Standardization of radiograph readings during bowel management week.

INTRODUCTION: During "bowel management week," abdominal radiographs are used to monitor the amount and location of stool. A radiologist familiar with the treatment plan can provide an improved interpretation. The goal of this paper is to standardize the radiological reports during a bowel management week. METHODS: We saw 744 patients during bowel management week from May 2016 until March 2023. Diagnosis included: anorectal malformation (397), idiopathic constipation (180), Hirschsprung disease (89), and spina bifida (78). Laxatives were the treatment for 51% of patients, and 49% received enemas. Characteristic radiographs were selected for each treatment group for a proposed reading standardization. RESULTS: When the stool is visualized, it is crucial to report its location. Having a contrast enema helps with the correct interpretation of the colonic anatomy. It is also essential to always compare the amount of stool with the radiograph from the previous day to determine if there is an increase or decrease in stool. Examples of radiographs are shown to guide the use of the preferred proposed terminology. CONCLUSION: Providing information regarding which treatment modality the patient is receiving and stating that a patient is on a bowel management week treatment is crucial for the radiologist to provide adequate interpretation. The radiologist must be familiar with the treatment goals and purpose of the daily radiograph.

Sequence analysis of exons 30 and 31 of LAMA3 gene variants and its association with human papillomavirus infection predisposition: no evidence was found.

OBJECTIVE: Human papillomavirus (HPV) is associated with cervical cancer. For the infection to occur, most HPV types depend on interactions with heparan sulfate proteoglycans (HSPGs); however, non-HSPGs receptors are also involved. Laminin 332 is a crucial component of the epidermis's base membrane. It has shown interactions with HPV that suggest its function as a transient viral receptor in the extracellular matrix (ECM). We provide new information about Laminin 332 and HPV by identifying LAMA3 gene allelic variants from exons 30 and 31 and their distribution among women with and without HPV infection. PATIENTS AND METHODS: We included 192 cervical cancer scrape samples from two groups of patients, 96 samples from patients with a low-grade squamous intraepithelial lesion (LSIL) and 96 samples from HPV-negative samples without LSIL. Identification of the HPV type was performed using an LCD-Array kit. Exons 30 and 31 of LAMA3 were amplified by PCR and analyzed by Sanger's sequencing. RESULTS: We identified a wide range of HPV types. The most frequent low-risk (lrHPV) HPV types were 6, 42, 44, and 90. For high-risk (hrHPV) HPV were 16, 31, 56, and 66. Only the genetic variant rs1131521 was identified in both groups. However, no significant association was observed between rs1131521 and the study groups. CONCLUSIONS: A single silent polymorphism was identified in both groups with similar frequency, whereas no mutations related to increased epithelial friability were identified.

Incidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database.

PURPOSE: Multiple endocrine neoplasia Type 2A (MEN2A) can occur with Hirschsprung disease (HD) due to mutation in the RET proto-oncogene, with the majority developing medullary thyroid carcinoma (MTC). Given the comorbidity, many parents have contacted us to share concerns and unfortunate experiences about the prevalence rates of MEN2A/MTC in patients with HD. The aim is to determine the prevalence rate of patients with HD and MEN2A or medullary thyroid carcinoma, respectively. METHODS: This is a cross-sectional study of the COSMOS database from January 01, 2017, to March 08, 2023. The database was searched for patients diagnosed with MEN2A, MTC, and HD. IRB exemption was provided (COMIRB #23-0526). RESULTS: The database contained 183,993,122 patients from 198 contributing organizations. The prevalence of HD and MEN2A was 0.00002%, and for HD and MTC was 0.000009%. One in 66 patients (1.5%) with MEN2A also had HD. One in 319 patients (0.3%) in the HD group had MEN2A. One in 839 patients (0.1%) within the HD population had MTC. CONCLUSION: The prevalence of MTC and HD or MEN2A and HD in the study population was low. Considering that almost all MEN2A patients have a positive family history, this data does not support the general genetic testing of HD patients.

