Development Of Cysts Research Articles

Lumpy skin disease of snakeskin gourami: A new record of metacercariae of Posthodiplostomum sp. (Digenea, Diplostomidae) in clinically sick snakeskin gourami, Trichopodus pectoralis Regan, 1910 (Pisces, Osphronemidae)

Here, we report on two cases of disease with scattered, pronounced sub-epithelial swellings in the body of cultured snakeskin gourami (Trichopodus pectoralis) fingerlings from two independent farm sites. Locally, the condition is known colloquially as “lumpy skin disease”. The abnormal raised distortions of the skin were due to encysted metacercaria beneath the skin and deeper, within the subcutaneous musculature. Host reaction resulted in a thick, colourless, opalescent wall of the parasitic cyst. Excysted specimens were identified as metacercariae belonging to the genus Posthodiplostomum (Digenea, Diplostomidae) based on a combination of morphology and molecular analysis. Phylogenetically, using SSU rRNA genes, the isolate formed an independent cluster with other unnamed species Posthodiplostomum sp. from snakeheads (Channa spp.) reported from Japan and India; all the parasites in this group had metacercarial cysts with no or few melanophores. The development of parasite cysts resulted in pronounced skin distortions in cultured fingerlings and may be associated with the consequential high rates of morbidity and mortality. This case study is the first report of Posthodiplostomum sp. metacercariae in snakeskin gourami, adding to the growing range of host species infected with the genus. The severity and mortality associated with infection, however, requires further investigation together with a need to identify the precise species present.

Parenchyma Preserving Surgery in Giant Hydatid Cyst of Lung: A Case Report

Cystic echinococcosis (CE) is parasitic infestation characterized by the development of cyst as a consequence of the parasitization of humans by the larval stages of cestode Echinococcus granulosus. We present a case of 66 years old man who presented with a history of dry cough, mild fever and occasional shortness of breath for 1 year, which was gradually progressive with no history of chest pain or weight loss. Chest x-ray revealed a well-circumscribed homogenous opacity in the right hemithorax. Computed tomography (CT) of the chest revealed a large cystic lesion 18× 15 × 14 cm in the right hemithorax involving the whole of the right lower lobe and causing compression atelectasis of the middle lobe. The patient underwent lung preserving surgery with cystectomy and capotionnage. The patient was discharged on the 6th postoperative with a good clinical and radiological outcome. This case report highlights that lung-preserving surgery can be performed in giant hydatid cysts with a good outcome.

Ovary micromorphology in hormogastrid earthworms with a particular emphasis on the organization of the germline cysts

There is a gap in our knowledge of microorganization and the functioning of ovaries in earthworms (Crassiclitellata) and allied taxa. Recent analyses of ovaries in microdriles and leech-like taxa revealed that they are composed of syncytial germline cysts accompanied by somatic cells. Although the pattern of cyst organization is conserved across Clitellata – each cell is connected via one intercellular bridge (ring canal) to the central and anuclear cytoplasmic mass termed the cytophore – this system shows high evolutionary plasticity. In Crassiclitellata, only the gross morphology of ovaries and their segmental localization is well known, whereas ultrastructural data are limited to lumbricids like Dendrobaena veneta. Here we present the first report about ovarian histology and ultrastructure in Hormogastridae, a small family of earthworms inhabiting the western parts of the Mediterranean sea basin. We analyzed three species from three different genera and showed that the pattern of ovary organization is the same within this taxon. Ovaries are cone-like, with a broad part connected to the septum and a narrow distal end forming an egg string. Ovaries are composed of numerous cysts uniting a small number of cells, eight in Carpetania matritensis. There is a gradient of cysts development along the long ovary axis, and three zones can be distinguished. In zone I, cysts develop in complete synchrony and unite oogonia and early meiotic cells (till diplotene). Then (zone II), the synchrony is lost, and one cell (prospective oocyte) grows faster than the rest (prospective nurse cells). In zone III, oocytes pass the growth phase and gather nutrients; at this time, their contact with the cytophore is lost. Nurse cells grow slightly, eventually die via apoptosis, and are removed by coelomocytes. The most characteristic feature of hormogastrid germ cysts is the inconspicuous cytophore in the form of thread-like thin cytoplasmic strands (reticular cytophore). We found that the ovary organization in studied hormogastrids is very similar to that described for D. veneta and propose the term "Dendrobaena" type of ovaries. We expect the same microorganization of ovaries will be found in other hormogastrids and lumbricids.

