Surgical timing and complications, with body image, quality of life, sexual function and genital sensation in patients with congenital adrenal hyperplasia.

INTRODUCTION: The aim of this project was to document the long-term outcomes relating to sexual function, genital sensation, body image and quality of life, in an Australian cohort of adolescent and adult women with congenital adrenal hyperplasia (CAH) who have undergone feminising genitoplasty in infancy, childhood or adolescence. MATERIALS AND METHODS: Identification and follow-up of women with CAH aged 12-40 years who had their first feminising genitoplasty or ongoing management at a single tertiary referral center with multidisciplinary care (n = 80). Medical records were reviewed for Prader stage, and operative outcomes. The prospective component of the study included tracing indivudals aged 12-40 years (n = 69), of whom 34 were contactable. Twenty-one responded to the invitation to participate in the study, completing some or all of a series of validated standardized questionnaires and/or participation in examination of external genital with sensation testing. Results were compared to a control population of similar age distribution (n = 23). RESULTS: The median Prader stage was 3, median age at surgery was four months, median hospital stay of three days with 80 % of surgery undertaken by one surgeon. There was one major and eight minor complications. Re-operation rates were low. There was no difference between participants and controls in terms of sexual function, quality of life, or body image outcomes including genital appearance. Participants had increased sensitivity to soft touch on genital sensation testing compared to controls. Most participants (71 %) reported that early timing of surgery was 'good', four (19 %) felt their surgery was too late, one felt their surgery was too early, and one was unsure. Most were happy with the outcome of their surgery. DISCUSSION: Outcomes after feminising genitoplasty are mixed and influenced not only by the surgery itself, but also the ongoing management of the condition alongside each patient's own cultural and social context. At present there is no comparative data available on the sexual, mental, body image and quality of life outcomes of young females with CAH who have had their operation delayed until adulthood. Our study is limited by low participant response rate, and difficulty recruiting 1:1 control population for all participants, but nevertheless provides some insight into the outcomes of these patients for which limited data is available. CONCLUSION: In the population studied feminising genitoplasty in infancy and childhood had overall positive outcomes. This occurred in a tertiary center with expert multidisciplinary individualised care.

[Atypical femoral fractures due to the use of bisphosphonates. Experience of two institutions]. / Fracturas femorales atípicas por el uso de bifosfonatos. Experiencia de dos instituciones.

INTRODUCTION: bisphosphonates are used for the management of postmenopausal osteoporosis with high risk of fracture, glucocorticoid-induced osteoporosis, Paget's disease and hypercalcemia; as well as an adjuvant for the management of hyperparathyroidism. Bisphosphonates have been associated with previously unknown adverse effects, including atypical femur fractures. OBJECTIVE: to analyze the relationship of the history of bisphosphonate (BF) use as a risk factor for presenting atypical femur fractures (AFF). MATERIAL AND METHODS: patients aged 40 years or older from two hospital centers seen from 2009 to 2018 for femur fracture were included. The radiographic studies of 441 records were reviewed, from which the fracture site was defined. Subtrochanteric (SF) and diaphyseal (DF) femur fractures were analyzed applying the criteria of the second report of the American Society for Bone and Mineral Research for case definition of AFF. Finally, the consumption of bisphosphonates in these groups was investigated to estimate a measure of association. RESULTS: of the 441 clinical records, 98 (22.2%) were male and 343 (77.7%) were female with a mean age of 77.8 (40-103) years. Fifty-nine FS/FD were identified, of which 53% (31 records) were categorized as AFF. BF use was determined in 80.6% of patients with AFF and 3.57% in FS/FD. BF use was significantly associated with the presence of AFF (OR: 112, p 0.000, CI 95%: 12.6-1001). CONCLUSIONS: BF use significantly increases the risk of presenting AFF. AFF in patients who used BF occurred after a minimum consumption of 24 months.

