Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.

In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which has recently been implicated in the regulation of diverse molecular processes. However, because lncRNAs do not encode protein, there is uncertainty regarding what constitutes a pathogenic lncRNA variant, and thus annotating such elements is challenging. The Developmental Genome Anatomy Project (DGAP) and similar projects recruit individuals with apparently balanced chromosomal abnormalities (BCAs) that disrupt or dysregulate genes in order to annotate the human genome. We hypothesized that rearrangements disrupting lncRNAs could be the underlying genetic etiology for the phenotypes of a subset of these individuals. Thus, we assessed 279 cases with BCAs and selected 191 cases with simple BCAs (breakpoints at only two genomic locations) for further analysis of lncRNA disruptions. From these, we identified 66 cases in which the chromosomal rearrangements directly disrupt lncRNAs. Strikingly, the lncRNAs MEF2C-AS1 and ENSG00000257522 are each disrupted in two unrelated cases. Furthermore, in 30 cases, no genes of any other class aside from lncRNAs are directly disrupted, consistent with the hypothesis that lncRNA disruptions could underly the phenotypes of these individuals. To showcase the power of this genomic approach for annotating lncRNAs, here we focus on clinical reports and genetic analysis of two individuals with BCAs and additionally highlight six individuals with likely developmental etiologies due to lncRNA disruptions.

PCDHGC3 hypermethylation as a potential biomarker of intestinal neuroendocrine carcinomas.

Neuroendocrine neoplasms (NENs) encompass tumors arising from neuroendocrine cells in various organs, including the gastrointestinal tract, pancreas, adrenal gland, and paraganglia. Despite advancements, accurately predicting the aggressiveness of gastroenteropancreatic (GEP) NENs based solely on pathological data remains challenging, thereby limiting optimal clinical management. Our previous research unveiled a crucial link between hypermethylation of the protocadherin PCDHGC3 gene and neuroendocrine tumors originating from the paraganglia and adrenal medulla. This epigenetic alteration was associated with increased metastatic potential and succinate dehydrogenase complex (SDH) dysfunction. Expanding upon this discovery, the current study explored PCDHGC3 gene methylation within the context of GEP-NENs in a cohort comprising 34 cases. We uncovered promoter hypermethylation of PCDHGC3 in 29% of GEP-NENs, with a significantly higher prevalence in gastrointestinal (GI) neuroendocrine carcinomas (NECs) compared with both pancreatic (Pan) NECs and neuroendocrine tumors (NETs) of GI and Pan origin. Importantly, these findings were validated in one of the largest multi-center GEP-NEN cohorts. Mechanistic analysis revealed that PCDHGC3 hypermethylation was not associated with SDH mutations or protein loss, indicating an SDH-independent epigenetic mechanism. Clinically, PCDHGC3 hypermethylation emerged as a significant prognostic factor, correlating with reduced overall survival rates in both patient cohorts. Significantly, whereas PCDHGC3 hypermethylation exhibited a strong correlation with TP53 somatic mutations, a hallmark of NEC, its predictive value surpassed that of TP53 mutations, with an area under the curve (AUC) of 0.95 (95% CI 0.83-1.0) for discriminating GI-NECs from GI-NETs, highlighting its superior predictive performance. In conclusion, our findings position PCDHGC3 methylation status as a promising molecular biomarker for effectively stratifying patients with GI-NENs. This discovery has the potential to advance patient care by enabling more precise risk assessments and tailored treatment strategies. © 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Finger-Length Ratios and Sexual Orientation in Southern Spain: A Large Sample Study on Sex-Linked Personality and Cognitive Traits.

