Amniotic Band Syndrome
Characterization of nodular neuronal heterotopia in children. (1/605)
Neuronal heterotopia are seen in various pathologies and are associated with intractable epilepsy. We examined brain tissue from four children with subcortical or periventricular nodular heterotopia of different aetiologies: one with severe epilepsy following focal brain trauma at 17 weeks gestation, one with hemimegalencephaly and intractable epilepsy, one with focal cortical dysplasia and intractable epilepsy, and one dysmorphic term infant with associated hydrocephalus and polymicrogyria. The connectivity of nodules was investigated using histological and carbocyanine dye (DiI) tracing techniques. DiI crystal placement adjacent to heterotopic nodules revealed numerous DiI-labelled fibres within a 2-3 mm radius of the crystals. Although we observed labelled fibres closely surrounding nodules, the majority did not penetrate them. Placement of DiI crystals within nodules also identified a limited number of projections out of the nodules and in one case there was evidence for connectivity between adjacent nodules. The cellular and neurochemical composition of nodules was also examined using immunohistochemistry for calretinin and neuropeptide Y (NPY), which are normally expressed in GABAergic cortical interneurons. Within heterotopic nodules from all cases, numerous calretinin-positive neurons were identified, along with a few cell bodies and many processes positive for NPY. Calretinin-positive neurons within nodules were less morphologically complex than those in the cortex, which may reflect incomplete differentiation into an inhibitory neuronal phenotype. There were also abnormal clusters of calretinin-positive cells in the overlying cortical plate, indicating that the migratory defect which produces heterotopic nodules also affects development of the cortex itself. Thus, heterotopic nodules consisting of multiple neuronal cell types are associated with malformation in the overlying cortical plate, and have limited connectivity with other brain regions. This abnormal development of connectivity may affect neuronal maturation and consequently the balance of excitation and inhibition in neuronal circuits, leading to their epileptogenic potential. (+info)Spatiotemporal pattern of the mouse chondromodulin-I gene expression and its regulatory role in vascular invasion into cartilage during endochondral bone formation. (2/605)
During endochondral bone formation, vascular invasion into cartilage initiates the replacement of cartilage by bone. Chondromodulin-I, a 25 kDa glycoprotein purified from bovine epiphyseal cartilage, was recently identified as a novel endothelial cell growth inhibitor. Here we cloned the mouse chondromodulin-I cDNA from a mouse whole embryo cDNA library. Northern blot analysis revealed that the chondromodulin-I transcripts were expressed in association with the formation of cartilage expressing type II collagen from days 11 to 17 of gestation in mouse embryos, at which time cartilaginous bone rudiments were gradually replaced by bone. Chondromodulin-I mRNA was also detected in the thymus and eyes at a lower level. In situ hybridization revealed significant expression in all cartilaginous tissues in the embryos at days 13.5 and 16 of gestation. However, the expression was completely abolished in the hypertrophic cartilage zone prior to calcification. Upon chondrogenic differentiation of mouse ATDC5 cells in vitro, the expression of chondromodulin-I transcripts was induced concomitantly with the formation of type II collagen-expressing chondrocytes. The expression of the transcripts then declined as type X collagen-expressing hypertrophic chondrocytes appeared in the culture. Purified chondromodulin-I protein inhibited the vascular invasion into cartilage ectopically induced by demineralized bone matrix in nude mice, leading to the suppression of bone formation in vivo. These results suggest that chondromodulin-I is involved in the anti-angiogenic property of cartilage, and that the withdrawal of its expression allows the vascular invasion which triggers the replacement of cartilage by bone during endochondral bone development. (+info)Reversion of the differentiated phenotype and maturation block in Sertoli cells in pathological human testis. (3/605)