INTRODUCCIÓN: los bifosfonatos se usan para el manejo de osteoporosis postmenopáusica con riesgo elevado de fractura, osteoporosis inducida por glucocorticoides, enfermedad de Paget e hipercalcemia; así como coadyuvante para manejo del hiperparatiroidismo. Los bifosfonatos se han asociado a efectos adversos previamente desconocidos dentro de los que se encuentran fracturas de fémur de trazo atípico. OBJETIVO: analizar la relación del antecedente de uso de bifosfonatos (BF) como factor de riesgo para presentar fracturas atípicas de fémur (FAF). MATERIAL Y MÉTODOS: se incluyeron pacientes de 40 años o más de dos centros hospitalarios atendidos desde 2009 a 2018 por fractura de fémur. Se revisaron los estudios radiográficos de 441 registros, de los cuales se definió el sitio de fractura. Se analizaron las fracturas de fémur subtrocantéricas (FS) y diafisarias (FD) aplicando los criterios del segundo reporte de la American Society for Bone and Mineral Research para la definición de caso de FAF. Finalmente, se indagó el consumo de bifosfonatos en estos grupos para para estimar una medida de asociación. RESULTADOS: de los 441 registros clínicos, 98 (22.2%) fueron del sexo masculino y 343 (77.7%) del femenino, con edad promedio de 77.8 (40-103) años. Se identificaron 59 FS/FD, de las cuales 53% (31 registros) fueron catalogadas FAF. El consumo de BF se determinó en 80.6% de pacientes con FAF y en 3.57% con FS/FD. El uso de BF se asoció significativamente con la presencia de FAF (OR: 112, p 0.000, IC 95%: 12.6-1001). CONCLUSIONES: el uso de BF aumenta significativamente el riesgo de presentar FAF. Las FAF en pacientes que usaron BF se presentó tras un consumo mínimo de 24 meses.

Estudio WAKE de vida real en pacientes con narcolepsia con cataplejía tratados con pitolisant no respondedores a tratamientos previos / Real-life WAKE study in narcolepsy patients with cataplexy treated with pitolisant and unresponsive to previous treatments

Introducción: La narcolepsia de tipo 1 es una enfermedad incapacitante que requiere tratamiento continuo, que no siempre es eficaz. El pitolisant es un nuevo fármaco con un mecanismo de acción diferente que ofrece una nueva opción de tratamiento. El objetivo del estudio fue analizar la efectividad y la seguridad del pitolisant en pacientes con narcolepsia de tipo 1 que no hubieran respondido o tolerado previamente los tratamientos habituales. Pacientes y métodos: Estudio observacional descriptivo multicéntrico de vida real que incluyó a pacientes diagnosticados de narcolepsia de tipo 1 no respondedores a tratamientos previos que iniciaron tratamiento con pitolisant. El estudio evaluó tres momentos: el inicio del tratamiento, la estabilización del tratamiento con pitolisant y los tres meses posteriores. Resultados: En 32 pacientes incluidos (media de edad, 44 años; 37,5% de mujeres), la media de la escala de somnolencia de Epworth se redujo de 17,1 a 13,5; un 47,8% de los pacientes mejoró subjetivamente de su cataplejía; un 65% de los pacientes mejoró su impresión clínica global a criterio médico y a criterio del paciente; y se redujo la media de medicamentos consumidos de 2,0 a 1,4. El efecto adverso más frecuente fue el insomnio, en un 43,8% de los pacientes. De los 32 pacientes, 23 mantuvieron el tratamiento durante los tres meses de seguimiento. Conclusiones: En pacientes con narcolepsia de tipo 1 que no responden a o no toleran los tratamientos disponibles, el pitolisant puede mejorar su situación clínica y reducir su consumo de medicamentos. Son necesarios estudios de mayor nivel de evidencia para confirmar estos resultados.(AU)

INTRODUCTION: Type 1 narcolepsy is a disabling disease that requires continuous treatment, which is not always effective. Pitolisant is a new drug with a different mechanism of action that offers a new treatment option. The objective of the study was to analyse the effectiveness and safety of pitolisant in patients with type 1 narcolepsy that did not respond to or tolerate previous standard treatments. PATIENTS AND METHODS: Real-life multicentre descriptive observational study that included patients diagnosed with type 1 narcolepsy who did not respond to or tolerate previous treatments and started treatment with pitolisant. The study evaluated three different moments: the start of treatment, the stabilization of treatment with pitolisant and the three months after. RESULTS: In 32 patients included (mean age, 44 years; 37.5% women) the mean of the Epworth Sleepiness Scale was reduced from 17.1 to 13.5; 47.8% of the patients improved from their cataplexy; 65% of the patients improved their clinical global impression at the physician’s and at the patient’s discretion and the mean number of medications consumed was reduced from 2.0 to 1.4. The most frequent adverse effect was insomnia in 43.8% of patients. Of the 32 patients, 23 continued with the treatment during the 3-month follow-up period. CONCLUSIONS: In patients with type I narcolepsy who do not respond to or do not tolerate the available treatments, pitolisant can improve their clinical situation and reduce their medication consumption. Studies with a higher level of evidence are needed to confirm these results.(AU)

