Intestinal intussusception in adults: Location, causes, symptoms, and therapeutic management.

OBJECTIVE: Intestinal intussusception is difficult to diagnose in adults because the symptoms are nonspecific. However, most have structural causes that require surgical treatment. This paper reviews the epidemiologic characteristics, imaging findings, and therapeutic management of intussusception in adults. MATERIALS AND METHODS: This retrospective study identified patients diagnosed with intestinal intussusception who required admission to our hospital between 2016 and 2020. Of the 73 cases identified, 6 were excluded due to coding errors and 46 were excluded because the patients were aged <16 years. Thus, 21 cases in adults (mean age, 57 years) were analyzed. RESULTS: The most common clinical manifestation was abdominal pain, reported in 8 (38%) cases. In CT studies, the target sign yielded 100% sensitivity. The most common site of intussusception was the ileocecal region, reported in 8 (38%) patients. A structural cause was identified in 18 (85.7%) patients, and 17 (81%) patients required surgery. The pathology findings were concordant with the CT findings in 94.1% of cases; tumours were the most frequent cause (6 (35.3%) benign and 9 (64.7%) malignant). CONCLUSIONS: CT is the first-choice test for the diagnosis of intussusception and plays a crucial role in determining its aetiology and therapeutic management.

Secondary haemophagocytic lymphohistiocytosis in COVID-19: correlation of the autopsy findings of bone marrow haemophagocytosis with HScore.

BACKGROUND: Secondary haemophagocytic lymphohistiocytosis (sHLH) is characterised by a hyper activation of immune system that leads to multiorgan failure. It is suggested that excessive immune response in patients with COVID-19 could mimic this syndrome. Some COVID-19 autopsy studies have revealed the presence of haemophagocytosis images in bone marrow, raising the possibility, along with HScore parameters, of sHLH. AIM: Our objective is to ascertain the existence of sHLH in some patients with severe COVID-19. METHODS: We report the autopsy histological findings of 16 patients with COVID-19, focusing on the presence of haemophagocytosis in bone marrow, obtained from rib squeeze and integrating these findings with HScore parameters. CD68 immunohistochemical stains were used to highlight histiocytes and haemophagocytic cells. Clinical evolution and laboratory parameters of patients were collected from electronic clinical records. RESULTS: Eleven patients (68.7%) displayed moderate histiocytic hyperplasia with haemophagocytosis (HHH) in bone marrow, three patients (18.7%) displayed severe HHH and the remainder were mild. All HScore parameters were collected in 10 patients (62.5%). Among the patients in which all parameters were evaluable, eight patients (80%) had an HScore >169. sHLH was not clinically suspected in any case. CONCLUSIONS: Our results support the recommendation of some authors to use the HScore in patients with severe COVID-19 in order to identify those who could benefit from immunosuppressive therapies. The presence of haemophagocytosis in bone marrow tissue, despite not being a specific finding, has proved to be a very useful tool in our study to identify these patients.

Intestinal intussusception in adults: location, causes, symptoms, and therapeutic management. / Invaginaciones intestinales en el adulto: localización, etiología, sintomatología y manejo terapéutico.

OBJECTIVE: Intestinal intussusception is difficult to diagnose in adults because the symptoms are nonspecific. However, most have structural causes that require surgical treatment. This paper reviews the epidemiologic characteristics, imaging findings, and therapeutic management of intussusception in adults. MATERIALS AND METHODS: This retrospective study identified patients diagnosed with intestinal intussusception who required admission to our hospital between 2016 and 2020. Of the 73 cases identified, 6 were excluded due to coding errors and 46 were excluded because the patients were aged<16 years. Thus, 21 cases in adults (mean age, 57 y) were analyzed. RESULTS: The most common clinical manifestation was abdominal pain, reported in 8 (38%) cases. In CT studies, the target sign yielded 100% sensitivity. The most common site of intussusception was the ileocecal region, reported in 8 (38%) patients. A structural cause was identified in 18 (85.7%) patients, and 17 (81%) patients required surgery. The pathology findings were concordant with the CT findings in 94.1% of cases; tumors were the most frequent cause (6 (35.3%) benign and 9 (64.7%) malignant). CONCLUSIONS: CT is the first-choice test for the diagnosis of intussusception and plays a crucial role in determining its etiology and therapeutic management.

Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH).

Germline/somatic BRCA-mutated ovarian carcinomas (OC) are associated to have better response with platinum-based chemotherapy and long-term prognosis than non-BRCA-associated OCs. In addition, these mutations are predictive factors to response to Poly(ADP-ribose) polymerase (PARP) inhibitors. Different positioning papers have addressed the clinical recommendations for BRCA testing in OC. This consensus guide represents a collection of technical recommendations to address the detection of BRCA1/2 mutations in the molecular diagnostic testing strategy for OC. Under the coordination of Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH), these recommendations have been developed by pathologists and geneticists taking into account previously published recommendations and their experience in the molecular characterization of these genes. Since the implementation of BRCA testing as a predictive factor can initiate the workflow by testing germline mutations in the blood or by testing both germline and somatic mutations in tumor tissue, distinctive features of both strategies are discussed. Additionally, the recommendations included in this paper provide some references, quality parameters, and genomic tools aimed to standardize and facilitate the clinical genomic diagnosis of OC.

Somatic innervation contributes to the release of bulbourethral gland secretion in male rats.

BACKGROUND: In male rats, the bulbourethral glands (Bu-Gs) are the unique accessory sexual glands surrounded by striated musculature. However, until now the role of this musculature was unknown. OBJECTIVES: (i) To characterize the Bu-Gs striated muscular layer in male rats and determine its innervation and response to genital stimulation. (ii) To reveal the role of the Bu-Gs striated musculature in the release of glandular secretion. (iii) To elucidate the effect of bilateral ablation of the Bu-Gs on copulatory behavior and seminal fluid characteristics. MATERIALS AND METHODS: Adult Wistar male rats were allocated in three experiments: in Experiment 1, the Bu-Gs striated musculature, innervation and reflex activity were determined by gross anatomy and histological and electrophysiological techniques; electromyographic activity of the Bu-Gs striated musculature was evoked with genital stimulation. In Experiment 2, Bu-Gs were analyzed after copulatory behavior of intact or animals with unilateral transected motor branch of the sacral plexus (MBSP). In Experiment 3, copulatory behavior and spermatobioscopy of males with bilateral ablation of the Bu-Gs or sham surgery were analyzed. RESULTS: The Bu-Gs striated fibers discharged in response to mechanostimulation of the prepuce, glans, and penile-urethra. Innervation of the Bu-Gs striated musculature originated from the MBSP; this nerve also innervates striated penile muscles. Unilateral transection of the MBSP significantly decreased the secretion from the ipsilateral Bu-G to the nerve transection. Bilateral ablation of Bu-Gs did not affect seminal plug formation but decreased semen viscosity. DISCUSSION AND CONCLUSION: The Bu-Gs striated musculature contributes to expel glandular secretion during sexual intercourse. The somatic control of Bu-Gs secretion is additional to the reported autonomic innervation supplied by the cavernosus nerve, which may underlie the synthesis of secretion as well as contraction of Bu-Gs smooth muscle.

