Survey on the Management of Dysplastic Nevus by Dermatologists in the Center-Spain section of the Spanish Academy of Dermatology and Venereology (AEDV). / Encuesta sobre el manejo del nevus displásico por los dermatólogos de la sección Centro de la Academia Española de Dermatología y Venereología (AEDV).

BACKGROUND AND OBJECTIVES: There are no clinical guidelines on the management of dysplastic nevus (DN). The aims of this study were to determine the percentage of dermatologists in the center-Spain section of the Spanish Academy of Dermatology and Venereology (AEDV) who would manage a histologically confirmed DN with a watch-and-wait approach or with wider surgical margins and to investigate whether their attitudes would vary depending on whether or not the patient had a personal and/or family history of melanoma. MATERIAL AND METHODS: We collected data from an anonymous survey sent to 738 dermatologists between June 15 and July 31, 2022. The independent variables were degree of dysplasia (low vs. high), margin status (positive vs. negative), and a personal or family history of melanoma (yes vs. no in both cases). The dependent variables were attitude towards management (watch-and-wait vs. re-excision with a surgical margin of 1 to 4mm or re-excision with a surgical margin of 5 to 10mm). RESULTS: We obtained 86 responses to the questionnaire. When pathology indicated a low-grade DN, 60.5% of dermatologists stated they would obtain a surgical margin of 1 to 4mm if the first margins were positive, and 97.7% would watch and wait if the report described negative margins. For high-grade DNs, 1.2% of dermatologists would watch and wait to manage DN with positive margins; 68.8% would use this approach for negative margins. A family or personal history of melanoma had no influence on most of the dermatologists' attitudes. CONCLUSIONS: Management strategies for DN among dermatologists from the center-Spain section of the AEDV varied, particularly when faced with low-grade DN with positive margins and high-grade DN with negative margins. A family or personal history of melanoma did not influence clinical attitudes in most cases.

Genome-wide association study of obsessive-compulsive disorder.

Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the genetic variation predisposing to OCD. A set of individuals affected with DSM-IV OCD, a subset of their parents, and unselected controls, were genotyped with several different Illumina SNP microarrays. After extensive data cleaning, 1465 cases, 5557 ancestry-matched controls and 400 complete trios remained, with a common set of 469,410 autosomal and 9657 X-chromosome single nucleotide polymorphisms (SNPs). Ancestry-stratified case-control association analyses were conducted for three genetically-defined subpopulations and combined in two meta-analyses, with and without the trio-based analysis. In the case-control analysis, the lowest two P-values were located within DLGAP1 (P=2.49 × 10(-6) and P=3.44 × 10(-6)), a member of the neuronal postsynaptic density complex. In the trio analysis, rs6131295, near BTBD3, exceeded the genome-wide significance threshold with a P-value=3.84 × 10(-8). However, when trios were meta-analyzed with the case-control samples, the P-value for this variant was 3.62 × 10(-5), losing genome-wide significance. Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio-case-control sample, a significant enrichment of methylation QTLs (P<0.001) and frontal lobe expression quantitative trait loci (eQTLs) (P=0.001) was observed within the top-ranked SNPs (P<0.01) from the trio-case-control analysis, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD.

Mondor's disease.

Mondor's disease (MD) is a rare condition, which is considered a thrombophlebitis of the subcutaneous veins. It commonly occurs on the anterolateral thoracoabdominal wall, but it can also occur on the penis, groin, antecubital fossa and posterior cervical region. The clinical features are a sudden and typically asymptomatic onset of a cord-like induration, although some patients report a feeling of 'strain'. It is a self-limiting process that lasts a short period of time, which may be the reason why there are few reports about its diagnosis and treatment. Its pathogenesis has remained unclear, because of the lack of methods to reliably differentiate between veins and lymphatic vessels. Immunohistochemical staining for CD31 and D240 has been identified recently as the best method to distinguish small veins from lymphatic vessels, making it a valuable technique in diagnosing not only MD, but also many other diseases in which veins or lymphatic vessels are affected. MD has been associated with several systemic diseases such as breast cancer and hypercoagulability states, thus laboratory studies are recommended to exclude any possible systemic disorders. As this condition is usually a benign and self-limiting process, vigorous treatment is only recommended when the process is symptomatic or recurrent.

