Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology: Study of a French-Canadian-Based Cohort

Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain–7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the disease in TTC7A deficiency has (have) not yet been clearly identified.To evaluate the consequences of TTC7A deficiency, we studied the morphology of several organs from HMIA patients at different developmental stages, as well as the expression of the TTC7A protein. We performed histological and immunohistochemical analyses on biopsies and autopsies of 6 patients and 1 fetus with HMIA. Moreover, we characterized for the first time the expression of the TTC7A protein by immunostaining it in several organs from control (including fetal samples), infants, and 1 fetus with HMIA.Besides the gastrointestinal tract, HMIA disease was associated with morphological alterations in multiple organs: thymus, lung, spleen, and liver. Moreover, we demonstrated that normal TTC7A protein was expressed in the cytoplasm of epithelial cells of the intestine, thymus, and pancreas. Surprisingly, altered TTC7A protein was highly expressed in tissues from patients, mainly in the epithelial cells.We have established that HMIA associated with a TTC7A defect is characterized by multiorgan impairments. Overall, this report suggests that TTC7A protein is critical for the proper development, preservation, and/or function of thymic and gastrointestinal epithelium.     

Reference tissue models in the assessment of 11C‐DTBZ binding to the VMAT2 in rat striatum: A test‐retest reproducibility study

Dopaminergic PET imaging is a useful tool to assess the dopaminergic integrity and to follow‐up longitudinal studies. The aim of this study was to evaluate the reliability and reproducibility of different reference tissue‐based methods to determine the non‐displaceable binding potential (BP_ND) as a quantitative measure of ¹¹C‐DTBZ binding to the VMAT2 in rat striatum using cerebellum as reference region. Eight healthy Wistar rats underwent two microPET scans at the age of 12 (test) and 20 weeks (retest). BP_ND was determined using the simplified reference tissue model, Logan reference tissue model, and multilinear reference tissue models (MRTMo and MRTM2). Additionally, a striatal‐to‐cerebellar‐ratio (SCR) analysis was performed. The reproducibility between the two scans was assessed using the interclass correlation coefficients (ICC) and the variability index. Repeatability indices showed acceptable ICC = 0.66 (SCR) to excellent ICC = 0.98 (MRTM2) reliability for this study and a variability ranging from 12.26% (SCR) to 3.28% (MRTM2). To the best of our knowledge, this is the first report on longitudinal studies for ¹¹C‐DTBZ in rats using reference tissue methods. Excellent intersubject and intrasubject reproducibility was obtained with the multilinear reference MRTM2, suggesting this as the best method to compare longitudinal studies, whereas the SCR method had poor reliability. Logan method, however, is a method simple to compute that shows accurate reproducibility with a reasonable level of inter‐ and intra‐subject variability allowing crossover studies to follow‐up the uptake of ¹¹C‐DTBZ in rat striatum.     

Combined radical prostatectomy and abdominoperineal resection for locally invasive rectal cancer

INTRODUCTION

An infiltration of urological organs is found in 5–10% of patients with colorectal carcinoma. Total pelvic exenteration is the standard procedure for locally advanced rectal cancer. In selected patients with rectal cancer involving the prostate or seminal vesicles, the bladder can be preserved and en bloc radical prostatectomy with abdominoperineal rectal resection can be performed. We report two patients who treated with this combined approach.

PRESENTATION OF CASE

Two patients with symptoms of rectal bleeding and pelvic pain were investigated. Colonoscopy demonstrated a tumor in the lower rectum. Biopsies revealed adenocarcinoma. Both pelvic MRI and endorectal ultrasound showed tumors that invaded the prostate and the seminal vesicles directly but without invasion of the bladder. After neoadjuvant chemoradiation, combined radical prostatectomy and abdominoperineal amputation was performed. None has developed local recurrence, but one of them was operated on for a single lung metastasis. After a follow-up of 28 and 20 months, respectively, the patients are alive without evidence of local recurrence or distant disease.

DISCUSSION

This procedure obviates the need for urinary diversion without compromising the local tumor control. Intraoperative and postoperative diagnostic difficulties, and clinical aspects in relation to postoperative anastomotic leak and survival of patients are discussed.