To study the relationship between abnormal Sertoli cell differentiation and spermatogenic impairment, we examined the expression of Sertoli cell markers normally lost at puberty, cytokeratin 18 (CK18), anti-Mullerian hormone (AMH) and M2A antigen, in three children (aged 1-2 years), 50 adults (aged 19-45 years) with obstructive or non-obstructive azoospermia or oligozoospermia, and six patients (aged 1-18 years) with 5 alpha-reductase deficiency. There was CK18 and/or AMH expression, but never M2A antigen expression, associated with spermatogonial arrest or Sertoli cell-only (SCO) syndrome in infertile men. Loss of M2A antigen suggests the transition of Sertoli cells to an adult phenotype, while CK18 and/or AMH expression may be a manifestation of de-differentiation of Sertoli cells. In 5 alpha-reductase deficiency, there was a sequential loss of CK18, M2A antigen and AMH around puberty, associated with partial spermatogenesis. The persistence of immature Sertoli cells expressing M2A antigen was associated with prepubertal seminiferous cords and SCO syndrome. Therefore, 5 alpha-reductase deficiency may prevent the maturation of Sertoli cells, resulting in impairment of spermatogenesis, and loss of M2A antigen expression coincides with a critical step in the Sertoli cell maturation. High follicle stimulating hormone concentrations due to failure of normal Sertoli cell differentiation indicate a normal development pattern of the hypothalamic-pituitary-gonadal axis. (+info)Possible mechanisms by which pro- and prebiotics influence colon carcinogenesis and tumor growth. (4/605)
Oligofructose and inulin, selective fermentable chicory fructans, have been shown to stimulate the growth of bifidobacteria, which are regarded as beneficial strains in the colon. Studies were designed to evaluate inulin (Raftiline) and oligofructose (Raftilose) for their potential inhibitory properties against the development of colonic aberrant crypt foci (ACF) in rats. ACF are putative preneoplastic lesions from which adenomas and carcinomas may develop in the colon. The results of this study indicate that dietary administration of oligofructose and inulin inhibits the development of ACF in the colon, suggesting the potential colon tumor inhibitory properties of chicory fructans. The degree of ACF inhibition was more pronounced in animals given inulin than in those fed oligofructose. Because these prebiotics selectively stimulate the growth of bifidobacteria, ornithine decarboxylase (ODC) activities, ras-p21 ontoprotein expressions and tumor inhibitory activity of lyophilized cultures of Bifidobacterium longum against chemically induced colon and mammary carcinogenesis and against colonic tumor cell proliferation were examined. Dietary administration of lyophilized cultures of B. longum strongly suppressed colon and mammary tumor development and tumor burden. Inhibition of colon carcinogenesis was associated with a decrease in colonic mucosal cell proliferation and activities of colonic mucosal and tumor ornithine decarboxylase and ras-p21. Human clinical trials are likely to broaden our insight into the importance of the pre- and probiotics in health and disease. (+info)The effect of synbiotics on colon carcinogenesis in rats. (5/605)
Evidence indicates that consumption of probiotic microorganisms such as bifidobacteria reduces the risk of colon cancer in animal models. Feeding certain fructans such as oligofructose and inulin, which are thought to selectively increase the growth of intestinal bifidobacteria (i.e., a prebiotic effect), also has been shown to reduce colon cancer risk. The objective of our study was twofold, i. e., to determine whether the combination of bifidobacteria and oligofructose would have an additive effect (i.e., synbiotic) in reducing colon cancer risk in rats, and to determine whether other oligosaccharides would also be effective as part of a synbiotic combination. The development of colonic preneoplastic lesions (aberrant crypts) was used as an index of colon cancer risk. In one series of experiments, rats were given the carcinogen 1, 2-dimethylhydrazine (DMH) and administered one of the following treatments: skim milk (control), bifidobacteria (bifido), oligofructose (OF) or bifido + OF. Neither bifido nor OF alone significantly reduced aberrant crypt number. Bifido + OF reduced aberrant crypt number in five of six experiments, although the reduction was significant in only one. However, a paired comparison of the six experiments indicated a significant overall reduction in aberrant crypts by bifido + OF (P = 0.039). Soybean oligosaccharide (SBO) and wheat bran oligosaccharide (WBO) were also fed in combination with bifidobacteria. In two other experiments, SBO did not alter the number of aberrant crypts compared with the control, whereas WBO reduced aberrant crypt number in one experiment but not in another. Of OF, SBO and WBO, only SBO reduced the colonic mucosa proliferation compared with the control. These results suggest that the combination of bifidobacteria and oligofructose reduces colon cancer risk in carcinogen-treated rats, but the effect of other oligosaccharides is uncertain. (+info)Adult-onset neurologic dysfunction associated with cortical malformations. (6/605)
