The Genomic Architecture of Bladder Exstrophy Epispadias Complex

The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.

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Synaptic Reshaping and Neuronal Outcomes in the Temporal Lobe Epilepsy

International Journal of Molecular Sciences ◽

10.3390/ijms22083860 ◽

2021 ◽

Vol 22 (8) ◽

pp. 3860

Author(s):

Elisa Ren ◽

Giulia Curia

Keyword(s):

Animal Models ◽

Temporal Lobe Epilepsy ◽

Temporal Lobe ◽

Current Knowledge ◽

Focal Epilepsy ◽

Ex Vivo ◽

Hippocampal Sclerosis ◽

Control Group ◽

Epileptogenic Zone ◽

Epileptiform Discharges

Temporal lobe epilepsy (TLE) is one of the most common types of focal epilepsy, characterized by recurrent spontaneous seizures originating in the temporal lobe(s), with mesial TLE (mTLE) as the worst form of TLE, often associated with hippocampal sclerosis. Abnormal epileptiform discharges are the result, among others, of altered cell-to-cell communication in both chemical and electrical transmissions. Current knowledge about the neurobiology of TLE in human patients emerges from pathological studies of biopsy specimens isolated from the epileptogenic zone or, in a few more recent investigations, from living subjects using positron emission tomography (PET). To overcome limitations related to the use of human tissue, animal models are of great help as they allow the selection of homogeneous samples still presenting a more various scenario of the epileptic syndrome, the presence of a comparable control group, and the availability of a greater amount of tissue for in vitro/ex vivo investigations. This review provides an overview of the structural and functional alterations of synaptic connections in the brain of TLE/mTLE patients and animal models.

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Current Knowledge on Functionality and Potential Therapeutic Uses of Donkey Milk

Animals ◽

10.3390/ani11051382 ◽

2021 ◽

Vol 11 (5) ◽

pp. 1382

Author(s):

Mina Martini ◽

Iolanda Altomonte ◽

Domenico Tricò ◽

Riccardo Lapenta ◽

Federica Salari

Keyword(s):

Animal Models ◽

Randomized Clinical Trials ◽

Current Knowledge ◽

Saturated Fatty Acids ◽

Cow Milk ◽

Donkey Milk ◽

Alpha Linolenic Acid ◽

High Concentration

The increase of knowledge on the composition of donkey milk has revealed marked similarities to human milk, which led to a growing number of investigations focused on testing the potential effects of donkey milk in vitro and in vivo. This paper examines the scientific evidence regarding the beneficial effects of donkey milk on human health. Most clinical studies report a tolerability of donkey milk in 82.6–98.5% of infants with cow milk protein allergies. The average protein content of donkey milk is about 18 g/L. Caseins, which are main allergenic components of milk, are less represented compared to cow milk (56% of the total protein in donkey vs. 80% in cow milk). Donkey milk is well accepted by children due to its high concentration of lactose (about 60 g/L). Immunomodulatory properties have been reported in one study in humans and in several animal models. Donkey milk also seems to modulate the intestinal microbiota, enhance antioxidant defense mechanisms and detoxifying enzymes activities, reduce hyperglycemia and normalize dyslipidemia. Donkey milk has lower calorie and fat content compared with other milks used in human nutrition (fat ranges from 0.20% to 1.7%) and a more favourable fatty acid profile, being low in saturated fatty acids (3.02 g/L) and high in alpha-linolenic acid (about 7.25 g/100 g of fat). Until now, the beneficial properties of donkey milk have been mostly related to whey proteins, among which β-lactoglobulin is the most represented (6.06 g/L), followed by α-lactalbumin (about 2 g/L) and lysozyme (1.07 g/L). So far, the health functionality of donkey milk has been tested almost exclusively on animal models. Furthermore, in vitro studies have described inhibitory action against bacteria, viruses, and fungi. From the literature review emerges the need for new randomized clinical trials on humans to provide stronger evidence of the potential beneficial health effects of donkey milk, which could lead to new applications as an adjuvant in the treatment of cardiometabolic diseases, malnutrition, and aging.

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Orthopaedic Management of Bladder Exstrophy

Turkish Association of Pediatric Surgeons ◽

10.5222/jtaps.2021.25986 ◽

2021 ◽

Author(s):

R. Özgür Özer

Keyword(s):