Some similarities between sex differences and sexual orientation differences, with gay men shifted in female-typical directions and lesbians shifted in male-typical directions, have been hypothesized to reflect the effects of prenatal androgen exposure. This report assessed sex-linked personality and cognitive traits in a Spanish sample of 1117 straight (i.e., heterosexual) and non-straight (i.e., non-heterosexual) men and women, using finger-length ratio (2D:4D) as an index of prenatal androgen exposure. Observed sex differences were in the expected direction: Measures of right-hand 2D:4D, left-hand 2D:4D, and anxiety were higher in straight women than men, whereas impulsivity, dominance, cognitive reflection, and mathematical proficiency were higher in straight men than women. Gay men proved to be shifted in a female-typical direction compared to straight men for right-hand 2D:4D, left-hand 2D:4D, anxiety, and cognitive reflection; they were intermediate for dominance and mathematics, and were shifted in a male-typical direction for impulsivity. Lesbians were shifted in a male-typical direction compared to straight women for left-hand 2D:4D, anxiety, cognitive reflection, and mathematics; and they were shifted in a highly female-typical direction for impulsivity and dominance (scoring lower than straight women). Observed sex-linked shifts in gay men and lesbians were larger for psychological traits that displayed larger sex differences, and smallest for impulsivity (which displayed the smallest sex difference). Evidence also suggested that sex-related measures were linked to 2D:4D in theoretically meaningful ways. In conclusion, this report suggests a plausible role of androgens as prenatal determinants of sex-linked personality and cognitive traits in straight and non-straight men and women.

In-stent restenosis is associated with proliferative skin healing and specific immune and endothelial cell profiles: results from the RACHEL trial.

Introduction: In-stent restenosis (ISR) is a major challenge in interventional cardiology. Both ISR and excessive skin healing are aberrant hyperplasic responses, which may be functionally related. However, the cellular component underlying ISR remains unclear, especially regarding vascular homeostasis. Recent evidence suggest that novel immune cell populations may be involved in vascular repair and damage, but their role in ISR has not been explored. The aims of this study is to analyze (i) the association between ISR and skin healing outcomes, and (ii) the alterations in vascular homeostasis mediators in ISR in univariate and integrative analyses. Methods: 30 patients with ≥1 previous stent implantation with restenosis and 30 patients with ≥1 stent without restenosis both confirmed in a second angiogram were recruited. Cellular mediators were quantified in peripheral blood by flow cytometry. Skin healing outcomes were analyzed after two consecutive biopsies. Results: Hypertrophic skin healing was more frequent in ISR patients (36.7%) compared to those ISR-free (16.7%). Patients with ISR were more likely to develop hypertrophic skin healing patterns (OR 4.334 [95% CI 1.044-18.073], p=0.033), even after correcting for confounders. ISR was associated with decreased circulating angiogenic T-cells (p=0.005) and endothelial progenitor cells (p<0.001), whereas CD4+CD28null and detached endothelial cells counts were higher (p<0.0001 and p=0.006, respectively) compared to their ISR-free counterparts. No differences in the frequency of monocyte subsets were found, although Angiotensin-Converting Enzyme expression was increased (non-classical: p<0.001; and intermediate: p<0.0001) in ISR. Despite no differences were noted in Low-Density Granulocytes, a relative increase in the CD16- compartment was observed in ISR (p=0.004). An unsupervised cluster analysis revealed the presence of three profiles with different clinical severity, unrelated to stent types or traditional risk factors. Conclusion: ISR is linked to excessive skin healing and profound alterations in cellular populations related to vascular repair and endothelial damage. Distinct cellular profiles can be distinguished within ISR, suggesting that different alterations may uncover different ISR clinical phenotypes.

Safety and feasibility of transradial access for percutaneous coronary intervention in chronic total occlusions.

INTRODUCTION AND OBJECTIVES: Transfemoral access is the most frequently used vascular approach in chronic total occlusion percutaneous coronary interventions (CTO-PCI). The aim of this study was to evaluate the safety and feasibility of a transradial access CTO-PCI program and its impact on angiographic and clinical results and length of hospital stay. METHODS: Retrospective multicenter cohort study including 2550 consecutive CTO-PCI procedures included in a multicenter registry with accurate information on vascular access. A total of 896 procedures were performed as radial-only access while 1654 were performed through at least 1 femoral puncture. Clinical and angiographic data were collected. RESULTS: The mean age was 66.3± 11.4 years. The mean Japan-chronic total occlusion score (2.7±0.3) was similar in the 2 groups. Successful revascularization was achieved in 2009 (79.6%) cases, 78.2% and 82.1% in the femoral and radial access cohorts, respectively (P=.002). Periprocedural in-hospital complications were observed in 5.1% and 2.3% (P=.02), with fewer access site-dependant vascular complications in the transradial cohort (2.3% vs 0.2%; P=.009). The mean length of hospital stay was significantly shorter in the transradial access group (0.89±1.4 vs 2.2±3.2 days, P<.001). CONCLUSIONS: A transradial program for CTO-PCI is safe and effective in most CTO lesions. The transradial strategy has fewer vascular complications and shorter length of hospital stay without compromising the success rate.