Detección temprana de deterioro cognitivo leve en personas mayores durante la pandemia: protocolo cribado online / Early detection of mild cognitive impairment in older people during the pandemic: online screening protocol

Introducción: la pandemia COVID-19 ha tenido un gran impacto en la vida y en especial en las personas mayores. El objetivo del presente estudio fue explorar un protocolo de cribado online para detectar tempranamente Deterioro Cognitivo Leve en personas mayores. Métodos: fue de tipo cuantitativo y cualitativo. La muestra fue de 22 personas mayores de las comunas de Coronel y Lota, Región del Bio-bio. El protocolo estaba compuesto por: Cuestionario sociodemográfico, Test del Reloj Versión Cacho, Moca versión validada en Chile, Escala Depresión Yesavage y Test Acentuación de Palabras. El procedimiento consistió en la aplicación del protocolo a través de un Tablet o Laptop. Resultados: se encontró que la mayoría no presentaba deterioro cognitivo, pero si depresión. Conclusiones: se discute sobre la aplicación de un protocolo de diagnóstico online en personas mayores y los indicadores de depresión que podrían estar dado por la situación actual de pandemia.

The COVID-19 pandemic has had a great impact in the world, more so in the lives of elderly people. The objective of this study was to explore an online screening protocol to detect early Mild Cognitive Impairment. The method was both quantitative and qualitative, the sample included 22 elderly people from the Coronel y Lota, Biobio region. The protocol was integrated with a sociodemographic questionnaire, the Clock Drawing Test (Cacho Version), MOCA (validated in Chile version), Yesavage Depression Scale (Reduced version) and the Word Accentuation Test. The evaluation involved applying the protocol online in a tele neuropsychological assessment. The results showed that most of the elder people evaluated did not present cognitive impairment but did have depression. The application of an online diagnostic protocol in older people and the indicators of depression that could be given by the current pandemic situation are discussed.

Do adult patients with congenital colorectal conditions know their diagnosis?

PURPOSE: Limited research exists about the knowledge that adult patients have about their congenital colorectal diagnosis. METHODS: This was an IRB approved, prospective study of patients in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Surveys were administered through REDCap after patients consented to being contacted for research purposes. Patients provided demographic data, which was linked to surgical records, and the diagnoses provided by patients were compared with diagnoses recorded by the original surgeons. RESULTS: One hundred and thirty-one questionnaires were collected, 115 patients had anorectal malformations (ARM) and 16 had Hirschsprung disease (HD). Seven patients who had ARM were unaware that they had an ARM or HD. The type of ARM recorded by the surgeon was unavailable for comparison with the patient's reported diagnosis in four cases. Of the 111 remaining patients with ARM, only 32 of them (29%) knew what their own type of anomaly was. Female patients recalled their diagnosis more often than male patients (42.4% vs 13.5%). All 16 participants with HD correctly identified their diagnosis severity as HD with or without total colonic aganglionosis. CONCLUSION: The results of this study demonstrate patient's limited understanding of their type of ARM and highlight the urgent need to enhance communication and education strategies, such as issuing patients with medical diagnosis identification cards. It is critical for clinicians to better communicate with patients to ensure that they and their relatives truly understand their precise diagnosis. Adequately informed patients can better advocate for themselves, adhere to treatments and precautionary recommendations and navigate the complexities of transitional care. Consequently they can more effectively manage their lifelong complications.

Comparison of the performance of a high voltage generator insulated by gas or liquid dielectric.

A module of a wireless high voltage generator was tested immersed in both gaseous and liquid environments providing electrical insulation. The overall performance of the module as well as a detailed performance of the key components are reported, and a comparison between the results in gas and liquid is given. The tests performed on the liquid dielectric show that it is a valid alternative to high pressure gas electrical insulation.

Error traps and culture of safety in Hirschsprung disease.

