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Fetal and Pediatric Pathology 2014This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating... (Review)
Review
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.
Topics: Child; Humans; Kidney; Urogenital Abnormalities
PubMed: 25313840
DOI: 10.3109/15513815.2014.959678 -
Frontiers in Cell and Developmental... 2022Regenerating islet-derived 4 (REG4) gene was discovered by high-throughput sequencing of ulcerative colitis cDNA libraries. REG4 is involved in infection and... (Review)
Review
Regenerating islet-derived 4 (REG4) gene was discovered by high-throughput sequencing of ulcerative colitis cDNA libraries. REG4 is involved in infection and inflammation by enhancing macrophage polarization to M2, via activation of epidermal growth factor receptor (EGFR)/Akt/cAMP-responsive element binding and the killing inflammatory , and closely linked to tumorigenesis. Its expression was transcriptionally activated by caudal type homeobox 2, GATA binding protein 6, GLI family zinc finger 1, SRY-box transcription factor 9, CD44 intracytoplasmic domain, activating transcription factor 2, and specificity protein 1, and translationally activated by miR-24. REG4 can interact with transmembrane CD44, G protein-coupled receptor 37, mannan and heparin on cancer cells. Its overexpression was observed in gastric, colorectal, pancreatic, gallbladder, ovarian and urothelial cancers, and is closely linked to their aggressive behaviors and a poor prognosis. Additionally, REG4 expression and recombinant REG4 aggravated such cellular phenotypes as tumorigenesis, proliferation, anti-apoptosis, chemoradioresistance, migration, invasion, peritoneal dissemination, tumor growth, and cancer stemness via EGFR/Akt/activator protein-1 and Akt/glycogen synthase kinase three β/β-catenin/transcription factor 4 pathways. Sorted REG4-positive deep crypt secretory cells promote organoid formation of single Lgr5 (+) colon stem cells by Notch inhibition and Wnt activation. Histologically, REG4 protein is specifically expressed in neuroendocrine tumors and signet ring cell carcinomas of the gastrointestinal tract, pancreas, ovary, and lung. It might support the histogenesis of gastric intestinal-metaplasia-globoid dysplasia-signet ring cell carcinoma. In this review, we summarized the structure, biological functions, and effects of REG4 on inflammation and cancer. We conclude that REG4 may be employed as a biomarker of tumorigenesis, subsequent progression and poor prognosis of cancer, and may be a useful target for gene therapy.
PubMed: 36172286
DOI: 10.3389/fcell.2022.1012193 -
Frontiers in Veterinary Science 2023Caudal articular process (CAP) dysplasia is a congenital vertebral malformation that results from the failure of ossification center of articular process located in...
Caudal articular process (CAP) dysplasia is a congenital vertebral malformation that results from the failure of ossification center of articular process located in vertebrae, which includes aplasia or hypoplasia. In previous studies, it was reported to be common in small and chondrodystrophic dogs however, investigated in limited breeds. So we aimed to confirm the prevalence and the characteristics of CAP dysplasia in various breeds, and also to investigate the association of CAP dysplasia and spinal cord myelopathy in neurologically abnormal dogs. In this multicenter, retrospective study, the clinical records and thoracic vertebral column computed tomographic (CT) images of 717 dogs between February 2016 and August 2021 were included and 119 dogs which also underwent magnetic resonance imaging (MRI) examination were evaluated. Overall, 337 of 717 dogs (47.0%) had at least one thoracic CAP dysplasia and the prevalence of CAP dysplasia was significantly higher in dogs with a lower body weight ( < 0.0001). A total of 66.4% of toy breeds, 39.0% of small breeds, 20.2% of medium breeds, and 6.0% of large breeds were affected by at least one CAP dysplasia. The most affected vertebra was T4 in toy (48.1%) and small breeds (20.8%), and T5 in medium (20.8%) and large breeds (5.0%). In all groups, prevalence of CAP dysplasia between T1 and T9 was higher than post-diaphragmatic vertebrae (T10-T13). Fifty nine of 119 dogs which underwent both CT and MRI examination had symptoms of spinal cord myelopathy of T3-L3 and twenty-five of 59 dogs (42.3%) had at least one thoracic CAP dysplasia. In that 25 neurologically abnormal dogs, 41 sites of intervertebral disc disease (IVDD) were detected. However, only one dog had both CAP dysplasia and herniated disc at the same level. Also, CAP dysplasia associated non-compressive spinal myelopathy at the same level was found in the other dog. Association CAP dysplasia with spinal myelopathy is speculated but is not confirmed by this study.
PubMed: 36876007
DOI: 10.3389/fvets.2023.1066420 -
PloS One 2023General anesthetics can cause neurological damage and long-term behavioral/cognitive impairment during fetal and early postnatal life. However, the adverse influence on...