Metabolism-based approaches for autosomal dominant polycystic kidney disease.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) leads to end stage kidney disease (ESKD) through the development and expansion of multiple cysts throughout the kidney parenchyma. An increase in cyclic adenosine monophosphate (cAMP) plays an important role in generating and maintaining fluid-filled cysts because cAMP activates protein kinase A (PKA) and stimulates epithelial chloride secretion through the cystic fibrosis transmembrane conductance regulator (CFTR). A vasopressin V2 receptor antagonist, Tolvaptan, was recently approved for the treatment of ADPKD patients at high risk of progression. However additional treatments are urgently needed due to the poor tolerability, the unfavorable safety profile, and the high cost of Tolvaptan. In ADPKD kidneys, alterations of multiple metabolic pathways termed metabolic reprogramming has been consistently reported to support the growth of rapidly proliferating cystic cells. Published data suggest that upregulated mTOR and c-Myc repress oxidative metabolism while enhancing glycolytic flux and lactic acid production. mTOR and c-Myc are activated by PKA/MEK/ERK signaling so it is possible that cAMPK/PKA signaling will be upstream regulators of metabolic reprogramming. Novel therapeutics opportunities targeting metabolic reprogramming may avoid or minimize the side effects that are dose limiting in the clinic and improve on the efficacy observed in human ADPKD with Tolvaptan.

Functional TFEB activation characterizes multiple models of renal cystic disease and loss of polycystin-1.

Polycystic kidney disease is a disorder of renal epithelial growth and differentiation. Transcription factor EB (TFEB), a master regulator of lysosome biogenesis and function, was studied for a potential role in this disorder. Nuclear translocation and functional responses to TFEB activation were studied in three murine models of renal cystic disease, including knockouts of folliculin, folliculin interacting proteins 1 and 2, and polycystin-1 (Pkd1) as well as in mouse embryonic fibroblasts lacking Pkd1 and three-dimensional cultures of Madin-Darby canine kidney cells. Nuclear translocation of Tfeb characterized cystic but not noncystic renal tubular epithelia in all three murine models as both an early and sustained response to cyst formation. Epithelia expressed elevated levels of Tfeb-dependent gene products, including cathepsin B and glycoprotein nonmetastatic melanoma protein B. Nuclear Tfeb translocation was observed in mouse embryonic fibroblasts lacking Pkd1 but not wild-type fibroblasts. Pkd1 knockout fibroblasts were characterized by increased Tfeb-dependent transcripts, lysosomal biogenesis and repositioning, and increased autophagy. The growth of Madin-Darby canine kidney cell cysts was markedly increased following exposure to the TFEB agonist compound C1, and nuclear Tfeb translocation was observed in response to both forskolin and compound C1 treatment. Nuclear TFEB also characterized cystic epithelia but not noncystic tubular epithelia in human patients with autosomal dominant polycystic kidney disease. Noncanonical activation of TFEB is characteristic of cystic epithelia in multiple models of renal cystic disease including those associated with loss of Pkd1. Nuclear TFEB translocation is functionally active in these models and may be a component of a general pathway contributing to cystogenesis and growth.NEW & NOTEWORTHY Changes in epithelial cell metabolism are important in renal cyst development. The role of TFEB, a transcriptional regulator of lysosomal function, was explored in several models of renal cystic disease and human ADPKD tissue sections. Nuclear TFEB translocation was uniformly observed in cystic epithelia in each model of renal cystic disease examined. TFEB translocation was functionally active and associated with lysosomal biogenesis and perinuclear repositioning, increased TFEB-associated protein expression, and activation of autophagic flux. Compound C1, a TFEB agonist, promoted cyst growth in 3-D cultures of MDCK cells. Nuclear TFEB translocation is an underappreciated signaling pathway for cystogenesis that may represent a new paradigm for cystic kidney disease.