BACKGROUND AND PURPOSE: Malformations of cerebral cortical development are common anomalies of the brain, typically causing developmental delay or seizures that are classically thought to begin in childhood. We present clinical and MR imaging data of 16 patients with cortical malformations in whom evidence of neurologic dysfunction was first noted in adulthood, and attempt to determine whether these malformations had any differentiating features from those presenting in childhood. METHODS: Imaging studies and clinical records of 16 patients with adult-onset neurologic dysfunction were reviewed retrospectively. The patients ranged in age from 17 to 64 years (mean age, 35 years) at the time of imaging. Imaging findings were correlated with seizure history. RESULTS: Fourteen patients had subependymal heterotopia (seven women, seven men), and two patients had closed-lip schizencephalies. Eleven patients had epilepsy, with age of onset ranging from 14 to 45 years (mean age, 22 years); four of them were successfully controlled by medication. The remaining five patients had no seizure disorder. All patients, except one, had normal intelligence. The bilaterality or multiplicity of location of heterotopias was not associated with the presence or absence of seizures, seizure frequency, or electroencephalographic results. CONCLUSION: Subependymal heterotopia and small closed-lip schizencephaly may have minor clinical manifestations that are not evident until adulthood, or may, occasionally, never cause neurologic signs or symptoms whatsoever. (+info)Pax6 induces ectopic eyes in a vertebrate. (7/605)
We report here that misexpression of the transcription factor Pax6 in the vertebrate Xenopus laevis leads to the formation of differentiated ectopic eyes. Multiple molecular markers indicated the presence of mature lens fiber cells, ganglion cells, Muller cells, photoreceptors and retinal pigment epithelial cells in a spatial arrangement similar to that of endogenous eyes. Lineage tracing experiments showed that lens, retina and retinal pigment epithelium arose as a consequence of the cell-autonomous function of Pax6. These experiments also reveal that the cell autonomous activity of misexpressed Pax6 causes the ectopic expression of a number of genes including Rx, Otx2, Six3 and endogenous Pax6, each of which has been implicated in eye development. The formation of ectopic and endogenous eyes could be suppressed by coexpression of a dominant-negative form of Pax6. These data show that in vertebrates, as in the invertebrate Drosophila melanogaster, Pax6 is both necessary and sufficient to trigger the cascade of events required for eye formation. (+info)Cerebral amyloid induces aberrant axonal sprouting and ectopic terminal formation in amyloid precursor protein transgenic mice. (8/605)
A characteristic feature of Alzheimer's disease (AD) is the formation of amyloid plaques in the brain. Although this hallmark pathology has been well described, the biological effects of plaques are poorly understood. To study the effect of amyloid plaques on axons and neuronal connectivity, we have examined the axonal projections from the entorhinal cortex in aged amyloid precursor protein (APP) transgenic mice that exhibit cerebral amyloid deposition in plaques and vessels (APP23 mice). Here we report that entorhinal axons form dystrophic boutons around amyloid plaques in the entorhinal termination zone of the hippocampus. More importantly, entorhinal boutons were found associated with amyloid in ectopic locations within the hippocampus, the thalamus, white matter tracts, as well as surrounding vascular amyloid. Many of these ectopic entorhinal boutons were immunopositive for the growth-associated protein GAP-43 and showed light and electron microscopic characteristics of axonal terminals. Our findings suggest that (1) cerebral amyloid deposition has neurotropic effects and is the main cause of aberrant sprouting in AD brain; (2) the magnitude and significance of sprouting in AD have been underestimated; and (3) cerebral amyloid leads to the disruption of neuronal connectivity which, in turn, may significantly contribute to AD dementia. (+info)Choristoma is a rare benign tumor that originates from the remnants of the embryonic chorion, which is the outer layer of the placenta. It typically affects the ovary, uterus, or broad ligament in women, and less frequently, the testis, epididymis, or spermatic cord in men.