Hirschsprung disease affects many children every year around the world. Currently, there is an extensive menu of diagnostic methods, and surgical treatments. This situation compels the physicians to follow the rationale of these interventions. The comprehensive diagnosis and treatment of Hirschsprung disease need singular procedures. The clear understanding of how to perform each of these techniques, as well as to read the results is mandatory. Otherwise, the medical team may perform unconscious errors and fall into traps. Many errors still happen in patients with Hirschsprung, resulting in a spectrum of problems; from delayed diagnosis to unnecessary colectomies. In other patients, the damage to the anal canal results in fecal incontinence. When this is established, it is an unreversed and devastating social problem. This article describes why these errors occur and how to prevent them.

Guidelines for the management of postoperative soiling in children with Hirschsprung disease.

Although most children with Hirschsprung disease ultimately achieve functional and comfortable stooling, some will experience a variety of problems after pull-through surgery. The most common problems include soiling, obstructive symptoms, enterocolitis, and failure to thrive. The purpose of this guideline is to present a rational approach to the management of postoperative soiling in children with Hirschsprung disease. The American Pediatric Surgical Association Hirschsprung Disease Interest Group engaged in a literature review and group discussions. Expert consensus was then used to summarize the current state of knowledge regarding causes, methods of diagnosis, and treatment approaches to children with soiling symptoms following pull-through for Hirschsprung disease. Causes of soiling after pull-through are broadly categorized as abnormalities in sensation, abnormalities in sphincter control, and "pseudo-incontinence." A stepwise algorithm for the diagnosis and management of soiling after a pull-through for Hirschsprung disease is presented; it is our hope that this rational approach will facilitate treatment and optimize outcomes.

Actitud, hábitos de estudio y rendimiento académico: Abordaje desde la teoría de la acción razonada / Attitudes, study habits, and academic performance: Addressing them from the theory of the reasoned action / Atitude, hábitos de estudo e rendimento académico: Abordagem desde a teoria da ação racional

Introducción Las actitudes y los hábitos hacia el estudio y el aprendizaje son un factor de suma importancia en la determinación del rendimiento académico. Objetivo Analizar la correlación entre actitud y hábitos de estudio con el rendimiento académico en estudiantes universitarios. Metodología Es una investigación de corte cuantitativo, transversal, correlacional y analítico, participaron 286 estudiantes de manera voluntaria. Para medir las variables se utilizaron el Inventario de Hábitos de Estudio y el Cuestionario de Evaluación de Actitudes ante el Aprendizaje en Estudiantes Universitarios. Los datos se analizaron mediante el programa estadístico STATA v.11.1, se realizaron pruebas de comparación de frecuencias (chi-cuadrada), de correlación (r de Pearson) y análisis de regresión logística. Resultados Del total de los participantes (n=286), 75.8% fueron del sexo femenino; 43.7% (n=125) tuvieron alto rendimiento académico, con promedio general de 9 o más. En cuanto a los hábitos de estudio, 66.4% (n=190) obtuvieron puntajes en la clasificación de adecuados, 25.2% (n=72) presentaron actitudes positivas hacia el estudio; Se obtuvo una asociación altamente significativa (p=0.001,) entre hábitos y actitudes ante el estudio mediante una prueba de chi-cuadrada. La correlación entre hábitos de estudio y actitudes hacia el estudio fue moderada pero significativa (r=0.461, p < 0.05); el análisis de regresión logística, reveló asociaciones positivas entre actitudes y rendimiento académico. Conclusiones Este estudio demuestra que las actitudes y los hábitos de estudio, tienen un fuerte impacto en el rendimiento académico.

Introduction Attitudes and habits towards studying and learning are important factors while determining academic performance. Objective To analyze the correlation between attitude and study habits, with academic performance among university students. Methodology This is a quantitative, transversal, correlational and analytical research where 286 students voluntarily participated. In order to estimate the variables, the Study Habits Inventory, and the Assessment of Attitudes towards Learning among University Students scale were used. Data were analyzed using the STATA v.11.1 program. Frequency comparison tests (chi-square), correlations (Pearson r), and logistic regression were calculated. Results From the total of participants (n=286), 75.8% were female, while 43.7% (n=125) showed high academic performance with a 9/10 or higher grade average. Regarding the study habits, and 66.4% (n=190) obtained an adequate classification score; and 25.2% (n=72) showed positive attitudes towards studying. The correlation related to habits and attitudes towards studying was found to be r=0.461, p < 0.05; while the logistic regression analysis revealed positive associations between study attitudes and academic performance. Conclusions This study shows that attitudes and habits towards studying have a strong impact on academic performance.