How the COVID-19 pandemic hit crime in Barcelona: Analysis of variation in crime trends.

Objectives: To compare the observed and forecasted crime trends in Barcelona, using crime statistics from January 2018 to March 2021. Methods: We trained (seasonal) auto-regressive integrated moving average modelling (95% confidence intervals) using daily recorded crimes from January 2018 to February 2020. These models were then used to forecast crime data from March 2020 to March 2021 across four periods (lockdown, summer, fall and winter). Crime data were organized into two categories: property (burglary, theft) and violent crimes (robbery, assault, domestic violence and sexual offenses [rape, assault or abuse]). Results: Overall, crime levels for property and violent crimes during lockdown declined sharply from the forecasted levels. Theft, burglary, assault, robbery and sexual offenses exhibited general decreases throughout the study period, with the same sharp declines during the lockdown, progressive recovery in the summer, and steady or slight reductions from fall to March 2021. Only domestic violence differed, reaching the forecasted levels for all periods and surpassing the forecast for summer 2020. Conclusions: Our findings show how the pandemic has affected mid-term crime trends. They help to place the measures applied in the last year into context and to determine the most suitable policies to reduce crime during societal change.

Liposarcoma pleomórfico originado en una localización inusual. Presentación de caso / Pleomorphic liposarcoma arising in an unusual site. A case report

Los liposarcomas son el grupo más común de las neoplasias mesenquimatosas malignas. Suelen aparecer en las extremidades y en el retroperitoneo. Es excepcional su localización intestinal. Se presenta el caso de un varón de 75 años que fue hospitalizado por anemia severa, en cuya TC se objetivó un engrosamiento de asa yeyunal de 5cm sospechoso de neoplasia. Se realizó resección parcial de intestino delgado. Macroscópicamente se identificó una tumoración polipoide ulcerada de 12×6cm. Microscópicamente se observó una neoplasia bien delimitada, ulcerada, de transición abrupta con una mucosa circundante normal, compuesta por lipoblastos pleomórficos sobre un fondo sarcomatoso. Existen muy pocos casos publicados de liposarcomas intestinales, la mayoría de los cuales eran liposarcomas bien diferenciados o desdiferenciados. Se presenta el caso de un liposarcoma pleomórfico de intestino delgado por su excepcional localización y la importancia en su diagnóstico diferencial.(AU)

Liposarcomas are the most common group of malignant mesenchymal neoplasms. They usually occur in the extremities and the retroperitoneum and only rarely in the intestine. We report the case of a 75-year-old man presenting with severe anaemia. A CAT scan revealed a 5cm thickening of the jejunal loop, arousing the suspicion of a neoplasm. A partial resection of the small intestine was performed. Macroscopy showed a 12×6cm ulcerated, polypoid mass. Microscopically, a well circumscribed, ulcerated tumour was seen, which had well-defined margins with the surrounding normal mucosa. It consisted of pleomorphic lipoblasts within a sarcomatous background. Very few cases of intestinal liposarcomas have been published and the majority report well-differentiated or undifferentiated liposarcomas. We present a case of a pleomorphic liposarcoma of the small intestine, which is an unusual location and emphases the importance of a comprehensive differential diagnosis.(AU)

[Pleomorphic liposarcoma arising in an unusual site. A case report]. / Liposarcoma pleomórfico originado en una localización inusual. Presentación de caso.