Characteristics:
Choristomas are usually small (less than 5 cm in diameter) and may be solitary or multiple. They can be spherical, oval, or irregular in shape and are often surrounded by a fibrous capsule. The tumors are typically soft to the touch, with a smooth surface, and may be attached to the surrounding tissue by a stalk-like structure called a peduncle.
Clinical Presentation:
Choristomas are usually asymptomatic and are often incidentally detected during pelvic examination or imaging studies performed for other indications. In some cases, they may cause symptoms such as abdominal pain, pelvic pressure, or bleeding, especially if they rupture or become twisted.
Imaging Features:
Choristomas are typically isointense to the liver on T1-weighted magnetic resonance imaging (MRI) and hyperintense on T2-weighted MRI, indicating high signal intensity on both sequences. They may also show enhancement after contrast administration. On ultrasound, choristomas may appear as hypoechoic masses with irregular margins.
Differential Diagnosis:
The differential diagnosis for choristoma includes other benign and malignant tumors that can occur in the ovary, uterus, or broad ligament, such as fibroma, leiomyoma, endometrial polyp, or cancer. The diagnosis of choristoma is based on a combination of clinical, imaging, and histopathological features.
Treatment:
Choristomas are usually managed conservatively with close follow-up and monitoring to ensure that they do not grow or cause any complications. In rare cases, surgical intervention may be necessary if the tumor becomes symptomatic or if there is concern for malignancy. Complete excision of the choristoma is often difficult due to its extensive involvement with surrounding tissues.
Prognosis:
The prognosis for choristoma is generally good, and most cases are benign and asymptomatic. However, in rare cases, malignant transformation can occur, and the tumor may grow and cause symptoms such as abdominal pain, bleeding, or bowel obstruction. The long-term outlook for patients with choristoma depends on the size, location, and aggressiveness of the tumor, as well as the presence of any underlying medical conditions.
In conclusion, choristoma is a rare benign tumor that can occur in the ovary, uterus, or broad ligament. It typically presents with abdominal pain, bleeding, or other symptoms, and imaging studies are useful in diagnosing and monitoring the tumor. While the prognosis for choristoma is generally good, it is important to consider the possibility of malignant transformation and monitor patients closely for any signs of complications.
The symptoms of Amniotic Band Syndrome can vary depending on the severity of the entanglement and the location of the bands on the body. Common physical abnormalities include:
* Limb defects, such as clubfoot, missing digits, or webbed fingers and toes
* Skin bridges or flaps
* Craniofacial abnormalities, such as cleft lip or palate
* Gastrointestinal malformations, such as intestinal atresia or stenosis
* Heart defects, such as ventricular septal defect
* Urinary tract abnormalities, such as bladder exstrophy or hypospadias
The cause of Amniotic Band Syndrome is not well understood, but it is thought to occur when the amniotic membrane ruptures and the fetus becomes entangled in the resulting bands. The condition can be diagnosed during pregnancy through ultrasound examination, and after birth through physical examination and imaging studies.
There is no standard treatment for Amniotic Band Syndrome, as the severity of the condition and the specific abnormalities present vary widely from case to case. Treatment may include surgery to correct physical abnormalities, as well as supportive care to manage developmental delays and other complications. The prognosis for children with Amniotic Band Syndrome varies depending on the severity of the condition and the specific abnormalities present, but in general, the condition can have a significant impact on the child's quality of life and long-term outlook.
Some common types of eye neoplasms include:
1. Uveal melanoma: This is a malignant tumor that develops in the uvea, the middle layer of the eye. It is the most common primary intraocular cancer in adults and can spread to other parts of the body if left untreated.