Conservative approach in the management of infected radicular cyst in the anterior maxilla in a pediatric patient: A case report

Odontogenic cysts are pathological cavities enclosed by fibrous connective tissue and lined with epithelial tissue that develops from odontogenic tissues in the maxilla and mandible's tooth-bearing regions. Trauma or tooth caries is the main cause of radicular cysts or periapical cysts. Pulp necrosis is the outcome of dental caries irritating the pulp cavity. Once the infection has reached the root's tip, it causes periapical periodontitis, which may lead to either a chronic granuloma or an acute abscess. A persistent chronic infection led to the development of a periapical cyst. Radicular cysts are the most prevalent cystic lesions that afflict the jaw. They account for 52% to 68 percent of all cysts affecting the human jaw, making them the most common of all jaw cysts. The paper presents a case report of a 10-year-old pediatric patient who developed a radicular cyst post-trauma and eventually got infected.

Postradiosurgery cystic degeneration in brain metastases causing delayed and potentially severe sequelae: systematic review and illustrative cases.

Cystic postradiation degeneration has previously been described in the literature as a rare but potentially severe complication after central nervous system (CNS) irradiation for vascular malformations. Limited cases have been reported in the setting of brain metastases. Thirty-six total cases, including three reported here, of cystic postradiation degeneration are identified. Of 35 cases with complete clinical information, 34 (97.25%) of 35 were symptomatic from cystic changes at diagnosis. The average time between initial radiation dose and cyst development was 7.61 years (range 2-31 years). Although most patients were initially treated conservatively with medication, including steroids, 32 (88.9%) of 36 ultimately required surgical intervention. The most common interventions were craniotomy for cyst fenestration or resection (25 of 36; 69.4%) and Ommaya placement (8 of 36). After intervention, clinical improvement was seen in 10 (67%) of 15 cases, with persistent or worsening deficit or death seen in 5 (33%) of 15. Cysts were decompressed or obliterated on postoperative imaging in 20 (83.3%) of 24 cases, and recurrence was seen in 4 (16.7%) of 24. Cystic degeneration is a rare and delayed sequela after radiation for brain metastases. This entity has the potential to cause significant and permanent neurological deficit if not properly recognized and addressed. Durable control can be achieved with a variety of surgical treatments, including cyst fenestration and Ommaya placement.

Plant-derived compounds for treating autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic hereditary kidney disease, is the fourth leading cause of end-stage kidney disease worldwide. In recent years, significant progress has been made in delaying ADPKD progression with different kinds of chemical drugs, such as tolvaptan, rapamycin, and somatostatin. Meanwhile, numerous plant-derived compounds have been investigated for their beneficial effects on slowing ADPKD progression. Among them, saikosaponin-d, Ganoderma triterpenes, curcumin, ginkgolide B, steviol, resveratrol, Sparganum stoloniferum Buch.-Ham, Cordyceps sinensis, triptolide, quercitrin, naringin, cardamonin, gambogic acid, and olive leaf extract have been found to retard renal cyst development by inhibiting cell proliferation or promoting cell apoptosis in renal cyst-lining epithelial cells. Metformin, a synthesized compound derived fromFrench lilacor goat's rue (Galega officinalis), has been proven to retard the progression of ADPKD. This review focuses on the roles and mechanisms of plant-derived compounds in treating ADPKD, which may constitute promising new therapeutics in the future.