Liposarcomas are the most common group of malignant mesenchymal neoplasms. They usually occur in the extremities and the retroperitoneum and only rarely in the intestine. We report the case of a 75-year-old man presenting with severe anaemia. A CAT scan revealed a 5cm thickening of the jejunal loop, arousing the suspicion of a neoplasm. A partial resection of the small intestine was performed. Macroscopy showed a 12×6cm ulcerated, polypoid mass. Microscopically, a well circumscribed, ulcerated tumour was seen, which had well-defined margins with the surrounding normal mucosa. It consisted of pleomorphic lipoblasts within a sarcomatous background. Very few cases of intestinal liposarcomas have been published and the majority report well-differentiated or undifferentiated liposarcomas. We present a case of a pleomorphic liposarcoma of the small intestine, which is an unusual location and emphases the importance of a comprehensive differential diagnosis.

Non-pancreatic Pseudocyst Presenting as a Giant Retroperitoneal Mass.

OBJECTIVE: To assess the non-pancreatic retroperitoneal pseudocyst in the differenctial diagnosis of retroperitoneal cystic masses. METHODS: To report a case. RESULTS: We present a case of a 50-year-old woman with symptoms of pain and a palpable abdominal mass. In imaging studies a 13-cm retroperitoneal cystic mass with left ureterohydronephrosis was observed. Surgical excision of the mass was performed with pathological diagnosis of non-pancreatic retroperitoneal pseudocyst. CONCLUSION: Non-pancreatic retroperitoneal pseudocyst is an entity with a very low incidence, benign, usually asymptomatic. It can grow compressing on adjacent structures. The definitive diagnosis is histopathological and the treatment is surgical. It's important to carry out complete exeresis to avoid recurrences.

[Recognition of COVID-19 as an occupational disease and its impact on different professional groups]. / Reconocimiento de la COVID-19 como enfermedad profesional y su repercusión en diferentes colectivos profesionales.

En la notificación nº 366 "Enfermedad de Coronavirus" publicada por el Ministerio de Sanidad en fecha 03/05/2021, con los datos individualizados notificados por las CCAA a la Red Nacional de Vigilancia Epidemiológica (al sistema SiViEs), se indica que están notificados en España 3 540 430 casos de COVID-19 de los cuales 78 293 son fallecidos. Del total de casos notificados, corresponden al personal sanitario y sociosanitario unos 80 065 (2.26%) casos de COVID-19 notificados con diagnóstico posterior al 10 de mayo de 2020, siendo significativamente mayor el porcentaje entre las mujeres (77.95% o 62 416 casos) que entre los hombres (21.95% o 17 582 casos). Además, a la cifra de 80.065 casos se deben sumar un total de 35.548 casos declarados desde el inicio de la pandemia hasta el 7/05/2020(3), obteniendo una cifra total de 115 613 casos notificados de COVID-19 en personal sanitario.

Testicular somatic cell-like cells derived from embryonic stem cells induce differentiation of epiblasts into germ cells.

Regeneration of the testis from pluripotent stem cells is a real challenge, reflecting the complexity of the interaction of germ cells and somatic cells. Here we report the generation of testicular somatic cell-like cells (TesLCs) including Sertoli cell-like cells (SCLCs) from mouse embryonic stem cells (ESCs) in xeno-free culture. We find that Nr5a1/SF1 is critical for interaction between SCLCs and PGCLCs. Intriguingly, co-culture of TesLCs with epiblast-like cells (EpiLCs), rather than PGCLCs, results in self-organised aggregates, or testicular organoids. In the organoid, EpiLCs differentiate into PGCLCs or gonocyte-like cells that are enclosed within a seminiferous tubule-like structure composed of SCLCs. Furthermore, conditioned medium prepared from TesLCs has a robust inducible activity to differentiate EpiLCs into PGCLCs. Our results demonstrate conditions for in vitro reconstitution of a testicular environment from ESCs and provide further insights into the generation of sperm entirely in xeno-free culture.

A global analysis of the impact of COVID-19 stay-at-home restrictions on crime.

The stay-at-home restrictions to control the spread of COVID-19 led to unparalleled sudden change in daily life, but it is unclear how they affected urban crime globally. We collected data on daily counts of crime in 27 cities across 23 countries in the Americas, Europe, the Middle East and Asia. We conducted interrupted time series analyses to assess the impact of stay-at-home restrictions on different types of crime in each city. Our findings show that the stay-at-home policies were associated with a considerable drop in urban crime, but with substantial variation across cities and types of crime. Meta-regression results showed that more stringent restrictions over movement in public space were predictive of larger declines in crime.