General anesthetics can cause neurological damage and long-term behavioral/cognitive impairment during fetal and early postnatal life. However, the adverse influence on embryo development induced by propofol is unclear. We used embryonic zebrafish to explore the effects of propofol on embryonic and larval growth and development, and the related apoptotic mechanism. Zebrafish embryos were immersed in propofol (1, 2, 3, 4, and 5 μg/ml) dissolved in E3 medium from 6 to 48 hours post fertilization (hpf). The survival rate, locomotion, heart rate, hatchability, deformity rate, and body length were analyzed at defined stages. Terminal deoxynucleotidyl transferase nick-end-labeling was used to detect zebrafish embryo apoptosis, and the expression levels of apoptosis-related genes were determined using quantitative real-time reverse transcription PCR and whole-mount in situ hybridization. Larvae at 48 hpf were anesthetized by immersion in E3 culture medium containing 2 μg/ml propofol, the reasonable anesthetic concentration for zebrafish embryos, which caused significant caudal fin dysplasia, light pigmentation, edema, hemorrhage, and spinal deformity, and decreased the hatchability, body length, and heart rate. The numbers of apoptotic cells in propofol-treated 12, 48 and 72 hpf embryos increased significantly, and the mRNA expression levels of intrinsic apoptosis pathway-related casp3a, casp3b, casp9, and baxb genes were upregulated, mainly in the head and tail. Propofol decreased apoptosis in the head and back of 24 hpf zebrafish, which was consistent with the mRNA expression analysis. Our findings demonstrated that zebrafish embryos and larvae exposed to propofol experienced developmental toxicity, which correlated with the intrinsic apoptosis pathway with casp3a, casp3b, casp9, and baxb as the key genes.
Topics: Animals; Zebrafish; Propofol; Embryo, Nonmammalian; Apoptosis; RNA, Messenger; Larva
PubMed: 37253050
DOI: 10.1371/journal.pone.0286391 -
Veterinary Sciences Feb 2023The subject of hip dysplasia in dogs is still current and preoccupies both animal owners and veterinarians. Major factors affecting the development of the disorder are...
The subject of hip dysplasia in dogs is still current and preoccupies both animal owners and veterinarians. Major factors affecting the development of the disorder are hip laxity and incongruent joints. Many studies on etiology, pathogenesis, and early diagnosis have been performed to reduce prevalence and select healthy dogs for breeding. The purpose of the present study was to investigate a possible relationship between dysplasia and femoral head area (FHA), femoral coverage by the acetabulum (CFH) and cranio-caudal distance of the dorsal acetabular rim (CrCdAR). Radiographs of a total of 264 skeletally mature dogs with similar physical characteristics (German wirehaired pointers (GWP), German shepherd dogs (GSD) and Labrador retrievers (LAB)) presented for routine hip dysplasia screening were recruited for the study. FHA, CFH and CrCdAR were measured and related to dysplasia status. Evaluations of FHA ( = 0.011), CFH ( < 0.001) and CrCdAR length ( = 0.003) measurements revealed significant interactions between breed, sex and FCI scores, so they had to be assessed separately. The results revealed that FHA tends to decrease as the hip dysplasia score worsens. There was no significant relationship between FHA and dysplasia assessment. FHA is breed-specific and is larger in normal and near-normal male ( = 0.001, = 0.020) and female ( = 0.001, = 0.013) GWP compared to GSD, respectively. FHA is greater in normal male GWP ( = 0.011) and GSD ( = 0.040) compared to females. There was a significant and strong positive correlation between FHA and CrCdAR in all breeds and sexes. Additionally, FCI scoring had a medium (GWP, GSD) to strong (LAB) negative correlation with CFH.
PubMed: 36851424
DOI: 10.3390/vetsci10020120 -
Veterinary Radiology & Ultrasound : the... Jul 2018The aims of this study were to evaluate the prevalence and anatomical characteristics of thoracic caudal articular process dysplasia in French bulldogs, English bulldogs...
The aims of this study were to evaluate the prevalence and anatomical characteristics of thoracic caudal articular process dysplasia in French bulldogs, English bulldogs and Pugs presenting for problems unrelated to spinal disease. In this retrospective cross-sectional study, computed tomography scans of the thoracic vertebral column of these three breeds were reviewed for the presence and location of caudal articular process hypoplasia and aplasia, and compared between breeds. A total of 271 dogs met the inclusion criteria: 108 French bulldogs, 63 English bulldogs, and 100 Pugs. A total of 70.4% of French bulldogs, 84.1% of English bulldogs, and 97.0% of Pugs showed evidence of caudal articular process dysplasia. Compared to French and English bulldogs, Pugs showed a significantly higher prevalence of caudal articular process aplasia, but also a lower prevalence of caudal articular process hypoplasia, a higher number of affected vertebrae per dog and demonstrated a generalized and bilateral spatial pattern more frequently. Furthermore, Pugs showed a significantly different anatomical distribution of caudal articular process dysplasia along the vertebral column, with a high prevalence of caudal articular process aplasia between T10 and T13. This area was almost completely spared in French and English bulldogs. As previously suggested, caudal articular process dysplasia is a common finding in neurologically normal Pugs but this also seems to apply to French and English bulldogs. The predisposition of clinically relevant caudal articular process dysplasia in Pugs is possibly not only caused by the higher prevalence of caudal articular process dysplasia, but also by breed specific anatomical characteristics.