Introdução As atitudes e os hábitos em direção ao estudo e à aprendizagem são um fator de suma importância na determinação do desempenho académico. Objetivo Analisar a correlação entre atitude e hábitos de estudo com o desempenho académico em estudantes universitários. Metodologia É uma pesquisa de corte quantitativo, transversal, correlacional e analítico, participaram 286 estudantes de maneira voluntária. Para medir as variáveis utilizaram-se o Inventario de Hábitos de Estudo e o Questionário de Avaliação de Atitudes ante a Aprendizagem em Estudantes Universitários. Os dados analisaram-se mediante o programa estatístico STATA v.11.1, realizaram-se provas de comparação de frequências (chi-quadrado), de correlação (r de Pearson) e análise de regressão logística. Resultados Do total dos participantes (n=286), 75.8% foram do sexo feminino; 43.7% (n=125) tiveram alto rendimento académico, com média geral de 9 ou mais. A respeito dos hábitos de estudo, 66.4% (n=190) obtiveram pontuações na classificação de adequados, 25.2% (n=72) apresentaram atitudes positivas para o estudo; obteve-se uma associação altamente significativa (p=0.001,) entre hábitos e atitudes ante o estudo mediante uma prova de chi-quadrado. A correlação entre hábitos de estudo e atitudes para o estudo foi moderada, mas significativa (r=0.461, p < 0.05); a análise de regressão logística, revelou associações positivas entre atitudes e rendimento académico. Conclusões Este estudo demonstra que as atitudes e os hábitos de estudo, tem um forte impacto no desempenho académico.

Follicular Development and Secretion of Ovarian Hormones during the Juvenile and Adult Reproductive Lives of the Myelin Mutant taiep Rat: An Animal Model of Demyelinating Diseases.

Infertility and reproductive problems have been reported in women with several neurological disorders, for example, demyelination. However, the physiology of such problems has remained unknown so far. The taiep rats are an animal neurological model that initially shows a hypomyelination followed by a progressive demyelination of the central nervous system. This animal has reproductive problems, and the aim of this work is to characterize the follicular development, secretion of ovarian hormones, and presence of noradrenaline in the ovaries of the female taiep rats in the juvenile and adult stages. The taiep rats have low body weight (approximately 19% less than that of SD rats), a delay of 4 days in the age of vaginal opening, and an irregularity in the estrous cycle by the absence or prolongation of some estral cycle stage. In the juvenile stage, we observed a decrease of approximately 44% in the total number of follicles with a 15% increase of atresia and an 80% decrease in the fluorescence intensity of catecholamines in the ovaries, with a 21% increment in plasma concentrations of testosterone. In the adult stage, we observed follicular cysts and a 50% decrease in fluorescence intensity of catecholamines in the ovaries, with changes in the secretion of ovarian hormones, an increase of 20 times in progesterone, and a decrement of a half in estradiol. The demyelination in taiep rats affects follicular development and steroidogenesis in the early stages of the animal's life, and this is maintained until adulthood.

Development of a non-viral gene delivery vector based on the dynein light chain Rp3 and the TAT peptide.