Abdominal Wall ◽

Bladder Exstrophy ◽

Pelvic Osteotomy ◽

Orthopedic Procedures ◽

Suture Materials ◽

Cloacal Exstrophy ◽

Surgical Interventions ◽

Pubic Rami ◽

Multi Stage ◽

Pubic Diastasis

Bladder exstrophy is an embryologic malformation that affects urogenital and skeletal systems. Non-operative treatment of this rare problem is impossible. Urogenital reconstructions can be facilitated by orthopedic procedures. These reconstructions can be performed in a single stage as a complete repair or multi-stage approaches. The goal of the treatment is closure of the bladder and abdominal wall for the achievement of continence, preservation of renal functions, and cosmetic and functional reconstruction of genital organs. Orthopedic procedures are performed to decrease the tension that complicates the bladder and abdominal wall closure by approximating the pubic rami to achieve a secure closure and a low recurrence rate. Surgical interventions consist of the approximation of the pubic rami with different materials such as suture materials and plaque or the application of different osteotomy types such as posterior iliac, anterior pelvic (pubic), diagonal iliac, horizontal iliac and posterior pelvic resection osteotomies. The age of the patient, the amount of pubic diastasis and history of previous operations that the patient has undergone should be considered during the operation planning. Pubic rami can be approximated without performing pelvic osteotomy in patients who are operated within the first 72 hours after birth. But, osteotomy is required in children older than 2 years of age with severe pubic diastasis, concomitant cloacal exstrophy and unsuccessful operation history. The surgical team should have enough knowledge and experience to perform different osteotomy types in case of need to combine anterior and posterior iliac osteotomies. With these multidisciplinary approaches, much more successful outcomes could be achieved.

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Bladder exstrophy and epispadias

10.1093/med/9780199682874.003.0112 ◽

2021 ◽

pp. 1295-1302

Author(s):

Dan Wilby ◽

Dan Wood

Keyword(s):

Abdominal Wall ◽

Congenital Anomalies ◽

Bladder Exstrophy ◽

Urogenital Tract ◽

Complex Process

Bladder exstrophy and epispadias are congenital anomalies of the urogenital tract with deformity of the genitals as well as the pelvis, abdominal wall, and bladder in exstrophy. Reconstruction of the anomalies is a complex process with the aims of restoring function and appearance. Fertility and management of pregnancy in the exstrophy patient are also discussed in this chapter.

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DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations

International Journal of Molecular Sciences ◽

10.3390/ijms21051818 ◽

2020 ◽

Vol 21 (5) ◽

pp. 1818 ◽

Cited By ~ 4

Author(s):

Evelina Miele ◽

Rita De Vito ◽

Andrea Ciolfi ◽

Lucia Pedace ◽

Ida Russo ◽

...

Keyword(s):

Dna Methylation ◽

Soft Tissue ◽

Abdominal Wall ◽

Current Knowledge ◽

Soft Tissue Sarcomas ◽

Molecular Techniques ◽

Round Cell ◽

Undifferentiated Sarcoma ◽

Dna Methylation Profiling ◽

Methylation Profiling

Undifferentiated soft tissue sarcomas are a group of diagnostically challenging tumors in the pediatric population. Molecular techniques are instrumental for the categorization and differential diagnosis of these tumors. A subgroup of recently identified soft tissue sarcomas with undifferentiated round cell morphology was characterized by Capicua transcriptional receptor (CIC) rearrangements. Recently, an array-based DNA methylation analysis of undifferentiated tumors with small blue round cell histology was shown to provide a highly robust and reproducible approach for precisely classifying this diagnostically challenging group of tumors. We describe the case of an undifferentiated sarcoma of the abdominal wall in a 12-year-old girl. The patient presented with a voluminous mass of the abdominal wall, and multiple micro-nodules in the right lung. The tumor was unclassifiable with current immunohistochemical and molecular approaches. However, DNA methylation profiling allowed us to classify this neoplasia as small blue round cell tumor with CIC alterations. The patient was treated with neoadjuvant chemotherapy followed by complete surgical resection and adjuvant chemotherapy. After 22 months, the patient is disease-free and in good clinical condition. To put our experience in context, we conducted a literature review, analyzing current knowledge and state-of-the-art diagnosis, prognosis, and clinical management of CIC rearranged sarcomas. Our findings further support the use of DNA methylation profiling as an important tool to improve diagnosis of non-Ewing small round cell tumors.

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Role of microRNAs in Venous Thromboembolism

International Journal of Molecular Sciences ◽

10.3390/ijms21072602 ◽

2020 ◽

Vol 21 (7) ◽

pp. 2602 ◽

Cited By ~ 1

Author(s):

Vânia M. Morelli ◽

Sigrid K. Brækkan ◽

John-Bjarne Hansen

Keyword(s):

