Familial seborrhoeic keratosis associated with multiple 'pure reticulated acanthomas' and infundibulocystic basal cell carcinomas.

BACKGROUND: A variety of genodermatoses with multiple cutaneous tumours and germline genetic alterations, such as PTCH1 mutations, have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVES: To describe the clinical, dermoscopic and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas (ICBCCs) and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in FGFR3 and PTCH1. METHODS: Ten members of one family were clinically examined and 92 skin biopsy specimens were evaluated. Blood samples from six individuals were analysed for FGFR3 and PTCH1 germline alterations. We reviewed the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis. RESULTS: Individuals of all generations affected by familial seborrhoeic keratosis also presented other skin tumours that corresponded histologically to reticulated acanthomas without apocrine or sebaceous differentiation, as well as ICBCCs. In addition, two novel germline variants, p.Pro449Ser (c.1345C>T) in FGFR3 and p.Pro725Ser (c.2173C>T) in exon 14 of PTCH1 were identified in five participants. CONCLUSIONS: We characterize for the first time the clinical, dermoscopic and histopathological features of multiple reticulated acanthomas without apocrine or sebaceous differentiation, for which we propose the term 'pure reticulated acanthoma', and ICBCCs associated with familial seborrhoeic keratosis. We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown.

Morphologic Features on MR Imaging Classify Multifocal Glioblastomas in Different Prognostic Groups.

BACKGROUND AND PURPOSE: Multifocal glioblastomas (ie, glioblastomas with multiple foci, unconnected in postcontrast pretreatment T1-weighted images) represent a challenge in clinical practice due to their poor prognosis. We wished to obtain imaging biomarkers with prognostic value that have not been found previously. MATERIALS AND METHODS: A retrospective review of 1155 patients with glioblastomas from 10 local institutions during 2006-2017 provided 97 patients satisfying the inclusion criteria of the study and classified as having multifocal glioblastomas. Tumors were segmented and morphologic features were computed using different methodologies: 1) measured on the largest focus, 2) aggregating the different foci as a whole, and 3) recording the extreme value obtained for each focus. Kaplan-Meier, Cox proportional hazards, correlations, and Harrell concordance indices (c-indices) were used for the statistical analysis. RESULTS: Age (P < .001, hazard ratio = 2.11, c-index = 0.705), surgery (P < .001, hazard ratio = 2.04, c-index = 0.712), contrast-enhancing rim width (P < .001, hazard ratio = 2.15, c-index = 0.704), and surface regularity (P = .021, hazard ratio = 1.66, c-index = 0.639) measured on the largest focus were significant independent predictors of survival. Maximum contrast-enhancing rim width (P = .002, hazard ratio = 2.05, c-index = 0.668) and minimal surface regularity (P = .036, hazard ratio = 1.64, c-index = 0.600) were also significant. A multivariate model using age, surgery, and contrast-enhancing rim width measured on the largest foci classified multifocal glioblastomas into groups with different outcomes (P < .001, hazard ratio = 3.00, c-index = 0.853, median survival difference = 10.55 months). Moreover, quartiles with the highest and lowest individual prognostic scores based on the focus with the largest volume and surgery were identified as extreme groups in terms of survival (P < .001, hazard ratio = 18.67, c-index = 0.967). CONCLUSIONS: A prognostic model incorporating imaging findings on pretreatment postcontrast T1-weighted MRI classified patients with glioblastoma into different prognostic groups.

[Measurement of the posterior wall of the intermediate bronchus. Diagnostic value]. / Mensurations de la paroi postérieure de la bronche intermédiaire. Intérêt diagnostic.

The posterior wall of the intermediate bronchial trunk (PWIB) is visible in most cases on profile thoracic radiographs. A retrospective study showed that it is thickened (over 3 mm) in cases of cardiac failure, right pneumonitis, adenopathy, right bronchopulmonary neoplasias and pulmonary fibrosis, either acute or chronic. The latter etiology had not yet been described in the literature. In our experience, assessment of the thickness of the intermediate bronchus provides a reliable criterium of response to treatment. The pathological mechanisms of intermediate bronchus thickening due to an increase of bronchial wall thickness or of peribronchial interstitial tissue are discussed.

[Cesarean section on a full-term parturient with convulsive crises]. / Cesárea en una gestante a término con crisis convulsivas.