Gene therapy and DNA vaccination trials are limited by the lack of gene delivery vectors that combine efficiency and safety. Hence, the development of modular recombinant proteins able to mimic mechanisms used by viruses for intracellular trafficking and nuclear delivery is an important strategy. We designed a modular protein (named T-Rp3) composed of the recombinant human dynein light chain Rp3 fused to an N-terminal DNA-binding domain and a C-terminal membrane active peptide, TAT. The T-Rp3 protein was successfully expressed in Escherichia coli and interacted with the dynein intermediate chain in vitro. It was also proven to efficiently interact and condense plasmid DNA, forming a stable, small (∼100nm) and positively charged (+28.6mV) complex. Transfection of HeLa cells using T-Rp3 revealed that the vector is highly dependent on microtubule polarization, being 400 times more efficient than protamine, and only 13 times less efficient than Lipofectamine 2000™, but with a lower cytotoxicity. Confocal laser scanning microcopy studies revealed perinuclear accumulation of the vector, most likely as a result of transport via microtubules. This study contributes to the development of more efficient and less cytotoxic proteins for non-viral gene delivery.

Transanal versus open endorectal pull-through for Hirschsprung's disease.

PURPOSE: Transanal endorectal resection and pull-through technique (TERPT) for Hirschsprung's disease (HD) was described in 1998. It offers the advantages of avoiding laparotomy, laparoscopy, scars, abdominal contamination, and adhesions. The authors compared TERPT with 2 open standard endorectal pull-through approaches. METHODS: Twenty-eight HD patients operated on by endorectal pull-through were compared in 3 groups. Group I had 10 patients with preliminary colostomy approached by laparotomy; group II, 8 by laparotomy; and group III, 10 patients treated by TERPT. Age, operating time and bleeding, complications, follow-up, and functional results were analyzed. Mean, standard deviation, and median were calculated. Groups were compared by 1-way analysis of variance (ANOVA) using the Kruskal-Wallis test. RESULTS: Age and length of follow-up were not statistically different (P = .12 and .07, respectively). Operating time and bleeding were less in group III (P = .03 for both). An intestinal obstruction secondary to adhesions and a subhepatic abscess occurred in group I and II, respectively. Minimal complications occurred in group III. Good functional results were obtained in 80% to 90% of the patients in all groups. CONCLUSION: TERPT minimizes blood loss in this study, was expeditious, uncomplicated, and as effective as the open standard techniques.

Sea urchin sperm head plasma membranes: characteristics and egg jelly induced Ca2+ and Na+ uptake.

Sea urchin sperm respond to egg factors with changes in the ionic permeability of their plasma membrane. It has been previously shown that plasma membranes isolated preferentially from sea urchin sperm flagella respond to egg jelly increasing their Ca2+ and Na+ uptake (Darszon et al. (1984) Eur. J. Biochem. 144, 515-522). However, the egg jelly induced acrosome reaction occurs in the sperm head, and there is evidence for an heterogeneous distribution of plasma membrane components within the various regions of this cell. We here report a method for purifying sperm head membranes using positively charged beads according to Jacobson (1977) Biochim. Biophys. Acta 471, 331-335). Under the transmission electron microscope these membranes appeared homogeneous and apparently free of internal membranes. The yield of the preparation was 0.9% of the total protein in the sperm homogenate. The preparation contained less than 5% of the mitochondrial marker cytochrome oxidase, and 10% of the total DNA/mg protein. Surface labeling with 125I indicated a 2.5-3-fold enrichment in specific activity of the head membranes with respect to whole sperm. The SDS band pattern and the lipid composition of this preparation were different from those of isolated flagellar membranes. Phosphatidylcholine was higher in the head membranes, while phosphatidylserine and phosphatidylethanolamine were lower. The head membranes displayed a 1.7-2.3-fold higher Ca2+-ATPase activity and a 2.5-fold lower Na+/K+-ATPase activity, than the flagellar membranes. These results are consistent with a heterogeneous distribution of membrane components along the sea urchin sperm plasma membranes. Isolated head membranes sonicated in the presence of soybean phospholipid liposomes responded to egg jelly with a species-specific increase in Ca2+ and Na+ uptake. As in whole sperm, Ca2+ uptake was inhibited by the Ca2+ channel blocker nisoldipine. A close analog of this compound, [3H]nitrendipine, binds with high affinity to head membranes in a saturable, reversible manner, showing a Kd and Bmax of 31 nM and 5.3 pmol/mg protein, respectively.