[Real-life WAKE study in narcolepsy patients with cataplexy treated with pitolisant and unresponsive to previous treatments]. / Estudio WAKE de vida real en pacientes con narcolepsia con cataplejía tratados con pitolisant no respondedores a tratamientos previos.

INTRODUCTION: Type 1 narcolepsy is a disabling disease that requires continuous treatment, which is not always effective. Pitolisant is a new drug with a different mechanism of action that offers a new treatment option. The objective of the study was to analyse the effectiveness and safety of pitolisant in patients with type 1 narcolepsy that did not respond to or tolerate previous standard treatments. PATIENTS AND METHODS: Real-life multicentre descriptive observational study that included patients diagnosed with type 1 narcolepsy who did not respond to or tolerate previous treatments and started treatment with pitolisant. The study evaluated three different moments: the start of treatment, the stabilization of treatment with pitolisant and the three months after. RESULTS: In 32 patients included (mean age, 44 years; 37.5% women) the mean of the Epworth Sleepiness Scale was reduced from 17.1 to 13.5; 47.8% of the patients improved from their cataplexy; 65% of the patients improved their clinical global impression at the physician's and at the patient's discretion and the mean number of medications consumed was reduced from 2.0 to 1.4. The most frequent adverse effect was insomnia in 43.8% of patients. Of the 32 patients, 23 continued with the treatment during the 3-month follow-up period. CONCLUSIONS: In patients with type I narcolepsy who do not respond to or do not tolerate the available treatments, pitolisant can improve their clinical situation and reduce their medication consumption. Studies with a higher level of evidence are needed to confirm these results.

TITLE: Estudio WAKE de vida real en pacientes con narcolepsia con cataplejía tratados con pitolisant no respondedores a tratamientos previos.Introducción. La narcolepsia de tipo 1 es una enfermedad incapacitante que requiere tratamiento continuo, que no siempre es eficaz. El pitolisant es un nuevo fármaco con un mecanismo de acción diferente que ofrece una nueva opción de tratamiento. El objetivo del estudio fue analizar la efectividad y la seguridad del pitolisant en pacientes con narcolepsia de tipo 1 que no hubieran respondido o tolerado previamente los tratamientos habituales. Pacientes y métodos. Estudio observacional descriptivo multicéntrico de vida real que incluyó a pacientes diagnosticados de narcolepsia de tipo 1 no respondedores a tratamientos previos que iniciaron tratamiento con pitolisant. El estudio evaluó tres momentos: el inicio del tratamiento, la estabilización del tratamiento con pitolisant y los tres meses posteriores. Resultados. En 32 pacientes incluidos (media de edad, 44 años; 37,5% de mujeres), la media de la escala de somnolencia de Epworth se redujo de 17,1 a 13,5; un 47,8% de los pacientes mejoró subjetivamente de su cataplejía; un 65% de los pacientes mejoró su impresión clínica global a criterio médico y a criterio del paciente; y se redujo la media de medicamentos consumidos de 2,0 a 1,4. El efecto adverso más frecuente fue el insomnio, en un 43,8% de los pacientes. De los 32 pacientes, 23 mantuvieron el tratamiento durante los tres meses de seguimiento. Conclusiones. En pacientes con narcolepsia de tipo 1 que no responden a o no toleran los tratamientos disponibles, el pitolisant puede mejorar su situación clínica y reducir su consumo de medicamentos. Son necesarios estudios de mayor nivel de evidencia para confirmar estos resultados.

Melanocytic lesions with peripheral globules: results of an observational prospective study in 154 high-risk melanoma patients under digital dermoscopy follow-up evaluated with reflectance confocal microscopy.