Venous Thromboembolism ◽

Animal Models ◽

Statistical Power ◽

Current Knowledge ◽

Thrombus Formation ◽

Therapeutic Targets ◽

Small Sample ◽

Future Research ◽

Gene Expressions

MicroRNAs (miRNAs) are non-coding RNAs that execute their function by targeted downregulation of gene expressions. There is growing evidence from epidemiological studies and animal models suggesting that the expression level of miRNAs is dysregulated in venous thromboembolism (VTE). In this review, we summarize the current knowledge on the role of miRNAs as biomarkers for VTE and provide general insight into research exploring the modulation of miRNA activity in animal models of venous thrombosis. Up to now, published studies have yielded inconsistent results on the role of miRNAs as biomarkers for VTE with most of the reports focused on diagnostic research. The limited statistical power of the individual studies, due to the small sample sizes, may substantially contribute to the poor reproducibility among studies. In animal models, over-expression or inhibition of some miRNAs appear to influence venous thrombus formation and resolution. However, there is an important gap in knowledge on the potential role of miRNAs as therapeutic targets in VTE. Future research involving large cohorts should be designed to clarify the clinical usefulness of miRNAs as biomarkers for VTE, and animal model studies should be pursued to unravel the role of miRNAs in the pathogenesis of VTE and their potential as therapeutic targets.

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Approaching Type 2 Diabetes Mellitus by Systems Biology

Handbook of Research on Systems Biology Applications in Medicine ◽

10.4018/978-1-60566-076-9.ch022 ◽

2009 ◽

pp. 361-376

Author(s):

Axel Rasche

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Type 2 Diabetes Mellitus ◽

Systems Biology ◽

Animal Models ◽

High Throughput ◽

Complex Disease ◽

Current Knowledge ◽

High Throughput Experimentation

We acquired new computational and experimental prospects to seek insight and cure for millions of afflicted persons with an ancient malady. Type 2 diabetes mellitus (T2DM) is a complex disease with a network of interactions among several tissues and a multifactorial pathogenesis. Research conducted in human and multiple animal models has strongly focused on genetics so far. High-throughput experimentation technics like microarrays provide new tools at hand to amend current knowledge. By integrating those results the aim is to develop a systems biology model assisting the diagnosis and treatment. Beside experimentation techniques and platforms or rather general concepts for a new term in biology and medicine this chapter joins the conceptions with a rather actual medical challenge. It outlines current results and envisions a possible alley to the comprehension of T2DM.

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Stem Cells and Tissue Engineering Techniques

Urologia Journal ◽

10.5301/ru.2013.10762 ◽

2013 ◽

Vol 80 (1) ◽

pp. 11-19

Author(s):

Gigliola Sica

Keyword(s):

Tissue Engineering ◽

Stem Cells ◽

Clinical Trials ◽

Stem Cell ◽

Urinary Tract ◽

Animal Models ◽

Embryonic Stem ◽

Cell Types ◽

Ethical Concerns ◽

Neoplastic Lesions

The therapeutic use of stem cells and tissue engineering techniques are emerging in urology. Here, stem cell types, their differentiating potential and fundamental characteristics are illustrated. The cancer stem cell hypothesis is reported with reference to the role played by stem cells in the origin, development and progression of neoplastic lesions. In addition, recent reports of results obtained with stem cells alone or seeded in scaffolds to overcome problems of damaged urinary tract tissue are summarized. Among others, the application of these biotechnologies in urinary bladder, and urethra are delineated. Nevertheless, apart from the ethical concerns raised from the use of embryonic stem cells, a lot of questions need to be solved concerning the biology of stem cells before their widespread use in clinical trials. Further investigation is also required in tissue engineering utilizing animal models.

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Scar Endometriosis in a Patient With Bladder Exstrophy

International Surgery ◽

10.9738/intsurg-d-12-00011.1 ◽

2013 ◽

Vol 98 (2) ◽

pp. 145-148 ◽

Cited By ~ 1

Author(s):

Takahito Kitajima ◽

Mikihiro Inoue ◽

Keiichi Uchida ◽

Kohei Otake ◽

Masato Kusunoki

Keyword(s):

Abdominal Wall ◽

Bladder Exstrophy ◽

Uterine Cavity ◽

Excisional Biopsy ◽

High Signal ◽

Resonance Imaging ◽

Scar Endometriosis ◽

Abdominal Magnetic Resonance Imaging ◽

History Of ◽

Lower Abdominal Wall

Abstract Endometriosis is an ectopic occurrence of tissue morphologically and functionally resembling endometrial tissue in regions outside the uterine cavity. Although scar endometriosis after surgery has been shown to be most common among all the extrapelvic forms of endometriosis, endometriosis after bladder exstrophy surgery has not been reported, and here we present the first known case. A 26-year-old woman with a history of bladder exstrophy was aware of a painful induration at the operative scar located in the left lower abdominal wall, and presented at our hospital. Although the symptoms resolved, recurring exacerbation was observed after 9 months. Abdominal magnetic resonance imaging showed a heterogeneous mass 16 mm in diameter in the left abdominal wall with high signal intensity on T1W1 and T2W1 images. She underwent excisional biopsy of the lesion under general anesthesia. Histopathology confirmed the diagnosis of endometriosis. Eighteen months after surgery, she was well and free from recurrence.

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