A CASE SERIES OF NONSYNDROMIC DOUBLE MESIODENS IN MIXED DENTITION

Mesiodens is a commonly found supernumerary tooth present in the midline of maxilla. Mesiodens can be paired, single, erupted, unerupted, and sometimes impacted. Numerous issues are brought on by these mesiodens, including cyst development, root resorption, midline diastema, displacement, and rotation. In the present case, mesiodens is found bilaterally in the anterior maxilla and both mesiodens are prophylactically extracted to prevent its adverse effects on permanent dentition

A review article on pcos and its impact on quality of life in women correlation with age, basal metabolic index and various factors

Polycystic ovary syndrome (PCOS) is a hormonal disorder characterised by presence of oligomenorrhoea, anovulation and hyperandrogenism in females. PCOS mainly observed in women in adolescent age to pre-partum resulting in abortions. Symptoms mainly include irregular menstrual cycles, anovulation, acne, hirsutism and oligomenorrhea. The pathophysiology of PCOS involves the primary ovarian abnormalities, endocrine alterations and metabolic modifiers such as anti-Mullerian hormone, insulin resistance and chronic inflammation which causes metabolic disturbances and results hormone imbalance which results in hyperandrogenism therefore development of cysts in ovaries is observed. Diagnostic criteria are mainly done from the Rotterdam criteria of PCOSwhich includes mainly presence of menstrual irregularities, ultrasound scanning and Luteinizing Harmone (LH) and Follicle-stimulating hormone (FSH) ratio and raise of androgens level in body. Treatment options includes oral contraceptive pills, metformin therapy for insulin intolerance, local treatments for hirsutism by laser hair removal therapy, hormone replacement therapy for hyperandrogenism and acne. Non-pharmacological treatment includes diet changes, regular exercises and weight loss. Early diagnosis of PCOD can improve the quality of life and minimize the chances of causing cardiac problemsand further complications caused by PCOS such as hair loss, infertility and if left undiagnosed may result in uterus cancer.

Histopathological presence of dermal elements in resected margins of neural structures obtained from initial repair surgery for myelomeningocele.

Development of dermoid or epidermoid cysts in myelomeningocele (MMC) sites is generally thought to occur in a delayed fashion due to implantation of dermal elements during initial repair surgery. Another theory is that dermal and dermoid elements may already be present within dysplastic neural structures at birth. We experienced histopathological presence of dermal elements in resected tissues at initial repair surgery in four out of 18 cases with MMC who required resection of parts or margins of the neural structures to perform cord untethering. Since one of these cases has already been reported, we describe the clinicopathological findings for the remaining three cases. In Case1, cryptic dermoid elements were discovered in the terminal filum-like structure (FT-LS) caudal to the open neural placode (NP). The FT-LS had histopathological characteristics similar to the retained medullary cord. In Case 2, dermoid elements were discovered in the caudal margin of the dysplastic conus medullaris. In Case 3, a thin squamous epithelial layer overlapped the rostral margin of the NP where the NP was located near the skin. Case 1 developed an epidermoid cyst at 1 year and 2 months of age, which was totally resected. Prenatally existing cryptic dermoid elements in the caudal portion of neural structures and remnants of dermal elements overlapping the rostral margin of the NP are associated with delayed occurrence of dermoid/ epidermoid cysts. Postoperative histopathological investigation of the resected specimens is recommended. Once dermal elements are revealed, repeated imaging examination and additional surgery should be considered.

Functions of the primary cilium in the kidney and its connection with renal diseases.

The nonmotile primary cilium is a sensory structure found on most mammalian cell types that integrates multiple signaling pathways involved in tissue development and postnatal function. As such, mutations disrupting cilia activities cause a group of disorders referred to as ciliopathies. These disorders exhibit a wide spectrum of phenotypes impacting nearly every tissue. In the kidney, primary cilia dysfunction caused by mutations in polycystin 1 (Pkd1), polycystin 2 (Pkd2), or polycystic kidney and hepatic disease 1 (Pkhd1), result in polycystic kidney disease (PKD), a progressive disorder causing renal functional decline and end-stage renal disease. PKD affects nearly 1 in 1000 individuals and as there is no cure for PKD, patients frequently require dialysis or renal transplantation. Pkd1, Pkd2, and Pkhd1 encode membrane proteins that all localize in the cilium. Pkd1 and Pkd2 function as a nonselective cation channel complex while Pkhd1 protein function remains uncertain. Data indicate that the cilium may act as a mechanosensor to detect fluid movement through renal tubules. Other functions proposed for the cilium and PKD proteins in cyst development involve regulation of cell cycle and oriented division, regulation of renal inflammation and repair processes, maintenance of epithelial cell differentiation, and regulation of mitochondrial structure and metabolism. However, how loss of cilia or cilia function leads to cyst development remains elusive. Studies directed at understanding the roles of Pkd1, Pkd2, and Pkhd1 in the cilium and other locations within the cell will be important for developing therapeutic strategies to slow cyst progression.