BACKGROUND: The management of melanocytic lesions with peripheral globules (MLPGs) is usually age-dependent and can be challenging in high-risk melanoma patients. OBJECTIVES: To evaluate clinical, dermoscopic and reflectance confocal microscopy (RCM) features of MLPG in patients under digital dermoscopic surveillance. To know whether dermoscopic or RCM findings correlate with histologic diagnosis and the accuracy of the dermoscopy-RCM compared with histopathology. METHODS: During 24 months, we prospectively enrolled MLPG in patients under digital dermoscopy follow-up. All were evaluated by dermoscopy and RCM and excised for histologic examination. RESULTS: We enrolled 154 patients, mean age 42.45 years (18.78-73.19). Three melanomas and 19 dysplastic naevi (DNs) were diagnosed. There were no significant differences in the age of the patients (P = 0.662). MLPGs with diameter of 6 mm or more and asymmetry in two axes were associated with melanoma (P = 0.01, P = 0.003). Patients with more than one MLPG were less likely to have melanoma. Blue-grey and red colours were more frequent in melanoma (P = 0.013 and P = 0.000). Different sizes and shapes of PG were associated with DN and melanoma (P = 0.000 and P = 0.001). In a new lesion, PG in <25% of the circumference was related to malignancy (P = 0.010). RCM signs of malignancy were related to melanoma: pagetoid cells (P = 0.000), non-edged papillae (P = 0.001), atypical junctional thickenings (P = 0.000) and atypical cells at the dermal-epidermal junction (P = 0.000). Dense irregular nests were associated to melanoma (P = 0.019). Dermoscopy and confocal evaluation were able to diagnose 100% of melanomas and 84.21% of DNs. The kappa coefficient between dermoscopy-RCM vs. histology was 0.76. CONCLUSIONS: We recommend to excise a MLPG when it presents asymmetry in two axes, 6 or more mm, new lesion with PG in less than the 25% of the circumference, irregular size and shape PGs and irregular dense nests on RCM, regardless of the patient's age.

[Massive rotator cuff injury: arthroscopic treatment with upper capsular reconstruction]. / Lesión masiva del manguito rotador: tratamiento artroscópico con reconstrucción capsular superior.

Massive rotator cuff injuries (LMMRs) are those breaks of more than 5 cm either the anteroposterior plane, or lateromedial plane. Some authors consider them to be complete ruptures of at least two rotator cuff tendons. The clinical case of a 63-year-old man with this type of injury that was resolved by the superior capsule reconstruction technique is presented, technical details and some of the literature review to carry out the procedure are shown.

Las lesiones masivas del manguito rotador (LMMR) son aquellas roturas de más de 5 cm ya sea el plano anteroposterior o lateromedial. Algunos autores las consideran como roturas completas de al menos dos tendones del maguito rotador. Se presenta el caso clínico de un varón de 63 años con este tipo de lesión que se resolvió mediante la técnica de reconstrucción de cápsula superior, se muestran detalles técnicos y un poco de la revisión de la literatura para llevar a cabo el procedimiento.

Microscopia confocal de reflectancia: una herramienta útil para diagnosticar malignidad en lesiones melanocíticas que presenten el signo de la isla / Reflectance Confocal Microscopy: A Promising Tool to Identify Malignancy in Melanocytic Lesions Exhibiting a Dermoscopic Island

El signo de la isla se define como un área bien delimitada en una lesión melanocítica, con un patrón dermatoscópico diferente al resto de la lesión. Es predictor de melanoma sobre todo cuando el patrón dermatoscópico de la isla es atípico. Presentamos las características con microscopia confocal de reflectancia (MCR) en un melanoma sobre nevus, un nevus melanocítico y un melanoma in situ con signo de la isla. El melanoma sobre nevus y el melanoma in situ, presentaban atipia celular (células atípicas aisladas y formando nidos) y distorsión arquitectural por MCR. El nevus presentaba un signo de la isla con un patrón globular típico con nidos densos sin atipia por MCR. El signo de la isla se relaciona sobre todo con melanomas in situ y melanomas sobre nevus. El MCR ofrece una buena resolución celular hasta dermis reticular, siendo útil en el diagnóstico de los melanomas con signo de la isla