2. Retinoblastoma: This is a rare type of cancer that affects children and develops in the retina. It is usually diagnosed before the age of 5 and is highly treatable with surgery, chemotherapy, and radiation therapy.
3. Conjunctival melanoma: This is a malignant tumor that develops in the conjunctiva, the thin membrane that covers the white part of the eye. It is more common in older adults and can be treated with surgery and/or radiation therapy.
4. Ocular sarcomas: These are rare types of cancer that develop in the eye tissues, including the retina, optic nerve, and uvea. They can be benign or malignant and may require surgical removal or radiation therapy.
5. Secondary intraocular tumors: These are tumors that metastasize (spread) to the eye from other parts of the body, such as breast cancer or lung cancer.
The symptoms of eye neoplasms can vary depending on their location and type, but may include:
* Blurred vision
* Eye pain or discomfort
* Redness or inflammation in the eye
* Sensitivity to light
* Floaters (specks or cobwebs in vision)
* Flashes of light
* Abnormal pupil size or shape
Early detection and treatment of eye neoplasms are important to preserve vision and prevent complications. Diagnosis is typically made through a combination of physical examination, imaging tests such as ultrasound or MRI, and biopsy (removing a small sample of tissue for examination under a microscope). Treatment options may include:
* Surgery to remove the tumor
* Radiation therapy to kill cancer cells
* Chemotherapy to destroy cancer cells with medication
* Observation and monitoring if the tumor is slow-growing or benign
It's important to seek medical attention if you experience any unusual symptoms in your eye, as early detection and treatment can improve outcomes.
1. Tooth decay (cavities): A bacterial infection that causes tooth enamel to break down, leading to holes in the teeth.
2. Periodontal disease: An infection of the gums and bone that support the teeth, caused by bacteria.
3. Gingivitis: Inflammation of the gums, usually caused by poor oral hygiene or smoking.
4. Oral thrush: A fungal infection of the mouth, typically affecting people with weakened immune systems.
5. Herpes simplex virus (HSV) infections: Viral infections that cause sores on the lips, tongue, or gums.
6. Cold sores: Caused by the herpes simplex virus, these are small, painful blisters that appear on the lips, nose, or mouth.
7. Canker sores: Small, shallow ulcers that develop on the inside of the mouth, tongue, lips, or gums.
8. Leukoplakia: A condition where thick, white patches form on the insides of the mouth, usually due to excessive tobacco use or other irritants.
9. Oral cancer: Cancer that develops in any part of the mouth, including the lips, tongue, gums, or throat.
10. Dry mouth (xerostomia): A condition where the mouth does not produce enough saliva, which can increase the risk of tooth decay and other problems.
These are just a few examples of mouth diseases. It's important to maintain good oral hygiene and visit a dentist regularly to help prevent these conditions and ensure early detection and treatment if they do occur.