Heterotopic duplication cysts

Enteric duplication cysts are a rare finding, most commonly found in young children with many being seen on prenatal ultrasound. Gastric duplication cysts are a rare form of duplication cyst accounting for less than 10% of all duplication cysts, with the majority found in females. Rarely, these cysts can have clinically important ectopic tissues including gastric, duodenal, and pancreatic tissues, so can present with ectopic gastric ulcers and, very rarely, perforate or hemorrhage. We present a case report of two patients seen at Tufts Children's Hospital with a duplication cyst. The first patient presented with a heterotopic duplication cyst attached to the head of the pancreas with no communication with the alimentary tract and the second patient presented with a heterotopic duplication cyst attached to the tail of the pancreas, again with no communication with the alimentary tract, both consistent with gastric-type mucosa on pathological examination. We were unable to find any previously documented evidence of heterotopic duplication cysts that did not involve communication with the stomach, attachment via a common wall to the stomach, or a shared blood supply. Gastric duplication cysts are a rare form of duplication cyst in general, and rarely present with complications such as ulcers or cancer, but are favored for surgical management given the risks of mass effect or other symptoms as well as the rare risks for other complications including hemorrhage or erosion. Embryologically, the development of duplication cysts is thought to be related to the recanalization phase of the bowel lumen. Multiple management modalities have been described in the literature, with the most common being surgical resection if possible, or cystogastrostomy if unresectable. Both patients recovered well post-operatively and continue to be followed in clinic.

РЕЗУЛЬТАТЫ ЭФФЕКТИВНОСТИ ЛАПАРОСКОПИЧЕСКОГО ЛЕЧЕНИЕ ЭХИНОКОККОЗА ПЕЧЕНИ

Laparoscopic surgery for liver echinococcosis is a technical option in individual uncomplicated cases of the disease, and the risk of complications after laparoscopy, especially leakage of the contents of the echinococcal cyst, has not been evaluated in larger interinstitutional studies. The purpose of this study: to study the results of laparoscopic treatment of liver echinococcosis with the identification of factors that affect specific aspects of the effectiveness of surgical approaches depending on the localization, size and stage of development of the cyst. Methods. Laparoscopy in the comparison group was performed only in patients with the primary form of liver echinococcosis – 46 patients; solitary cyst was in 26 (56.5%) cases and multiple cysts in 20 (43.5%) patients. Results. The technical aspects of performing laparoscopic echinococcectomy play a leading role in the effectiveness of the technique. Taking into account the stage of cyst development, various difficulties with manipulations occurred more often in type II-IV CE. Thus, difficulties with aspiration or removal of cyst contents were noted in only 14 (30.4%) cases, while for type CE II this indicator was 50% (6 out of 12 patients), for CE III – 44.4% (in 4 out of 9 patients), for type IV – 100% (3). Conclusions. Thus, among the main factors technically complicating laparoscopic echinococcectomy, in addition to localization, difficulties with aspiration or removal of cyst contents were identified in 54.2% of cases at the stage of development - CE II, III and IV (in 13 out of 24 patients with these types) due to the presence of many daughter cysts completely filling the mother shell (CE II, III) or thick viscous discharge (CE IV), as well as difficulties with performing perekistectomy for adequate abdominization of the residual cavity with the location of the hydatid 3/4 or more in the liver parenchyma - 19.6% (in 9 of all 46 operated).

Knockdown of regulatory associated protein of TOR (raptor) in hypothalamus-stimulated folliculogenesis and induced ovarian cysts.