Topics: Animals; Bone Diseases, Developmental; Cross-Sectional Studies; Dog Diseases; Dogs; Female; Male; Prevalence; Retrospective Studies; Thoracic Vertebrae; Tomography, X-Ray Computed
PubMed: 29464823
DOI: 10.1111/vru.12609 -
Journal of Veterinary Internal Medicine Mar 2023Constrictive myelopathy (CM) involving a fibrous band around the spinal cord is a newly recognized disease in pug dogs.
BACKGROUND
Constrictive myelopathy (CM) involving a fibrous band around the spinal cord is a newly recognized disease in pug dogs.
OBJECTIVES
To identify the frequency of CM based on diagnostic imaging supplemented with necropsy; to determine whether a relationship exists between the sites of CM and other described T3-L3 myelopathies; and to determine the frequency of caudal articular process dysplasia (CAPD).
ANIMALS
Thirty-two client-owned pug dogs diagnosed with a chronic, progressive T3-L3 myelopathy based on neurological examination performed by a board-certified neurologist.
METHODS
This is a prospective study. All dogs underwent computed tomography (CT) and magnetic resonance imaging (MRI) reviewed by a board-certified radiologist. Magnetic resonance imaging abnormalities were categorized into diseases; CM only, CM plus other non-CM condition(s), or non-CM condition. Sites of CAPD were reported on CT. Nineteen dogs underwent necropsy.
RESULTS
Magnetic resonance imaging revealed 3 dogs with CM only, 17 with CM plus at least 1 other myelopathy, 11 dogs with non-CM myelopathies only, and 1 with no MRI abnormalities. Nineteen of 32 dogs had >1 myelopathy diagnosis on MRI whereas 15/32 had >1 site of spinal cord compression. All dogs had CAPD at >1 site in the T3-L3 vertebral column on CT.
CONCLUSIONS AND CLINICAL IMPORTANCE
Constrictive myelopathy affected more than half of pug dogs presenting with chronic thoracolumbar myelopathies. Most had multilevel disease, concurrent myelopathies, or both. There was no apparent relationship between anatomic locations of CAPD and most severe myelopathy or myelopathy type.
Topics: Dogs; Animals; Prospective Studies; Thoracic Vertebrae; Dog Diseases; Spinal Cord Diseases; Spinal Cord Compression; Magnetic Resonance Imaging; Chronic Disease
PubMed: 36744714
DOI: 10.1111/jvim.16639 -
The British Journal of Radiology Jul 2021Achondroplasia is the commonest hereditary skeletal dysplasia exhibiting dwarfism with characteristic rhizomelic (proximal) shortening of the limbs. It is predominantly... (Review)
Review
Achondroplasia is the commonest hereditary skeletal dysplasia exhibiting dwarfism with characteristic rhizomelic (proximal) shortening of the limbs. It is predominantly linked with an autosomal dominant inheritance, but sporadic mutations can occur which are associated with advanced maternal age. Approximately 1 in every 25 000-30 000 live births are affected, and the overall life expectancy is marginally reduced by ~10 years. Mutations in the fibroblast growth factor receptor causes a decrease in endochondral ossification, which results in stunted growth of cartilaginous bones. A resultant narrowed foramen magnum and a short clivus are seen which predisposes to craniocervical spinal canal stenosis. Apnoeic events arising from the compression of the vertebral arteries at the level of the craniocervical junction lead to fatality in the young, with a death rate as high as 7.5%. Decrease in the caudal inter-pedicular distance is characteristic and a contributory factor for cervical, thoracic and lumbar spinal canal stenosis, most pronounced in the lumbar spine with patients often requiring surgical intervention to ease symptoms. Thoracolumbar kyphoscoliosis and sacral manifestations such as small sacro-sciatic notches and a horizontal pelvis are seen. The aim of this pictorial review is to demonstrate the imaging findings of the spinal and pelvic manifestations of achondroplasia.
Topics: Achondroplasia; Humans; Pelvic Bones; Spinal Diseases
PubMed: 33914619
DOI: 10.1259/bjr.20210223