10.75%. CONCLUSIONS: We attained good concordance between both quantification systems under clinical conditions. In our opinion these results support the use of on-line quantification as a reliable tool for clinical decision making in the catheterization laboratory.

[Pulmonary valvuloplasty in children with cyanotic cardiopathy]. / Valvuloplastia pulmonar en niños con cardiopatías cianóticas.

We present 5 patients with cyanotic congenital heart disease in whom a pulmonary valvuloplasty was performed as palliative therapy. The patients symptoms were hypoxemic spells, very low oxygen saturation and no weight gain. The oxygenation improved and symptoms disappeared. We believe that in properly selected patients this technique represents a good therapeutic modality.

[Continuous practice and advanced training in interventional cardiology. Recommendations for the assessment and maintenance of proficiency in interventional cardiology. A statement for physicians and advanced training units from the Section of Hemodynamics and Interventional Cardiology of the Spanish Society of Cardiology]. / Práctica continuada y enseñanza avanzada en cardiología intervencionista. Recomendaciones de la Sección de Hemodinámica y Cardiología Intervencionista de la Sociedad Española de Cardiología para la capacitación y recapacitación de cardiólogos intervencionistas y unidades de formación.

This report reflects the interest of the Section of Hemodynamics and Interventional Cardiology of the Spanish Society of Cardiology in increasing quality, safety and applicability of percutaneous procedures, by giving scientific keys aimed at improving related functions of teaching or planning in this field and enhancing competence and prestige of Spanish interventional cardiologists. The purpose of the document is to describe the importance of current interventional cardiology, to identify quality references and to establish minimum acceptable requirements for assessing and maintaining the competence of practicing or providing advanced training in this discipline. To achieve this goal, a search for a gold standard of the different techniques of general interventional practice was carried out, and predictors of postprocedural outcome were analyzed, as well as their relation with different kinds of circumstances. This analysis identified coronary angioplasty as the standard on which recommendations regarding competence in overall interventional cardiology standards of quality and assessment and maintenance of proficiency must be based. On the other hand, the strong influence of experience and knowledge of results has been documented, especially in high-risk or high-complexity settings. On this basis, the report establishes specific recommendations about proficiency for practice and advanced training. It also suggests that interventional cardiology should be considered as a subspecialty, of cardiology requiring specific credentials.

[Guidelines of clinical practice of the Spanish Society of Cardiology. Requirements and equipment of invasive techniques in pediatric cardiology: clinical application]. / Guías de actuación clínica de la Sociedad Española de Cardiología. Requerimientos y equipamiento de las técnicas invasivas en cardiología pediátrica: aplicación clínica.

Invasive techniques in pediatric cardiology have experienced a big change since the 80's. The growth of non-invasive methods for diagnosing congenital heart defects has made the number of diagnostic catheterizations decrease remarkably. On the other hand, the notable development of pediatric interventional catheterization techniques will allow that, in the near future, the number of therapeutic catheterizations overcomes the diagnostic ones in our country. The former are more difficult and dangerous, so they require experienced and skilled hands and more economic resources. This chapter is divided in three main sections: I) Requirements and equipment needed for pediatric invasive techniques; II) Current indications, contraindications and complications of the diagnostic catheterization, and III) Techniques, indications and results of pediatric therapeutic catheterization: current state. Likewise, we state the suitability or not for these therapeutic procedures in different cardiac anomalies.

[The myxoma syndrome: "cardiac myxoma, cutaneous pigmented lesions and peripheral and endocrine neoplasms". Apropos 2 cases]. / Síndrome mixoma: "Mixoma cardíaco, lesiones pigmentadas cutáneas y tumores periféricos y endocrinos". A propósito de dos casos.

We present two cases, mother and son, with "syndrome myxoma". Both had cardiac myxoma and cutaneous pigmented lesions. The son had a cutaneous myxoma and the mother had been diagnosed as having Cushing's syndrome caused by adrenal adenoma. The "syndrome myxoma" is a systemic disease which causes cardiac, cutaneous, and breast myxomas, adrenal disease, testicle and pituitary tumours. Whenever it is diagnosed all first relatives should be tested for the syndrome. The patient should be re-examined every six-twelve months, due to frequent recurrence of cardiac myxoma.

[Necrotizing enterocolitis: a 10-year survey]. / Enterocolitis necrotizante: revisión de 10 años.