Mammalian target of rapamycin complex 1 (mTORC1) is an essential sensor that regulates fundamental biological processes like cell growth, proliferation and energy metabolism. The treatment of disease by sirolimus, a mTORC1 inhibitor, causes adverse effects, such as female fertility disorders. The objective of the study was to decipher the reproductive consequences of a downregulation of mTORC1 in the hypothalamus. The reduced expression of mTORC1 was induced after intracerebroventricular injection of lentivirus expressing a short hairpin RNA (shRNA) against regulatory associated protein of TOR (raptor) in adult female mice (ShRaptor mice). The ShRaptor mice were fertile and exhibited a 15% increase in the litter size compared with control mice. The histological analysis showed an increase in antral, preovulatory follicles and ovarian cysts. In the hypothalamus, the GnRH mRNA and FSH levels in ShRaptor mice were significantly elevated. These results support the hypothesis that mTORC1 in the central nervous system participates in the regulation of female fertility and ovarian function by influencing the GnRH neuronal activity. These results suggest that a lower mTORC1 activity directly the central nervous system leads to a deregulation in the oestrous cycle and an induction of ovarian cyst development.

A kidney resident macrophage subset is a candidate biomarker for renal cystic disease in preclinical models.

Although renal macrophages have been shown to contribute to cyst development in polycystic kidney disease (PKD) animal models, it remains unclear whether there is a specific macrophage subpopulation involved. Here, we analyzed changes in macrophage populations during renal maturation in association with cystogenesis rates in conditional Pkd2 mutant mice. We observed that CD206+ resident macrophages were minimal in a normal adult kidney but accumulated in cystic areas in adult-induced Pkd2 mutants. Using Cx3cr1 null mice, we reduced macrophage number, including CD206+ macrophages, and showed that this significantly reduced cyst severity in adult-induced Pkd2 mutant kidneys. We also found that the number of CD206+ resident macrophage-like cells increased in kidneys and in the urine from autosomal-dominant PKD (ADPKD) patients relative to the rate of renal functional decline. These data indicate a direct correlation between CD206+ resident macrophages and cyst formation, and reveal that the CD206+ resident macrophages in urine could serve as a biomarker for renal cystic disease activity in preclinical models and ADPKD patients. This article has an associated First Person interview with the first author of the paper.

Malignant transformation of perianal tailgut cyst: A case report

Tailgut cyst is a congenital enterogenous cyst that rarely undergoes malignant transformation. Its clinical manifestations mainly correlate to the mass effect caused by the development of cysts and the infections that originate from these. Furthermore, the complete resection of this cyst is curative. We report our diagnostic and treatment experience with one case of malignant transformation of a perianal tailgut cyst, which was initially misdiagnosed as perianal abscess. A 72-year-old woman visited our institution with complaints of a refractory nonhealing lesion on the right hip, which repeatedly broke and suppurated for more than 70 years, and aggravated in 4 mo. The patient was given a diagnosis of refractory perianal abscess with repeated incision and drainage procedures. Computed tomography of the pelvic cavity revealed a giant perianal cyst. Subsequent biopsy revealed a tumor with moderate-to-severe glandular epithelial dysplasia, and suggested that this was derived from the developmental cysts in the posterior rectal space. After further clarifying the nature and extent of the tumor by magnetic resonance imaging, total cystic resection was performed. Postoperative histopathological examination confirmed the malignancy, dictating the investigators to add postoperative chemotherapy to the treatment regimen. The malignant transformation of perianal tailgut cysts is very uncommon, and this should be differentiated from perianal abscess. Complete surgical removal is curative, and postoperative pathology may determine the necessity of additional postoperative chemotherapy or radiotherapy, which may be beneficial for preventing local recurrence and metastasis.