Determinantes de la salud en adultos de la ciudad de Chimbote, Perú: estudio descriptivo / Health determinants in adults in Chimbote, Peru: a descriptive study

Resumen Objetivo Describir los determinantes de la salud en adultos de la jurisdicción de la Red de Salud Pacifico Norte y Sur de la ciudad de Chimbote. Métodos Se realizó un estudio descriptivo no controlado. Los determinantes de la salud fueron descritos mediante las dimensiones: del entorno biosocioeconómico, de los estilos de vida y de las redes sociales y comunitarias. Para el análisis descriptivo de variables categóricas se utilizaron frecuencias relativas y absolutas. Resultados Se incluyeron 1496 adultos. En los determinantes del entorno biosocioeconómico, el 62,2% son mujeres y 53,3% adultos mayores. En determinantes de estilos de vida, el 52,4% no fuma, ni ha fumado nunca de manera habitual, 50,5% no consumen bebidas alcohólicas y 66,9% duerme de seis a ocho horas. En determinantes de apoyo comunitario, el 53% se atendió en estos 12 últimos meses en un puesto de salud, 47,5% considera que el lugar donde se atendió se encuentra a regular distancia desde su vivienda y 64,6% tiene Seguro Integral de Salud del Ministerio de Salud peruano, SIS­MINSA. Conclusión La mayoría de las personas estudiadas culminó estudios secundarios y no accedió a mejores escalas salariales. La mayoría cuenta con vivienda propia y servicios básicos, pero viven en hacinamiento. Predomina el sedentarismo y alimentación elevada en carbohidratos.

Abstract Objetive To describe health determinants in adults of the Jurisdiction of the North and South Pacific Health Network of the city of Chimbote. Methods A non-controlled descriptive study was carried out. Health determinants were described according to bio-socioeconomic environment, determinants of lifestyles, and determinants of social and community networks. For the descriptive analysis of categorical variables, relative and absolute frequencies were used. Results 1 496 adults were included. Among determinants of bio socioeconomic environment, 62.2% were women and 53.3% were older adults. In determinants of lifestyles, 52.4% did not smoke, nor have ever smoked regularly, 50.5% did not consume alcoholic beverages, and 66.9% had 6 to 8 hours of sleep. As for determinants of community support, 53% were treated in a health post in the previous 12 months, 47.5% considered that the healthcare post was mid-distance from their home, and 64.6% had insurance of the SIS-MINSA. Conclusion Most of the participants finished high school and did not reach better salary scales. Most own their homes and have access to basic services, but live in overcrowded conditions. A sedentary lifestyle and a high carbohydrate diet are predominant.

Modified SureSelectQXT Target Enrichment Protocol for Illumina Multiplexed Sequencing of FFPE Samples.

BACKGROUND: Personalised medicine is nowadays a major objective in oncology. Molecular characterization of tumours through NGS offers the possibility to find possible therapeutic targets in a time- and cost-effective way. However, the low quality and complexity of FFPE DNA samples bring a series of disadvantages for massive parallel sequencing techniques compared to high-quality DNA samples (from blood cells, cell cultures, etc.). RESULTS: We performed several experiments to understand the behaviour of FFPE DNA samples during the construction of SureSelectQXT libraries. First, we designed a quality checkpoint for FFPE DNA samples based on the quantification of their amplification capability (qcPCR). We observed that FFPE DNA samples can be classified according to DIN value and qcPCR concentration into unusable, or low-quality (LQ) and good-quality (GQ) DNA. For GQ samples, we increased the amount of input DNA to 150 ng and the digestion time to 30 min, whereas for LQ samples, we used 50 ng of DNA as input but we decreased the digestion time to 1 min. In all cases, we increased the cycles of the pre-hyb PCR to 10 but decreased the cycles of the post-hyb PCR to 8. In addition, we confirmed that using half of the volume of reagents can be beneficial. Finally, in order to obtain better results, we designed a decision flow-chart to achieve a seeding concentration of 12-14 pM for MiSeq Reagent Kit v2. CONCLUSIONS: Our experiments allowed us to unveil the behaviour of low-quality FFPE DNA samples during the construction of SureSelectQXT libraries. Sequencing results showed that, using our modified SureSelectQXT protocol, the final percentage of usable reads for low-quality samples was increased more than three times allowing to reach median depth/million reads values of 76.35. This value is equivalent to ~ 0.9 and ~ 0.7 of the values obtained for good-quality FFPE and high-quality DNA respectively.