Infección por trypanosoma cruzi y bloqueo cardíaco del nodo auriculoventricular en el salvador / Trypanosoma cruzi infection and atrioventricular-nodal heart block in El Salvador

Resumen La enfermedad de Chagas es endémica en América Latina y sigue siendo un problema regional a pesar de que su frecuencia ha disminuido gracias a importantes avances en salud ambiental. Para determinar su frecuencia en pacientes con enfermedades miocárdicas de El Salvador, se llevó a cabo una in vestigación observacional retrospectiva en nuestro hospital que es un centro de referencia de nivel nacional. Se revisó el registro del Laboratorio de Chagas en el período 2013-2015 para conocer cuántos individuos internados en la Unidad Cardiológica eran positivos por serología para infección chagásica y cuáles fueron sus diagnósticos. Se realizó un total de 1472 pruebas a pacientes individuales durante los 36 meses del período de estudio. De los 557 pacientes con serología positiva para Chagas, 97 (17.4%) fueron eventualmente hospitalizados en la Unidad Cardiológica. A su vez, estos 97 pacientes representaron el 33.7% de los 288 pacientes con cardiopatías. Entre los 97 con cardiopatía chagásica, 40 (41.2%) cumplieron criterios para colocación de marcapaso permanente, mientras que solo 13 de 191 (6.8%) enfermos con cardiopatías no chagásicas cumplieron esos criterios. La frecuencia de bloqueos auriculoventriculares asociados a infección por Trypanosoma cruzi resultó mucho mayor que las publicadas en estudios previos realizados en Sudamérica.

Abstract Chagas disease is endemic in Latin America and remains a regional problem despite improvements in en vironmental health conditions that have helped to control its transmission. To know more about its prevalence in heart disease patients, we carried out a survey in our national (El Salvador) reference hospital. We reviewed the Chagas Lab´s records 2013-2015 to find out how many of the patients admitted to the Hospital´s Heart Unit were serologically positives for Trypanosoma cruzi infection and which the associated diagnoses were. A total of 1472 patients were tested along the 36-month study period. Out of 557 (37.8%) patients with positive serology for Chagas infection, 97 (17.4%) were eventually admitted to the Heart Unit. Among these 97 Chagas infected patients with heart disease, 40 (41.2%) met the criteria for permanent pacemaker placement, while only 13 of 191 (6.8%) patients with non-chagasic heart disease met these criteria. The frequency of heart atrioventricular block associated with Trypanosoma cruzi infection was higher than frequencies reported in South American studies.

[Trypanosoma cruzi infection and atrioventricular-nodal heart block in El Salvador]. / Infección por Trypanosoma cruzi y bloqueo cardíaco del nodo auriculo-ventricular en El Salvador.

Chagas disease is endemic in Latin America and remains a regional problem despite improvements in environmental health conditions that have helped to control its transmission. To know more about its prevalence in heart disease patients, we carried out a survey in our national (El Salvador) reference hospital. We reviewed the Chagas Lab's records 2013-2015 to find out how many of the patients admitted to the Hospital's Heart Unit were serologically positives for Trypanosoma cruzi infection and which the associated diagnoses were. A total of 1472 patients were tested along the 36-month study period. Out of 557 (37.8%) patients with positive serology for Chagas infection, 97 (17.4%) were eventually admitted to the Heart Unit. Among these 97 Chagas infected patients with heart disease, 40 (41.2%) met the criteria for permanent pacemaker placement, while only 13 of 191 (6.8%) patients with non-chagasic heart disease met these criteria. The frequency of heart atrioventricular block associated with Trypanosoma cruzi infection was higher than frequencies reported in South American studies.