Tubular-specific expression of HIV protein Vpr leads to severe tubulointerstitial damage accompanied by progressive fibrosis and cystic development

Chronic kidney disease (CKD) is a common cause of morbidity in human immunodeficiency virus (HIV)-positive individuals. HIV infection leads to a wide spectrum of kidney cell damage, including tubular epithelial cell (TEC) injury. Among the HIV-1 proteins, the pathologic effects of viral protein R (Vpr) are well established and include DNA damage response, cell cycle arrest, and cell death. Several invitro studies have unraveled the molecular pathways driving the cytopathic effects of Vpr in tubular epithelial cells. However, the invivo effects of Vpr on tubular injury and CKD pathogenesis have not been thoroughly investigated. Here, we use a novel inducible tubular epithelial cell-specific Vpr transgenic mouse model to show that Vpr expression leads to progressive tubulointerstitial damage, interstitial inflammation and fibrosis, and tubular cyst development. Importantly, Vpr-expressing tubular epithelial cells displayed significant hypertrophy, aberrant cell division, and atrophy; all reminiscent of tubular injuries observed in human HIV-associated nephropathy (HIVAN). Single-cell RNA sequencing analysis revealed the Vpr-mediated transcriptomic responses in specific tubular subsets and highlighted the potential multifaceted role of p53 in the regulation of cell metabolism, proliferation, and death pathways in Vpr-expressing tubular epithelial cells. Thus, our study demonstrates that HIV Vpr expression in tubular cells is sufficient to induce HIVAN-like tubulointerstitial damage and fibrosis, independent of glomerulosclerosis and proteinuria. Additionally, as this new mouse model develops progressive CKD with diffuse fibrosis and kidney failure, it can serve as a useful tool to examine the mechanisms of kidney disease progression and fibrosis invivo.

A case report of multiple supernumerary teeth: Post-permanant dentiton or hyperactivity of dental lamina

Supplementary teeth in simple terms could be be defined as those supernumerary teeth which are well aligned in the arch resembling the normal anatomical structures of teeth. There has been evidences of supplementary premolars and molars since from beginning of the civilization. According to Darwin’s theory of evolution which stated that during the course of humans evolution the organs which do not have greater use in regular became vestigial which included the appendix, tail bone, fourth molar. Supernumerary teeth often remain asymptomatic, and only get diagnosed incidentally during a routine dental visit on radiographs. Nevertheless, various complications have been reported in literature related to supernumerary teeth such as disturbed eruption, malpositioning or rotation, root resorption of neighbouring teeth, and development of dentigerous cysts in impacted supernumeraries. Root resorption of neighbouring teeth can be radiographically diagnosed in up to 22.8% of the cases. Here we report an unusual case of multiple supernumerary teeth in a non-syndromic patient of African native.

HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression.

Mutations or deletions in transcription factor hepatocyte nuclear factor 1 homeobox β (HNF1β) cause renal cysts and/or malformation, maturity-onset diabetes of the young and electrolyte disturbances. Here, we applied a comprehensive bioinformatic approach on ChIP-seq, RNA-seq, and gene expression array studies to identify novel transcriptional targets of HNF1β explaining the kidney phenotype of HNF1β patients. We identified BAR/IMD Domain Containing Adaptor Protein 2 Like 2 (BAIAP2L2), as a novel transcriptional target of HNF1β and validated direct transcriptional activation of the BAIAP2L2 promoter by a reporter luciferase assay. Using mass spectrometry analysis, we show that BAIAP2L2 binds to other members of the I-BAR domain-containing family: BAIAP2 and BAIAP2L1. Subsequently, the role of BAIAP2L2 in maintaining epithelial cell integrity in the kidney was assessed using Baiap2l2 knockout cell and mouse models. Kidney epithelial cells lacking functional BAIAP2L2 displayed normal F-actin distribution at cell-cell contacts and formed polarized three-dimensional spheroids with a lumen. In vivo, Baiap2l2 knockout mice displayed normal kidney and colon tissue morphology and serum and urine electrolyte concentrations were not affected. Altogether, our study is the first to characterize the function of BAIAP2L2 in the kidney in vivo and we report that mice lacking BAIAP2L2 exhibit normal electrolyte homeostasis and tissue morphology under physiological conditions.