A 34-years-old woman in her 35th week of pregnancy experienced epileptic seizures and underwent emergency cesarean delivery of a healthy boy under general anesthesia. The patient had no history of epilepsy and the seizures were later attributed to an intracerebral cavernous angioma. She received treatment with phenytoin and was asymptomatic 3 months later. Although seizures unrelated to preeclampsia or eclampsia in pregnancy are rare, differential diagnosis must determine the etiology of the crisis.

¿Cuál es el manejo óptimo de la leiomiomatosis peritoneal diseminada? Un caso clínico con 15 años de seguimiento sin malignización / What is the optimal management of disseminated peritoneal leiomyomatosis? A case report with 15 years of follow-up without malignancy

Introducción: La leiomiomatosis peritoneal diseminada (LPD), se trata de una enfermedad benigna, que se define por la presencia de múltiples nódulos diseminados en el peritoneo de diferentes tamaños compuestos por haces de células de músculo liso. Se postulan varias teorías sobre su origen relacionadas con el estímulo hormonal, la susceptibilidad genética y la iatrogenia tras cirugías como las miomectomías por vía laparoscópica. Hallazgos clínicos: Las pacientes suelen presentar molestias abdominales de diversa índole, incluso puede cursar de forma asintomática siendo un hallazgo casual en pruebas de imagen. Diagnósticos principales: En el diagnóstico diferencial se suelen incluir la carcinomatosis, la endometriosis, la endosalpingiosis, los tumores del tracto gastrointestinal o el leiomiosarcoma. Intervenciones terapéuticas: No hay suficiente evidencia acerca de cuál es el mejor abordaje, algunos optan por manejo expectante o tratamientos médicos y otros abogan por un manejo quirúrgico más radical. Dentro de los tratamientos médicos, uno de los más usados son los agonistas de la GnRH, también se han utilizado con buenos resultados inhibidores de la aromatasa y los moduladores selectivos de los receptores de progesterona como el acetato de ulipristal. Resultados: En este caso presentamos una paciente con LPD con 15 años de seguimiento en nuestro hospital, sin evidencia de malignización. Conclusión: Conociendo la naturaleza generalmente benigna de esta enfermedad, es necesario optar por el abordaje menos invasivo posible. Se desconoce la evolución a largo plazo de esta enfermedad, pues la mayoría de casos publicados no tienen suficiente tiempo de seguimiento.

Introduction: Disseminated peritoneal leiomyomatosis (DPL) is a benign pathology, defined by the presence of multiple disseminated nodules in the peritoneum of different sizes composed of bundles of smooth muscle cells. Several theories are postulated about its origin related to hormonal stimulus, genetic susceptibility and iatrogenesis after surgeries such as laparocopic myomectomies. Clinical findings: Patients usually present with abdominal discomfort of various kinds, and it may even be asymptomatic, being an incidental finding on imaging tests. Main diagnoses: The differential diagnosis usually includes carcinomatosis, endometriosis, endosalpingiosis, tumours of the gastrointestinal tract or leiomyosarcoma. Therapeutic interventions: There is insufficient evidence about the best approach, with some advocating expectant management or medical treatment and others advocating more radical surgical management. Among medical treatments, one of the most widely used are GnRH agonists, aromatase inhibitors and selective progesterone receptor modulators such as ulipristal acetate have also been used with good results. Results: In this case we present a patient with LPD with 15 years of follow-up in our hospital, with no evidence of malignancy. Conclusion: Knowing the generally benign nature of this disease, it is necessary to opt for the least invasive approach possible. The long-term evolution of this disease is unknown, as most published cases do not have sufficient follow-up time.(AU)

Safety auxiliary feedback element for the artificial pancreas in type 1 diabetes.

The artificial pancreas aims at the automatic delivery of insulin for glycemic control in patients with type 1 diabetes, i.e., closed-loop glucose control. One of the challenges of the artificial pancreas is to avoid controller overreaction leading to hypoglycemia, especially in the late postprandial period. In this study, an original proposal based on sliding mode reference conditioning ideas is presented as a way to reduce hypoglycemia events induced by a closed-loop glucose controller. The method is inspired in the intuitive advantages of two-step constrained control algorithms. It acts on the glucose reference sent to the main controller shaping it so as to avoid violating given constraints on the insulin-on-board. Some distinctive features of the proposed strategy are that 1) it provides a safety layer which can be adjusted according to medical criteria; 2) it can be added to closed-loop controllers of any nature; 3) it is robust against sensor failures and overestimated prandial insulin doses; and 4) it can handle nonlinear models. The method is evaluated in silico with the ten adult patients available in the FDA-accepted UVA simulator.

