Notch1 hallmarks fibrillary depositions in sporadic Alzheimer’s disease

Background: Notch1 signaling is a cellular cascade with a fundamental role from brain development to adult brain function. Reduction in Notch1 affects synaptic plasticity, memory and olfaction. On the other hand, Notch1 overactivation after brain injury is detrimental for neuronal survival. Some familial Alzheimer’s disease (FAD) mutations in Presenilins can affect Notch1 processing/activation. Others report that Notch1 is overexpressed in sporadic Alzheimer’s disease (AD). These works indicate that imbalances in Notch1 may be implicated in AD pathophysiology. In this study, we addressed whether Notch1 alteration can be considered a hallmark of AD.Results: Immunohistochemical analysis of Notch1 on cortical and hippocampal tissue from post-mortem patients indicates an accumulation of Notch1 in plaque-like structures in the brain parenchyma of subjects with sporadic AD. Further analysis shows that displaced Notch1 is associated with fibrillary tangles/plaques. Biochemical validation confirms an accumulation of Notch1 in cytosolic brain fractions. This increase in protein is not accompanied with a raise in the Notch1 targets Hes1 and Hey1. Examination of the cerebrospinal fluid (CSF) indicates that the full length and truncations of the Notch1 protein are reduced in AD patients hinting at an accumulation in the brain parenchyma.Conclusions: Our research indicates that Notch1 is significantly displaced and accumulated in fibrillary structures in the susceptible hippocampal and cortical regions of sporadic AD patients. The dominant deposition of Notch1 in the brain parenchyma and its general signal reduction in neurons is consistent in all the AD patients analyzed and suggests that Notch1 may potentially be considered a novel hallmark of AD

The non-communicating rudimentary horn: diagnostic and therapeutic challenges

We describe the case of a 23-year-old nulligravid woman who complained of increasing post-menstrual lower abdominal pain. She used contraceptives permanently for three months and was referred with a sub-mucosal lesion suspicious for a type 2 fibroid to be resected. During hysteroscopy, no fibroid mass could be confirmed. A post-operatively performed ultrasound including hydrosonography demonstrated a lesion highly suspicious for a uterus unicollis with a non-communicating uterine horn and a haematometra. Laparoscopy confirmed a normal outer lining of the uterus with hypoplastic tube on the right side. Referring to pre-operative findings, a broadly based uterine horn including a large haematometra was diagnosed. We performed a laparoscopic resection of the rudimentary horn and a right salpingectomy. The patient could be discharged without any complications three days late

Does bladder wall thickness decrease when obstruction is resolved?

Introduction and hypothesis: The aim of the current study was to determine if sonographic bladder wall thickness diminishes after symptomatic obstruction is resolved in female patients after stress incontinence surgery. Methods: Between December 2008 and December 2010, 62 female patients with symptomatic bladder outlet obstruction, as defined by Blaivas, who had undergone prior surgery for urinary stress incontinence were included in the study. The patients' history was taken and symptoms were noted. Patients underwent gynaecological examination, and multichannel urodynamic assessment was performed. Vaginal sonographic assessment of the bladder wall thickness (BWT) was performed before and after urethrolysis. Results: 62 patients were included in this study, 55 of whom had undergone suburethral sling insertion and seven had Burch colposuspension. Postoperatively, BWT decreased significantly from 9.1mm ± 2.1 to 7.6mm ± 2.2 (p < 0.0001). In seven patients, obstruction was still unresolved postoperatively; of these, two had undergone a retropubic sling insertion and two had a Burch colposuspension. An ROC curve analysis showed a significant positive association between residual urine and persistent obstruction before surgery (AUC 0.76, 95%CI 0.58-0.94; p < 0.05). Conclusions: If obstruction is resolved, bladder wall thickness decreases. Preoperatively elevated residual urine may increase the risk of persistent obstruction after urethrolysi

Case report: transient small bowel intussusception presenting as right lower quadrant pain in a 6-year-old male

In children presenting to the emergency room with right lower quadrant pain, ultrasound is the preferred initial modality. In our patient, a 6-year-old male with a sudden onset of severe right lower quadrant pain, the differential is broad, including appendicitis and intussusception. In order to narrow our differential and secure the diagnosis, our first modality was ultrasonography. With the increased use of point-of-care ultrasound in the emergency department, the diagnosis of appendicitis and ileo-colic intussusception has been made more frequently. In addition, other entities such as transient small bowel intussusception may be identified. As in our case, obstruction secondary to intussusception must be ruled out with observation, serial abdominal exams, clinical improvement, or further imaging

Recombinant human factor VIIa prevents hysterectomy in severe postpartum hemorrhage: single center study

Objective: To evaluate the effectiveness of human recombinant activated factor VII (rhFVIIa, NovoSeven) in avoiding hysterectomy postpartum in the management of severe postpartum hemorrhage (PPH). Methods: We performed a prospective cohort study at our university tertiary care center. Patients with severe post partum hemorrhage (blood loss >2000 mL) and failed medical and uterus-preserving surgical management, were treated with intravenous bolus administration of rhVIIa. Main outcome measures were cessation of bleeding, postpartum hysterectomy and thromboembolic events. Results: In 20/22 patients included, PPH was caused primarily by uterine atony, including 7 (32%) with additional lower genital tract lesion; in two women, it was due to pathologic placentation (placenta increta, 9%). One case of amniotic fluid embolism and one woman with uterine inversion were included. Recombinant hFVIIa was successful in stopping the PPH and in preventing a hysterectomy in 20/22 women (91%). The remaining two patients with persistent bleeding despite rhFVIIa treatment, who underwent postpartum hysterectomy, had placenta increta. No thromboembolic event was noticed. Conclusions: This study describes the largest single center series of rhFVIIa treatment for fertility preservation in severe postpartum hemorrhage published to date. Our data suggest that administration of rhFVIIa is effective in avoiding postpartum hysterectomy after conservative medical and surgical measures have failed. Although randomized studies are lacking, rhFVIIa should be considered as a second-line therapeutic option of life-threatening postpartal bleeding, in particular if preservation of fertility is warranted and hysterectomy is to be avoide