Hamartoma
Nasal glial heterotopia
Heterotopia (medicine)
Schimmelpenning syndrome
Terminal osseous dysplasia with pigmentary defects
Eugen Albrecht
Ectomesenchymal chondromyxoid tumor
Bad breath
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Neuromuscular choristoma19
- 1. Long-term natural history of a neuromuscular choristoma of the sciatic nerve: a case report and literature review. (nih.gov)
- 3. Clinical features and ultrasound findings of a rare musculoskeletal system disease-neuromuscular choristoma. (nih.gov)
- 4. PET imaging characteristics of neuromuscular choristoma and associated desmoid-type fibromatosis. (nih.gov)
- 6. Neuromuscular choristoma presenting with unilateral limb hypoplasia in a 3-year-old boy. (nih.gov)
- 7. Neuromuscular choristoma: characteristic magnetic resonance imaging findings and association with post-biopsy fibromatosis. (nih.gov)
- 9. Neuromuscular choristoma of the sciatic nerve. (nih.gov)
- 11. Cavus deformity of the foot secondary to a neuromuscular choristoma (hamartoma) of the sciatic nerve. (nih.gov)
- 12. Neuromuscular choristoma of the sciatic nerve and lumbosacral plexus: an association with nerve-territory undergrowth in the pelvis affecting soft tissue and bone. (nih.gov)
- 13. Fibromatosis Associated With Neuromuscular Choristoma: Evaluation by FDG PET/CT. (nih.gov)
- 14. Fibromatosis: a potential sequela of neuromuscular choristoma. (nih.gov)
- 15. Neuromuscular choristoma (hamartoma) with smooth and striated muscle component: case report with immunohistochemical and ultrastructural analysis. (nih.gov)
- 16. Intracranial neuromuscular choristoma: Report of a case with literature review. (nih.gov)
- 17. Orbital neuromuscular choristoma of the ophthalmic nerve. (nih.gov)
- 18. Neuromuscular choristoma. (nih.gov)
- 19. A case of esophageal neuromuscular choristoma. (nih.gov)
- 20. [Neuromuscular choristoma]. (nih.gov)
- 7. [Neuromuscular choristoma]. (nih.gov)
- 12. Neuromuscular choristoma. (nih.gov)
- 13. CTNNB1 Mutations and Estrogen Receptor Expression in Neuromuscular Choristoma and Its Associated Fibromatosis. (nih.gov)
Ocular1
- Ocular choristomas. (medscape.com)
Tissue1
- A choristoma is a tumour-like mass of histologically normal tissue arising in an ectopic location. (bris.ac.uk)
Report1
- Halley, D , Dargue, A & Pring, M 2014, ' Cartilaginous choristoma of the lower lip: Report of a case and review of the literature ', Oral Surgery , vol. 7, no. (bris.ac.uk)
Rare1
- A cartilaginous choristoma is a rare finding within the oral cavity and most commonly presents in the tongue. (bris.ac.uk)
Case1
- We present an unusual case of a cartilaginous choristoma arising in the lower lip. (bris.ac.uk)
Osseous choristoma2
- Epibulbar osseous choristoma is the rarest type among all ocular choristoma with less than 100 cases reported. (bvsalud.org)
- Here, we report a case of epibulbar osseous choristoma combined with dermolipoma and a literature review. (bvsalud.org)
Glial7
- 5. Glial choristoma of the ventral part of the tongue: first report in an elderly patient. (nih.gov)
- 12. Glial choristoma of the tongue: report of a case and clinico-pathological features. (nih.gov)
- 13. Glial choristoma of the tongue: a case report and review of the literature. (nih.gov)
- 15. Glial choristoma of the tongue. (nih.gov)
- A rare clinical cases of salivary gland choristoma of the middle ear (5-year-old girl with left-sided conductive hearing loss of III degree) and glial choristoma of the mastoid (19-year-old man with signs of chronic suppurative otitis media of the right ear) are described. (bvsalud.org)
- Glial choristoma of the head and neck is a rare, benign congenital malformation consisting of a mass of heterotopic glial cells. (bvsalud.org)
- We will discuss the histological findings which initially suggested a glial choristoma, work-up and treatment of this patient with the aim of supplementing the limited existing clinical knowledge of this congenital anomaly and understanding the implications of a paediatric tracheostomy in our setting. (bvsalud.org)
Congenital3
- 3. Congenital melanotic macules and Sebaceous Choristoma arising on the tongue of a newborn: epidermal choristoma? (nih.gov)
- In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). (nih.gov)
- Choristoma is one of the varieties of congenital developmental anomalies, where one or another normal tissue of the body is located in an atypical place for itself. (bvsalud.org)
Abnormality1
- The most common eye abnormality in ECCL is a noncancerous growth called a choristoma. (medlineplus.gov)
Middle ear2
- Because little to no tumor growth over time is usually observed and no evidence of malignant degeneration is reported with middle ear choristomas, conservative management with serial examinations is acceptable for those wishing to forego surgery. (medscape.com)
- The short literary review of choristoma of middle ear is presented in article. (bvsalud.org)