Immunohistochemical clues to the diagnosis of Mondor's disease of the penis.

Mondor's disease of the penis is usually a benign, self-limiting process of acute onset. To date, there have been few studies about its diagnosis and treatment. It is difficult to differentiate MD of the penis from sclerosing lymphangitis of the penis, because the symptoms, epidemiology and aetiology are similar, and because veins are histologically very similar to lymphatics. We report a case of MD in which immunochemical markers such as CD31 and D240 allowed us to specifically discriminate between the small vein and lymphatic vessels. This is important not only for the recognition of MD at any site, but for many other diseases in which veins or lymphatic vessels are affected.

Estudio por imagenes en mortinatos: una alternativa a la autopsia

Nowadays, imaging techniques are cornerstones for fetal anatomy diagnosis. We present a case of stillborn monocorial twins in which virtual imaging studies are helpful in discarding anatomical defects on the spectrum of oligohydroamnios sequence or Potterïs syndrome. In one of them, inadequate bladder visualization in antenatal ultrasound suggested a renal cause. The other twin was our natural control. CT and MR were performed in both twins at University of Chile Clinical Hospital. Anatomical imaging in different axis, surface 3D and complete skeleton reconstructions were obtained. There are seven clinical syndromes with anatomical defects and congenital renal malformation able to produce oligohydroamnios sequence or Potterïs syndrome described in literature. The images obtained in these cases, allowed us to discard malformations or associated defects related to oligohydroamnios sequence, suggesting a premature ovular disruption. In this study, CT and MR imaging results were more accurate than antenatal ultrasound and similar to fetal autopsy.

Las técnicas de imagen, son hoy en día, una herramienta muy importante en el diagnóstico fetal para detectar o descartar defectos anatómicos. Presentamos su utilidad en el estudio necrópsico virtual, en gemelos monocoriales mortinatos de 21 semanas de edad gestacional, en el espectro de la secuencia de oligohidroamnios o síndrome de Potter, en uno de ellos se sospechó una causa renal, por la falta de visualización vesical en una ecografía prenatal. El otro considerado normal, paso a ser el control natural. Se realizan exámenes de tomografía computada (TC) y resonancia magnética (RM), en el Servicio de Imagenología del Hospital Clínico de la Universidad de Chile, obteniéndose diferentes cortes anatómicos, y reconstrucciones 3D de superficie y de esqueleto completo. En la revisión de la literatura, se reconocen siete cuadros clínicos que presentan defectos anatómicos asociados a malformaciones renales y que cursan con la secuencia de oligohidroamnios. Las imágenes obtenidas, nos permitieron descartar cuadros de malformaciones o defectos asociados a oligohidroamnios, suponiéndose como causa de mortinato la rotura ovular prematura. La TC y RM en este estudio permitió obtener resultados más claros que la ultrasonografía prenatal y tan buenos como la autopsia fetal.

[Experimental study of the suture of the intraocular lens sutured to the ciliary sulcus. Needle passage and distance from the limbus]. / Estudio experimental de la sutura de las lentes intraoculares suturadas al sulcus ciliar. Paso de la aguja y distancia al limbo.