Proposal for the creation of a national strategy for precision medicine in cancer: a position statement of SEOM, SEAP, and SEFH.

Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. Precision medicine is transforming clinical and biomedical research, as well as health care itself from a conceptual, as well as a methodological viewpoint, providing extraordinary opportunities to improve public health and lower the costs of the healthcare system. However, the implementation of precision medicine poses ethical-legal, regulatory, organizational, and knowledge-related challenges. Without a national strategy, precision medicine, which will be implemented one way or another, could take place without the appropriate planning that can guarantee technical quality, equal access of all citizens to the best practices, violating the rights of patients and professionals, and jeopardizing the solvency of the healthcare system. With this paper from the Spanish Societies of Medical Oncology, Pathology, and Hospital Pharmacy, we highlight the need to institute a consensual national strategy for the development of precision medicine in our country, review the national and international context, comment on the opportunities and challenges for implementing precision medicine, and outline the objectives of a national strategy on precision medicine in cancer.

Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology.

Because of advances in the understanding of histological and molecular characteristics in ovarian cancer, it is now possible to recognize the existence of five subtypes, which in turn has allowed a more refined therapeutic approach and better design of clinical trials. Each of these five subtypes has specific histological features and a particular biomarker expression, as well as mutations in different genes, some of which have prognostic and predictive value. CA125 and HE4 are examples of ovarian cancer biomarkers used in the diagnosis and follow-up of these malignancies. Currently, somatic or germinal mutations on BRCA1 and BRCA2 genes are the most important biomarkers in epithelial ovarian cancer having prognostic and predictive value. This article will review the histological and molecular characteristics of the five subtypes of ovarian cancer, describing the most important biomarkers and mutations that can guide in diagnosis, screening and tailored treatment strategy.

Neuroanatomic and behavioral correlates of urinary dysfunction induced by vaginal distension in rats.

The aim of the present study was to use a model of simulated human childbirth in rats to determine the damage to genitourinary structures and behavioral signs of urinary dysfunction induced by vaginal distension (VD) in female rats. In experiment 1, the length of the genitourinary tract and the nerves associated with it were measured immediately after simulated human delivery induced by VD or sham (SH) procedures. Electroneurograms of the dorsal nerve of the clitoris (DNC) were also recorded. In experiment 2, histological characteristics of the bladder and major pelvic ganglion of VD and SH rats were evaluated. In experiment 3, urinary parameters were determined in conscious animals during 6 h of dark and 6 h of light before and 3 days after VD or SH procedures. VD significantly increased distal vagina width (P < 0.001) and the length of the motor branch of the sacral plexus (P < 0.05), DNC (P < 0.05), and vesical nerves (P < 0.01) and decreased DNC frequency and amplitude of firing. VD occluded the pelvic urethra, inducing urinary retention, hematomas in the bladder, and thinness of the epithelial (P < 0.05) and detrusor (P < 0.01) layers of the bladder. Major pelvic ganglion parameters were not modified after VD. Rats dripped urine in unusual places to void, without the stereotyped behavior of micturition after VD. The neuroanatomic injuries after VD occur alongside behavioral signs of urinary incontinence as determined by a new behavioral tool for assessing micturition in conscious animals.

Loss of the tumor suppressor spinophilin (PPP1R9B) increases the cancer stem cell population in breast tumors.