The dermoscopic island is described as a well-defined area in a melanocytic lesion, with a different dermoscopic pattern from the rest of the lesion. It is predictive of melanoma, particularly when the pattern of the island is atypical. We present the reflectance confocal microscopy (RCM) findings in 3 lesions with dermoscopic islands: nevus-associated melanoma, melanocytic nevus, and in situ melanoma. The nevus-associated melanoma and in situ melanoma presented cellular atypia (atypical cells in isolation or forming nests) and architectural distortion on RCM. The nevus presented a dermoscopic island with a typical globular pattern with dense nests and no atypia on RCM. Dermoscopic island is mainly associated with in situ and nevus-associated melanomas. RCM offers good cellular resolution to the depth of the reticular dermis and is useful for diagnosing of melanomas presenting a dermoscopic island

Reflectance Confocal Microscopy: A Promising Tool to Identify Malignancy in Melanocytic Lesions Exhibiting a Dermoscopic Island. / Microscopia confocal de reflectancia: una herramienta útil para diagnosticar malignidad en lesiones melanocíticas que presenten el signo de la isla.

The dermoscopic island is described as a well-defined area in a melanocytic lesion, with a different dermoscopic pattern from the rest of the lesion. It is predictive of melanoma, particularly when the pattern of the island is atypical. We present the reflectance confocal microscopy (RCM) findings in 3 lesions with dermoscopic islands: nevus-associated melanoma, melanocytic nevus, and in situ melanoma. The nevus-associated melanoma and in situ melanoma presented cellular atypia (atypical cells in isolation or forming nests) and architectural distortion on RCM. The nevus presented a dermoscopic island with a typical globular pattern with dense nests and no atypia on RCM. Dermoscopic island is mainly associated with in situ and nevus-associated melanomas. RCM offers good cellular resolution to the depth of the reticular dermis and is useful for diagnosing of melanomas presenting a dermoscopic island.

Nevus esclerosante con rasgos seudomelanomatosos / Sclerosing nevus with pseudomelanomatous features: a case report

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Exposición a polvo de harina de trigo en panaderías de la Región Metropolitana / Bakers' exposure to wheat flour dust in Santiago, Chile

Wheat flour is a known sensitizer for humans. Bakers exposed to flour dust may develop occupational rhinitis and asthma. In Chile there is no current permissible limit for occupational exposure to wheat flour. To propose such a limit, 9 bakeries located in 6 districts of Santiago de Chile were evaluated, 6 bakeries were semi-industrial and 3 were small business. Twenty-eight environmental personal samples were obtained by standard sampling methods and they were analyzed at the Institute of Public Health of Chile. No significant differences were found (p = 0,2915, Kruskall-Wallis' test) between air concentrations of flour particles in the working environment of semi-industrial (geometric mean: MG = 0.88 mg/m³,geometric deviation: DEG = 2,68) and small business (MG = 1.39 mg/m³, DEG = 2,31). A permissible limit of wheat flour dust exposure is recommended.

Se conoce que la harina de trigo es un sensibilizador en seres humanos. Los panaderos expuestos a polvo de harina pueden desarrollar rinitis y asma ocupacional. En Chile actualmente no existe un límite permisible para la exposición ocupacional a polvo de harina. Con el objetivo de proponer un límite, fueron evaluadas 9 panaderías de 6 comunas de Santiago de Chile, de las cuales 6 fueron semi-industriales y 3 pequeñas. Un total de veintiocho muestras personales de aire fueron obtenidas según método estándar de muestreo y analizadas en el Instituto de Salud Pública de Chile. No se encontraron diferencias significativas (p = 0,2915, prueba de Kruskall-Wallis) en la concentración de partículas de harina en el ambiente de trabajo semi-industrial (media geométrica: MG = 0,88 mg/m³, desviación geométrica: DEG = 2,68) y en el de panaderías pequeñas (MG = 1,39 mg/m³, DEG = 2,31). En base a las observaciones realizadas se recomienda establecer un límite permisible de exposición para polvo de harina de trigo.

Tumores de colisión valorados por microscopía confocal / Evaluation of Collision Tumors by Confocal Microscopy

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