Calculation of the best basal-bolus combination for postprandial glucose control in insulin pump therapy.

Intensive insulin therapy in type 1 diabetes is based on the well-established practice of adjusting basal and bolus insulin independently. Basal insulin delivery is designed to optimize glucose concentrations between meals and overnight, while bolus insulin delivery is designed to optimize postprandial glucose concentrations. However, this strategy shows some limitations in the postprandial glucose control, especially for meals with high carbohydrate content. Strategies based on coordinating basal and bolus insulin in the postprandial period help in overcoming these limitations. An algorithm, based on mathematically guaranteed techniques (interval analysis), is presented in this paper. It determines, given the current glycemic state of the patient and the meal to be ingested, a basal-bolus combination that will yield a tight postprandial glycemic control according to the International Diabetes Federation guidelines. For a given meal, the algorithm reveals which bolus administration mode will enable a good postprandial performance: standard, square-wave, dual-wave, or temporal basal decrement. The algorithm is validated through an in silico study using the 30 subjects in the educational version of the Food and Drug Administration accepted University of Virginia simulator.

[Treating iatrogenic pneumothorax with small-bore chest tube]. / Drenaje de neumotórax iatrogénico con catéter de calibre pequeño.

OBJECTIVE: To evaluate the feasibility of small-bore chest tube placement to treat pneumothorax caused by percutaneous procedures. MATERIAL AND METHODS: Between November 2004 and July 2006 we performed 151 interventional chest procedures (127 biopsies and 24 radiofrequency ablations) in 131 patients (25 women and 106 men; mean age, 63 years, range, 36-83 years). Fine needles (21-25 G) were used in 70 procedures and large core needles (14-20 G) were used in the remaining 81. Pneumothorax occurred in 16 diagnostic procedures (13 of these were treated with small-bore catheter placement) and in two radiofrequency procedures (both cases were treated with small-bore catheter placement). Chest tubes were placed immediately after pneumothorax occurred in all cases because the pneumothorax was greater than 20% or caused symptoms or occurred in patients with emphysema. RESULTS: Chest tubes were successfully placed without incidents in all cases and a Heimlich valve evacuated the air completely. Mean hospital stay was 43 hours (range, 24-72 hours). It was not necessary to place a larger-bore chest tube in any case. CONCLUSION: Small-bore chest tube placement is the treatment of choice for iatrogenic pneumothorax greater than 20% or less than 20% when symptomatic or occurring in patients with emphysema. The procedure is easy, effective, and well tolerated; furthermore, it shortens the hospital stay. The effectiveness of the procedure makes it possible to safely perform percutaneous procedures on patients with emphysema or difficult lesions and to finish an interventional procedure when pneumothorax occurs.

Dermatomiofibroma lineal / Linear dermatomyofibroma

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[The evaluation of lower limb arteriopathy by multidetector computed tomography compared with digital subtraction angiography]. / Evaluación de la arteriopatía de los miembros inferiores por tomografía computarizada multidetector comparada con la angiografía por sustracción digital.

OBJECTIVE: To evaluate the diagnostic efficacy of multidetector computed tomography angiography (MDCTA) in lower limb arteriopathy (LLA) by comparing it with digital subtraction angiography (DSA). MATERIAL AND METHODS: Twenty-four patients with LLA were studied. All patients underwent MDCTA (four detectors) and DSA, with double reading between the two techniques. Vascular territories were divided to facilitate analysis. Sensitivity (S), specificity (Sp), prevalence, positive and negative predictive values (PPV, PNV), and concordance (Kappa test) were evaluated. In third-portion arteries, the diagnostic performance of MDCTA was evaluated using an ROC curve. RESULTS: MDCTA study to evaluate arterial pathology showed: Lower sensitivity in the study of the internal iliac artery (S: 0.65 and 0.71) with Sp 0.94 and 1. In the other vascular territories, S approached 1, with a slight decrease in Sp. Concordance with DSA was very high (kappa between 0.62 and 1) in all of the territories studied. MDCTA showed greater vessel longitude than DSA. In the third portion, the best diagnostic performance (ROC) was obtained in the reading of pathological vessels. CONCLUSION: MDCTA was highly reliable in the study of LLA, with high concordance with DSA. In tortuous vessels, MDCTA depicted the lesions poorly; however, in straight vessels and third-portion vessels, MDCTA showed more vascular segments.