OBJECTIVE: To discover which technique is best to scleral suture fixation of the lens in the ciliary sulcus, based on two needle direction options: passing the needle from the outer part of the eyeball inwards or from the inner part outwards and to know at what distance the needle must be passed from the sclerocorneal limbus. MATERIAL AND METHODS: We used 40 cadaver eyes conserved in 10% formaldehyde. The needle was passed from the interior to the exterior of the eye, observing whether if it had crossed through the ciliary sulcus and the distance of the needle from the limbus. Stitches were also made, going from the exterior to the interior of the eyeball at a known distance from the limbus, either parallel to the iris or perpendicular to the sclera. RESULTS: When the needle was passed from the interior toward the exterior of the eye, it passed through the ciliary sulcus, exiting the eye at 1.50+/-0.16 mm from the limbus, in 80% of the cases. When the needle was passed from the exterior toward the interior of the globe perpendicularly to the sclera only 32.5% passed through the sulcus and when it was parallel to the iris only, only 40%. There is greater statistical probability that the needle will pass through the sulcus from the interior of the eyeball, exiting the limbus at approximately 1.5 mm. CONCLUSION: Since it is necessary to pass the suture through the sulcus in order to be able to place the lens haptics in the ciliary sulcus when suturing a posterior chamber lens to the sclera, it is best to pass the needle from the interior to the exterior of the eyeball and for the needle to exit at approximately 1.5 mm from the limbus.

An efficient method for the physical mapping of transgenes in barley using in situ hybridization.

The genetic transformation of crops by particle bombardment and Agrobacterium tumefaciens systems have the potential to complement conventional plant breeding programmes. However, before deployment, transgenic plants need to be characterized in detail, and physical mapping is an integral part of this process. Therefore, it is important to have a highly efficient method for transgene detection by fluorescence in situ hybridization (FISH). This study describes a new approach, which provides efficient control of probe length and labelling, both of which play an important role in in situ hybridization of transgenes. The approach is based on reducing the size of the plasmid prior to labelling by nick translation, rather than using the whole or linearized plasmid, or varying the amounts of DNaseI in the nick translation mixture. This provided much more efficient labelling of the probe, which yielded optimal hybridization. minimal fluorescent background, and accurate physical location of the transgene.

Tracheostomy ventilation versus diaphragmatic pacemaker ventilation in high spinal cord injury.

We have made a retrospective comparative study of patients with spinal cord injury, nine with a diaphragmatic pacemaker and 13 with mechanical ventilation. Clinical outcome, cost and subjective satisfaction with both modalities have been evaluated. The functional status was the same with both types of treatment. Proper management of an electric wheelchair and optimal phonation were attained, respectively, in 100% and 89% of pacers and in 77% and 77% of mechanically ventilated. The rate of hospital discharge and satisfaction with the treatment were significantly better for pacers. The time devoted to ventilatory assistance and cost were also more favourable in this group.

[Crohn disease in 3 siblings]. / Enfermedad de Crohn en tres hermanos.

Three siblings without a known familiar history of chronic inflammatory disease of the intestine suffered Crohn's disease. They were the 3rd, 4th and 8th siblings of a family of 8 siblings. The onset of the disease and its course were similar in all three patients. Considering the form of familial presentation and the possible influence of environmental factors in this type of patients, a review is made of the influence of these factors in accordance with the clinical patients' evolution.

Continuous respiratory support in quadriplegic children by bilateral phrenic nerve stimulation.

Three children, aged 6-10 years, in whom cervical cord injury at the C1-C2 level resulted in apnoea had bilateral implantation of diaphragm pacemakers. With periods of gradual conditioning of the diaphragm muscle to low frequency stimulation and slow respiratory rates they adapted to continuous ventilatory support by simultaneous stimulation of both hemidiaphragms without evidence of fatigue, so far for periods of 23-47 months.

Permanent artificial respiration by diaphragm pacemaker in tetraplegic children.

This is a study of two children, aged respectively 10 and 6 years, who sustained a spinal cord injury at the C1 C2, causing apnoea. After the bilateral implantation of diaphragm pacemakers and periods of conditioning, they were able to adapt to continuous and simultaneous full-time ventilatory support of both diaphragms without any sign of fatigue, for more than 24 and 11 months, respectively.