Prospective navigator-echo-based real-time triggering of fetal head movement for the reduction of artifacts

The purpose of this study was to evaluate the neuroimaging quality and accuracy of prospective real-time navigator-echo acquisition correction versus untriggered intrauterine magnetic resonance imaging (MRI) techniques. Twenty women in whom fetal motion artifacts compromised the neuroimaging quality of fetal MRI taken during the 28.7 ± 4week of pregnancy below diagnostic levels were additionally investigated using a navigator-triggered half-Fourier acquired single-shot turbo-spin echo (HASTE) sequence. Imaging quality was evaluated by two blinded readers applying a rating scale from 1 (not diagnostic) to 5 (excellent). Diagnostic criteria included depiction of the germinal matrix, grey and white matter, CSF, brain stem and cerebellum. Signal-difference-to-noise ratios (SDNRs) in the white matter and germinal zone were quantitatively evaluated. Imaging quality improved in 18/20 patients using the navigator echo technique (2.4 ± 0.58 vs. 3.65 ± 0.73 SD, p < 0.01 for all evaluation criteria). In 2/20 patients fetal movement severely impaired image quality in conventional and navigated HASTE. Navigator-echo imaging revealed additional structural brain abnormalities and confirmed diagnosis in 8/20 patients. The accuracy improved from 50% to 90%. Average SDNR increased from 0.7 ± 7.27 to 19.83 ± 15.71 (p < 0.01). Navigator-echo-based real-time triggering of fetal head movement is a reliable technique that can deliver diagnostic fetal MR image quality despite vigorous fetal movemen

Prenatal diagnosis and treatment planning of congenital heart defects—possibilities and limits

Background: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation. Data sources: PubMed database was searched with terms of "congenital heart defects”, "fetal echocardiography” and "neonatal cardiac surgery”. Results: At present, early prenatal detection has been applied for monitoring pregnancy to avoid intrauterine cardiac decompensation. In principle, the majority of congenital heart defects can be diagnosed by prenatal echocardiography and the detection rate is 85%-95% at tertiary perinatal centers. The majority, particularly of complex congenital lesions, show a steadily progressive course including subsequent secondary phenomena such as arrhythmias or myocardial insufficiency. So prenatal treatment of an abnormal fetus is an area of perinatal medicine that is undergoing a very dynamic development. Early postnatal treatment is established for some time, and prenatal intervention or palliation is at its best experimental stage in individual cases. Conclusion: The upcoming expansion of fetal cardiac intervention to ameliorate critically progressive fetal lesions intensifies the need to address issues about the adequacy of technological assessment and patient selection as well as the morbidity of those who undergo these procedure

Umbilical endometriosis

We report two women who presented with a recurrent, mildly painful, bluish nodule in the umbilicus. Both patients complained of local tenderness and occasional bleeding that increased during menstruation. Neither patient had had previous pelvic surgery. Excision of the lesions revealed a primary umbilical endometriosis; in one case, a simultaneous laparoscopy showed a pelvic endometriosis. We review the current literature and discuss the possible etiopathogenesis and when a laparoscopy is indicated to diagnose a concomitant pelvic endometriosis. Umbilical endometriosis is a very rare disease but should be considered in the differential diagnosis of umbilical lesion

Equilíbrio e risco de quedas em crianças com deficiência visual

Introdução: O comprometimento do sistema visual pode reduzir a estabilidade, resultando em aumento da oscilação corporal e/ou alteração da estratégia de movimento. Objetivo: Avaliar o equilíbrio em crianças com deficiência visual (DV),em fase escolar. Métodos: Foram avaliados cinco participantes, com diagnóstico de baixa visão (P1 e P5) e cegueira total (P2, P3 e P4). A avaliação foi realizada por meio de questionário, aplicação de teste clínico e avaliação do equilíbrio (EEP e PF BIOMEC 400). Resultados: O escore total da EEP de P1, P2 e P4 foi 56 pontos; de P3, 53; e de P5, 55 pontos. Na PF, P1 e P5 obtiveram melhor manutenção do equilíbrio. Todos os participantes apresentaram dificuldade em ficar em apoio unipodal. Conclusão: As crianças com DV são capazes de realizar as AVDs, mas podem apresentar maior risco de quedas, principalmente nas que exigem a posição unipodal. Introduction: The involvement of the visual system can reduce the stability, re-sulting in increased body sway and/or change in movement strategy. Objective: To evaluate the balance in children with visual impairment (DV) on the school stage. Methods: A total of five participants diagnosed with low vision (P1 and P5) and total blindness (P2, P3 and P4) were analysed. The evaluation was con-ducted through a questionnaire, clinical trial implementationand evaluation of the balance (EEP and PF 400 biomec). Results: The total score of EEP P1, P2 and P4 was 56 points, P3 was 53, and P5 was 55 points. In PF, P1 and P5 had better main-tain balance. All participants had trouble staying on leg support. Conclusion: Children with DV are able to perform ADLs, but may be at greater risk of falls, especially those that require a single leg stance