La enfermedad de Chagas es endémica en América Latina y sigue siendo un problema regional a pesar de que su frecuencia ha disminuido gracias a importantes avances en salud ambiental. Para determinar su frecuencia en pacientes con enfermedades miocárdicas de El Salvador, se llevó a cabo una investigación observacional retrospectiva en nuestro hospital que es un centro de referencia de nivel nacional. Se revisó el registro del Laboratorio de Chagas en el período 2013-2015 para conocer cuántos individuos internados en la Unidad Cardiológica eran positivos por serología para infección chagásica y cuáles fueron sus diagnósticos. Se realizó un total de 1472 pruebas a pacientes individuales durante los 36 meses del período de estudio. De los 557 pacientes con serología positiva para Chagas, 97 (17.4%) fueron eventualmente hospitalizados en la Unidad Cardiológica. A su vez, estos 97 pacientes representaron el 33.7% de los 288 pacientes con cardiopatías. Entre los 97 con cardiopatía chagásica, 40 (41.2%) cumplieron criterios para colocación de marcapaso permanente, mientras que solo 13 de 191 (6.8%) enfermos con cardiopatías no chagásicas cumplieron esos criterios. La frecuencia de bloqueos auriculoventriculares asociados a infección por Trypanosoma cruzi resultó mucho mayor que las publicadas en estudios previos realizados en Sudamérica.

Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the phenotypic spectrum associated with various levels of 45,X/46,XX mosaicism, we compared patients evaluated in the Massachusetts General Hospital Turner Syndrome Clinic to determine if cardiac, renal, and thyroid abnormalities correlated with the percentage of 45,X cells present in a peripheral blood karyotype. of the 118 patients included in the study, 78 (66%) patients had non-mosaic 45,X and 40 (34%) patients had varying levels of 45,X/46,XX mosaicism. Patients with ≤70% 45,X compared with those with >70% 45,X had a significantly lower frequency of cardiac and renal anomalies. The presence of hypothyroidism was somewhat lower for the ≤70% 45,X group, but was not statistically significant. Supplemental tissue testing on another tissue type, typically buccal mucosa, was often useful in counseling patients with 45,X mosaicism. Given the modest sample size of patients with varying levels of mosaicism and the variability of Turner syndrome abnormalities, we hope this preliminary study will inspire a multicenter collaboration, which may lead to modification of clinical guidelines. Because several patients with ≤70% 45,X were ascertained from perinatal care referrals, we still advise women with 45,X mosaicism pursuing pregnancy to receive standard Turner syndrome cardiac surveillance. There is an opportunity to personalize counseling and surveillance for patients based on percentage of 45,X cells on chromosome analysis.

Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing.

Novel cytogenetic tools are increasingly based on genome sequencing for detecting chromosomal abnormalities. Different sequence-based techniques optimized for diagnosis of structural variants can be useful for narrowing down the localization of breakpoints of chromosomal abnormalities, but do not offer nucleotide resolution of breakpoints for proper interpretation of gene disruption. This protocol presents the characterization of structural variants at nucleotide resolution using Sanger sequencing after low-pass large-insert genome sequencing or other long-molecule methods. © 2020 Wiley Periodicals LLC. Basic Protocol 1: Primer design for junction amplification at translocations and inversions Basic Protocol 2: Amplification of derivative chromosomes using a long-range polymerase Alternate Protocol: Amplification of derivative chromosomes using a hot-start polymerase Basic Protocol 3: Preparation of DNA for Sanger sequencing Basic Protocol 4: Interpretation and reporting of breakpoints based on Sanger sequencing.

AA amyloidosis associated with morbid obesity (clinical case) / Amiloidosis AA asociada a la obesidad mórbida (caso clínico)

We present the case of a 45-year-old woman who was hospitalized due to severe macrocytic anemia and renal failure. The patient presented a morbid obesity. The immunological study showed anti-ENA anti-SSA (Ro52) positive, with negative antinuclear antibodies. Also in the proteinogram (serum immunofixation) the presence of monoclonal bands IgG lambda and IgG kappa, monoclonal component 7.2% (4.68g/L), with elevation of free light chains (kappa 95.94mg/L (3.3-19.4), evidenced, lambda 145.17mg/L (5.71-26.3)). The bone marrow study showed an infiltration of 5% of plasma cells and positive for AA amyloid. Finally, a percutaneous renal biopsy was performed, which again showed amyloid infiltration. In the genetic study, 2 mutations of the family Mediterranean fever gene (MEFV) have been identified. Secondary AA amyloidosis has been described associated with obesity, in addition to a percentage of cases of unknown etiology