CONCLUSION

En bloc radical prostatectomy and proctosigmoidectomy is feasible in selected patients with rectal cancer and invasion limited to the prostate or seminal vesicles because it provides good local tumor control and significantly improves the patient''s quality of life in comparison to total pelvic exenteration.     

mHealth App for iOS to Help in Diagnostic Decision in Ophthalmology to Primary Care Physicians

Decision support systems (DSS) are increasingly demanded due that diagnosis is one of the main activities that physicians accomplish every day. This fact seems critical when primary care physicians deal with uncommon problems belonging to specialized areas. The main objective of this paper is the development and user evaluation of a mobile DSS for iOS named OphthalDSS. This app has as purpose helping in anterior segment ocular diseases’ diagnosis, besides offering educative content about ophthalmic diseases to users. For the deployment of this work, firstly it has been used the Apple IDE, Xcode, to develop the OphthalDSS mobile application using Objective-C as programming language. The core of the decision support system implemented by OphthalDSS is a decision tree developed by expert ophthalmologists. In order to evaluate the Quality of Experience (QoE) of primary care physicians after having tried the OphthalDSS app, a written inquiry based on the Likert scale was used. A total of 50 physicians answered to it, after trying the app during 1 month in their medical consultation. OphthalDSS is capable of helping to make diagnoses of diseases related to the anterior segment of the eye. Other features of OphthalDSS are a guide of each disease and an educational section. A 70% of the physicians answered in the survey that OphthalDSS performs in the way that they expected, and a 95% assures their trust in the reliability of the clinical information. Moreover, a 75% of them think that the decision system has a proper performance. Most of the primary care physicians agree with that OphthalDSS does the function that they expected, it is a user-friendly and the contents and structure are adequate. We can conclude that OphthalDSS is a practical tool but physicians require extra content that makes it a really useful one.     

Familia,economía y servicios sanitarios: claves de los cuidados en pacientes con diabetes y amputación de miembros inferiores. Estudio cualitativo en Andalucía

Aim

To examine the experience of diabetic care in patients undergoing lower limb amputation.

Clinical and histologic characteristics of breast cancers in women with previous pathologic diagnosis of benign breast disease in Spain

Women with a benign breast disease (BBD) have an increased risk of subsequent breast carcinoma. Information is scarce regarding the characteristics of breast carcinomas diagnosed after a BBD. Our aim was to point out the differences in clinical and histologic characteristics of breast carcinomas diagnosed in women with and without a previous pathologic diagnosis of BBD in the context of population‐based mammography screening. Retrospective cohort study of all women aged 50‐69 years who were screened at least once in a population‐based screening program in Spain, between 1994 and 2011 and followed up until December 2012. The mean follow‐up was 6.1 years. We analyzed 6645 breast carcinomas, of whom 238 had a previous pathologic diagnosis of BBD. Information on clinical and histologic characteristics was collected from pathology reports. Logistic regression was used to estimate the odds ratio (OR) and 95% confidence intervals (95%CI) of occurrence of selected histologic characteristics of breast carcinomas in women with and without a previous BBD. Women with a previous BBD had a higher proportion of ductal carcinoma in situ (DCIS) compared with women without a BBD (22.1% and 13.6%, respectively). Among those diagnosed with an invasive breast carcinoma, women with previous BBD were more likely to be diagnosed with carcinomas sized >2 cm (OR = 1.46; 95%CI = 1.03‐2.08), metastatic positive (OR = 2.66; 95%CI = 1.21‐5.86), and with a high Ki‐67 proliferation rate (OR = 1.93; 95%CI = 1.24‐2.99). No differences were found across histologic subtypes of BBD. Screening participants with a previous pathologic diagnosis of BBD had a higher proportion of DCIS. However, invasive carcinomas detected in women with a BBD were associated with clinical and histologic characteristics conferring a worst prognosis.     

Evaluation of a culturally adapted cognitive behavior therapy-based,third-wave therapy manual

BACKGROUND Recommendations for psychotherapy have evolved over the years, with cognitive behavioral therapy(CBT) taking precedence since its inception within clinical guidelines in the United Kingdom and United States. The use of CBT for severe mental illness is now more common globally.AIM To investigate the feasibility and acceptability of a culturally adapted, CBT-based, third-wave therapy manual using the Comprehend, Cope, and Connect approach with individuals from a diverse population prese...