The spinophilin (Spn, PPP1R9B) gene is located at 17q21.33, a region frequently associated with microsatellite instability and loss of heterozygosity, especially in breast tumors. Spn is a regulatory subunit of phosphatase1a (PP1), which targets the catalytic subunit to distinct subcellular locations. Spn downregulation reduces PPP1CA activity against the retinoblastoma protein, pRb, thereby maintaining higher levels of phosphorylated pRb. This effect contributes to an increase in the tumorigenic properties of cells in certain contexts. Here, we explored the mechanism of how Spn downregulation contributes to the malignant phenotype and poor prognosis in breast tumors and found an increase in the stemness phenotype. Analysis of human breast tumors showed that Spn mRNA and protein are reduced or lost in 15% of carcinomas, correlating with a worse prognosis, a more aggressive tumor phenotype and triple-negative tumors, whereas luminal tumors showed high Spn levels. Downregulation of Spn by shRNA increased the stemness properties along with the expression of stem-related genes (Sox2, KLF4, Nanog and OCT4), whereas ectopic overexpression of Spn cDNA reduced these properties. Breast tumor stem cells appeared to have low levels of Spn mRNA, and Spn loss correlated with increased stem-like cell appearance in breast tumors as indicated by an increase in CD44+/CD24- cells. A reduction of the levels of PPP1CA mimicked the cancer stem-like cell phenotype of Spn downregulation, suggesting that the mechanism of Spn involves PP1a. These increased cancer stem cell-like properties with reduced Spn might account for the malignant phenotype observed in Spn-loss tumors and may contribute to a worse patient prognosis.

Cuerpo extraño intra-abdominal: caso clínico y revisión de literatura / Intra-abdominal foreign body: clinical case and review of the literature

Cases of intra-abdominal foreign bodies are rare and caused mainly by retained elements after surgery and by, in general, accidental swallowing and subsequent perforation of the gastrointestinal tract. We report the case of a 74 year-old female patient, presenting with fever, abdominal pain and weight loss. An abdominal TC showed the presence of a foreign body that had caused a perforation of duodenum and gallbladder neck; surgery showed that it was a 4 cm ‘twist-tie’. The description of the case presents differential diagnoses, based on a review of the literature. This is a rare event and corresponds to the third publication of a case of a twist-tie intra-abdominal foreign body, according to a review of other medical publications.

Los cuerpos extraños intraabdominales son infrecuentes y se deben en gran medida a accidentes quirúrgicos y a ingesta, en general, accidental y posterior perforación del tracto digestivo. Se reporta un caso de una mujer de 74 años con fiebre, dolor abdominal y baja de peso, cuyo estudio mediante tomografía computada de abdomen muestra un cuerpo extraño que perfora duodeno y el bacinete. La cirugía demostró que se trataba de un “twist tie” de 4 cm que perforaba esas estructuras. En la descripción del caso se plantean los diagnósticos diferenciales basados en revisión de la literatura. Se presenta este caso por ser muy infrecuente, correspondiendo a la tercera publicación de un cuerpo extraño intra-abdominal por twist tie, de acuerdo con la revisión de las publicaciones médicas.

[Multiple cervical spine fractures. Case report]. / Fracturas múltiples de la columna cervical. Reporte de un caso.

INTRODUCTION: Multiple cervical spine fractures are a relatively infrequent entity and thus the available information on them is scarce worldwide. The cases reported are usually managed conservatively, with a combination of skeletal traction and various braces, with variable results. There are only a few reports of multiple fractures treated surgically. Objective: This is a report of a clinical case of a multiple cervical fracture treated surgically in 2 stages at the Mexico City Center for Patients with Spine and Spinal Cord Injury (Centro de Atenci6n a Lesionados Raquimedulares de la Ciudad de Mexico), located at "La Villa" General Hospital, SSDF. MATERIAL AND METHODS: We report the clinical case of a male, 46 year-old patient involved in a motor vehicle accident who sustained spine and spinal cord injuries consisting of ASIA C C2-C6 fractures. It was decided to perform two-stage surgery with posterior and anterior instrumentation. We report the 19-month clinical and radiological follow-up. RESULTS: In the 19-month follow-up visit, the patient was found to be ASIA D according to the neurological assessment, with mild motor deficit of the left thoracic limb. The patient had returned to his usual job and had acceptable cervical spine mobility. CONCLUSIONS: The patient's appropriate course from the neurological perspective and his return to his daily activities leads to recommending the surgical management of multiple fractures, customizing it in each case according to the fractures' characteristics. Favorable results may be expected from this approach.