Presentamos el caso de una mujer de 45 años que fue hospitalizada debido a una anemia macrocítica severa e insuficiencia renal. El paciente presentaba una obesidad mórbida. El estudio inmunológico mostró positividad para anti-ENA, anti-SSA (Ro52) y negatividad para anticuerpos antinucleares. También en el proteinograma (inmunofijación sérica) se detectó la presencia de bandas monoclonales IgG lambda e IgG kappa, con un componente monoclonal del 7,2% (4,68g/l) y la elevación de cadenas ligeras libres (kappa 95,94mg/l [3,3-19,4]; lambda 145,17mg/l [5,71-26,3]). El estudio de biopsia de médula ósea mostró una infiltración del 5% de células plasmáticas y positividad para amiloide AA. Finalmente, se realizó una biopsia renal que nuevamente mostró infiltración amiloide. En el estudio genético se identificaron 2 mutaciones del gen de la fiebre mediterránea familiar (MEFV). La amiloidosis secundaria AA se ha descrito asociada a la obesidad, además de un porcentaje de casos de etiología desconocida

Feasibility of using an led-probe in third-space endoscopy: a clinical study.

BACKGROUND: Third-space endoscopy is a novel, safe, and effective method for treating different gastrointestinal conditions. However, several failed endoscopic procedures are attributed to incomplete myotomy. Lighting devices are used to prevent organic injuries. We aimed to investigate the feasibility of using a hand-made LED-probe (LP) in third-space procedures. METHODS: This prospective study was conducted in a tertiary-care center in Mexico between December 2016 and January 2019. We included peroral endoscopic myotomy (POEM) and gastric peroral endoscopic myotomy(G-POEM) procedures. Pseudoachalasia, peptic ulcer, normal gastric emptying scintigraphy (GES) and prepyloric tumors were excluded. LP was used to guide or confirm procedures. Clinical and procedural characteristics were recorded and analyzed. RESULTS: Seventy third-space procedures were included (42POEM,28G-POEM), with an average patient age of 46.7 ± 14.3 and 43.7 ± 10.1 years, respectively. For the POEM and G-POEM groups, respectively, 18/42(42.9%) and 13/28(46.7%) patients were males; median procedure times were 50 (interquartile range [IQR]: 38-71) and 60(IQR: 48-77) min, median LP placement times were 5(IQR: 4-6) and 6(IQR: 5-7) min, mild adverse events occurred in 4(9.4%) and 4(14.2%) of cases, and clinical success at 6 months occurred in 100 and 85.7% of cases. Integrated relaxation pressure (IRP) improved from 27.3 ± 10.8 to 9.5 ± 4.1 mmHg (p < 0.001); retention percentage at 4 h also improved. LP was successfully placed and adequate myotomy confirmed including 14.2 and 17.8% of POEM and G-POEM difficult patients. CONCLUSIONS: Using an LP is promising and allows guiding during third-space procedures either for submucosal tunnel creation or myotomy confirmation, with excellent safety and efficacy in clinical practice.

Conventional clips vs over-the-scope-clips for the closure of the entry site in POEM and G-POEM procedures

BACKGROUND: new alternatives for entry site closure (ESC) in per-oral endoscopy myotomy (POEM) and gastric peroral endoscopy myotomy (G-POEM) have appeared. OBJECTIVE: to compare the over-the-scope-clip (OTSC®) and conventional clips (CC) for ESC in POEM and G-POEM. MATERIAL AND METHODS: a retrospective review of a prospective POEM and G-POEM database was performed between January 2015 and August 2019. A description was made of outcomes, using either OTSC® or CC for submucosal tunnel closure. RESULTS: forty-six POEM and 26 G-POEM were included in the study (23/13 per group [CC/OTSC®]). There were no clinical or procedure differences. ESC was performed with 1 OTSC® vs 5 CC and 1 vs 6 (p = 0.01) for POEM and G-POEM, respectively. Adverse events associated with clips were 21.7% vs 13% (p = 0.01) and 7.7% vs 0% (p = 0.02) for CC and OTSC® in POEM and G-POEM, respectively. CONCLUSION: OTSC® represents a safe and effective alternative for entry site closure in POEM and G-POEM cases. Further studies are needed to recommend OTSC® as the first option for submucosal tunnel closure in these procedures

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