Diagnostic value of CD34 immunostaining in desmoplastic trichilemmoma.

Desmoplastic trichilemmoma (DT) is a variant of trichilemmoma, characterized by a central prominent desmoplastic component which may simulate invasive carcinoma. We have studied the morphologic and immunohistochemical features of seven cases of DT. Immunohistochemistry was performed on paraffin sections using monoclonal antibodies to CD34 (QBEND/10), vimentin and GCDFP-15. CD34 was also tested in seven cases of basal cell carcinoma (BCC), three with outer root sheath differentiation and four with morphea-form features, and five squamous cell carcinomas. Histologically, features of conventional trichilemmoma were seen at the periphery of the seven lesions. In contrast, at the center, the epithelial cells tended to cluster in narrow irregular cords and nests entrapped in a dense collagenous stroma. One case of DT coexisted with a BCC. In all cases of DT, epithelial tumor cells showed CD34 immunostaining. All cases of BCC, including the one contiguous to a DT, were CD34 negative. CD34 immunodetection in the epithelial cells of the pseudoinvasive component of DT may be of great value in the differential diagnosis with other desmoplastic tumors of the skin, and particularly with BCC.

Acute aluminum encephalopathy in an uremic patient.

A patient on maintenance hemodialysis developed an acute encephalopathy closely related to a rapid increase in serum aluminum levels. Aluminum hydroxide and sucralfate had been given in large amounts for the treatment of a gastrointestinal bleeding episode. The breach of the gastrointestinal barrier to aluminum absorption, the increase in gastric pH caused by cimetidine, and the presence of gastric telangiectasia acting together in a uremic patient could have precipitated the acute aluminum encephalopathy.

Cutaneous sclerosing Pacinian-like perineurioma.

AIMS: The term perineurioma has been used to designate a variety of clinically and histologically different proliferations of perineurial cells based on immunohistochemical and/or ultrastructural characterization. There are two different groups of neoplasms derived from perineurial cells: extraneural or soft tissue perineuriomas, and intraneural perineuriomas. Recently, a sclerosing variant of cutaneous perineurioma has been described. METHODS AND RESULTS: We report a case of a cutaneous form of perineurioma, combining features of the intraneural and sclerosing varieties, as well as showing a Pacinian pattern of growth. In order to assess the neoplastic nature of the lesion, we performed fluorescence in-situ hybridization (FISH) analysis using a probe which maps to the chromosome band 22q11 and 22q13, allowing us to show deletion or loss of one chromosome 22 in the tumour cells. CONCLUSIONS: This case may be considered a new variant of perineurioma with Pacinian-like features, for which we propose the designation 'sclerosing Pacinian-like perineurioma'.

A lichen striatuslike eruption adopting the morphology of Blaschko lines.

A 15-month-old girl had orange papules that formed V-shaped lines on her back. The clinical evolution and histology were compatible with the diagnosis of a lichen striatus-like eruption, adopting a special morphology by following Blaschko lines.

Xanthelasmoid mastocytosis.

An 8-year-old girl had small, papular vulval lesions for six years; the lesions were yellowish with numerous surface depressions. Symptoms due to the action of mastocyte mediators were observed. A biopsy specimen showed a dense monomorphous infiltrate of the deep dermis by rounded cells with granular cytoplasm and a round or oval central nucleus. The morphology of the lesions and red-purple metachromatic staining led to the diagnosis of xanthelasmoid mastocytosis. Symptoms were controlled with hydroxyzine. Annual follow-up has shown no evidence of systemic involvement to date. Surgery should be contemplated as a future therapeutic option, in view of the location of the lesions.

Eccrine angiomatous hamartoma: report of three patients.

Eccrine angiomatous hamartoma is a rare, benign entity. The histologic features include proliferation of eccrine sweat glands and angiomatous capillary channels. We report three children who each had a single lesion on a limb. These lesions were clinically angiomatous, and we obtained the diagnosis by histologic and immunohistochemical studies.