We reviewed the records of all infants with necrotizing enterocolitis (NEC) who had been diagnosed in "Teresa Herrera" Hospital in La Coruña between 1984 and 1994. We tried to determine the risk factors that could influence at the beginning of the disease, the clinic presentation, and the basic aspects of treatment. All cases of ECN with clinic-radiologic confirmation were examined (Bell stages II and III). With this approach, a general questionnaire containing records, clinical presentation, and treatment, was applied to all cases. In our revision, we found that neonate most at risk is that one with an average gestational age of 35 weeks, a mean weight of 2500 gr., with a laborious delivery and who was admitted in the neonatal intensive care unit for an important disease. The onset of NEC was more frequent in the first 15 days of life, and clinical and radiological features were used to confirm the disease. In 86% of the cases, oral feeding had begun. Surgery was needed in 36% of the cases, of which 86% suffered from gut perforation, terminal ileum being the most frequent localization. The general mortality was 12%. Only one of the operated patient died. We conclude that in the appearance of NEC there are a lot of influential factors, including perinatal stress, prematurity and a low birth weight. Clinical symptoms are haemodynamic instability, abdominal distension and bloody stools, obtaining confirmation through radiology in 87%. We consider the importance of early diagnosis and treatment and exhaustive observation by children's surgeon to indicate early surgery.

[Outcome of anatomical correction of transposition of the great vessels in the neonatal period]. / Resultados de la corrección anatómica en la transposición de las grandes arterias en el periodo neonatal.

Between february 1992 to January 1994, anatomic correction was performed on 15 patients with transposition of the great arteries and intact ventricular septum. The mean age was 8.3 +/- 2.9 days and the mean weight 3.39 +/- 0.39 Kg. Before the operation, 13 patients (86.6%) received prostaglandin El infusion and 13 patients (86.6%) underwent Rashkind septostomy. Mean aortic cross-clamps was 56 +/- 11 minutes and mean cardiopulmonary bypass was 108 +/- 91 minutes. Hospital mortality rate was 13%. Mean extubation period was mean discharge from ICU was 13.1 +/- 12.3 days and discharge of hospital was 17.8 +/- 7.5 days. The mean followup period was 11.4 months. All the patients remained asymptomatic with adequate psychomotor and ponderal development. All patients remained in sinus rhythm. Pulmonary suture gradient was over 60 mm Hg in five patients (33%). One patient needed reintervention and four pulmonary artery angioplasty (PAA) that was successful. In the midterm follow-up pulmonary stenosis suture was the most common complication. If the stenosis is severe and PAA should be the initial approach.

[Diagnosis of tumor invasion of the cartilage in neoplasm of the larynx using computed tomography]. / Diagnóstico de la invasión tumoral del esqueleto cartilaginoso en las neoplasias laríngeas mediante tomografía computada (TC).

The demonstration of the tumoral invasion of the cartilaginous structure of the larynx is a fact that contraindicates any conservative treatment, either surgical or radiotherapeutic. The usual methods of clinical exploration, such as direct or indirect laryngoscopy or fiberoptic laryngoscopy are not very useful, as well as conventional radiology which presents little sensitivity to defect tumoral invasion. It has been communicated previously that computerised tomography (CT) is more sensitive. In our evaluation of these different diagnostic methods, we present a series of 51 patients with laryngeal cancer at different stages in a hom studies prior to surgery using computerised tomography (CT) have been realised. We evaluate the efficacy of his diagnostic method in the tumoral invasion of the laryngeal backbone. Results have been analysed, demonstrating that this method is superior to other techniques used.

[Rhinocerebral mucormycosis]. / Mucormicosis rinocerebral.

Mucormycosis is unusual in ORL pathology. We present a case of a 53-year-old patient in the dialysis program for the past 6 years for renal insufficiency. Starting with some trouble in the left lacrimal region, he was diagnosed by his ophthalmologist as having deep dacryocystitis, appearing as an ulcero-necrotic lesion on the same side of the nasal dorsum. In the presumption of clinical mucormycosis, a microbiological and histological study was done to confirm the diagnosis, starting treatment with amphotericin B. Because of the rapid extension of the lesion, surgical debridement of the zone was done but his evolution was bad, lapsing into a coma and requiring a neurosurgical operation for intracranial complications. The patient died 12 days after admission. For that reason we did an evaluation of the problem and also a review of the literature.

[Rhinoscleroma. A case report]. / Rinoescleroma. A propósito de un caso.

Rhinoscleroma is a chronic, specific, inflammatory granulomatous condition of the nose and other structures of the upper respiratory tract. It is caused by the bacterium Klebsiella rhinoscleromatis. We report a case in a 29-year-old black male emigrant who consulted for a 2-year history of hoarseness, cough, and nasal discharge. The diagnosis was scleroma with nasal, laryngeal, tracheal, and bronchial involvement and ulcerating and necrotizing lesions that caused respiratory obstruction. Bacterial over-infection responded to treatment with third-generation cephalosporins and clindamycin. The sclerotic lesions responded well to treatment with ciprofloxacin. We review the clinical findings at different stages, diagnostic options, and several treatments.